Incidental Mutation 'B5639:Syne2'
ID |
548 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Syne2
|
Ensembl Gene |
ENSMUSG00000063450 |
Gene Name |
spectrin repeat containing, nuclear envelope 2 |
Synonyms |
syne-2, D12Ertd777e, nesprin-2, 6820443O06Rik, Nesp2g |
Accession Numbers |
Genbank: NM_001005510 |
Is this an essential gene? |
Possibly non essential
(E-score: 0.259)
|
Stock # |
B5639
of strain
3d
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
75818134-76110926 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 75929790 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 1243
(T1243K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119120
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044217]
[ENSMUST00000143031]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044217
AA Change: T1242K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000047697 Gene: ENSMUSG00000063450 AA Change: T1242K
Domain | Start | End | E-Value | Type |
CH
|
33 |
134 |
7.97e-19 |
SMART |
low complexity region
|
151 |
175 |
N/A |
INTRINSIC |
CH
|
185 |
283 |
1.34e-20 |
SMART |
low complexity region
|
494 |
505 |
N/A |
INTRINSIC |
coiled coil region
|
541 |
572 |
N/A |
INTRINSIC |
low complexity region
|
665 |
674 |
N/A |
INTRINSIC |
coiled coil region
|
844 |
869 |
N/A |
INTRINSIC |
coiled coil region
|
936 |
969 |
N/A |
INTRINSIC |
coiled coil region
|
1006 |
1032 |
N/A |
INTRINSIC |
SPEC
|
1427 |
1525 |
4.96e0 |
SMART |
SPEC
|
1528 |
1632 |
2.48e-1 |
SMART |
coiled coil region
|
1660 |
1699 |
N/A |
INTRINSIC |
SPEC
|
2034 |
2131 |
1.83e0 |
SMART |
coiled coil region
|
2173 |
2194 |
N/A |
INTRINSIC |
low complexity region
|
2295 |
2307 |
N/A |
INTRINSIC |
coiled coil region
|
2316 |
2348 |
N/A |
INTRINSIC |
SPEC
|
2720 |
2820 |
1.44e-5 |
SMART |
coiled coil region
|
2905 |
2934 |
N/A |
INTRINSIC |
coiled coil region
|
2962 |
2989 |
N/A |
INTRINSIC |
coiled coil region
|
3108 |
3136 |
N/A |
INTRINSIC |
low complexity region
|
3333 |
3350 |
N/A |
INTRINSIC |
low complexity region
|
3514 |
3523 |
N/A |
INTRINSIC |
low complexity region
|
3666 |
3676 |
N/A |
INTRINSIC |
coiled coil region
|
3678 |
3708 |
N/A |
INTRINSIC |
coiled coil region
|
3761 |
3788 |
N/A |
INTRINSIC |
coiled coil region
|
3846 |
3903 |
N/A |
INTRINSIC |
coiled coil region
|
4015 |
4067 |
N/A |
INTRINSIC |
low complexity region
|
4102 |
4115 |
N/A |
INTRINSIC |
coiled coil region
|
4483 |
4511 |
N/A |
INTRINSIC |
low complexity region
|
4557 |
4569 |
N/A |
INTRINSIC |
coiled coil region
|
4655 |
4688 |
N/A |
INTRINSIC |
low complexity region
|
4749 |
4763 |
N/A |
INTRINSIC |
SPEC
|
4827 |
4926 |
5.25e-1 |
SMART |
SPEC
|
4933 |
5038 |
2.64e-4 |
SMART |
SPEC
|
5048 |
5152 |
1.47e-2 |
SMART |
SPEC
|
5159 |
5259 |
4.29e0 |
SMART |
SPEC
|
5263 |
5371 |
4.47e0 |
SMART |
low complexity region
|
5373 |
5393 |
N/A |
INTRINSIC |
SPEC
|
5583 |
5681 |
5.7e-1 |
SMART |
Blast:SPEC
|
5690 |
5793 |
2e-53 |
BLAST |
SPEC
|
5800 |
5900 |
2.11e0 |
SMART |
SPEC
|
5907 |
6005 |
6.91e-8 |
SMART |
SPEC
|
6012 |
6119 |
4.45e-11 |
SMART |
SPEC
|
6126 |
6228 |
6.39e-12 |
SMART |
SPEC
|
6235 |
6335 |
7.75e-11 |
SMART |
SPEC
|
6539 |
6642 |
5.53e-7 |
SMART |
SPEC
|
6649 |
6753 |
5.12e-2 |
SMART |
KASH
|
6817 |
6874 |
8.17e-34 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143031
AA Change: T1243K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000119120 Gene: ENSMUSG00000063450 AA Change: T1243K
Domain | Start | End | E-Value | Type |
CH
|
33 |
134 |
7.97e-19 |
SMART |
low complexity region
|
151 |
175 |
N/A |
INTRINSIC |
CH
|
185 |
283 |
1.34e-20 |
SMART |
low complexity region
|
494 |
505 |
N/A |
INTRINSIC |
coiled coil region
|
541 |
572 |
N/A |
INTRINSIC |
coiled coil region
|
845 |
870 |
N/A |
INTRINSIC |
coiled coil region
|
937 |
970 |
N/A |
INTRINSIC |
coiled coil region
|
1007 |
1033 |
N/A |
INTRINSIC |
SPEC
|
1428 |
1526 |
4.96e0 |
SMART |
SPEC
|
1529 |
1633 |
2.48e-1 |
SMART |
coiled coil region
|
1661 |
1700 |
N/A |
INTRINSIC |
SPEC
|
2035 |
2132 |
1.83e0 |
SMART |
coiled coil region
|
2174 |
2195 |
N/A |
INTRINSIC |
low complexity region
|
2296 |
2308 |
N/A |
INTRINSIC |
coiled coil region
|
2317 |
2349 |
N/A |
INTRINSIC |
SPEC
|
2721 |
2821 |
1.44e-5 |
SMART |
coiled coil region
|
2906 |
2935 |
N/A |
INTRINSIC |
coiled coil region
|
2963 |
2990 |
N/A |
INTRINSIC |
coiled coil region
|
3109 |
3137 |
N/A |
INTRINSIC |
low complexity region
|
3334 |
3351 |
N/A |
INTRINSIC |
low complexity region
|
3515 |
3524 |
N/A |
INTRINSIC |
low complexity region
|
3667 |
3677 |
N/A |
INTRINSIC |
coiled coil region
|
3679 |
3709 |
N/A |
INTRINSIC |
coiled coil region
|
3762 |
3789 |
N/A |
INTRINSIC |
coiled coil region
|
3847 |
3904 |
N/A |
INTRINSIC |
coiled coil region
|
4016 |
4068 |
N/A |
INTRINSIC |
low complexity region
|
4103 |
4116 |
N/A |
INTRINSIC |
coiled coil region
|
4484 |
4512 |
N/A |
INTRINSIC |
low complexity region
|
4558 |
4570 |
N/A |
INTRINSIC |
coiled coil region
|
4656 |
4689 |
N/A |
INTRINSIC |
low complexity region
|
4750 |
4764 |
N/A |
INTRINSIC |
SPEC
|
4828 |
4927 |
5.25e-1 |
SMART |
SPEC
|
4934 |
5039 |
2.64e-4 |
SMART |
SPEC
|
5049 |
5153 |
1.47e-2 |
SMART |
SPEC
|
5160 |
5260 |
4.29e0 |
SMART |
SPEC
|
5264 |
5372 |
4.47e0 |
SMART |
low complexity region
|
5374 |
5394 |
N/A |
INTRINSIC |
SPEC
|
5584 |
5682 |
5.7e-1 |
SMART |
Blast:SPEC
|
5691 |
5794 |
2e-53 |
BLAST |
SPEC
|
5801 |
5901 |
2.11e0 |
SMART |
SPEC
|
5908 |
6006 |
6.91e-8 |
SMART |
SPEC
|
6013 |
6120 |
4.45e-11 |
SMART |
SPEC
|
6127 |
6229 |
6.39e-12 |
SMART |
SPEC
|
6236 |
6336 |
7.75e-11 |
SMART |
SPEC
|
6540 |
6643 |
5.53e-7 |
SMART |
SPEC
|
6650 |
6754 |
5.12e-2 |
SMART |
KASH
|
6813 |
6870 |
8.17e-34 |
SMART |
|
Meta Mutation Damage Score |
0.0898  |
Coding Region Coverage |
|
Het Detection Efficiency |
55.9% |
Validation Efficiency |
83% (206/248) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] PHENOTYPE: Homozygotes for one knock-out allele show normal myonuclear positioning of both synaptic and non-synaptic nuclei in skeletal muscle cells. Homozygotes for another knock-out allele exhibit a thickened epidermis and altered nuclear envelope architecture inprimary dermal fibroblasts and keratinocytes. Mice homozygous for a spontaneous mutation exhibit early retinal defects in photoreceptors, secondary Neurons, and muller glia. [provided by MGI curators]
|
Allele List at MGI |
All alleles(5) : Targeted, knock-out(2) Gene trapped(3) |
Other mutations in this stock |
Total: 15 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Dnmt1 |
G |
A |
9: 20,907,968 |
|
probably benign |
Het |
Eno1 |
A |
G |
4: 150,245,112 |
|
probably benign |
Het |
Ercc8 |
G |
A |
13: 108,160,723 |
G56R |
probably damaging |
Homo |
Gm8773 |
C |
T |
5: 5,574,060 |
|
probably benign |
Homo |
Idh1 |
A |
G |
1: 65,165,098 |
|
probably null |
Homo |
Incenp |
G |
A |
19: 9,893,818 |
T149I |
unknown |
Het |
Olfr1155 |
G |
A |
2: 87,943,598 |
S10F |
probably benign |
Het |
Olfr181 |
A |
T |
16: 58,926,526 |
I15K |
probably benign |
Homo |
Pdk2 |
T |
C |
11: 95,032,498 |
D100G |
possibly damaging |
Homo |
Prss56 |
T |
C |
1: 87,187,170 |
L465P |
probably benign |
Homo |
Slc10a3 |
G |
A |
X: 74,369,539 |
P416L |
probably damaging |
Homo |
Vwf |
T |
C |
6: 125,642,984 |
Y1542H |
probably damaging |
Homo |
Zc3h13 |
G |
A |
14: 75,316,039 |
R302Q |
probably damaging |
Het |
Zfhx4 |
G |
T |
3: 5,403,175 |
G2798W |
probably damaging |
Homo |
Zfp667 |
A |
G |
7: 6,290,545 |
T15A |
probably damaging |
Het |
|
Other mutations in Syne2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00329:Syne2
|
APN |
12 |
76031700 |
unclassified |
probably benign |
|
IGL00595:Syne2
|
APN |
12 |
75925646 |
missense |
possibly damaging |
0.76 |
IGL00672:Syne2
|
APN |
12 |
76064184 |
missense |
probably damaging |
1.00 |
IGL00781:Syne2
|
APN |
12 |
76024062 |
missense |
probably benign |
0.00 |
IGL00823:Syne2
|
APN |
12 |
75989242 |
missense |
probably damaging |
0.98 |
IGL01014:Syne2
|
APN |
12 |
75905277 |
missense |
probably damaging |
0.99 |
IGL01074:Syne2
|
APN |
12 |
76031587 |
nonsense |
probably null |
|
IGL01074:Syne2
|
APN |
12 |
75987011 |
missense |
probably benign |
0.00 |
IGL01324:Syne2
|
APN |
12 |
76043752 |
missense |
probably damaging |
1.00 |
IGL01325:Syne2
|
APN |
12 |
75926514 |
missense |
probably benign |
0.01 |
IGL01331:Syne2
|
APN |
12 |
75929253 |
splice site |
probably benign |
|
IGL01338:Syne2
|
APN |
12 |
76060226 |
missense |
possibly damaging |
0.55 |
IGL01373:Syne2
|
APN |
12 |
75987107 |
missense |
probably damaging |
1.00 |
IGL01446:Syne2
|
APN |
12 |
76041375 |
missense |
probably damaging |
1.00 |
IGL01556:Syne2
|
APN |
12 |
76087815 |
missense |
probably damaging |
1.00 |
IGL01585:Syne2
|
APN |
12 |
75949060 |
critical splice acceptor site |
probably null |
|
IGL01629:Syne2
|
APN |
12 |
76004603 |
missense |
possibly damaging |
0.49 |
IGL01686:Syne2
|
APN |
12 |
75909336 |
missense |
probably benign |
|
IGL01935:Syne2
|
APN |
12 |
75925313 |
missense |
probably damaging |
1.00 |
IGL01941:Syne2
|
APN |
12 |
75967220 |
missense |
probably benign |
0.01 |
IGL01956:Syne2
|
APN |
12 |
76097974 |
missense |
probably damaging |
1.00 |
IGL01967:Syne2
|
APN |
12 |
75941303 |
missense |
probably damaging |
1.00 |
IGL01990:Syne2
|
APN |
12 |
76054933 |
missense |
probably damaging |
1.00 |
IGL02000:Syne2
|
APN |
12 |
76015645 |
missense |
probably damaging |
0.99 |
IGL02063:Syne2
|
APN |
12 |
76052100 |
missense |
probably damaging |
0.96 |
IGL02069:Syne2
|
APN |
12 |
75927412 |
missense |
probably benign |
0.13 |
IGL02120:Syne2
|
APN |
12 |
75946706 |
missense |
probably damaging |
1.00 |
IGL02222:Syne2
|
APN |
12 |
75952843 |
missense |
probably damaging |
0.96 |
IGL02223:Syne2
|
APN |
12 |
76108305 |
missense |
probably benign |
0.00 |
IGL02321:Syne2
|
APN |
12 |
75918999 |
missense |
possibly damaging |
0.58 |
IGL02488:Syne2
|
APN |
12 |
75965738 |
missense |
probably benign |
0.24 |
IGL02491:Syne2
|
APN |
12 |
76072179 |
missense |
probably benign |
0.10 |
IGL02525:Syne2
|
APN |
12 |
76101003 |
missense |
probably damaging |
0.99 |
IGL02578:Syne2
|
APN |
12 |
76022279 |
missense |
possibly damaging |
0.76 |
IGL02615:Syne2
|
APN |
12 |
76096994 |
missense |
probably damaging |
1.00 |
IGL02702:Syne2
|
APN |
12 |
76097924 |
missense |
probably damaging |
1.00 |
IGL02726:Syne2
|
APN |
12 |
76015582 |
missense |
probably damaging |
0.99 |
IGL02795:Syne2
|
APN |
12 |
75966549 |
missense |
probably damaging |
0.99 |
IGL02803:Syne2
|
APN |
12 |
76031546 |
missense |
probably damaging |
1.00 |
IGL02814:Syne2
|
APN |
12 |
75945376 |
missense |
possibly damaging |
0.64 |
IGL03013:Syne2
|
APN |
12 |
75929337 |
missense |
probably benign |
0.00 |
IGL03131:Syne2
|
APN |
12 |
76057490 |
missense |
probably damaging |
1.00 |
IGL03152:Syne2
|
APN |
12 |
75965712 |
missense |
probably benign |
0.12 |
IGL03216:Syne2
|
APN |
12 |
75942961 |
splice site |
probably benign |
|
IGL03228:Syne2
|
APN |
12 |
75979912 |
missense |
probably benign |
0.01 |
IGL03259:Syne2
|
APN |
12 |
75989079 |
missense |
probably benign |
0.05 |
IGL03374:Syne2
|
APN |
12 |
76074586 |
missense |
possibly damaging |
0.66 |
IGL03375:Syne2
|
APN |
12 |
75925435 |
missense |
possibly damaging |
0.57 |
3-1:Syne2
|
UTSW |
12 |
75930632 |
missense |
probably benign |
0.02 |
K3955:Syne2
|
UTSW |
12 |
75930665 |
missense |
probably damaging |
1.00 |
P0026:Syne2
|
UTSW |
12 |
75880220 |
splice site |
probably benign |
|
PIT4514001:Syne2
|
UTSW |
12 |
76105015 |
missense |
probably damaging |
0.99 |
R0089:Syne2
|
UTSW |
12 |
75963876 |
missense |
probably damaging |
1.00 |
R0110:Syne2
|
UTSW |
12 |
76097960 |
nonsense |
probably null |
|
R0113:Syne2
|
UTSW |
12 |
75930578 |
missense |
probably damaging |
1.00 |
R0113:Syne2
|
UTSW |
12 |
76033722 |
missense |
probably damaging |
1.00 |
R0141:Syne2
|
UTSW |
12 |
75941298 |
missense |
probably damaging |
1.00 |
R0211:Syne2
|
UTSW |
12 |
76097957 |
missense |
probably damaging |
1.00 |
R0219:Syne2
|
UTSW |
12 |
76042004 |
missense |
probably damaging |
1.00 |
R0242:Syne2
|
UTSW |
12 |
76098034 |
missense |
probably damaging |
1.00 |
R0242:Syne2
|
UTSW |
12 |
76098034 |
missense |
probably damaging |
1.00 |
R0279:Syne2
|
UTSW |
12 |
76095613 |
missense |
probably damaging |
1.00 |
R0319:Syne2
|
UTSW |
12 |
76064162 |
missense |
probably damaging |
0.99 |
R0325:Syne2
|
UTSW |
12 |
75962641 |
missense |
probably benign |
0.00 |
R0329:Syne2
|
UTSW |
12 |
75966953 |
missense |
probably benign |
|
R0330:Syne2
|
UTSW |
12 |
75966953 |
missense |
probably benign |
|
R0361:Syne2
|
UTSW |
12 |
75918610 |
missense |
probably benign |
0.22 |
R0363:Syne2
|
UTSW |
12 |
76072207 |
missense |
probably damaging |
0.98 |
R0367:Syne2
|
UTSW |
12 |
75880177 |
missense |
probably damaging |
1.00 |
R0371:Syne2
|
UTSW |
12 |
75933845 |
missense |
probably damaging |
1.00 |
R0374:Syne2
|
UTSW |
12 |
75921226 |
nonsense |
probably null |
|
R0388:Syne2
|
UTSW |
12 |
75986975 |
missense |
probably benign |
0.41 |
R0411:Syne2
|
UTSW |
12 |
76059584 |
splice site |
probably null |
|
R0432:Syne2
|
UTSW |
12 |
75949064 |
missense |
probably damaging |
0.99 |
R0469:Syne2
|
UTSW |
12 |
75854149 |
critical splice donor site |
probably null |
|
R0492:Syne2
|
UTSW |
12 |
75982063 |
critical splice donor site |
probably null |
|
R0496:Syne2
|
UTSW |
12 |
76038940 |
missense |
possibly damaging |
0.80 |
R0504:Syne2
|
UTSW |
12 |
76033591 |
splice site |
probably benign |
|
R0505:Syne2
|
UTSW |
12 |
76099464 |
missense |
probably damaging |
1.00 |
R0510:Syne2
|
UTSW |
12 |
75854149 |
critical splice donor site |
probably null |
|
R0518:Syne2
|
UTSW |
12 |
76108862 |
critical splice acceptor site |
probably null |
|
R0539:Syne2
|
UTSW |
12 |
76024121 |
missense |
possibly damaging |
0.69 |
R0552:Syne2
|
UTSW |
12 |
75931004 |
missense |
probably benign |
0.00 |
R0557:Syne2
|
UTSW |
12 |
75929301 |
missense |
probably benign |
0.04 |
R0567:Syne2
|
UTSW |
12 |
75890230 |
missense |
probably damaging |
0.98 |
R0599:Syne2
|
UTSW |
12 |
76097960 |
nonsense |
probably null |
|
R0602:Syne2
|
UTSW |
12 |
76097960 |
nonsense |
probably null |
|
R0608:Syne2
|
UTSW |
12 |
75963813 |
missense |
probably damaging |
1.00 |
R0614:Syne2
|
UTSW |
12 |
75912353 |
splice site |
probably null |
|
R0636:Syne2
|
UTSW |
12 |
75930983 |
missense |
possibly damaging |
0.75 |
R0647:Syne2
|
UTSW |
12 |
75888203 |
missense |
probably benign |
|
R0654:Syne2
|
UTSW |
12 |
76097960 |
nonsense |
probably null |
|
R0658:Syne2
|
UTSW |
12 |
76094336 |
missense |
probably damaging |
1.00 |
R0666:Syne2
|
UTSW |
12 |
75923013 |
missense |
probably damaging |
0.99 |
R0707:Syne2
|
UTSW |
12 |
75982063 |
critical splice donor site |
probably null |
|
R0714:Syne2
|
UTSW |
12 |
76097960 |
nonsense |
probably null |
|
R0841:Syne2
|
UTSW |
12 |
76074435 |
splice site |
probably benign |
|
R0848:Syne2
|
UTSW |
12 |
76097959 |
frame shift |
probably null |
|
R0848:Syne2
|
UTSW |
12 |
76097960 |
nonsense |
probably null |
|
R1077:Syne2
|
UTSW |
12 |
76042035 |
missense |
possibly damaging |
0.94 |
R1103:Syne2
|
UTSW |
12 |
76109835 |
missense |
probably benign |
0.00 |
R1144:Syne2
|
UTSW |
12 |
75966524 |
missense |
probably benign |
0.04 |
R1194:Syne2
|
UTSW |
12 |
75934513 |
missense |
probably damaging |
1.00 |
R1247:Syne2
|
UTSW |
12 |
75967490 |
missense |
probably benign |
0.39 |
R1276:Syne2
|
UTSW |
12 |
75941189 |
critical splice acceptor site |
probably null |
|
R1343:Syne2
|
UTSW |
12 |
76033643 |
missense |
probably damaging |
1.00 |
R1442:Syne2
|
UTSW |
12 |
75946715 |
missense |
probably damaging |
1.00 |
R1448:Syne2
|
UTSW |
12 |
76020325 |
splice site |
probably null |
|
R1448:Syne2
|
UTSW |
12 |
76052178 |
missense |
possibly damaging |
0.56 |
R1522:Syne2
|
UTSW |
12 |
76103783 |
missense |
probably damaging |
0.98 |
R1528:Syne2
|
UTSW |
12 |
75966100 |
missense |
probably benign |
0.00 |
R1636:Syne2
|
UTSW |
12 |
76004732 |
missense |
probably benign |
0.01 |
R1637:Syne2
|
UTSW |
12 |
75996002 |
missense |
probably damaging |
1.00 |
R1650:Syne2
|
UTSW |
12 |
75904259 |
nonsense |
probably null |
|
R1654:Syne2
|
UTSW |
12 |
76101094 |
missense |
possibly damaging |
0.56 |
R1714:Syne2
|
UTSW |
12 |
76054939 |
missense |
probably benign |
0.26 |
R1750:Syne2
|
UTSW |
12 |
76052805 |
missense |
probably damaging |
1.00 |
R1772:Syne2
|
UTSW |
12 |
75938729 |
missense |
probably benign |
0.19 |
R1797:Syne2
|
UTSW |
12 |
75963783 |
missense |
probably benign |
0.00 |
R1830:Syne2
|
UTSW |
12 |
76109862 |
missense |
probably damaging |
1.00 |
R1837:Syne2
|
UTSW |
12 |
75967660 |
missense |
probably damaging |
0.99 |
R1908:Syne2
|
UTSW |
12 |
76094279 |
critical splice acceptor site |
probably null |
|
R1913:Syne2
|
UTSW |
12 |
75899246 |
missense |
possibly damaging |
0.60 |
R1944:Syne2
|
UTSW |
12 |
76074544 |
missense |
probably damaging |
1.00 |
R1950:Syne2
|
UTSW |
12 |
75952870 |
missense |
probably benign |
|
R1958:Syne2
|
UTSW |
12 |
75969545 |
missense |
probably benign |
0.11 |
R2018:Syne2
|
UTSW |
12 |
76074579 |
missense |
probably damaging |
1.00 |
R2037:Syne2
|
UTSW |
12 |
76025569 |
missense |
probably benign |
0.04 |
R2067:Syne2
|
UTSW |
12 |
75888342 |
critical splice donor site |
probably null |
|
R2073:Syne2
|
UTSW |
12 |
76015579 |
missense |
possibly damaging |
0.54 |
R2099:Syne2
|
UTSW |
12 |
75979973 |
missense |
probably benign |
0.06 |
R2102:Syne2
|
UTSW |
12 |
76028079 |
missense |
probably benign |
0.01 |
R2134:Syne2
|
UTSW |
12 |
75952786 |
missense |
probably damaging |
0.99 |
R2135:Syne2
|
UTSW |
12 |
75952786 |
missense |
probably damaging |
0.99 |
R2157:Syne2
|
UTSW |
12 |
76094456 |
missense |
probably damaging |
1.00 |
R2173:Syne2
|
UTSW |
12 |
76100989 |
splice site |
probably benign |
|
R2248:Syne2
|
UTSW |
12 |
76096904 |
missense |
probably damaging |
1.00 |
R2276:Syne2
|
UTSW |
12 |
75927466 |
missense |
possibly damaging |
0.87 |
R2277:Syne2
|
UTSW |
12 |
75927466 |
missense |
possibly damaging |
0.87 |
R2278:Syne2
|
UTSW |
12 |
75927466 |
missense |
possibly damaging |
0.87 |
R2279:Syne2
|
UTSW |
12 |
75927466 |
missense |
possibly damaging |
0.87 |
R2483:Syne2
|
UTSW |
12 |
76095537 |
missense |
probably damaging |
1.00 |
R2877:Syne2
|
UTSW |
12 |
76000831 |
missense |
probably benign |
0.00 |
R2884:Syne2
|
UTSW |
12 |
75963759 |
missense |
probably benign |
0.00 |
R3119:Syne2
|
UTSW |
12 |
75909284 |
missense |
probably benign |
0.01 |
R3499:Syne2
|
UTSW |
12 |
76054978 |
splice site |
probably null |
|
R3827:Syne2
|
UTSW |
12 |
75987031 |
missense |
probably benign |
0.02 |
R3847:Syne2
|
UTSW |
12 |
76048622 |
missense |
probably damaging |
1.00 |
R3849:Syne2
|
UTSW |
12 |
76046065 |
nonsense |
probably null |
|
R3850:Syne2
|
UTSW |
12 |
76048622 |
missense |
probably damaging |
1.00 |
R3859:Syne2
|
UTSW |
12 |
75929784 |
missense |
possibly damaging |
0.55 |
R3861:Syne2
|
UTSW |
12 |
75966479 |
missense |
probably damaging |
0.98 |
R4078:Syne2
|
UTSW |
12 |
76035624 |
missense |
probably damaging |
1.00 |
R4116:Syne2
|
UTSW |
12 |
75931079 |
missense |
probably damaging |
1.00 |
R4326:Syne2
|
UTSW |
12 |
75952742 |
missense |
probably damaging |
1.00 |
R4335:Syne2
|
UTSW |
12 |
76028092 |
missense |
probably damaging |
1.00 |
R4410:Syne2
|
UTSW |
12 |
76094393 |
missense |
probably damaging |
1.00 |
R4412:Syne2
|
UTSW |
12 |
76106060 |
missense |
probably benign |
0.01 |
R4444:Syne2
|
UTSW |
12 |
76023030 |
missense |
probably damaging |
1.00 |
R4595:Syne2
|
UTSW |
12 |
75967071 |
missense |
possibly damaging |
0.88 |
R4604:Syne2
|
UTSW |
12 |
75967710 |
missense |
probably damaging |
0.99 |
R4606:Syne2
|
UTSW |
12 |
75989253 |
missense |
probably damaging |
1.00 |
R4651:Syne2
|
UTSW |
12 |
75989239 |
missense |
probably damaging |
0.99 |
R4656:Syne2
|
UTSW |
12 |
76031373 |
missense |
probably damaging |
1.00 |
R4675:Syne2
|
UTSW |
12 |
75949301 |
missense |
probably damaging |
1.00 |
R4790:Syne2
|
UTSW |
12 |
76020391 |
missense |
probably benign |
0.19 |
R4791:Syne2
|
UTSW |
12 |
75909244 |
missense |
possibly damaging |
0.96 |
R4799:Syne2
|
UTSW |
12 |
75899167 |
missense |
probably benign |
0.04 |
R4836:Syne2
|
UTSW |
12 |
75979819 |
missense |
probably damaging |
1.00 |
R4880:Syne2
|
UTSW |
12 |
75979819 |
missense |
probably damaging |
1.00 |
R4881:Syne2
|
UTSW |
12 |
75979819 |
missense |
probably damaging |
1.00 |
R4899:Syne2
|
UTSW |
12 |
75854101 |
missense |
probably benign |
0.03 |
R4934:Syne2
|
UTSW |
12 |
75899272 |
missense |
probably benign |
0.14 |
R4981:Syne2
|
UTSW |
12 |
75941219 |
missense |
probably damaging |
0.98 |
R4996:Syne2
|
UTSW |
12 |
75943950 |
missense |
possibly damaging |
0.87 |
R5056:Syne2
|
UTSW |
12 |
75909131 |
unclassified |
probably benign |
|
R5066:Syne2
|
UTSW |
12 |
75966551 |
missense |
probably benign |
0.05 |
R5095:Syne2
|
UTSW |
12 |
75952826 |
missense |
probably damaging |
0.99 |
R5151:Syne2
|
UTSW |
12 |
76043710 |
missense |
probably benign |
0.06 |
R5193:Syne2
|
UTSW |
12 |
76094420 |
missense |
probably damaging |
1.00 |
R5267:Syne2
|
UTSW |
12 |
75938741 |
missense |
possibly damaging |
0.74 |
R5288:Syne2
|
UTSW |
12 |
76099338 |
missense |
possibly damaging |
0.94 |
R5402:Syne2
|
UTSW |
12 |
76059439 |
missense |
probably damaging |
0.98 |
R5434:Syne2
|
UTSW |
12 |
75971875 |
missense |
probably damaging |
1.00 |
R5441:Syne2
|
UTSW |
12 |
75989143 |
missense |
possibly damaging |
0.75 |
R5488:Syne2
|
UTSW |
12 |
75888172 |
missense |
probably benign |
0.13 |
R5497:Syne2
|
UTSW |
12 |
75880389 |
missense |
probably benign |
0.19 |
R5506:Syne2
|
UTSW |
12 |
75938721 |
missense |
probably benign |
0.01 |
R5509:Syne2
|
UTSW |
12 |
75921244 |
missense |
probably damaging |
1.00 |
R5518:Syne2
|
UTSW |
12 |
75945170 |
missense |
possibly damaging |
0.88 |
R5561:Syne2
|
UTSW |
12 |
76094458 |
nonsense |
probably null |
|
R5581:Syne2
|
UTSW |
12 |
75945085 |
missense |
probably benign |
0.01 |
R5625:Syne2
|
UTSW |
12 |
76095112 |
missense |
probably benign |
0.06 |
R5642:Syne2
|
UTSW |
12 |
75918532 |
missense |
probably damaging |
1.00 |
R5665:Syne2
|
UTSW |
12 |
76108217 |
critical splice donor site |
probably null |
|
R5666:Syne2
|
UTSW |
12 |
75950959 |
missense |
probably benign |
0.16 |
R5670:Syne2
|
UTSW |
12 |
75950959 |
missense |
probably benign |
0.16 |
R5691:Syne2
|
UTSW |
12 |
76027856 |
frame shift |
probably null |
|
R5696:Syne2
|
UTSW |
12 |
75994145 |
missense |
probably benign |
0.00 |
R5720:Syne2
|
UTSW |
12 |
75967667 |
missense |
probably benign |
0.03 |
R5739:Syne2
|
UTSW |
12 |
75997465 |
missense |
possibly damaging |
0.53 |
R5840:Syne2
|
UTSW |
12 |
75880291 |
splice site |
probably null |
|
R5846:Syne2
|
UTSW |
12 |
76028124 |
missense |
probably benign |
0.01 |
R5850:Syne2
|
UTSW |
12 |
76097975 |
missense |
probably damaging |
1.00 |
R5889:Syne2
|
UTSW |
12 |
76072252 |
nonsense |
probably null |
|
R5912:Syne2
|
UTSW |
12 |
75908947 |
critical splice donor site |
probably null |
|
R5931:Syne2
|
UTSW |
12 |
76008865 |
missense |
probably benign |
0.37 |
R5985:Syne2
|
UTSW |
12 |
75966159 |
missense |
probably damaging |
0.96 |
R5988:Syne2
|
UTSW |
12 |
75929417 |
critical splice donor site |
probably null |
|
R5990:Syne2
|
UTSW |
12 |
76024144 |
missense |
probably benign |
0.10 |
R6038:Syne2
|
UTSW |
12 |
75878384 |
nonsense |
probably null |
|
R6038:Syne2
|
UTSW |
12 |
75878384 |
nonsense |
probably null |
|
R6132:Syne2
|
UTSW |
12 |
75945147 |
missense |
probably benign |
0.14 |
R6136:Syne2
|
UTSW |
12 |
75905325 |
missense |
probably benign |
0.24 |
R6229:Syne2
|
UTSW |
12 |
75921220 |
missense |
probably benign |
0.00 |
R6252:Syne2
|
UTSW |
12 |
75969436 |
missense |
probably benign |
0.39 |
R6271:Syne2
|
UTSW |
12 |
75890381 |
missense |
probably damaging |
1.00 |
R6320:Syne2
|
UTSW |
12 |
76061650 |
missense |
probably damaging |
0.96 |
R6339:Syne2
|
UTSW |
12 |
75989153 |
missense |
probably benign |
0.34 |
R6380:Syne2
|
UTSW |
12 |
76104980 |
missense |
probably damaging |
0.98 |
R6394:Syne2
|
UTSW |
12 |
75990495 |
missense |
probably benign |
0.09 |
R6419:Syne2
|
UTSW |
12 |
76096966 |
missense |
probably damaging |
1.00 |
R6426:Syne2
|
UTSW |
12 |
75923083 |
missense |
probably null |
0.97 |
R6434:Syne2
|
UTSW |
12 |
76041456 |
missense |
probably damaging |
0.99 |
R6437:Syne2
|
UTSW |
12 |
75990414 |
missense |
possibly damaging |
0.87 |
R6466:Syne2
|
UTSW |
12 |
75943901 |
missense |
probably damaging |
0.97 |
R6501:Syne2
|
UTSW |
12 |
76027847 |
splice site |
probably null |
|
R6552:Syne2
|
UTSW |
12 |
75890241 |
missense |
possibly damaging |
0.89 |
R6744:Syne2
|
UTSW |
12 |
76074447 |
missense |
probably damaging |
1.00 |
R6810:Syne2
|
UTSW |
12 |
75942885 |
missense |
probably benign |
0.00 |
R6831:Syne2
|
UTSW |
12 |
75966794 |
missense |
probably benign |
0.39 |
R6861:Syne2
|
UTSW |
12 |
75909266 |
missense |
probably damaging |
1.00 |
R6875:Syne2
|
UTSW |
12 |
76035630 |
missense |
probably damaging |
0.99 |
R6892:Syne2
|
UTSW |
12 |
75962528 |
missense |
probably damaging |
0.98 |
R6899:Syne2
|
UTSW |
12 |
76095729 |
splice site |
probably null |
|
R6906:Syne2
|
UTSW |
12 |
75995986 |
missense |
possibly damaging |
0.93 |
R6909:Syne2
|
UTSW |
12 |
76064195 |
missense |
probably benign |
0.04 |
R6925:Syne2
|
UTSW |
12 |
75854132 |
missense |
possibly damaging |
0.58 |
R6949:Syne2
|
UTSW |
12 |
75965997 |
missense |
probably benign |
0.00 |
R6952:Syne2
|
UTSW |
12 |
75927431 |
missense |
possibly damaging |
0.76 |
R6996:Syne2
|
UTSW |
12 |
76028012 |
missense |
probably damaging |
0.99 |
R7080:Syne2
|
UTSW |
12 |
76052727 |
missense |
probably benign |
0.00 |
R7083:Syne2
|
UTSW |
12 |
75943888 |
missense |
probably damaging |
1.00 |
R7090:Syne2
|
UTSW |
12 |
75942351 |
missense |
probably benign |
|
R7144:Syne2
|
UTSW |
12 |
76005378 |
missense |
probably benign |
0.03 |
R7154:Syne2
|
UTSW |
12 |
76059457 |
missense |
possibly damaging |
0.63 |
R7177:Syne2
|
UTSW |
12 |
75971880 |
nonsense |
probably null |
|
R7190:Syne2
|
UTSW |
12 |
76066587 |
missense |
probably benign |
0.01 |
R7206:Syne2
|
UTSW |
12 |
76004757 |
missense |
probably benign |
0.02 |
R7208:Syne2
|
UTSW |
12 |
76031398 |
splice site |
probably null |
|
R7230:Syne2
|
UTSW |
12 |
75933900 |
missense |
probably benign |
0.12 |
R7260:Syne2
|
UTSW |
12 |
75945079 |
missense |
probably damaging |
1.00 |
R7272:Syne2
|
UTSW |
12 |
76048643 |
missense |
probably benign |
0.00 |
R7296:Syne2
|
UTSW |
12 |
76103036 |
missense |
probably benign |
0.00 |
R7322:Syne2
|
UTSW |
12 |
75984024 |
missense |
probably damaging |
1.00 |
R7329:Syne2
|
UTSW |
12 |
75966984 |
missense |
probably benign |
0.01 |
R7332:Syne2
|
UTSW |
12 |
75967755 |
critical splice donor site |
probably null |
|
R7381:Syne2
|
UTSW |
12 |
75926489 |
missense |
probably benign |
0.11 |
R7401:Syne2
|
UTSW |
12 |
75967381 |
missense |
probably damaging |
0.98 |
R7403:Syne2
|
UTSW |
12 |
75915246 |
missense |
not run |
|
R7429:Syne2
|
UTSW |
12 |
75933996 |
missense |
probably damaging |
1.00 |
R7429:Syne2
|
UTSW |
12 |
76040410 |
nonsense |
probably null |
|
R7430:Syne2
|
UTSW |
12 |
75933996 |
missense |
probably damaging |
1.00 |
R7430:Syne2
|
UTSW |
12 |
76040410 |
nonsense |
probably null |
|
R7438:Syne2
|
UTSW |
12 |
76015563 |
missense |
probably benign |
0.04 |
R7447:Syne2
|
UTSW |
12 |
76028079 |
missense |
probably benign |
0.01 |
R7466:Syne2
|
UTSW |
12 |
76046186 |
missense |
possibly damaging |
0.92 |
R7493:Syne2
|
UTSW |
12 |
75965880 |
missense |
probably benign |
0.00 |
R7502:Syne2
|
UTSW |
12 |
76094326 |
missense |
probably damaging |
1.00 |
R7543:Syne2
|
UTSW |
12 |
75906842 |
missense |
possibly damaging |
0.93 |
R7569:Syne2
|
UTSW |
12 |
75927390 |
missense |
probably benign |
0.00 |
R7599:Syne2
|
UTSW |
12 |
75966371 |
missense |
probably benign |
0.04 |
R7618:Syne2
|
UTSW |
12 |
75945334 |
missense |
probably benign |
0.01 |
R7639:Syne2
|
UTSW |
12 |
75934499 |
missense |
probably damaging |
1.00 |
R7698:Syne2
|
UTSW |
12 |
75949064 |
missense |
probably damaging |
0.99 |
R7702:Syne2
|
UTSW |
12 |
75990387 |
missense |
probably benign |
0.16 |
R7737:Syne2
|
UTSW |
12 |
75942848 |
missense |
probably damaging |
1.00 |
R7742:Syne2
|
UTSW |
12 |
76059435 |
missense |
probably benign |
0.02 |
R7753:Syne2
|
UTSW |
12 |
76038923 |
missense |
probably benign |
0.43 |
R7755:Syne2
|
UTSW |
12 |
75997407 |
missense |
probably benign |
0.19 |
R7757:Syne2
|
UTSW |
12 |
76061779 |
missense |
possibly damaging |
0.87 |
R7790:Syne2
|
UTSW |
12 |
75929103 |
splice site |
probably null |
|
R7808:Syne2
|
UTSW |
12 |
75983727 |
splice site |
probably null |
|
R7809:Syne2
|
UTSW |
12 |
75967456 |
missense |
probably benign |
0.00 |
R7811:Syne2
|
UTSW |
12 |
75983727 |
splice site |
probably null |
|
R7834:Syne2
|
UTSW |
12 |
75967247 |
missense |
probably benign |
0.00 |
R7853:Syne2
|
UTSW |
12 |
76031504 |
missense |
probably damaging |
1.00 |
R7867:Syne2
|
UTSW |
12 |
75983727 |
splice site |
probably null |
|
R7896:Syne2
|
UTSW |
12 |
76035623 |
missense |
probably damaging |
0.99 |
R7903:Syne2
|
UTSW |
12 |
76064184 |
missense |
probably damaging |
1.00 |
R7944:Syne2
|
UTSW |
12 |
75904305 |
missense |
probably damaging |
0.98 |
R7945:Syne2
|
UTSW |
12 |
75904305 |
missense |
probably damaging |
0.98 |
R7963:Syne2
|
UTSW |
12 |
76020400 |
missense |
probably benign |
0.38 |
R7996:Syne2
|
UTSW |
12 |
76004667 |
missense |
probably damaging |
1.00 |
R7998:Syne2
|
UTSW |
12 |
76087858 |
missense |
probably damaging |
1.00 |
R8010:Syne2
|
UTSW |
12 |
75930738 |
missense |
probably benign |
0.39 |
R8016:Syne2
|
UTSW |
12 |
75942907 |
missense |
probably benign |
0.19 |
R8140:Syne2
|
UTSW |
12 |
75912353 |
missense |
possibly damaging |
0.63 |
R8141:Syne2
|
UTSW |
12 |
76061668 |
missense |
possibly damaging |
0.66 |
R8206:Syne2
|
UTSW |
12 |
76015591 |
missense |
probably benign |
0.03 |
R8258:Syne2
|
UTSW |
12 |
75949369 |
missense |
possibly damaging |
0.95 |
R8259:Syne2
|
UTSW |
12 |
75949369 |
missense |
possibly damaging |
0.95 |
R8320:Syne2
|
UTSW |
12 |
76103830 |
missense |
probably damaging |
0.99 |
R8464:Syne2
|
UTSW |
12 |
75965772 |
missense |
probably benign |
0.39 |
R8465:Syne2
|
UTSW |
12 |
75854124 |
missense |
possibly damaging |
0.92 |
R8486:Syne2
|
UTSW |
12 |
76042107 |
nonsense |
probably null |
|
R8488:Syne2
|
UTSW |
12 |
75965772 |
missense |
probably benign |
0.39 |
R8511:Syne2
|
UTSW |
12 |
76008873 |
missense |
probably benign |
0.03 |
R8540:Syne2
|
UTSW |
12 |
76094374 |
missense |
probably damaging |
1.00 |
R8711:Syne2
|
UTSW |
12 |
76057484 |
missense |
probably damaging |
1.00 |
R8722:Syne2
|
UTSW |
12 |
75925321 |
missense |
probably benign |
0.04 |
R8827:Syne2
|
UTSW |
12 |
76048583 |
missense |
probably benign |
0.00 |
R8867:Syne2
|
UTSW |
12 |
75942846 |
missense |
probably damaging |
1.00 |
R8878:Syne2
|
UTSW |
12 |
75905293 |
missense |
probably benign |
|
R8924:Syne2
|
UTSW |
12 |
75896670 |
missense |
probably damaging |
0.97 |
R8966:Syne2
|
UTSW |
12 |
76099423 |
missense |
probably damaging |
1.00 |
R9007:Syne2
|
UTSW |
12 |
76099450 |
missense |
possibly damaging |
0.82 |
R9019:Syne2
|
UTSW |
12 |
75952844 |
missense |
possibly damaging |
0.93 |
R9057:Syne2
|
UTSW |
12 |
75890393 |
missense |
probably damaging |
1.00 |
R9067:Syne2
|
UTSW |
12 |
75904220 |
missense |
probably damaging |
1.00 |
R9081:Syne2
|
UTSW |
12 |
75969516 |
nonsense |
probably null |
|
R9091:Syne2
|
UTSW |
12 |
75931060 |
missense |
probably damaging |
1.00 |
R9123:Syne2
|
UTSW |
12 |
75994064 |
missense |
probably damaging |
1.00 |
R9147:Syne2
|
UTSW |
12 |
75890384 |
missense |
probably damaging |
1.00 |
R9148:Syne2
|
UTSW |
12 |
75890384 |
missense |
probably damaging |
1.00 |
R9163:Syne2
|
UTSW |
12 |
75962575 |
missense |
possibly damaging |
0.88 |
R9192:Syne2
|
UTSW |
12 |
76109929 |
missense |
probably damaging |
1.00 |
R9270:Syne2
|
UTSW |
12 |
75931060 |
missense |
probably damaging |
1.00 |
R9292:Syne2
|
UTSW |
12 |
75951049 |
missense |
probably benign |
|
R9397:Syne2
|
UTSW |
12 |
75994075 |
missense |
possibly damaging |
0.59 |
X0019:Syne2
|
UTSW |
12 |
75973287 |
missense |
probably benign |
0.41 |
X0026:Syne2
|
UTSW |
12 |
76101016 |
missense |
possibly damaging |
0.78 |
X0061:Syne2
|
UTSW |
12 |
75927511 |
critical splice donor site |
probably null |
|
X0066:Syne2
|
UTSW |
12 |
76096927 |
missense |
probably damaging |
1.00 |
Z1176:Syne2
|
UTSW |
12 |
75967541 |
missense |
probably benign |
0.01 |
Z1176:Syne2
|
UTSW |
12 |
76040383 |
missense |
possibly damaging |
0.48 |
Z1177:Syne2
|
UTSW |
12 |
75973423 |
missense |
probably damaging |
1.00 |
Z1177:Syne2
|
UTSW |
12 |
76064138 |
missense |
possibly damaging |
0.51 |
Z1177:Syne2
|
UTSW |
12 |
76097974 |
missense |
probably damaging |
1.00 |
|
Nature of Mutation |
DNA sequencing using the SOLiD technique identified a C to A transversion at position 3934 of the Syne2 transcript, in exon 29 of 116 total exons (NM_001005510). Multiple transcripts are annotated in the Vega and Ensembl databases. The mutation causes a threonine to lysine change at amino acid 1242 of the encoded protein (NP_001005510). The mutation has been confirmed by DNA sequencing using the Sanger method (see trace files for B5639).
|
Protein Function and Prediction |
The Syne2 gene encodes multiple isoforms of a protein known as Nesprin-2. The standard isoform is 6874 amino acids long. Nesprin-2 is a multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. It is a component of SUN-protein-containing multivariate complexes also called LINC complexes, which link the nucleoskeleton and cytoskeleton by providing versatile outer nuclear membrane attachment sites for cytoskeletal filaments. Nesprin-2 connects nuclei to the cytoskeleton by interacting with the nuclear envelope and with F-actin in the cytoplasm. It is required for centrosome migration to the apical cell surface during early ciliogenesis. The cytoplasmic domain of the protein contains an actin-binding domain at residues 1-286, two CH domains at residues 31-136 and 183-288, followed by 17 spectrin repeats, and a highly hydrophobic nuclear envelope localization domain known as the KASH domain at residues 6815-6874 (Uniprot Q6ZWQ0). Heterozygous mutations in human SYNE2 cause Emery-Dreifuss muscular dystrophy (EDMD5; OMIM #612999).
The mutation is predicted to be probably benign by the PolyPhen-2 program.
|
Posted On |
2010-11-23 |