Incidental Mutation 'IGL01401:Syt16'
ID |
79655 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Syt16
|
Ensembl Gene |
ENSMUSG00000044912 |
Gene Name |
synaptotagmin XVI |
Synonyms |
syt14r, Strep14, Syt14l |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01401
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
74044490-74314690 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 74269437 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 92
(V92A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152623
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110451]
[ENSMUST00000221220]
|
AlphaFold |
Q7TN83 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000110451
|
SMART Domains |
Protein: ENSMUSP00000106081 Gene: ENSMUSG00000044912
Domain | Start | End | E-Value | Type |
transmembrane domain
|
9 |
31 |
N/A |
INTRINSIC |
low complexity region
|
70 |
83 |
N/A |
INTRINSIC |
C2
|
270 |
372 |
8.91e-4 |
SMART |
low complexity region
|
386 |
407 |
N/A |
INTRINSIC |
C2
|
425 |
541 |
7.07e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189898
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221220
AA Change: V92A
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl3 |
T |
C |
5: 81,836,516 (GRCm39) |
V758A |
possibly damaging |
Het |
Arf4 |
T |
C |
14: 26,359,609 (GRCm39) |
L12P |
probably damaging |
Het |
Bltp1 |
A |
G |
3: 36,996,441 (GRCm39) |
N1051S |
probably benign |
Het |
C4bp |
A |
T |
1: 130,575,801 (GRCm39) |
V230E |
possibly damaging |
Het |
Carm1 |
T |
A |
9: 21,480,878 (GRCm39) |
|
probably null |
Het |
Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
Ceacam16 |
T |
C |
7: 19,595,054 (GRCm39) |
Y8C |
probably benign |
Het |
Ckap2l |
A |
T |
2: 129,111,136 (GRCm39) |
V687E |
probably damaging |
Het |
Dcaf4 |
A |
G |
12: 83,588,148 (GRCm39) |
D449G |
probably damaging |
Het |
Dhx38 |
T |
C |
8: 110,278,746 (GRCm39) |
Y1113C |
probably benign |
Het |
Fry |
A |
G |
5: 150,362,253 (GRCm39) |
I161V |
probably benign |
Het |
Gm17093 |
A |
C |
14: 44,758,984 (GRCm39) |
M169L |
unknown |
Het |
Gm20721 |
A |
G |
2: 174,187,295 (GRCm39) |
D999G |
probably damaging |
Het |
Grin2b |
T |
C |
6: 135,713,361 (GRCm39) |
H840R |
probably damaging |
Het |
Hoxc12 |
C |
A |
15: 102,845,755 (GRCm39) |
H156Q |
probably benign |
Het |
Htr3b |
T |
C |
9: 48,858,934 (GRCm39) |
D68G |
probably damaging |
Het |
Inpp5b |
T |
C |
4: 124,639,880 (GRCm39) |
V99A |
probably damaging |
Het |
Klhl42 |
C |
T |
6: 147,009,241 (GRCm39) |
T360M |
probably benign |
Het |
Lmo7 |
C |
T |
14: 102,031,713 (GRCm39) |
R36* |
probably null |
Het |
Lmod3 |
T |
G |
6: 97,229,513 (GRCm39) |
N7T |
probably damaging |
Het |
Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
Mthfd2l |
T |
A |
5: 91,148,425 (GRCm39) |
I284K |
possibly damaging |
Het |
Myo1e |
T |
A |
9: 70,234,448 (GRCm39) |
I267N |
probably damaging |
Het |
Or13c7d |
T |
C |
4: 43,770,112 (GRCm39) |
R300G |
probably damaging |
Het |
Or2y1g |
T |
A |
11: 49,171,314 (GRCm39) |
V113E |
possibly damaging |
Het |
Prkce |
T |
C |
17: 86,476,268 (GRCm39) |
V83A |
probably damaging |
Het |
Pxdn |
G |
T |
12: 30,051,983 (GRCm39) |
C540F |
probably damaging |
Het |
Resf1 |
A |
G |
6: 149,228,394 (GRCm39) |
E480G |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,606,238 (GRCm39) |
E4448V |
possibly damaging |
Het |
Scn1a |
A |
T |
2: 66,119,455 (GRCm39) |
N1349K |
probably damaging |
Het |
Smarcc1 |
T |
C |
9: 109,979,033 (GRCm39) |
I172T |
possibly damaging |
Het |
Tenm4 |
A |
G |
7: 96,523,474 (GRCm39) |
Y1672C |
probably damaging |
Het |
Tmem131 |
A |
G |
1: 36,838,468 (GRCm39) |
Y1486H |
probably damaging |
Het |
Tmem132a |
A |
G |
19: 10,838,888 (GRCm39) |
|
probably benign |
Het |
Usp40 |
A |
T |
1: 87,921,920 (GRCm39) |
D314E |
probably damaging |
Het |
Vmn2r79 |
G |
A |
7: 86,686,481 (GRCm39) |
V621I |
probably benign |
Het |
Wnk4 |
A |
G |
11: 101,167,509 (GRCm39) |
|
probably benign |
Het |
Wwc1 |
C |
A |
11: 35,789,445 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Syt16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00984:Syt16
|
APN |
12 |
74,269,604 (GRCm39) |
nonsense |
probably null |
|
IGL01287:Syt16
|
APN |
12 |
74,313,513 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01780:Syt16
|
APN |
12 |
74,313,616 (GRCm39) |
missense |
probably benign |
0.15 |
IGL02350:Syt16
|
APN |
12 |
74,313,616 (GRCm39) |
missense |
probably benign |
0.15 |
IGL02353:Syt16
|
APN |
12 |
74,176,245 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02357:Syt16
|
APN |
12 |
74,313,616 (GRCm39) |
missense |
probably benign |
0.15 |
IGL02360:Syt16
|
APN |
12 |
74,176,245 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02558:Syt16
|
APN |
12 |
74,281,832 (GRCm39) |
nonsense |
probably null |
|
IGL02696:Syt16
|
APN |
12 |
74,176,185 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0701:Syt16
|
UTSW |
12 |
74,281,886 (GRCm39) |
missense |
probably benign |
0.01 |
R1103:Syt16
|
UTSW |
12 |
74,313,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R2002:Syt16
|
UTSW |
12 |
74,281,977 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2079:Syt16
|
UTSW |
12 |
74,285,073 (GRCm39) |
missense |
probably damaging |
1.00 |
R2124:Syt16
|
UTSW |
12 |
74,285,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R3806:Syt16
|
UTSW |
12 |
74,276,172 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3807:Syt16
|
UTSW |
12 |
74,276,172 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4887:Syt16
|
UTSW |
12 |
74,176,160 (GRCm39) |
missense |
probably damaging |
0.96 |
R4889:Syt16
|
UTSW |
12 |
74,176,269 (GRCm39) |
missense |
probably damaging |
0.98 |
R5153:Syt16
|
UTSW |
12 |
74,269,542 (GRCm39) |
missense |
possibly damaging |
0.60 |
R6038:Syt16
|
UTSW |
12 |
74,269,309 (GRCm39) |
splice site |
probably null |
|
R6042:Syt16
|
UTSW |
12 |
74,313,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R6328:Syt16
|
UTSW |
12 |
74,313,467 (GRCm39) |
nonsense |
probably null |
|
R6752:Syt16
|
UTSW |
12 |
74,275,987 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7248:Syt16
|
UTSW |
12 |
74,313,483 (GRCm39) |
missense |
probably damaging |
1.00 |
R7275:Syt16
|
UTSW |
12 |
74,313,483 (GRCm39) |
missense |
probably damaging |
1.00 |
R7276:Syt16
|
UTSW |
12 |
74,313,483 (GRCm39) |
missense |
probably damaging |
1.00 |
R9058:Syt16
|
UTSW |
12 |
74,282,019 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Syt16
|
UTSW |
12 |
74,269,563 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Posted On |
2013-11-05 |