Incidental Mutation 'IGL01377:Stxbp4'
| ID |
278321 |
| 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 # |
IGL01377
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
90367318-90528910 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 90512475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116191
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020858]
[ENSMUST00000107872]
[ENSMUST00000107875]
[ENSMUST00000132905]
[ENSMUST00000143203]
|
| AlphaFold |
Q9WV89 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020858
|
| SMART Domains |
Protein: ENSMUSP00000020858
Gene: ENSMUSG00000020546
| 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 |
probably benign
Transcript: ENSMUST00000107872
|
| SMART Domains |
Protein: ENSMUSP00000103504
Gene: ENSMUSG00000020546
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
29 |
109 |
6.13e-10 |
SMART |
|
low complexity region
|
131 |
154 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107875
|
| SMART Domains |
Protein: ENSMUSP00000103507
Gene: ENSMUSG00000020546
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
29 |
109 |
6.13e-10 |
SMART |
|
low complexity region
|
131 |
154 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132905
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143203
|
| SMART Domains |
Protein: ENSMUSP00000116191
Gene: ENSMUSG00000020546
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
T |
17: 48,460,108 (GRCm39) |
V196D |
probably damaging |
Het |
| Ago1 |
C |
T |
4: 126,353,610 (GRCm39) |
V279M |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,027,601 (GRCm39) |
|
probably null |
Het |
| Ccdc170 |
A |
G |
10: 4,510,966 (GRCm39) |
D675G |
probably damaging |
Het |
| Cdc42bpa |
T |
A |
1: 179,892,708 (GRCm39) |
Y291N |
probably damaging |
Het |
| Cdca5 |
T |
C |
19: 6,140,312 (GRCm39) |
S158P |
probably damaging |
Het |
| Cdh8 |
A |
G |
8: 99,760,021 (GRCm39) |
I576T |
probably damaging |
Het |
| Cpsf2 |
T |
A |
12: 101,953,640 (GRCm39) |
|
probably null |
Het |
| Cyc1 |
C |
T |
15: 76,229,162 (GRCm39) |
R143* |
probably null |
Het |
| Dcaf6 |
A |
T |
1: 165,216,293 (GRCm39) |
S437T |
probably benign |
Het |
| Eif5b |
A |
G |
1: 38,075,179 (GRCm39) |
D552G |
probably benign |
Het |
| Epor |
T |
C |
9: 21,870,593 (GRCm39) |
D429G |
probably damaging |
Het |
| Farp2 |
A |
G |
1: 93,531,181 (GRCm39) |
I560V |
possibly damaging |
Het |
| Fbxw21 |
T |
A |
9: 108,975,713 (GRCm39) |
R228* |
probably null |
Het |
| Fyb1 |
T |
C |
15: 6,609,801 (GRCm39) |
S125P |
probably benign |
Het |
| Gfm1 |
A |
T |
3: 67,382,086 (GRCm39) |
Y720F |
probably damaging |
Het |
| Hspbap1 |
T |
A |
16: 35,645,681 (GRCm39) |
D455E |
possibly damaging |
Het |
| Katnal2 |
T |
C |
18: 77,090,153 (GRCm39) |
R285G |
probably damaging |
Het |
| Kif12 |
G |
A |
4: 63,088,962 (GRCm39) |
T153I |
probably damaging |
Het |
| Klhl31 |
T |
C |
9: 77,558,013 (GRCm39) |
F243S |
probably benign |
Het |
| Large2 |
A |
G |
2: 92,199,676 (GRCm39) |
Y208H |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,491,550 (GRCm39) |
V239A |
probably damaging |
Het |
| Mblac2 |
G |
A |
13: 81,898,266 (GRCm39) |
R214H |
probably damaging |
Het |
| Mlf2 |
A |
G |
6: 124,911,654 (GRCm39) |
N168D |
probably damaging |
Het |
| Mtmr6 |
T |
A |
14: 60,519,483 (GRCm39) |
Y134* |
probably null |
Het |
| Mtus1 |
T |
C |
8: 41,536,172 (GRCm39) |
K515E |
possibly damaging |
Het |
| Nek1 |
A |
G |
8: 61,542,490 (GRCm39) |
T718A |
probably benign |
Het |
| Nfx1 |
A |
G |
4: 40,977,241 (GRCm39) |
N305S |
probably benign |
Het |
| Nrxn3 |
T |
A |
12: 89,499,782 (GRCm39) |
|
probably null |
Het |
| Nsf |
T |
C |
11: 103,763,473 (GRCm39) |
D377G |
probably damaging |
Het |
| Pde4b |
A |
G |
4: 102,344,599 (GRCm39) |
E102G |
probably damaging |
Het |
| Pdlim4 |
G |
T |
11: 53,947,130 (GRCm39) |
S56R |
probably benign |
Het |
| Poc5 |
T |
C |
13: 96,538,139 (GRCm39) |
V268A |
probably benign |
Het |
| Sec23b |
A |
C |
2: 144,401,157 (GRCm39) |
E6A |
probably damaging |
Het |
| Sgsm1 |
A |
T |
5: 113,424,048 (GRCm39) |
|
probably benign |
Het |
| Slc16a12 |
T |
A |
19: 34,650,084 (GRCm39) |
N317I |
possibly damaging |
Het |
| Slc1a7 |
A |
T |
4: 107,850,162 (GRCm39) |
D91V |
probably damaging |
Het |
| Slc30a9 |
T |
G |
5: 67,473,173 (GRCm39) |
S86A |
probably benign |
Het |
| Tacr1 |
T |
C |
6: 82,380,636 (GRCm39) |
S16P |
probably benign |
Het |
| Tmtc1 |
A |
C |
6: 148,147,285 (GRCm39) |
V804G |
possibly damaging |
Het |
| Ttc7b |
A |
G |
12: 100,321,371 (GRCm39) |
F587L |
probably benign |
Het |
| Vmn2r86 |
A |
T |
10: 130,288,855 (GRCm39) |
D215E |
probably damaging |
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 |
|
|
IGL01380:Stxbp4
|
APN |
11 |
90,512,475 (GRCm39) |
splice site |
probably benign |
|
|
IGL01385:Stxbp4
|
APN |
11 |
90,431,074 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
2015-04-16 |
Incidental Mutation