Incidental Mutation 'IGL00984:Syt16'
| ID |
28793 |
| 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 # |
IGL00984
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
74044490-74314690 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 74269604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 148
(Q148*)
|
| 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 |
probably null
Transcript: ENSMUST00000221220
AA Change: Q148*
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26b |
T |
A |
8: 43,973,410 (GRCm39) |
N531Y |
possibly damaging |
Het |
| Adamts12 |
G |
A |
15: 11,215,696 (GRCm39) |
R239K |
probably benign |
Het |
| Alppl2 |
T |
A |
1: 87,016,534 (GRCm39) |
H180L |
probably damaging |
Het |
| Atp10a |
T |
C |
7: 58,308,489 (GRCm39) |
V96A |
probably damaging |
Het |
| Atp2c1 |
T |
A |
9: 105,295,778 (GRCm39) |
I649F |
probably damaging |
Het |
| Atp6v1h |
A |
G |
1: 5,165,905 (GRCm39) |
Y125C |
probably damaging |
Het |
| Cds2 |
T |
C |
2: 132,140,441 (GRCm39) |
V213A |
probably benign |
Het |
| Csnk1a1 |
A |
G |
18: 61,708,624 (GRCm39) |
|
probably benign |
Het |
| Ctdspl2 |
C |
T |
2: 121,799,767 (GRCm39) |
|
probably benign |
Het |
| Dohh |
G |
A |
10: 81,223,756 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
T |
1: 34,295,401 (GRCm39) |
D5971V |
probably damaging |
Het |
| Focad |
G |
T |
4: 88,263,022 (GRCm39) |
M1006I |
unknown |
Het |
| Garin5b |
C |
T |
7: 4,760,526 (GRCm39) |
V729M |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,376,546 (GRCm39) |
D1322G |
probably damaging |
Het |
| Mcm3ap |
G |
T |
10: 76,335,400 (GRCm39) |
S1274I |
probably damaging |
Het |
| Mrpl42 |
C |
T |
10: 95,326,202 (GRCm39) |
V97I |
probably benign |
Het |
| Or4p21 |
A |
T |
2: 88,276,539 (GRCm39) |
F248I |
probably damaging |
Het |
| Pabpc6 |
A |
T |
17: 9,887,618 (GRCm39) |
L311H |
probably damaging |
Het |
| Pdzrn3 |
A |
T |
6: 101,331,447 (GRCm39) |
S276T |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,176,796 (GRCm39) |
C383* |
probably null |
Het |
| Pik3r6 |
A |
G |
11: 68,424,445 (GRCm39) |
D350G |
probably benign |
Het |
| Ptcd1 |
C |
T |
5: 145,102,239 (GRCm39) |
V27I |
probably benign |
Het |
| Ranbp2 |
A |
T |
10: 58,297,786 (GRCm39) |
R398* |
probably null |
Het |
| Rpl3l |
T |
C |
17: 24,954,445 (GRCm39) |
C336R |
probably damaging |
Het |
| Rxfp2 |
T |
C |
5: 149,990,597 (GRCm39) |
S443P |
probably benign |
Het |
| Sec24b |
T |
C |
3: 129,814,295 (GRCm39) |
|
probably benign |
Het |
| Septin11 |
T |
C |
5: 93,310,043 (GRCm39) |
M282T |
possibly damaging |
Het |
| Timm23 |
A |
G |
14: 31,902,612 (GRCm39) |
I177T |
probably benign |
Het |
| Treh |
A |
G |
9: 44,594,264 (GRCm39) |
|
probably benign |
Het |
| Vmn1r71 |
A |
G |
7: 10,482,046 (GRCm39) |
V214A |
probably damaging |
Het |
| Zfp715 |
G |
A |
7: 42,949,208 (GRCm39) |
P251S |
probably benign |
Het |
|
| Other mutations in Syt16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation