Incidental Mutation 'R6547:Syt14'
| ID |
521238 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syt14
|
| Ensembl Gene |
ENSMUSG00000016200 |
| Gene Name |
synaptotagmin XIV |
| Synonyms |
B230320I09Rik |
| MMRRC Submission |
044672-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6547 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
192573541-192718083 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 192584177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 696
(H696N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151129
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016344]
[ENSMUST00000195354]
[ENSMUST00000195530]
[ENSMUST00000215093]
|
| AlphaFold |
Q7TN84 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000016344
AA Change: H413N
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000016344
Gene: ENSMUSG00000016200
AA Change: H413N
| 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
AA Change: H413N
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000142190
Gene: ENSMUSG00000016200
AA Change: H413N
| 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: H696N
PolyPhen 2
Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.2108 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
| Validation Efficiency |
98% (53/54) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
T |
2: 68,490,251 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
T |
A |
11: 9,224,757 (GRCm39) |
V490E |
probably benign |
Het |
| Abca2 |
G |
T |
2: 25,323,350 (GRCm39) |
G106V |
possibly damaging |
Het |
| Ablim3 |
T |
C |
18: 61,957,000 (GRCm39) |
T276A |
probably benign |
Het |
| Anxa7 |
A |
G |
14: 20,519,461 (GRCm39) |
V119A |
probably benign |
Het |
| Arl9 |
A |
G |
5: 77,158,257 (GRCm39) |
|
probably null |
Het |
| Atm |
T |
C |
9: 53,351,457 (GRCm39) |
Y2964C |
probably damaging |
Het |
| Bbs9 |
T |
C |
9: 22,425,365 (GRCm39) |
Y140H |
probably benign |
Het |
| Calcr |
A |
T |
6: 3,717,177 (GRCm39) |
D94E |
probably damaging |
Het |
| Celsr3 |
T |
A |
9: 108,706,327 (GRCm39) |
Y937N |
probably damaging |
Het |
| Cemip2 |
A |
T |
19: 21,822,195 (GRCm39) |
T1197S |
probably benign |
Het |
| Clca3a1 |
C |
T |
3: 144,442,708 (GRCm39) |
A779T |
probably damaging |
Het |
| Clec9a |
T |
A |
6: 129,393,339 (GRCm39) |
V94D |
probably benign |
Het |
| Colec12 |
G |
T |
18: 9,840,351 (GRCm39) |
L57F |
probably damaging |
Het |
| Fa2h |
T |
C |
8: 112,074,652 (GRCm39) |
Y317C |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,448,607 (GRCm39) |
T1282A |
probably damaging |
Het |
| Gm10801 |
AAGT |
AAGTAGT |
2: 98,494,148 (GRCm39) |
|
probably null |
Het |
| Hcn2 |
G |
T |
10: 79,552,986 (GRCm39) |
V162L |
probably benign |
Het |
| Hycc1 |
T |
C |
5: 24,170,098 (GRCm39) |
N417S |
probably benign |
Het |
| Kbtbd11 |
T |
A |
8: 15,077,641 (GRCm39) |
V80E |
possibly damaging |
Het |
| Lama4 |
A |
G |
10: 38,949,652 (GRCm39) |
D915G |
probably damaging |
Het |
| Limch1 |
A |
T |
5: 67,186,117 (GRCm39) |
E806V |
probably damaging |
Het |
| Mppe1 |
T |
C |
18: 67,362,059 (GRCm39) |
I169V |
probably benign |
Het |
| Msc |
A |
C |
1: 14,825,969 (GRCm39) |
S2A |
possibly damaging |
Het |
| Nploc4 |
A |
G |
11: 120,319,348 (GRCm39) |
|
probably null |
Het |
| Nr3c2 |
A |
T |
8: 77,635,438 (GRCm39) |
I180F |
possibly damaging |
Het |
| Nrap |
G |
T |
19: 56,339,998 (GRCm39) |
H840N |
probably benign |
Het |
| Or8a1 |
T |
A |
9: 37,641,791 (GRCm39) |
M163L |
probably benign |
Het |
| Pate13 |
T |
A |
9: 35,819,781 (GRCm39) |
M15K |
probably null |
Het |
| Pdlim1 |
G |
A |
19: 40,211,564 (GRCm39) |
T243I |
probably damaging |
Het |
| Pfkl |
T |
A |
10: 77,831,188 (GRCm39) |
M318L |
probably benign |
Het |
| Rap1gds1 |
C |
A |
3: 138,661,099 (GRCm39) |
R426L |
probably damaging |
Het |
| Ric1 |
A |
G |
19: 29,572,226 (GRCm39) |
N674D |
probably damaging |
Het |
| Rp1 |
G |
A |
1: 4,240,528 (GRCm39) |
T875I |
unknown |
Het |
| Rtn1 |
G |
T |
12: 72,355,535 (GRCm39) |
S137Y |
possibly damaging |
Het |
| Scn2a |
A |
G |
2: 65,546,241 (GRCm39) |
I935V |
probably benign |
Het |
| Serpina1a |
C |
T |
12: 103,822,180 (GRCm39) |
V251M |
probably damaging |
Het |
| Slc19a3 |
A |
G |
1: 83,000,621 (GRCm39) |
V132A |
probably damaging |
Het |
| Slc26a6 |
T |
A |
9: 108,737,981 (GRCm39) |
|
probably null |
Het |
| Slc2a5 |
T |
A |
4: 150,220,076 (GRCm39) |
V164D |
possibly damaging |
Het |
| Slc4a1 |
T |
A |
11: 102,247,561 (GRCm39) |
T441S |
probably damaging |
Het |
| Stk33 |
T |
C |
7: 108,920,042 (GRCm39) |
I366V |
possibly damaging |
Het |
| Tcaim |
T |
A |
9: 122,643,531 (GRCm39) |
V77D |
probably benign |
Het |
| Tefm |
T |
G |
11: 80,031,210 (GRCm39) |
|
probably null |
Het |
| Tekt3 |
T |
A |
11: 62,961,304 (GRCm39) |
S158T |
possibly damaging |
Het |
| Tspan11 |
T |
A |
6: 127,926,766 (GRCm39) |
M238K |
possibly damaging |
Het |
| Unc5c |
A |
T |
3: 141,495,780 (GRCm39) |
T476S |
probably benign |
Het |
| Usp9y |
A |
T |
Y: 1,444,612 (GRCm39) |
L109Q |
probably damaging |
Homo |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vps13c |
C |
A |
9: 67,880,647 (GRCm39) |
Q3495K |
probably damaging |
Het |
| Zbtb10 |
G |
A |
3: 9,316,763 (GRCm39) |
A192T |
probably benign |
Het |
| Zfp316 |
A |
T |
5: 143,239,952 (GRCm39) |
V689D |
probably damaging |
Het |
| Zswim1 |
A |
G |
2: 164,666,716 (GRCm39) |
|
probably benign |
Het |
| Zswim5 |
T |
C |
4: 116,844,100 (GRCm39) |
L1046P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTCCCCTAAGTGCCGAAAAC -3'
(R):5'- AGCATTGCCGTTTTACTGC -3'
Sequencing Primer
(F):5'- GTCCCCTAAGTGCCGAAAACATTAAG -3'
(R):5'- CATGATGTTTGAGACAGAGCTTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation