Incidental Mutation 'IGL02303:Syne3'
| ID |
287458 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02303
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
104896192-104976068 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104929553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 222
(H222Q)
|
| 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: H135Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000065771
Gene: ENSMUSG00000054150
AA Change: H135Q
| 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: H222Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093090
Gene: ENSMUSG00000054150
AA Change: H222Q
| 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: H135Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105553
Gene: ENSMUSG00000054150
AA Change: H135Q
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 110,045,376 (GRCm39) |
F319S |
probably damaging |
Het |
| Ap3b1 |
A |
G |
13: 94,664,827 (GRCm39) |
D922G |
unknown |
Het |
| Bhlhe41 |
A |
T |
6: 145,809,882 (GRCm39) |
H107Q |
probably damaging |
Het |
| Csmd2 |
C |
A |
4: 128,262,801 (GRCm39) |
H662Q |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,932,021 (GRCm39) |
V1463A |
probably benign |
Het |
| Ebf3 |
A |
T |
7: 136,911,094 (GRCm39) |
V140E |
probably benign |
Het |
| Havcr2 |
T |
A |
11: 46,370,108 (GRCm39) |
|
probably benign |
Het |
| Hexb |
G |
A |
13: 97,313,401 (GRCm39) |
A485V |
probably damaging |
Het |
| Igkv5-37 |
T |
A |
6: 69,940,473 (GRCm39) |
Q57L |
probably damaging |
Het |
| Ipo5 |
T |
A |
14: 121,154,795 (GRCm39) |
S40T |
probably benign |
Het |
| Kcnj8 |
A |
G |
6: 142,515,837 (GRCm39) |
M90T |
probably benign |
Het |
| Kif21b |
T |
A |
1: 136,087,495 (GRCm39) |
L937Q |
probably damaging |
Het |
| Kmt2c |
A |
C |
5: 25,515,155 (GRCm39) |
L2896R |
probably damaging |
Het |
| Ldlrap1 |
A |
T |
4: 134,484,706 (GRCm39) |
I96N |
probably damaging |
Het |
| Leo1 |
A |
G |
9: 75,353,281 (GRCm39) |
|
probably benign |
Het |
| Mbnl2 |
T |
C |
14: 120,642,059 (GRCm39) |
M341T |
probably benign |
Het |
| Nfatc2 |
G |
A |
2: 168,348,821 (GRCm39) |
R669* |
probably null |
Het |
| Nhlrc2 |
T |
A |
19: 56,563,280 (GRCm39) |
V293E |
probably damaging |
Het |
| Or1e17 |
T |
C |
11: 73,831,276 (GRCm39) |
F68S |
possibly damaging |
Het |
| Or2at1 |
A |
G |
7: 99,417,179 (GRCm39) |
D270G |
possibly damaging |
Het |
| Or51ag1 |
A |
T |
7: 103,155,295 (GRCm39) |
M286K |
probably benign |
Het |
| Or51ai2 |
A |
G |
7: 103,586,770 (GRCm39) |
Q61R |
possibly damaging |
Het |
| Otoa |
T |
A |
7: 120,732,147 (GRCm39) |
|
probably null |
Het |
| Pcnt |
T |
C |
10: 76,278,393 (GRCm39) |
|
probably benign |
Het |
| Recql4 |
G |
T |
15: 76,592,771 (GRCm39) |
Q307K |
possibly damaging |
Het |
| Sp140 |
T |
A |
1: 85,570,730 (GRCm39) |
Y453* |
probably null |
Het |
| Sspo |
G |
A |
6: 48,461,639 (GRCm39) |
V3600I |
possibly damaging |
Het |
| Sybu |
T |
C |
15: 44,536,619 (GRCm39) |
E441G |
probably benign |
Het |
| Tef |
T |
C |
15: 81,705,496 (GRCm39) |
V173A |
probably benign |
Het |
| Tlcd1 |
A |
G |
11: 78,071,160 (GRCm39) |
|
probably null |
Het |
| Tmod4 |
C |
A |
3: 95,032,953 (GRCm39) |
Q30K |
probably benign |
Het |
| Tpgs1 |
T |
C |
10: 79,511,322 (GRCm39) |
Y155H |
probably damaging |
Het |
| Trib3 |
G |
A |
2: 152,185,070 (GRCm39) |
P60S |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,560,550 (GRCm39) |
T20957S |
probably damaging |
Het |
| Vars1 |
T |
C |
17: 35,234,460 (GRCm39) |
|
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,852,763 (GRCm39) |
|
probably benign |
Het |
| Zc3h4 |
T |
C |
7: 16,168,002 (GRCm39) |
S704P |
unknown |
Het |
| Zfp644 |
G |
A |
5: 106,785,180 (GRCm39) |
R456W |
probably 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 |
|
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 |
|
BB018: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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation