Incidental Mutation 'IGL01385:Stxbp4'
| ID |
79011 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stxbp4
|
| Ensembl Gene |
ENSMUSG00000020546 |
| Gene Name |
syntaxin binding protein 4 |
| Synonyms |
6030470M02Rik, Synip |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01385
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
90367318-90528910 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90431074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 412
(V412A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116191
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020858]
[ENSMUST00000143203]
|
| AlphaFold |
Q9WV89 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020858
AA Change: V412A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000020858
Gene: ENSMUSG00000020546
AA Change: V412A
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
29 |
109 |
6.13e-10 |
SMART |
|
low complexity region
|
131 |
154 |
N/A |
INTRINSIC |
|
coiled coil region
|
298 |
409 |
N/A |
INTRINSIC |
|
low complexity region
|
504 |
522 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119669
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000123260
AA Change: V45A
|
| SMART Domains |
Protein: ENSMUSP00000122365
Gene: ENSMUSG00000020546
AA Change: V45A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
3 |
42 |
N/A |
INTRINSIC |
|
SCOP:d1i5hw_
|
132 |
153 |
6e-7 |
SMART |
|
Blast:WW
|
135 |
153 |
3e-7 |
BLAST |
|
PDB:2YSG|A
|
136 |
153 |
4e-7 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000143203
AA Change: V412A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000116191
Gene: ENSMUSG00000020546
AA Change: V412A
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
29 |
109 |
6.13e-10 |
SMART |
|
low complexity region
|
131 |
154 |
N/A |
INTRINSIC |
|
coiled coil region
|
298 |
409 |
N/A |
INTRINSIC |
|
WW
|
501 |
533 |
1.11e-10 |
SMART |
|
| 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 |
|---|
| Ablim1 |
A |
T |
19: 57,057,346 (GRCm39) |
S292R |
probably damaging |
Het |
| Adamts19 |
A |
G |
18: 59,105,851 (GRCm39) |
T749A |
probably damaging |
Het |
| Agap2 |
A |
T |
10: 126,923,865 (GRCm39) |
I747F |
unknown |
Het |
| Arhgap35 |
T |
A |
7: 16,298,399 (GRCm39) |
N222I |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,125,256 (GRCm39) |
E1074G |
probably damaging |
Het |
| Brd3 |
T |
C |
2: 27,354,101 (GRCm39) |
T4A |
possibly damaging |
Het |
| Col6a6 |
A |
G |
9: 105,660,865 (GRCm39) |
S415P |
probably damaging |
Het |
| Dennd2a |
A |
G |
6: 39,500,070 (GRCm39) |
V165A |
probably damaging |
Het |
| Dnm1l |
T |
A |
16: 16,159,317 (GRCm39) |
E95V |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,817,995 (GRCm39) |
Y1609H |
possibly damaging |
Het |
| Esm1 |
A |
C |
13: 113,353,216 (GRCm39) |
E166A |
possibly damaging |
Het |
| F2rl2 |
A |
C |
13: 95,837,836 (GRCm39) |
I294L |
probably benign |
Het |
| Gstt3 |
A |
G |
10: 75,610,822 (GRCm39) |
S187P |
probably benign |
Het |
| Katna1 |
T |
C |
10: 7,628,574 (GRCm39) |
C268R |
probably damaging |
Het |
| Mbd5 |
T |
A |
2: 49,140,233 (GRCm39) |
C66S |
possibly damaging |
Het |
| Naa35 |
G |
A |
13: 59,748,880 (GRCm39) |
E167K |
probably damaging |
Het |
| Or10ak16 |
T |
C |
4: 118,750,748 (GRCm39) |
L156S |
probably benign |
Het |
| Osbpl2 |
A |
G |
2: 179,778,873 (GRCm39) |
N2S |
probably benign |
Het |
| Parp6 |
T |
C |
9: 59,537,895 (GRCm39) |
|
probably benign |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,267 (GRCm39) |
V549E |
probably benign |
Het |
| Pcnx4 |
T |
C |
12: 72,620,520 (GRCm39) |
L780P |
probably damaging |
Het |
| Plcb3 |
A |
T |
19: 6,935,276 (GRCm39) |
D851E |
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,749,560 (GRCm39) |
S1149G |
probably damaging |
Het |
| Prkca |
A |
G |
11: 107,869,178 (GRCm39) |
V469A |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,756,410 (GRCm39) |
V3468D |
probably damaging |
Het |
| Spmip3 |
G |
A |
1: 177,568,640 (GRCm39) |
G46R |
probably benign |
Het |
| Vmn1r238 |
G |
T |
18: 3,122,770 (GRCm39) |
Q215K |
possibly damaging |
Het |
| Wdr11 |
A |
G |
7: 129,209,637 (GRCm39) |
M482V |
probably benign |
Het |
| Wdr72 |
T |
C |
9: 74,086,788 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,340,021 (GRCm39) |
L754P |
probably damaging |
Het |
| Zmym6 |
G |
A |
4: 127,017,899 (GRCm39) |
G1135S |
probably benign |
Het |
|
| Other mutations in Stxbp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00988:Stxbp4
|
APN |
11 |
90,426,338 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01312:Stxbp4
|
APN |
11 |
90,512,475 (GRCm39) |
splice site |
probably benign |
|
|
IGL01313:Stxbp4
|
APN |
11 |
90,512,475 (GRCm39) |
splice site |
probably benign |
|
|
IGL01314:Stxbp4
|
APN |
11 |
90,512,475 (GRCm39) |
splice site |
probably benign |
|
|
IGL01316:Stxbp4
|
APN |
11 |
90,512,475 (GRCm39) |
splice site |
probably benign |
|
|
IGL01377:Stxbp4
|
APN |
11 |
90,512,475 (GRCm39) |
splice site |
probably benign |
|
|
IGL01380:Stxbp4
|
APN |
11 |
90,512,475 (GRCm39) |
splice site |
probably benign |
|
|
IGL01408:Stxbp4
|
APN |
11 |
90,512,475 (GRCm39) |
splice site |
probably benign |
|
|
IGL02573:Stxbp4
|
APN |
11 |
90,431,095 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02707:Stxbp4
|
APN |
11 |
90,428,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02809:Stxbp4
|
APN |
11 |
90,491,010 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02900:Stxbp4
|
APN |
11 |
90,497,861 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03177:Stxbp4
|
APN |
11 |
90,462,579 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03397:Stxbp4
|
APN |
11 |
90,431,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02799:Stxbp4
|
UTSW |
11 |
90,385,426 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03134:Stxbp4
|
UTSW |
11 |
90,498,010 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0005:Stxbp4
|
UTSW |
11 |
90,439,743 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0487:Stxbp4
|
UTSW |
11 |
90,483,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0930:Stxbp4
|
UTSW |
11 |
90,512,526 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R1633:Stxbp4
|
UTSW |
11 |
90,430,986 (GRCm39) |
splice site |
probably benign |
|
|
R3785:Stxbp4
|
UTSW |
11 |
90,426,441 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4359:Stxbp4
|
UTSW |
11 |
90,385,470 (GRCm39) |
nonsense |
probably null |
|
|
R4591:Stxbp4
|
UTSW |
11 |
90,485,606 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4756:Stxbp4
|
UTSW |
11 |
90,498,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5095:Stxbp4
|
UTSW |
11 |
90,439,801 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5870:Stxbp4
|
UTSW |
11 |
90,428,782 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6268:Stxbp4
|
UTSW |
11 |
90,431,027 (GRCm39) |
nonsense |
probably null |
|
|
R6460:Stxbp4
|
UTSW |
11 |
90,497,811 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6479:Stxbp4
|
UTSW |
11 |
90,510,013 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7139:Stxbp4
|
UTSW |
11 |
90,497,835 (GRCm39) |
nonsense |
probably null |
|
|
R7349:Stxbp4
|
UTSW |
11 |
90,482,937 (GRCm39) |
splice site |
probably null |
|
|
R7481:Stxbp4
|
UTSW |
11 |
90,485,639 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7812:Stxbp4
|
UTSW |
11 |
90,485,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8903:Stxbp4
|
UTSW |
11 |
90,426,267 (GRCm39) |
missense |
unknown |
|
|
R9023:Stxbp4
|
UTSW |
11 |
90,426,249 (GRCm39) |
missense |
unknown |
|
|
R9100:Stxbp4
|
UTSW |
11 |
90,426,320 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
V8831:Stxbp4
|
UTSW |
11 |
90,371,497 (GRCm39) |
missense |
probably benign |
0.34 |
|
Z1176:Stxbp4
|
UTSW |
11 |
90,371,497 (GRCm39) |
missense |
probably benign |
0.34 |
|
Z1177:Stxbp4
|
UTSW |
11 |
90,490,972 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Stxbp4
|
UTSW |
11 |
90,483,157 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Stxbp4
|
UTSW |
11 |
90,371,497 (GRCm39) |
missense |
probably benign |
0.34 |
|
| Posted On |
2013-11-05 |
Incidental Mutation