Incidental Mutation 'IGL01314:Stxbp4'
ID |
278268 |
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 # |
IGL01314
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
C |
T |
15: 11,071,939 (GRCm39) |
A161V |
probably benign |
Het |
Bptf |
A |
T |
11: 106,945,679 (GRCm39) |
V2520E |
probably damaging |
Het |
C87436 |
T |
C |
6: 86,434,837 (GRCm39) |
F395S |
probably damaging |
Het |
Capn1 |
T |
C |
19: 6,040,014 (GRCm39) |
|
probably benign |
Het |
Ceacam5 |
T |
A |
7: 17,481,181 (GRCm39) |
Y309* |
probably null |
Het |
Clasp2 |
A |
G |
9: 113,735,195 (GRCm39) |
D1011G |
possibly damaging |
Het |
Csmd3 |
A |
G |
15: 47,713,151 (GRCm39) |
Y1608H |
probably damaging |
Het |
Dcaf1 |
T |
C |
9: 106,711,390 (GRCm39) |
I77T |
probably benign |
Het |
Dcdc2a |
T |
C |
13: 25,286,587 (GRCm39) |
L170P |
probably damaging |
Het |
Ddx28 |
A |
G |
8: 106,737,212 (GRCm39) |
F282S |
probably damaging |
Het |
Egf |
A |
G |
3: 129,479,909 (GRCm39) |
I497T |
probably benign |
Het |
Emsy |
A |
G |
7: 98,242,662 (GRCm39) |
V1159A |
probably benign |
Het |
Hk3 |
C |
A |
13: 55,154,876 (GRCm39) |
|
probably benign |
Het |
Htt |
A |
G |
5: 35,036,200 (GRCm39) |
D2049G |
probably benign |
Het |
Inpp5d |
C |
A |
1: 87,611,472 (GRCm39) |
S45* |
probably null |
Het |
Irf8 |
A |
G |
8: 121,480,119 (GRCm39) |
Y119C |
probably damaging |
Het |
Klk1b4 |
T |
C |
7: 43,860,600 (GRCm39) |
|
probably null |
Het |
Macf1 |
A |
G |
4: 123,380,513 (GRCm39) |
S1273P |
probably damaging |
Het |
Man2c1 |
A |
T |
9: 57,049,103 (GRCm39) |
H867L |
probably benign |
Het |
Mgat4e |
T |
C |
1: 134,469,187 (GRCm39) |
T286A |
probably damaging |
Het |
Mug2 |
T |
C |
6: 122,058,238 (GRCm39) |
F1267L |
possibly damaging |
Het |
Necab1 |
T |
A |
4: 15,005,079 (GRCm39) |
E128D |
probably damaging |
Het |
Or10ak9 |
G |
A |
4: 118,726,328 (GRCm39) |
V117I |
probably benign |
Het |
Pds5a |
A |
G |
5: 65,772,637 (GRCm39) |
V1322A |
probably benign |
Het |
Poc1b |
C |
T |
10: 98,965,503 (GRCm39) |
T144I |
probably damaging |
Het |
Prcc |
T |
A |
3: 87,777,387 (GRCm39) |
N196Y |
probably damaging |
Het |
Psma5 |
G |
A |
3: 108,187,111 (GRCm39) |
V237M |
possibly damaging |
Het |
Rap1gds1 |
A |
G |
3: 138,756,322 (GRCm39) |
L11P |
probably damaging |
Het |
Rapgef3 |
A |
G |
15: 97,646,104 (GRCm39) |
F132S |
probably damaging |
Het |
Rgs13 |
T |
G |
1: 144,047,179 (GRCm39) |
D14A |
probably benign |
Het |
Rlig1 |
A |
C |
10: 100,409,473 (GRCm39) |
D313E |
probably damaging |
Het |
Tcerg1 |
C |
A |
18: 42,706,374 (GRCm39) |
A1017D |
probably damaging |
Het |
Tent5c |
T |
C |
3: 100,380,490 (GRCm39) |
K89E |
probably benign |
Het |
Tmem79 |
T |
C |
3: 88,239,883 (GRCm39) |
I276V |
possibly damaging |
Het |
Tmem94 |
C |
A |
11: 115,680,835 (GRCm39) |
H113N |
probably damaging |
Het |
Vil1 |
G |
A |
1: 74,467,397 (GRCm39) |
D715N |
probably damaging |
Het |
Vmn2r96 |
A |
G |
17: 18,803,226 (GRCm39) |
T187A |
probably benign |
Het |
Zfhx4 |
T |
A |
3: 5,478,154 (GRCm39) |
S3590T |
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 |
|
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 |
|
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 |