Incidental Mutation 'IGL03268:Syt14'
| ID |
415171 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Syt14
|
| Ensembl Gene |
ENSMUSG00000016200 |
| Gene Name |
synaptotagmin XIV |
| Synonyms |
B230320I09Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03268
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
192573541-192718083 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 192669142 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 37
(V37A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016344]
[ENSMUST00000195354]
[ENSMUST00000195530]
[ENSMUST00000215093]
|
| AlphaFold |
Q7TN84 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016344
AA Change: V37A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000016344
Gene: ENSMUSG00000016200
AA Change: V37A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
25 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
94 |
N/A |
INTRINSIC |
|
C2
|
276 |
378 |
1.41e0 |
SMART |
|
C2
|
431 |
547 |
1.38e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191907
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195354
AA Change: V37A
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000142190
Gene: ENSMUSG00000016200
AA Change: V37A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
25 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
94 |
N/A |
INTRINSIC |
|
C2
|
276 |
378 |
1.41e0 |
SMART |
|
C2
|
431 |
547 |
1.38e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195530
AA Change: V37A
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000141563
Gene: ENSMUSG00000016200
AA Change: V37A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
25 |
47 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215093
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the synaptotagmin family. The encoded protein may be involved in membrane trafficking. Disruption of a similar gene in human has been associated with autosomal recessive spinocerebellar ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500002C15Rik |
G |
T |
4: 155,818,648 (GRCm39) |
|
probably benign |
Het |
| Acvrl1 |
A |
T |
15: 101,033,803 (GRCm39) |
I162F |
possibly damaging |
Het |
| Adprhl1 |
A |
G |
8: 13,296,170 (GRCm39) |
|
probably benign |
Het |
| Anapc7 |
G |
A |
5: 122,567,669 (GRCm39) |
|
probably null |
Het |
| Ankrd13a |
T |
C |
5: 114,930,296 (GRCm39) |
L227P |
probably damaging |
Het |
| Anxa5 |
T |
C |
3: 36,504,828 (GRCm39) |
I245V |
probably benign |
Het |
| Arf1 |
A |
T |
11: 59,103,663 (GRCm39) |
V123E |
possibly damaging |
Het |
| Catsperg1 |
G |
A |
7: 28,899,668 (GRCm39) |
R338C |
probably damaging |
Het |
| Cc2d1a |
A |
C |
8: 84,860,154 (GRCm39) |
L855R |
probably damaging |
Het |
| Cdh18 |
G |
A |
15: 23,366,953 (GRCm39) |
A220T |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,829,295 (GRCm39) |
H203R |
probably benign |
Het |
| Cep78 |
G |
T |
19: 15,951,806 (GRCm39) |
S333* |
probably null |
Het |
| Chrna2 |
T |
A |
14: 66,388,395 (GRCm39) |
|
probably benign |
Het |
| Dact1 |
T |
C |
12: 71,364,257 (GRCm39) |
V346A |
probably damaging |
Het |
| Dcn |
A |
G |
10: 97,319,240 (GRCm39) |
I6V |
probably benign |
Het |
| Dlg3 |
A |
G |
X: 99,853,493 (GRCm39) |
Y600C |
probably damaging |
Het |
| Dmd |
A |
G |
X: 82,849,814 (GRCm39) |
E1084G |
probably damaging |
Het |
| Epb41 |
A |
C |
4: 131,655,806 (GRCm39) |
D825E |
probably damaging |
Het |
| Galc |
T |
A |
12: 98,188,852 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,648,261 (GRCm39) |
D675V |
probably damaging |
Het |
| Igkv2-137 |
A |
G |
6: 67,533,092 (GRCm39) |
D85G |
probably benign |
Het |
| Kxd1 |
A |
G |
8: 70,961,136 (GRCm39) |
I78T |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 27,298,649 (GRCm39) |
I149N |
probably damaging |
Het |
| Mbnl2 |
G |
T |
14: 120,616,569 (GRCm39) |
C61F |
probably damaging |
Het |
| Mcts1 |
T |
C |
X: 37,690,859 (GRCm39) |
I22T |
possibly damaging |
Het |
| Or4k15b |
T |
C |
14: 50,272,024 (GRCm39) |
T279A |
probably damaging |
Het |
| Or52e3 |
T |
G |
7: 102,869,848 (GRCm39) |
F308V |
probably benign |
Het |
| Pde12 |
T |
A |
14: 26,389,614 (GRCm39) |
E365V |
probably benign |
Het |
| Prl8a2 |
A |
G |
13: 27,537,938 (GRCm39) |
K204R |
probably benign |
Het |
| Rnf25 |
A |
T |
1: 74,638,217 (GRCm39) |
|
probably benign |
Het |
| Rragb |
A |
G |
X: 151,923,493 (GRCm39) |
D5G |
unknown |
Het |
| Rsrc2 |
T |
A |
5: 123,878,790 (GRCm39) |
K56* |
probably null |
Het |
| Scn5a |
T |
C |
9: 119,350,297 (GRCm39) |
Q859R |
probably damaging |
Het |
| Septin4 |
G |
A |
11: 87,480,529 (GRCm39) |
V388M |
probably damaging |
Het |
| Slc29a2 |
C |
T |
19: 5,074,531 (GRCm39) |
|
probably benign |
Het |
| Slc30a5 |
G |
A |
13: 100,943,211 (GRCm39) |
T549I |
probably damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,365,554 (GRCm39) |
T462A |
probably benign |
Het |
| Spsb2 |
A |
G |
6: 124,786,450 (GRCm39) |
E61G |
probably damaging |
Het |
| Srr |
A |
G |
11: 74,803,943 (GRCm39) |
Y5H |
probably benign |
Het |
| Suclg2 |
T |
C |
6: 95,546,573 (GRCm39) |
D301G |
probably damaging |
Het |
| Syt9 |
A |
G |
7: 107,035,612 (GRCm39) |
N210D |
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,688,558 (GRCm39) |
D2343G |
probably damaging |
Het |
| Tma7 |
A |
G |
9: 108,907,450 (GRCm39) |
|
probably benign |
Het |
| Tor3a |
T |
C |
1: 156,497,020 (GRCm39) |
D175G |
probably damaging |
Het |
| Tpo |
G |
T |
12: 30,144,964 (GRCm39) |
A595D |
possibly damaging |
Het |
| Tpst2 |
T |
C |
5: 112,456,091 (GRCm39) |
V210A |
probably damaging |
Het |
| Uchl1 |
A |
T |
5: 66,839,824 (GRCm39) |
E122V |
probably benign |
Het |
| Vmn1r210 |
A |
T |
13: 23,011,405 (GRCm39) |
F294I |
probably benign |
Het |
|
| Other mutations in Syt14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00584:Syt14
|
APN |
1 |
192,612,792 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01535:Syt14
|
APN |
1 |
192,669,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01935:Syt14
|
APN |
1 |
192,615,679 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02531:Syt14
|
APN |
1 |
192,584,242 (GRCm39) |
makesense |
probably null |
|
|
IGL02716:Syt14
|
APN |
1 |
192,662,843 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03051:Syt14
|
APN |
1 |
192,615,528 (GRCm39) |
missense |
probably benign |
0.19 |
|
crumpled
|
UTSW |
1 |
192,584,177 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0542:Syt14
|
UTSW |
1 |
192,613,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0598:Syt14
|
UTSW |
1 |
192,579,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1533:Syt14
|
UTSW |
1 |
192,613,084 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1675:Syt14
|
UTSW |
1 |
192,579,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1907:Syt14
|
UTSW |
1 |
192,584,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3032:Syt14
|
UTSW |
1 |
192,669,059 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3828:Syt14
|
UTSW |
1 |
192,584,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3965:Syt14
|
UTSW |
1 |
192,584,175 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4646:Syt14
|
UTSW |
1 |
192,615,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4730:Syt14
|
UTSW |
1 |
192,613,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4909:Syt14
|
UTSW |
1 |
192,581,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4970:Syt14
|
UTSW |
1 |
192,613,285 (GRCm39) |
intron |
probably benign |
|
|
R5039:Syt14
|
UTSW |
1 |
192,709,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5363:Syt14
|
UTSW |
1 |
192,612,971 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5593:Syt14
|
UTSW |
1 |
192,613,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5980:Syt14
|
UTSW |
1 |
192,662,716 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6014:Syt14
|
UTSW |
1 |
192,613,003 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6221:Syt14
|
UTSW |
1 |
192,612,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6547:Syt14
|
UTSW |
1 |
192,584,177 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6804:Syt14
|
UTSW |
1 |
192,584,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7038:Syt14
|
UTSW |
1 |
192,665,966 (GRCm39) |
intron |
probably benign |
|
|
R7179:Syt14
|
UTSW |
1 |
192,615,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7196:Syt14
|
UTSW |
1 |
192,717,936 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7311:Syt14
|
UTSW |
1 |
192,662,858 (GRCm39) |
missense |
probably benign |
|
|
R7577:Syt14
|
UTSW |
1 |
192,665,885 (GRCm39) |
missense |
unknown |
|
|
R7769:Syt14
|
UTSW |
1 |
192,666,632 (GRCm39) |
missense |
unknown |
|
|
R7779:Syt14
|
UTSW |
1 |
192,666,751 (GRCm39) |
missense |
unknown |
|
|
R8213:Syt14
|
UTSW |
1 |
192,669,137 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8888:Syt14
|
UTSW |
1 |
192,579,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8939:Syt14
|
UTSW |
1 |
192,612,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8960:Syt14
|
UTSW |
1 |
192,666,515 (GRCm39) |
intron |
probably benign |
|
|
R9109:Syt14
|
UTSW |
1 |
192,612,944 (GRCm39) |
nonsense |
probably null |
|
|
R9117:Syt14
|
UTSW |
1 |
192,666,126 (GRCm39) |
missense |
unknown |
|
|
R9127:Syt14
|
UTSW |
1 |
192,584,131 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9213:Syt14
|
UTSW |
1 |
192,612,814 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9298:Syt14
|
UTSW |
1 |
192,612,944 (GRCm39) |
nonsense |
probably null |
|
|
R9741:Syt14
|
UTSW |
1 |
192,666,449 (GRCm39) |
missense |
unknown |
|
|
Z1176:Syt14
|
UTSW |
1 |
192,615,506 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2016-08-02 |
Incidental Mutation