Incidental Mutation 'R1675:Syt14'
ID |
187968 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Syt14
|
Ensembl Gene |
ENSMUSG00000016200 |
Gene Name |
synaptotagmin XIV |
Synonyms |
B230320I09Rik |
MMRRC Submission |
039711-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1675 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
192573541-192718083 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 192579790 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 781
(D781G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151129
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016344]
[ENSMUST00000195354]
[ENSMUST00000195530]
[ENSMUST00000215093]
|
AlphaFold |
Q7TN84 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000016344
AA Change: D517G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000016344 Gene: ENSMUSG00000016200 AA Change: D517G
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 |
possibly damaging
Transcript: ENSMUST00000195354
AA Change: D498G
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000142190 Gene: ENSMUSG00000016200 AA Change: D498G
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 damaging
Transcript: ENSMUST00000215093
AA Change: D781G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.5%
- 20x: 93.1%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
C |
T |
1: 71,302,570 (GRCm39) |
|
probably null |
Het |
Adam6b |
T |
C |
12: 113,454,664 (GRCm39) |
Y494H |
probably benign |
Het |
Adamtsl2 |
GC |
G |
2: 26,972,497 (GRCm39) |
|
probably null |
Het |
Anapc2 |
G |
A |
2: 25,162,651 (GRCm39) |
V42M |
possibly damaging |
Het |
Aph1a |
T |
A |
3: 95,802,211 (GRCm39) |
D64E |
possibly damaging |
Het |
Arhgef11 |
C |
T |
3: 87,638,518 (GRCm39) |
A1111V |
possibly damaging |
Het |
Atoh1 |
T |
C |
6: 64,707,141 (GRCm39) |
S279P |
probably benign |
Het |
Atp10b |
A |
G |
11: 43,116,475 (GRCm39) |
T941A |
probably damaging |
Het |
Barhl1 |
C |
T |
2: 28,805,423 (GRCm39) |
R90Q |
possibly damaging |
Het |
Calr3 |
T |
C |
8: 73,185,302 (GRCm39) |
D91G |
probably damaging |
Het |
Ccdc148 |
T |
C |
2: 58,870,566 (GRCm39) |
D317G |
probably damaging |
Het |
Cnn3 |
C |
T |
3: 121,250,818 (GRCm39) |
Q19* |
probably null |
Het |
Cul5 |
T |
C |
9: 53,557,983 (GRCm39) |
D207G |
probably benign |
Het |
Cyp4x1 |
T |
C |
4: 114,984,757 (GRCm39) |
E41G |
possibly damaging |
Het |
Dagla |
T |
A |
19: 10,246,687 (GRCm39) |
M138L |
probably benign |
Het |
Dnah6 |
A |
T |
6: 73,106,523 (GRCm39) |
M1738K |
probably damaging |
Het |
Eif4enif1 |
T |
A |
11: 3,165,686 (GRCm39) |
S88T |
probably benign |
Het |
Eno3 |
T |
C |
11: 70,549,492 (GRCm39) |
|
probably null |
Het |
Erbb3 |
C |
A |
10: 128,407,073 (GRCm39) |
S1029I |
probably damaging |
Het |
Erbin |
C |
A |
13: 103,977,686 (GRCm39) |
V624L |
probably damaging |
Het |
Fam170b |
C |
T |
14: 32,557,359 (GRCm39) |
Q65* |
probably null |
Het |
Gin1 |
T |
A |
1: 97,713,780 (GRCm39) |
L360* |
probably null |
Het |
Gldc |
A |
T |
19: 30,120,853 (GRCm39) |
D359E |
probably damaging |
Het |
Gpr107 |
A |
T |
2: 31,057,063 (GRCm39) |
T52S |
possibly damaging |
Het |
Hip1r |
A |
G |
5: 124,132,883 (GRCm39) |
Y227C |
probably damaging |
Het |
Hmgxb3 |
A |
G |
18: 61,268,631 (GRCm39) |
L1004P |
probably damaging |
Het |
Hspa1l |
A |
G |
17: 35,196,419 (GRCm39) |
N153D |
probably damaging |
Het |
Itga8 |
C |
A |
2: 12,204,974 (GRCm39) |
V488L |
probably damaging |
Het |
Kcnk10 |
G |
A |
12: 98,462,547 (GRCm39) |
A134V |
probably benign |
Het |
Kif18a |
T |
A |
2: 109,128,748 (GRCm39) |
C406S |
probably benign |
Het |
Klhl28 |
A |
T |
12: 64,998,593 (GRCm39) |
S300R |
probably damaging |
Het |
Kmt2e |
C |
T |
5: 23,687,451 (GRCm39) |
Q434* |
probably null |
Het |
Lilrb4a |
A |
G |
10: 51,372,281 (GRCm39) |
T222A |
probably benign |
Het |
Lipn |
G |
A |
19: 34,058,110 (GRCm39) |
R277Q |
probably damaging |
Het |
Lrrc61 |
G |
A |
6: 48,545,708 (GRCm39) |
R177Q |
possibly damaging |
Het |
Lrrc74a |
G |
A |
12: 86,787,800 (GRCm39) |
E144K |
probably damaging |
Het |
Mal |
T |
C |
2: 127,476,964 (GRCm39) |
Y77C |
probably benign |
Het |
Map1a |
T |
A |
2: 121,133,136 (GRCm39) |
C1079* |
probably null |
Het |
Mbd5 |
T |
A |
2: 49,146,230 (GRCm39) |
S147T |
possibly damaging |
Het |
Nsd2 |
T |
A |
5: 34,018,493 (GRCm39) |
M509K |
probably benign |
Het |
Or13p4 |
C |
T |
4: 118,547,145 (GRCm39) |
R168H |
probably benign |
Het |
Or1ad8 |
T |
C |
11: 50,898,464 (GRCm39) |
F222L |
probably benign |
Het |
Or5an1c |
C |
T |
19: 12,218,195 (GRCm39) |
V277I |
probably benign |
Het |
Or6p1 |
T |
C |
1: 174,258,663 (GRCm39) |
V223A |
probably benign |
Het |
Rcor2 |
C |
T |
19: 7,247,546 (GRCm39) |
L45F |
probably damaging |
Het |
Rpl12 |
T |
A |
2: 32,853,537 (GRCm39) |
D107E |
probably benign |
Het |
Rpl7l1 |
A |
T |
17: 47,089,117 (GRCm39) |
F205I |
probably damaging |
Het |
Samd4b |
C |
T |
7: 28,113,435 (GRCm39) |
G177R |
probably damaging |
Het |
Sema4a |
A |
T |
3: 88,362,073 (GRCm39) |
F18I |
possibly damaging |
Het |
Slc37a1 |
A |
T |
17: 31,557,048 (GRCm39) |
T405S |
probably damaging |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Tasor2 |
T |
C |
13: 3,619,507 (GRCm39) |
I2241M |
possibly damaging |
Het |
Tprn |
T |
G |
2: 25,154,421 (GRCm39) |
D574E |
probably benign |
Het |
Trim75 |
T |
A |
8: 65,435,163 (GRCm39) |
E429V |
probably damaging |
Het |
Trit1 |
C |
T |
4: 122,948,029 (GRCm39) |
R450C |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Unc13c |
A |
G |
9: 73,546,332 (GRCm39) |
|
probably null |
Het |
Usp49 |
C |
A |
17: 47,984,335 (GRCm39) |
L447I |
probably damaging |
Het |
Vmn1r20 |
T |
C |
6: 57,408,937 (GRCm39) |
C88R |
probably benign |
Het |
Zfp94 |
T |
A |
7: 24,002,259 (GRCm39) |
K394N |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGAAGAGGACTCTCCAGGGAACG -3'
(R):5'- TGATGTCCCGCTTAGTGGAGTGAC -3'
Sequencing Primer
(F):5'- CGACTTCCTCAGGACTCCAG -3'
(R):5'- GTGAGGCTAAGCCATTACTACTAC -3'
|
Posted On |
2014-05-09 |