Incidental Mutation 'IGL02353:Syt16'
| ID |
289568 |
| 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 # |
IGL02353
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
74044490-74314690 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74176245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 38
(N38S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110451]
[ENSMUST00000221220]
|
| AlphaFold |
Q7TN83 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110451
AA Change: N38S
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000106081
Gene: ENSMUSG00000044912
AA Change: N38S
| 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: ENSMUST00000221073
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221220
AA Change: N38S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221973
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh18a1 |
A |
T |
19: 40,566,364 (GRCm39) |
V102D |
probably damaging |
Het |
| Car4 |
C |
T |
11: 84,856,593 (GRCm39) |
P294S |
probably damaging |
Het |
| Casp6 |
C |
T |
3: 129,704,175 (GRCm39) |
S87L |
probably damaging |
Het |
| Ccdc121rt1 |
T |
C |
1: 181,338,190 (GRCm39) |
E254G |
possibly damaging |
Het |
| Ccnl1 |
A |
C |
3: 65,856,141 (GRCm39) |
C255G |
probably damaging |
Het |
| Celf4 |
T |
C |
18: 25,619,955 (GRCm39) |
I485M |
probably damaging |
Het |
| Cntln |
A |
G |
4: 84,968,087 (GRCm39) |
R769G |
probably damaging |
Het |
| Cstdc1 |
A |
G |
2: 148,625,387 (GRCm39) |
|
probably benign |
Het |
| Cyp2d12 |
T |
C |
15: 82,443,171 (GRCm39) |
V360A |
probably benign |
Het |
| Dgki |
T |
C |
6: 36,824,324 (GRCm39) |
E1068G |
probably damaging |
Het |
| Fbxl4 |
A |
G |
4: 22,433,684 (GRCm39) |
N607S |
probably benign |
Het |
| Fgd4 |
T |
C |
16: 16,279,909 (GRCm39) |
I383V |
probably damaging |
Het |
| Fgd6 |
C |
T |
10: 93,974,258 (GRCm39) |
T1333I |
possibly damaging |
Het |
| Got1 |
A |
G |
19: 43,512,882 (GRCm39) |
S5P |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,764,560 (GRCm39) |
N995K |
probably damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,641,681 (GRCm39) |
F159S |
probably damaging |
Het |
| Krt87 |
T |
C |
15: 101,383,339 (GRCm39) |
S456G |
probably benign |
Het |
| Lhb |
T |
C |
7: 45,070,718 (GRCm39) |
V32A |
possibly damaging |
Het |
| Mau2 |
A |
T |
8: 70,472,288 (GRCm39) |
V602E |
probably damaging |
Het |
| Mpst |
C |
T |
15: 78,294,285 (GRCm39) |
L6F |
probably damaging |
Het |
| Nlrp2 |
G |
A |
7: 5,340,598 (GRCm39) |
T72I |
probably damaging |
Het |
| Or8g20 |
A |
G |
9: 39,396,444 (GRCm39) |
I32T |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,569,142 (GRCm39) |
Y1239C |
probably damaging |
Het |
| Slc22a8 |
T |
C |
19: 8,585,619 (GRCm39) |
F328S |
possibly damaging |
Het |
| Spns1 |
C |
T |
7: 125,974,312 (GRCm39) |
R94Q |
probably damaging |
Het |
| Sult2a3 |
G |
A |
7: 13,855,575 (GRCm39) |
R94* |
probably null |
Het |
| Tbc1d1 |
G |
A |
5: 64,414,179 (GRCm39) |
R180Q |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,460,635 (GRCm39) |
I2632T |
probably benign |
Het |
| Vcam1 |
T |
A |
3: 115,909,543 (GRCm39) |
I595F |
possibly damaging |
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 |
|
IGL01401:Syt16
|
APN |
12 |
74,269,437 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation