Incidental Mutation 'IGL01535:Syt14'
ID |
89932 |
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 # |
IGL01535
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
192573541-192718083 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 192669073 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 60
(D60A)
|
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: D60A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000016344 Gene: ENSMUSG00000016200 AA Change: D60A
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 |
possibly damaging
Transcript: ENSMUST00000195354
AA Change: D60A
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000142190 Gene: ENSMUSG00000016200 AA Change: D60A
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 damaging
Transcript: ENSMUST00000195530
AA Change: D60A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000141563 Gene: ENSMUSG00000016200 AA Change: D60A
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
T |
A |
18: 59,101,891 (GRCm39) |
S654T |
probably benign |
Het |
Brd10 |
T |
C |
19: 29,731,212 (GRCm39) |
H600R |
possibly damaging |
Het |
Cacnb3 |
A |
T |
15: 98,537,469 (GRCm39) |
Q49L |
probably benign |
Het |
Dapk1 |
A |
G |
13: 60,878,845 (GRCm39) |
|
probably benign |
Het |
Dop1b |
T |
A |
16: 93,566,846 (GRCm39) |
L1091* |
probably null |
Het |
Epb42 |
A |
G |
2: 120,858,169 (GRCm39) |
V263A |
probably damaging |
Het |
Fig4 |
T |
G |
10: 41,132,490 (GRCm39) |
S439R |
probably benign |
Het |
Gatc |
A |
T |
5: 115,479,048 (GRCm39) |
V54E |
possibly damaging |
Het |
Hook2 |
T |
C |
8: 85,729,618 (GRCm39) |
L686P |
probably benign |
Het |
Med12l |
A |
T |
3: 59,169,680 (GRCm39) |
T1615S |
probably damaging |
Het |
Msr1 |
C |
T |
8: 40,064,714 (GRCm39) |
G320D |
probably benign |
Het |
Nbeal1 |
T |
A |
1: 60,256,414 (GRCm39) |
F220I |
probably damaging |
Het |
Or14j2 |
T |
A |
17: 37,885,679 (GRCm39) |
I212F |
possibly damaging |
Het |
Or2l5 |
G |
A |
16: 19,334,228 (GRCm39) |
H53Y |
probably benign |
Het |
Pcdh10 |
A |
T |
3: 45,334,078 (GRCm39) |
I131F |
probably damaging |
Het |
Phlpp2 |
A |
G |
8: 110,660,697 (GRCm39) |
E784G |
possibly damaging |
Het |
Prr36 |
A |
T |
8: 4,264,043 (GRCm39) |
|
probably benign |
Het |
Ptprq |
G |
A |
10: 107,535,457 (GRCm39) |
S436L |
probably benign |
Het |
Rock1 |
T |
A |
18: 10,132,119 (GRCm39) |
|
probably benign |
Het |
Sash1 |
T |
G |
10: 8,617,341 (GRCm39) |
T522P |
probably damaging |
Het |
Serpinb2 |
T |
C |
1: 107,447,503 (GRCm39) |
|
probably null |
Het |
Supt16 |
T |
C |
14: 52,414,647 (GRCm39) |
K422E |
probably damaging |
Het |
Tbc1d2b |
A |
C |
9: 90,097,526 (GRCm39) |
|
probably benign |
Het |
Thsd7b |
T |
C |
1: 129,605,954 (GRCm39) |
I565T |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,564,536 (GRCm39) |
Y28534H |
probably damaging |
Het |
Vmn1r177 |
T |
A |
7: 23,565,765 (GRCm39) |
H37L |
probably damaging |
Het |
Vps13b |
A |
T |
15: 35,455,103 (GRCm39) |
N671Y |
possibly damaging |
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 |
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 |
IGL03268:Syt14
|
APN |
1 |
192,669,142 (GRCm39) |
missense |
probably benign |
0.25 |
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 |
2013-12-03 |