Incidental Mutation 'R9109:Syt14'
| ID |
692118 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syt14
|
| Ensembl Gene |
ENSMUSG00000016200 |
| Gene Name |
synaptotagmin XIV |
| Synonyms |
B230320I09Rik |
| MMRRC Submission |
068918-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9109 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
192573541-192718083 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 192612944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 336
(E336*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142190
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016344]
[ENSMUST00000195354]
[ENSMUST00000195530]
[ENSMUST00000215093]
|
| AlphaFold |
Q7TN84 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000016344
AA Change: E336*
|
| SMART Domains |
Protein: ENSMUSP00000016344
Gene: ENSMUSG00000016200
AA Change: E336*
| 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 null
Transcript: ENSMUST00000195354
AA Change: E336*
|
| SMART Domains |
Protein: ENSMUSP00000142190
Gene: ENSMUSG00000016200
AA Change: E336*
| 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 null
Transcript: ENSMUST00000215093
AA Change: E619*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (61/62) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
C |
A |
8: 73,198,923 (GRCm39) |
A110D |
probably benign |
Het |
| 4930407I10Rik |
A |
G |
15: 81,947,615 (GRCm39) |
E504G |
probably benign |
Het |
| 4931406B18Rik |
C |
A |
7: 43,148,702 (GRCm39) |
A170S |
|
Het |
| Apbb2 |
T |
C |
5: 66,609,018 (GRCm39) |
K210E |
probably benign |
Het |
| Arid4a |
C |
A |
12: 71,122,129 (GRCm39) |
L515I |
probably damaging |
Het |
| Atp13a3 |
A |
G |
16: 30,134,716 (GRCm39) |
S1186P |
possibly damaging |
Het |
| Brf1 |
A |
G |
12: 112,927,011 (GRCm39) |
Y500H |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,964,114 (GRCm39) |
Y895C |
probably benign |
Het |
| Cdhr17 |
T |
A |
5: 16,997,909 (GRCm39) |
V47E |
possibly damaging |
Het |
| Cenpf |
T |
C |
1: 189,391,571 (GRCm39) |
T737A |
probably benign |
Het |
| Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
| Col18a1 |
G |
A |
10: 76,893,204 (GRCm39) |
T1057M |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,515,260 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
A |
C |
15: 47,617,187 (GRCm39) |
H1000Q |
|
Het |
| Cyp4a29 |
T |
A |
4: 115,108,395 (GRCm39) |
M373K |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,333,173 (GRCm39) |
E215G |
probably damaging |
Het |
| Dusp19 |
T |
C |
2: 80,447,729 (GRCm39) |
M1T |
probably null |
Het |
| Etv4 |
A |
G |
11: 101,664,492 (GRCm39) |
Y253H |
probably benign |
Het |
| Exosc6 |
G |
A |
8: 111,783,513 (GRCm39) |
A171T |
probably damaging |
Het |
| Fam219a |
G |
A |
4: 41,521,870 (GRCm39) |
T70M |
probably damaging |
Het |
| Fau |
G |
A |
19: 6,108,297 (GRCm39) |
R6H |
probably benign |
Het |
| Flrt3 |
T |
C |
2: 140,501,879 (GRCm39) |
D583G |
probably damaging |
Het |
| Gm14443 |
A |
T |
2: 175,011,869 (GRCm39) |
C192* |
probably null |
Het |
| Gm4353 |
T |
A |
7: 115,682,843 (GRCm39) |
N246I |
probably benign |
Het |
| Igfn1 |
A |
G |
1: 135,926,327 (GRCm39) |
L41P |
probably benign |
Het |
| Jakmip3 |
A |
T |
7: 138,622,560 (GRCm39) |
I307F |
probably damaging |
Het |
| Kcnt2 |
T |
A |
1: 140,353,035 (GRCm39) |
V248D |
probably damaging |
Het |
| Kctd14 |
A |
G |
7: 97,107,243 (GRCm39) |
K166R |
probably benign |
Het |
| Kdm5b |
T |
C |
1: 134,528,493 (GRCm39) |
|
probably null |
Het |
| Kif5c |
A |
G |
2: 49,620,151 (GRCm39) |
D461G |
probably damaging |
Het |
| Lpin2 |
T |
C |
17: 71,538,516 (GRCm39) |
|
probably null |
Het |
| Mettl22 |
G |
A |
16: 8,305,231 (GRCm39) |
D295N |
probably damaging |
Het |
| Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
| Or10a5 |
A |
T |
7: 106,635,640 (GRCm39) |
I93F |
probably damaging |
Het |
| Or5b95 |
T |
A |
19: 12,658,190 (GRCm39) |
C239* |
probably null |
Het |
| Or5k8 |
A |
T |
16: 58,644,677 (GRCm39) |
Y132N |
probably damaging |
Het |
| Pecam1 |
G |
T |
11: 106,586,587 (GRCm39) |
N309K |
probably damaging |
Het |
| Pigc |
C |
T |
1: 161,798,032 (GRCm39) |
R5C |
probably benign |
Het |
| Pih1d1 |
T |
C |
7: 44,809,193 (GRCm39) |
V259A |
possibly damaging |
Het |
| Ptpre |
A |
G |
7: 135,271,508 (GRCm39) |
I374M |
probably benign |
Het |
| Rnps1 |
A |
G |
17: 24,637,573 (GRCm39) |
S72G |
unknown |
Het |
| S100pbp |
A |
G |
4: 129,044,847 (GRCm39) |
Y363H |
probably damaging |
Het |
| Sema5a |
A |
G |
15: 32,619,040 (GRCm39) |
T523A |
probably benign |
Het |
| Slc38a8 |
A |
G |
8: 120,212,851 (GRCm39) |
F270S |
possibly damaging |
Het |
| Slc4a1ap |
T |
C |
5: 31,693,538 (GRCm39) |
S491P |
probably damaging |
Het |
| Slc66a2 |
T |
C |
18: 80,300,300 (GRCm39) |
L57P |
probably damaging |
Het |
| Slc7a6 |
T |
C |
8: 106,922,534 (GRCm39) |
V440A |
probably damaging |
Het |
| Sobp |
A |
T |
10: 42,898,902 (GRCm39) |
C228S |
probably damaging |
Het |
| Sox8 |
T |
C |
17: 25,787,813 (GRCm39) |
D212G |
possibly damaging |
Het |
| Specc1 |
A |
G |
11: 62,102,464 (GRCm39) |
|
probably null |
Het |
| Svop |
G |
A |
5: 114,168,231 (GRCm39) |
T456M |
probably benign |
Het |
| Synrg |
A |
G |
11: 83,900,278 (GRCm39) |
D750G |
probably damaging |
Het |
| Tcp10c |
A |
T |
17: 13,576,650 (GRCm39) |
Q76H |
probably damaging |
Het |
| Tcp11l1 |
C |
T |
2: 104,528,897 (GRCm39) |
V134I |
possibly damaging |
Het |
| Tex51 |
T |
C |
18: 32,594,029 (GRCm39) |
R110G |
possibly damaging |
Het |
| Tle3 |
T |
A |
9: 61,319,562 (GRCm39) |
H443Q |
possibly damaging |
Het |
| Unc13a |
C |
T |
8: 72,108,335 (GRCm39) |
R506Q |
possibly damaging |
Het |
| Vmn2r27 |
T |
C |
6: 124,174,224 (GRCm39) |
Y542C |
possibly damaging |
Het |
| Vmn2r5 |
T |
G |
3: 64,411,411 (GRCm39) |
N386H |
possibly damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,327,905 (GRCm39) |
I500V |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,760,704 (GRCm39) |
|
probably null |
Het |
| Zfp709 |
A |
T |
8: 72,644,648 (GRCm39) |
E692D |
possibly damaging |
Het |
| Zglp1 |
A |
T |
9: 20,977,482 (GRCm39) |
L111Q |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTCCTCCTGTAGCATGTG -3'
(R):5'- TGGTAACGGTGACAGCTGTC -3'
Sequencing Primer
(F):5'- ACTGTATCCAGGTCATTCAGGAG -3'
(R):5'- GACAGCTGTCACAGACATTCC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation