Incidental Mutation 'IGL02716:Syt14'
ID |
304776 |
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 # |
IGL02716
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
192573541-192718083 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 192662843 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 368
(P368S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151129
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016344]
[ENSMUST00000195354]
[ENSMUST00000195530]
[ENSMUST00000215093]
|
AlphaFold |
Q7TN84 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000016344
AA Change: P85S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000016344 Gene: ENSMUSG00000016200 AA Change: P85S
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: P85S
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000142190 Gene: ENSMUSG00000016200 AA Change: P85S
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
|
SMART Domains |
Protein: ENSMUSP00000141563 Gene: ENSMUSG00000016200
Domain | Start | End | E-Value | Type |
transmembrane domain
|
25 |
47 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215093
AA Change: P368S
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl6 |
T |
C |
11: 54,218,102 (GRCm39) |
S212P |
probably benign |
Het |
Ago2 |
C |
T |
15: 72,983,576 (GRCm39) |
R711Q |
possibly damaging |
Het |
Akp3 |
A |
C |
1: 87,053,201 (GRCm39) |
D91A |
probably damaging |
Het |
Arhgap12 |
T |
A |
18: 6,111,857 (GRCm39) |
Q169L |
possibly damaging |
Het |
Aspm |
A |
G |
1: 139,407,425 (GRCm39) |
Y2104C |
probably damaging |
Het |
Baz2b |
G |
A |
2: 59,792,868 (GRCm39) |
S420L |
possibly damaging |
Het |
Cenpo |
T |
C |
12: 4,265,390 (GRCm39) |
N210S |
possibly damaging |
Het |
Chadl |
T |
C |
15: 81,580,116 (GRCm39) |
N40D |
probably damaging |
Het |
Crebbp |
T |
C |
16: 3,932,742 (GRCm39) |
E586G |
probably benign |
Het |
Cts7 |
T |
A |
13: 61,504,422 (GRCm39) |
Q47L |
probably benign |
Het |
Cyp2c40 |
C |
A |
19: 39,795,980 (GRCm39) |
D133Y |
possibly damaging |
Het |
Dnah3 |
A |
T |
7: 119,536,246 (GRCm39) |
M3679K |
probably damaging |
Het |
Dym |
T |
C |
18: 75,419,754 (GRCm39) |
Y642H |
probably damaging |
Het |
Efr3b |
T |
C |
12: 4,034,627 (GRCm39) |
D65G |
probably damaging |
Het |
Elmo1 |
T |
A |
13: 20,633,672 (GRCm39) |
F445I |
probably damaging |
Het |
Epdr1 |
C |
T |
13: 19,778,740 (GRCm39) |
V119M |
probably benign |
Het |
Epha4 |
G |
T |
1: 77,357,602 (GRCm39) |
R799S |
probably damaging |
Het |
Esyt3 |
A |
T |
9: 99,199,277 (GRCm39) |
V778E |
probably damaging |
Het |
F10 |
A |
T |
8: 13,098,177 (GRCm39) |
K127* |
probably null |
Het |
Fcgbp |
G |
A |
7: 27,800,859 (GRCm39) |
E1302K |
probably damaging |
Het |
Fer1l4 |
A |
G |
2: 155,871,635 (GRCm39) |
F1382L |
probably damaging |
Het |
Fhad1 |
T |
C |
4: 141,645,642 (GRCm39) |
I318V |
possibly damaging |
Het |
Fscn2 |
A |
T |
11: 120,257,550 (GRCm39) |
T304S |
probably benign |
Het |
Gab1 |
A |
T |
8: 81,496,323 (GRCm39) |
L659Q |
probably damaging |
Het |
Gm4845 |
A |
C |
1: 141,184,576 (GRCm39) |
|
noncoding transcript |
Het |
Gm572 |
A |
G |
4: 148,739,327 (GRCm39) |
M52V |
probably benign |
Het |
Hmgcr |
T |
C |
13: 96,796,520 (GRCm39) |
|
probably null |
Het |
Kcnk5 |
T |
C |
14: 20,231,496 (GRCm39) |
T9A |
probably damaging |
Het |
Krt87 |
A |
C |
15: 101,332,485 (GRCm39) |
F243V |
possibly damaging |
Het |
Lyset |
A |
G |
12: 102,711,088 (GRCm39) |
T104A |
probably benign |
Het |
Mast1 |
G |
T |
8: 85,662,352 (GRCm39) |
P52Q |
probably damaging |
Het |
Mcf2l |
A |
T |
8: 13,047,277 (GRCm39) |
Q211L |
probably benign |
Het |
Mtrex |
T |
G |
13: 113,019,680 (GRCm39) |
D810A |
probably benign |
Het |
Mtus2 |
C |
A |
5: 148,173,120 (GRCm39) |
P968T |
probably benign |
Het |
Mylk2 |
T |
C |
2: 152,764,073 (GRCm39) |
*614R |
probably null |
Het |
Myo15b |
A |
T |
11: 115,774,535 (GRCm39) |
E2049V |
probably benign |
Het |
Myo6 |
A |
T |
9: 80,176,976 (GRCm39) |
H581L |
probably damaging |
Het |
Numb |
A |
T |
12: 83,847,982 (GRCm39) |
S241T |
possibly damaging |
Het |
Or1j10 |
A |
G |
2: 36,267,355 (GRCm39) |
D189G |
possibly damaging |
Het |
Or4k77 |
A |
T |
2: 111,199,126 (GRCm39) |
I50F |
probably benign |
Het |
Or4x11 |
G |
T |
2: 89,868,138 (GRCm39) |
V292L |
probably benign |
Het |
Phldb2 |
A |
G |
16: 45,621,953 (GRCm39) |
S676P |
probably damaging |
Het |
Rttn |
G |
A |
18: 89,066,541 (GRCm39) |
E1196K |
possibly damaging |
Het |
Slc13a3 |
G |
A |
2: 165,248,635 (GRCm39) |
P548S |
unknown |
Het |
Slc2a7 |
A |
G |
4: 150,244,467 (GRCm39) |
|
probably benign |
Het |
Slc37a1 |
T |
C |
17: 31,547,135 (GRCm39) |
S261P |
possibly damaging |
Het |
Spryd3 |
T |
A |
15: 102,041,896 (GRCm39) |
Y42F |
possibly damaging |
Het |
Srrm3 |
A |
G |
5: 135,883,287 (GRCm39) |
|
probably null |
Het |
Stambp |
G |
A |
6: 83,533,372 (GRCm39) |
T297I |
probably damaging |
Het |
Sypl1 |
T |
A |
12: 33,017,668 (GRCm39) |
Y129N |
probably damaging |
Het |
Tas2r122 |
T |
C |
6: 132,688,227 (GRCm39) |
D222G |
probably damaging |
Het |
Tead2 |
C |
A |
7: 44,881,720 (GRCm39) |
Y79* |
probably null |
Het |
Uso1 |
T |
C |
5: 92,321,794 (GRCm39) |
V229A |
probably damaging |
Het |
Vmn1r238 |
A |
G |
18: 3,123,124 (GRCm39) |
S97P |
probably damaging |
Het |
Vmn2r82 |
T |
A |
10: 79,213,678 (GRCm39) |
V88D |
probably benign |
Het |
Vps29 |
A |
G |
5: 122,500,129 (GRCm39) |
T85A |
probably benign |
Het |
Wdr90 |
T |
A |
17: 26,076,194 (GRCm39) |
S500C |
probably damaging |
Het |
Zfp958 |
G |
A |
8: 4,675,967 (GRCm39) |
|
probably null |
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 |
|
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 |
2015-04-16 |