Incidental Mutation 'BB018:Syne3'
ID |
643025 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Syne3
|
Ensembl Gene |
ENSMUSG00000054150 |
Gene Name |
spectrin repeat containing, nuclear envelope family member 3 |
Synonyms |
4831426I19Rik, nesprin-3beta, nesprin-3alpha, nesprin-3 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
BB018
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
104896192-104976068 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 104929491 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 243
(V243E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093090
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067005]
[ENSMUST00000095439]
[ENSMUST00000109927]
|
AlphaFold |
Q4FZC9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067005
AA Change: V156E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000065771 Gene: ENSMUSG00000054150 AA Change: V156E
Domain | Start | End | E-Value | Type |
Blast:SPEC
|
29 |
127 |
8e-24 |
BLAST |
SPEC
|
136 |
237 |
1.01e-1 |
SMART |
Blast:SPEC
|
252 |
446 |
9e-55 |
BLAST |
low complexity region
|
447 |
459 |
N/A |
INTRINSIC |
low complexity region
|
495 |
514 |
N/A |
INTRINSIC |
SPEC
|
563 |
664 |
1.74e-1 |
SMART |
Blast:SPEC
|
722 |
818 |
1e-12 |
BLAST |
KASH
|
832 |
888 |
7.52e-24 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095439
AA Change: V243E
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000093090 Gene: ENSMUSG00000054150 AA Change: V243E
Domain | Start | End | E-Value | Type |
SPEC
|
7 |
109 |
1.22e-1 |
SMART |
SPEC
|
223 |
324 |
1.01e-1 |
SMART |
Blast:SPEC
|
339 |
533 |
2e-54 |
BLAST |
low complexity region
|
534 |
546 |
N/A |
INTRINSIC |
low complexity region
|
582 |
601 |
N/A |
INTRINSIC |
SPEC
|
650 |
751 |
1.74e-1 |
SMART |
Blast:SPEC
|
809 |
905 |
1e-12 |
BLAST |
KASH
|
919 |
975 |
7.52e-24 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109927
AA Change: V156E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000105553 Gene: ENSMUSG00000054150 AA Change: V156E
Domain | Start | End | E-Value | Type |
Blast:SPEC
|
29 |
127 |
8e-24 |
BLAST |
SPEC
|
136 |
237 |
1.01e-1 |
SMART |
Blast:SPEC
|
252 |
446 |
9e-55 |
BLAST |
low complexity region
|
447 |
459 |
N/A |
INTRINSIC |
low complexity region
|
495 |
514 |
N/A |
INTRINSIC |
SPEC
|
563 |
664 |
1.74e-1 |
SMART |
Blast:SPEC
|
722 |
818 |
1e-12 |
BLAST |
KASH
|
832 |
888 |
7.52e-24 |
SMART |
|
Meta Mutation Damage Score |
0.4127 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp2 |
A |
T |
2: 91,037,060 (GRCm39) |
|
probably null |
Het |
Aire |
G |
A |
10: 77,866,130 (GRCm39) |
A536V |
probably damaging |
Het |
Aox4 |
A |
G |
1: 58,294,645 (GRCm39) |
I951M |
probably benign |
Het |
Ash1l |
G |
T |
3: 88,950,848 (GRCm39) |
C2190F |
probably damaging |
Het |
C1s1 |
C |
T |
6: 124,510,359 (GRCm39) |
V363M |
probably damaging |
Het |
Diaph3 |
A |
T |
14: 87,352,456 (GRCm39) |
D48E |
possibly damaging |
Het |
Dnajc13 |
A |
G |
9: 104,095,763 (GRCm39) |
V559A |
probably benign |
Het |
Dzank1 |
T |
C |
2: 144,323,614 (GRCm39) |
I610V |
probably benign |
Het |
F7 |
A |
G |
8: 13,085,209 (GRCm39) |
I412V |
probably benign |
Het |
Flt1 |
A |
G |
5: 147,525,382 (GRCm39) |
S919P |
probably damaging |
Het |
Igkv4-70 |
C |
A |
6: 69,244,975 (GRCm39) |
R82L |
probably damaging |
Het |
Lnp1 |
T |
A |
16: 56,748,281 (GRCm39) |
R4* |
probably null |
Het |
Lrrc3b |
T |
C |
14: 15,358,018 (GRCm38) |
N196S |
probably benign |
Het |
Mlxip |
A |
G |
5: 123,588,558 (GRCm39) |
D816G |
probably damaging |
Het |
Myh7 |
C |
T |
14: 55,221,119 (GRCm39) |
E935K |
possibly damaging |
Het |
Myom3 |
A |
T |
4: 135,516,947 (GRCm39) |
H839L |
probably benign |
Het |
Nebl |
C |
T |
2: 17,381,433 (GRCm39) |
|
probably null |
Het |
Ninj1 |
T |
C |
13: 49,347,432 (GRCm39) |
I99T |
probably damaging |
Het |
Or11g1 |
A |
C |
14: 50,651,786 (GRCm39) |
M262L |
probably damaging |
Het |
Or2l5 |
A |
G |
16: 19,334,258 (GRCm39) |
S43P |
possibly damaging |
Het |
Or4a76 |
T |
A |
2: 89,460,448 (GRCm39) |
I265F |
possibly damaging |
Het |
Or8g55 |
A |
T |
9: 39,785,146 (GRCm39) |
T192S |
possibly damaging |
Het |
Otop1 |
A |
G |
5: 38,445,364 (GRCm39) |
H174R |
probably damaging |
Het |
Pcdhb16 |
A |
G |
18: 37,611,510 (GRCm39) |
N157D |
possibly damaging |
Het |
Prss44 |
A |
C |
9: 110,643,746 (GRCm39) |
Q130P |
probably damaging |
Het |
Ptpn4 |
T |
A |
1: 119,607,925 (GRCm39) |
M712L |
probably damaging |
Het |
Ptprh |
C |
A |
7: 4,574,987 (GRCm39) |
S344I |
probably benign |
Het |
Rps6kl1 |
T |
C |
12: 85,196,566 (GRCm39) |
I33V |
possibly damaging |
Het |
Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Scn1a |
T |
C |
2: 66,148,156 (GRCm39) |
S110G |
probably damaging |
Het |
Sdk2 |
C |
A |
11: 113,784,267 (GRCm39) |
K157N |
possibly damaging |
Het |
Serpina1d |
A |
T |
12: 103,733,815 (GRCm39) |
V163D |
probably damaging |
Het |
Serpina3g |
T |
C |
12: 104,205,428 (GRCm39) |
S56P |
probably benign |
Het |
Slc4a4 |
T |
C |
5: 89,318,640 (GRCm39) |
L636P |
probably benign |
Het |
Slc6a1 |
T |
C |
6: 114,288,863 (GRCm39) |
F474S |
probably benign |
Het |
Slco6d1 |
A |
G |
1: 98,356,141 (GRCm39) |
D235G |
probably damaging |
Het |
Srgn |
A |
T |
10: 62,330,763 (GRCm39) |
M114K |
possibly damaging |
Het |
Tcf19 |
A |
G |
17: 35,825,804 (GRCm39) |
F118L |
probably damaging |
Het |
Tln2 |
A |
T |
9: 67,165,742 (GRCm39) |
|
probably null |
Het |
Tnxb |
A |
G |
17: 34,907,672 (GRCm39) |
T1239A |
probably damaging |
Het |
Traip |
A |
G |
9: 107,848,241 (GRCm39) |
I453M |
probably benign |
Het |
Vmn1r157 |
C |
T |
7: 22,461,210 (GRCm39) |
A30V |
probably damaging |
Het |
Vmn1r233 |
G |
A |
17: 21,214,125 (GRCm39) |
A275V |
probably benign |
Het |
Vps13d |
G |
A |
4: 144,822,854 (GRCm39) |
R2976* |
probably null |
Het |
Wdr75 |
T |
C |
1: 45,858,795 (GRCm39) |
F655L |
probably benign |
Het |
Wwp1 |
A |
G |
4: 19,650,114 (GRCm39) |
|
probably null |
Het |
Zc3h4 |
T |
C |
7: 16,166,909 (GRCm39) |
L747P |
unknown |
Het |
Zfp268 |
G |
A |
4: 145,349,126 (GRCm39) |
D188N |
possibly damaging |
Het |
|
Other mutations in Syne3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01154:Syne3
|
APN |
12 |
104,924,328 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01986:Syne3
|
APN |
12 |
104,934,259 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02303:Syne3
|
APN |
12 |
104,929,553 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02469:Syne3
|
APN |
12 |
104,920,565 (GRCm39) |
missense |
probably benign |
0.08 |
IGL03127:Syne3
|
APN |
12 |
104,909,687 (GRCm39) |
missense |
probably benign |
0.02 |
BB008:Syne3
|
UTSW |
12 |
104,929,491 (GRCm39) |
missense |
probably damaging |
0.97 |
PIT4791001:Syne3
|
UTSW |
12 |
104,929,438 (GRCm39) |
missense |
probably benign |
|
R0436:Syne3
|
UTSW |
12 |
104,913,183 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0471:Syne3
|
UTSW |
12 |
104,909,685 (GRCm39) |
missense |
probably benign |
0.00 |
R0613:Syne3
|
UTSW |
12 |
104,924,371 (GRCm39) |
missense |
probably benign |
|
R0662:Syne3
|
UTSW |
12 |
104,927,769 (GRCm39) |
missense |
probably benign |
0.44 |
R0707:Syne3
|
UTSW |
12 |
104,935,619 (GRCm39) |
missense |
probably damaging |
0.98 |
R1321:Syne3
|
UTSW |
12 |
104,942,055 (GRCm39) |
missense |
probably benign |
0.14 |
R1494:Syne3
|
UTSW |
12 |
104,921,841 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2035:Syne3
|
UTSW |
12 |
104,924,386 (GRCm39) |
missense |
probably benign |
0.00 |
R2147:Syne3
|
UTSW |
12 |
104,919,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R2326:Syne3
|
UTSW |
12 |
104,935,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R2923:Syne3
|
UTSW |
12 |
104,934,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R3710:Syne3
|
UTSW |
12 |
104,909,697 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3946:Syne3
|
UTSW |
12 |
104,924,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R4542:Syne3
|
UTSW |
12 |
104,935,503 (GRCm39) |
missense |
probably benign |
0.00 |
R4544:Syne3
|
UTSW |
12 |
104,925,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R5110:Syne3
|
UTSW |
12 |
104,909,629 (GRCm39) |
missense |
probably benign |
0.10 |
R5256:Syne3
|
UTSW |
12 |
104,942,139 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R5490:Syne3
|
UTSW |
12 |
104,921,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R5616:Syne3
|
UTSW |
12 |
104,921,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R5730:Syne3
|
UTSW |
12 |
104,927,713 (GRCm39) |
missense |
probably benign |
0.02 |
R5941:Syne3
|
UTSW |
12 |
104,913,251 (GRCm39) |
missense |
probably benign |
|
R6208:Syne3
|
UTSW |
12 |
104,909,622 (GRCm39) |
missense |
probably benign |
0.12 |
R6456:Syne3
|
UTSW |
12 |
104,906,963 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6566:Syne3
|
UTSW |
12 |
104,912,966 (GRCm39) |
missense |
probably benign |
0.00 |
R6957:Syne3
|
UTSW |
12 |
104,920,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R7251:Syne3
|
UTSW |
12 |
104,927,830 (GRCm39) |
frame shift |
probably null |
|
R7388:Syne3
|
UTSW |
12 |
104,934,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R7591:Syne3
|
UTSW |
12 |
104,906,863 (GRCm39) |
critical splice donor site |
probably null |
|
R7614:Syne3
|
UTSW |
12 |
104,912,901 (GRCm39) |
missense |
not run |
|
R7740:Syne3
|
UTSW |
12 |
104,920,546 (GRCm39) |
missense |
probably benign |
0.01 |
R7763:Syne3
|
UTSW |
12 |
104,963,754 (GRCm39) |
start gained |
probably benign |
|
R7931:Syne3
|
UTSW |
12 |
104,929,491 (GRCm39) |
missense |
probably damaging |
0.97 |
R8973:Syne3
|
UTSW |
12 |
104,925,654 (GRCm39) |
critical splice donor site |
probably null |
|
R9031:Syne3
|
UTSW |
12 |
104,905,871 (GRCm39) |
missense |
probably benign |
0.45 |
R9263:Syne3
|
UTSW |
12 |
104,934,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R9579:Syne3
|
UTSW |
12 |
104,942,107 (GRCm39) |
missense |
probably damaging |
0.96 |
R9665:Syne3
|
UTSW |
12 |
104,924,247 (GRCm39) |
missense |
probably benign |
0.01 |
R9668:Syne3
|
UTSW |
12 |
104,898,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGATTCTCAGGAGTCTGTGC -3'
(R):5'- AAGCTGGTTCTTATTCTGAGCC -3'
Sequencing Primer
(F):5'- CTGTGTCTGGTGTGGCAACC -3'
(R):5'- TATTCTGAGCCCAGCCTCAGG -3'
|
Posted On |
2020-08-01 |