Incidental Mutation 'R9117:Syt14'
| ID |
692582 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syt14
|
| Ensembl Gene |
ENSMUSG00000016200 |
| Gene Name |
synaptotagmin XIV |
| Synonyms |
B230320I09Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9117 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
192573541-192718083 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 192666126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 259
(H259Q)
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000016344
Gene: ENSMUSG00000016200
| 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: ENSMUST00000195354
|
| SMART Domains |
Protein: ENSMUSP00000142190
Gene: ENSMUSG00000016200
| 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 |
unknown
Transcript: ENSMUST00000215093
AA Change: H259Q
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (56/57) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061I04Rik |
C |
G |
17: 36,203,963 (GRCm39) |
S185T |
probably benign |
Het |
| Agfg1 |
T |
G |
1: 82,872,216 (GRCm39) |
F516L |
possibly damaging |
Het |
| Akap5 |
T |
A |
12: 76,374,592 (GRCm39) |
M8K |
possibly damaging |
Het |
| Aldh1l2 |
C |
T |
10: 83,342,545 (GRCm39) |
V535I |
probably benign |
Het |
| Atg3 |
T |
C |
16: 45,006,564 (GRCm39) |
V277A |
probably damaging |
Het |
| Bloc1s6 |
C |
T |
2: 122,588,534 (GRCm39) |
P168L |
probably damaging |
Het |
| Ccr7 |
A |
G |
11: 99,036,086 (GRCm39) |
Y279H |
probably damaging |
Het |
| Cfap210 |
G |
T |
2: 69,612,103 (GRCm39) |
S175* |
probably null |
Het |
| Clint1 |
A |
G |
11: 45,781,562 (GRCm39) |
T211A |
probably damaging |
Het |
| Dchs2 |
T |
G |
3: 83,176,662 (GRCm39) |
D873E |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 109,926,164 (GRCm39) |
L149P |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,033,581 (GRCm39) |
|
probably benign |
Het |
| Dtx1 |
A |
G |
5: 120,848,356 (GRCm39) |
V8A |
probably benign |
Het |
| Enpp3 |
T |
A |
10: 24,702,078 (GRCm39) |
K91N |
possibly damaging |
Het |
| Fcho1 |
C |
T |
8: 72,164,712 (GRCm39) |
G523E |
possibly damaging |
Het |
| Ffar2 |
T |
C |
7: 30,518,616 (GRCm39) |
E308G |
probably damaging |
Het |
| Foxb2 |
T |
C |
19: 16,850,758 (GRCm39) |
K83E |
unknown |
Het |
| Git2 |
A |
G |
5: 114,887,621 (GRCm39) |
|
probably null |
Het |
| Gm10024 |
T |
C |
10: 77,547,339 (GRCm39) |
S17P |
unknown |
Het |
| Greb1l |
A |
T |
18: 10,542,422 (GRCm39) |
Y1339F |
probably benign |
Het |
| Grhl2 |
T |
A |
15: 37,270,912 (GRCm39) |
D33E |
probably damaging |
Het |
| Herc4 |
C |
A |
10: 63,126,300 (GRCm39) |
L551I |
probably benign |
Het |
| Igfn1 |
T |
A |
1: 135,902,528 (GRCm39) |
T390S |
probably benign |
Het |
| Ighv3-1 |
T |
A |
12: 113,928,089 (GRCm39) |
H90L |
probably benign |
Het |
| Jag2 |
G |
T |
12: 112,877,279 (GRCm39) |
Y697* |
probably null |
Het |
| Kif1c |
T |
C |
11: 70,595,798 (GRCm39) |
V168A |
probably damaging |
Het |
| Lipn |
T |
C |
19: 34,046,041 (GRCm39) |
W5R |
probably damaging |
Het |
| Mavs |
G |
A |
2: 131,087,245 (GRCm39) |
A248T |
probably benign |
Het |
| Megf10 |
G |
A |
18: 57,392,773 (GRCm39) |
G390D |
probably damaging |
Het |
| Mib1 |
A |
G |
18: 10,793,023 (GRCm39) |
H653R |
probably benign |
Het |
| Mrps9 |
T |
G |
1: 42,942,537 (GRCm39) |
S332A |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,423,070 (GRCm39) |
C4498R |
possibly damaging |
Het |
| Myo15b |
T |
A |
11: 115,778,743 (GRCm39) |
I1157N |
possibly damaging |
Het |
| Myo9b |
C |
T |
8: 71,800,451 (GRCm39) |
T1002M |
probably benign |
Het |
| Nav3 |
T |
A |
10: 109,520,100 (GRCm39) |
M2328L |
probably benign |
Het |
| Or5h18 |
T |
C |
16: 58,847,653 (GRCm39) |
I206V |
probably benign |
Het |
| Or8b52 |
T |
A |
9: 38,577,106 (GRCm39) |
E11D |
probably benign |
Het |
| Pawr |
T |
C |
10: 108,169,140 (GRCm39) |
S155P |
probably damaging |
Het |
| Pcdhb15 |
G |
T |
18: 37,608,090 (GRCm39) |
V441F |
probably damaging |
Het |
| Plekhg3 |
A |
G |
12: 76,624,905 (GRCm39) |
D1250G |
probably benign |
Het |
| Ptprs |
T |
A |
17: 56,742,853 (GRCm39) |
M430L |
possibly damaging |
Het |
| Raly |
T |
A |
2: 154,703,785 (GRCm39) |
S119T |
probably damaging |
Het |
| Serpinb6a |
A |
T |
13: 34,109,412 (GRCm39) |
S128T |
probably benign |
Het |
| Sirt3 |
C |
T |
7: 140,449,362 (GRCm39) |
|
probably benign |
Het |
| Slc22a7 |
A |
G |
17: 46,748,029 (GRCm39) |
F210L |
probably damaging |
Het |
| Speg |
G |
T |
1: 75,364,444 (GRCm39) |
S275I |
probably damaging |
Het |
| Stk32c |
C |
T |
7: 138,768,141 (GRCm39) |
D47N |
unknown |
Het |
| Stra6 |
T |
G |
9: 58,059,822 (GRCm39) |
S594R |
probably benign |
Het |
| Sun2 |
T |
C |
15: 79,614,517 (GRCm39) |
H295R |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,053,667 (GRCm39) |
Q7470R |
probably damaging |
Het |
| Toporsl |
A |
T |
4: 52,609,943 (GRCm39) |
|
probably benign |
Het |
| Trim50 |
A |
G |
5: 135,382,537 (GRCm39) |
S130G |
possibly damaging |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Wdr18 |
T |
C |
10: 79,801,154 (GRCm39) |
V189A |
probably benign |
Het |
| Zfat |
C |
A |
15: 68,058,918 (GRCm39) |
A206S |
probably 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 |
|
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 |
|
|
R9109:Syt14
|
UTSW |
1 |
192,612,944 (GRCm39) |
nonsense |
probably null |
|
|
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'- CCTCTCTTAGAAGAATTAGCCTCG -3'
(R):5'- GGACGGAACATTCTCTCTGTG -3'
Sequencing Primer
(F):5'- GAAGAATTAGCCTCGTTTTTCTTTGC -3'
(R):5'- CGGAACATTCTCTCTGTGCAGAAG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation