Incidental Mutation 'IGL03051:Syt14'
| ID |
409055 |
| 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 # |
IGL03051
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
192573541-192718083 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 192615528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 486
(N486S)
|
| 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: N203S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000016344
Gene: ENSMUSG00000016200
AA Change: N203S
| 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: N203S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000142190
Gene: ENSMUSG00000016200
AA Change: N203S
| 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 |
probably benign
Transcript: ENSMUST00000215093
AA Change: N486S
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
G |
T |
6: 86,964,283 (GRCm39) |
|
probably benign |
Het |
| Abhd14a |
A |
T |
9: 106,321,128 (GRCm39) |
F76I |
possibly damaging |
Het |
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,260,233 (GRCm39) |
C149* |
probably null |
Het |
| Appbp2 |
A |
T |
11: 85,082,565 (GRCm39) |
D555E |
possibly damaging |
Het |
| Arhgap25 |
T |
C |
6: 87,472,896 (GRCm39) |
Q87R |
probably null |
Het |
| Baz1b |
T |
A |
5: 135,246,079 (GRCm39) |
N509K |
probably benign |
Het |
| Ccn4 |
T |
A |
15: 66,778,399 (GRCm39) |
C73* |
probably null |
Het |
| Ces5a |
C |
A |
8: 94,255,226 (GRCm39) |
G156C |
probably damaging |
Het |
| Chtf18 |
G |
A |
17: 25,939,938 (GRCm39) |
R723W |
probably damaging |
Het |
| Clec4e |
A |
G |
6: 123,266,692 (GRCm39) |
S6P |
probably benign |
Het |
| Dennd4a |
A |
G |
9: 64,769,696 (GRCm39) |
I468V |
probably damaging |
Het |
| Epb41l4a |
A |
T |
18: 34,007,825 (GRCm39) |
Y233N |
probably damaging |
Het |
| Fam210b |
C |
T |
2: 172,194,612 (GRCm39) |
H155Y |
probably benign |
Het |
| Frmd4b |
A |
T |
6: 97,272,943 (GRCm39) |
C770* |
probably null |
Het |
| Gpa33 |
A |
G |
1: 165,992,790 (GRCm39) |
H301R |
probably benign |
Het |
| Gpr39 |
T |
A |
1: 125,605,485 (GRCm39) |
C138S |
probably damaging |
Het |
| Gtf2i |
T |
A |
5: 134,271,768 (GRCm39) |
K858* |
probably null |
Het |
| Ighv7-1 |
A |
T |
12: 113,860,576 (GRCm39) |
|
probably benign |
Het |
| Iglv1 |
T |
C |
16: 18,903,973 (GRCm39) |
T49A |
possibly damaging |
Het |
| Kif17 |
A |
C |
4: 138,016,565 (GRCm39) |
D416A |
probably damaging |
Het |
| Mib2 |
T |
C |
4: 155,741,747 (GRCm39) |
T431A |
probably damaging |
Het |
| Mpz |
G |
A |
1: 170,986,380 (GRCm39) |
R98H |
probably damaging |
Het |
| Naa16 |
T |
C |
14: 79,606,522 (GRCm39) |
E337G |
probably benign |
Het |
| Odam |
G |
A |
5: 88,040,335 (GRCm39) |
|
probably benign |
Het |
| Or1e1f |
T |
A |
11: 73,855,860 (GRCm39) |
L142H |
probably benign |
Het |
| Parp2 |
T |
C |
14: 51,056,805 (GRCm39) |
|
probably benign |
Het |
| Pcdh7 |
T |
G |
5: 58,286,415 (GRCm39) |
S1164A |
probably damaging |
Het |
| Pkp4 |
G |
T |
2: 59,142,106 (GRCm39) |
A470S |
probably benign |
Het |
| Plin4 |
A |
T |
17: 56,412,417 (GRCm39) |
M538K |
possibly damaging |
Het |
| Prex2 |
T |
C |
1: 11,212,889 (GRCm39) |
V624A |
probably damaging |
Het |
| Rps6ka5 |
A |
C |
12: 100,582,250 (GRCm39) |
|
probably null |
Het |
| Simc1 |
T |
C |
13: 54,674,036 (GRCm39) |
S795P |
probably benign |
Het |
| Slc35b4 |
A |
T |
6: 34,137,406 (GRCm39) |
|
probably null |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Trim59 |
T |
C |
3: 68,944,206 (GRCm39) |
N378S |
probably benign |
Het |
| Wdr17 |
T |
A |
8: 55,104,349 (GRCm39) |
D908V |
probably damaging |
Het |
| Wdr74 |
A |
G |
19: 8,716,875 (GRCm39) |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation