Incidental Mutation 'IGL02546:Sh3bp4'
ID |
297852 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sh3bp4
|
Ensembl Gene |
ENSMUSG00000036206 |
Gene Name |
SH3-domain binding protein 4 |
Synonyms |
BOG25 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02546
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
88998137-89082790 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 89071266 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067581
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066279]
|
AlphaFold |
Q921I6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066279
|
SMART Domains |
Protein: ENSMUSP00000067581 Gene: ENSMUSG00000036206
Domain | Start | End | E-Value | Type |
SH3
|
58 |
113 |
5.04e-13 |
SMART |
low complexity region
|
196 |
212 |
N/A |
INTRINSIC |
Pfam:ZU5
|
318 |
411 |
1.8e-12 |
PFAM |
Pfam:SH3_2
|
657 |
721 |
3.5e-13 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. This protein is involved in cargo-specific control of clathrin-mediated endocytosis, specifically controlling the internalization of a specific protein receptor. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap6 |
G |
T |
12: 52,927,521 (GRCm39) |
V144L |
probably damaging |
Het |
Carmil1 |
A |
T |
13: 24,299,482 (GRCm39) |
N347K |
probably damaging |
Het |
Cyp4a32 |
A |
G |
4: 115,468,520 (GRCm39) |
Y334C |
probably damaging |
Het |
Dmxl2 |
C |
A |
9: 54,273,698 (GRCm39) |
|
probably benign |
Het |
Eps8 |
C |
T |
6: 137,456,064 (GRCm39) |
A806T |
probably benign |
Het |
Evl |
A |
G |
12: 108,614,678 (GRCm39) |
N24S |
possibly damaging |
Het |
Fbxo15 |
T |
C |
18: 84,980,847 (GRCm39) |
|
probably null |
Het |
Gm14179 |
A |
T |
11: 99,634,019 (GRCm39) |
|
|
Het |
Hepacam2 |
A |
G |
6: 3,483,568 (GRCm39) |
V147A |
possibly damaging |
Het |
Jmjd1c |
C |
A |
10: 67,061,115 (GRCm39) |
P1156Q |
possibly damaging |
Het |
Mab21l3 |
A |
T |
3: 101,730,624 (GRCm39) |
V205E |
probably damaging |
Het |
Mad2l1 |
T |
C |
6: 66,512,951 (GRCm39) |
I28T |
probably damaging |
Het |
Minar2 |
T |
A |
18: 59,205,347 (GRCm39) |
M45K |
probably damaging |
Het |
Mroh9 |
T |
A |
1: 162,908,145 (GRCm39) |
I2F |
probably benign |
Het |
Msr1 |
A |
T |
8: 40,068,788 (GRCm39) |
I302K |
probably benign |
Het |
Msrb3 |
C |
T |
10: 120,685,906 (GRCm39) |
V80I |
possibly damaging |
Het |
Ncf4 |
A |
G |
15: 78,145,219 (GRCm39) |
D269G |
probably damaging |
Het |
Nsl1 |
T |
A |
1: 190,803,398 (GRCm39) |
H156Q |
probably benign |
Het |
Nutm1 |
T |
C |
2: 112,078,669 (GRCm39) |
D1082G |
probably benign |
Het |
Or6c216 |
T |
A |
10: 129,678,416 (GRCm39) |
D165V |
probably damaging |
Het |
Or7g20 |
T |
A |
9: 18,946,650 (GRCm39) |
V77D |
possibly damaging |
Het |
Orc4 |
T |
C |
2: 48,807,296 (GRCm39) |
I212V |
probably null |
Het |
Pde6c |
A |
G |
19: 38,128,488 (GRCm39) |
I184V |
probably benign |
Het |
Pfkfb3 |
A |
T |
2: 11,493,589 (GRCm39) |
F129Y |
probably damaging |
Het |
Ppp3cb |
T |
C |
14: 20,551,622 (GRCm39) |
D493G |
probably benign |
Het |
Psg29 |
A |
G |
7: 16,942,707 (GRCm39) |
Y236C |
probably damaging |
Het |
Pzp |
C |
T |
6: 128,471,662 (GRCm39) |
|
probably benign |
Het |
Semp2l2b |
A |
T |
10: 21,942,826 (GRCm39) |
W385R |
probably damaging |
Het |
Sgf29 |
T |
A |
7: 126,271,025 (GRCm39) |
V180E |
probably damaging |
Het |
Slc39a2 |
A |
T |
14: 52,132,620 (GRCm39) |
T188S |
probably benign |
Het |
Slc6a13 |
G |
T |
6: 121,310,323 (GRCm39) |
M327I |
probably benign |
Het |
Slitrk6 |
T |
A |
14: 110,987,226 (GRCm39) |
H827L |
probably benign |
Het |
Thumpd2 |
T |
G |
17: 81,361,884 (GRCm39) |
K114T |
probably benign |
Het |
Tnfrsf19 |
A |
T |
14: 61,210,987 (GRCm39) |
C234S |
possibly damaging |
Het |
Tns2 |
A |
G |
15: 102,019,375 (GRCm39) |
D446G |
probably damaging |
Het |
Tpm4 |
A |
G |
8: 72,898,547 (GRCm39) |
E137G |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,625,901 (GRCm39) |
R13307C |
probably damaging |
Het |
Ubqln3 |
A |
G |
7: 103,791,725 (GRCm39) |
S122P |
probably benign |
Het |
Ubr5 |
T |
C |
15: 38,008,991 (GRCm39) |
D1080G |
probably benign |
Het |
Ulk4 |
A |
T |
9: 120,981,373 (GRCm39) |
L886* |
probably null |
Het |
Unc80 |
T |
C |
1: 66,594,112 (GRCm39) |
S1164P |
possibly damaging |
Het |
Uspl1 |
T |
C |
5: 149,141,114 (GRCm39) |
V371A |
possibly damaging |
Het |
Virma |
T |
C |
4: 11,494,804 (GRCm39) |
V35A |
probably damaging |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
Zfp787 |
A |
T |
7: 6,135,297 (GRCm39) |
I318N |
probably damaging |
Het |
|
Other mutations in Sh3bp4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01062:Sh3bp4
|
APN |
1 |
89,071,682 (GRCm39) |
missense |
probably benign |
|
IGL01344:Sh3bp4
|
APN |
1 |
89,080,958 (GRCm39) |
missense |
probably benign |
|
IGL02025:Sh3bp4
|
APN |
1 |
89,073,008 (GRCm39) |
missense |
probably benign |
0.40 |
IGL02035:Sh3bp4
|
APN |
1 |
89,071,412 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02389:Sh3bp4
|
APN |
1 |
89,072,870 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02430:Sh3bp4
|
APN |
1 |
89,080,885 (GRCm39) |
missense |
probably null |
0.00 |
IGL03327:Sh3bp4
|
APN |
1 |
89,071,885 (GRCm39) |
nonsense |
probably null |
|
I0000:Sh3bp4
|
UTSW |
1 |
89,065,518 (GRCm39) |
missense |
probably benign |
0.01 |
PIT4366001:Sh3bp4
|
UTSW |
1 |
89,073,156 (GRCm39) |
missense |
probably benign |
|
R0128:Sh3bp4
|
UTSW |
1 |
89,073,036 (GRCm39) |
missense |
possibly damaging |
0.54 |
R0130:Sh3bp4
|
UTSW |
1 |
89,073,036 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1370:Sh3bp4
|
UTSW |
1 |
89,071,494 (GRCm39) |
missense |
probably benign |
0.43 |
R1500:Sh3bp4
|
UTSW |
1 |
89,073,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R2269:Sh3bp4
|
UTSW |
1 |
89,073,314 (GRCm39) |
missense |
possibly damaging |
0.62 |
R3407:Sh3bp4
|
UTSW |
1 |
89,072,769 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3408:Sh3bp4
|
UTSW |
1 |
89,072,769 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3615:Sh3bp4
|
UTSW |
1 |
89,065,427 (GRCm39) |
missense |
probably damaging |
0.99 |
R3616:Sh3bp4
|
UTSW |
1 |
89,065,427 (GRCm39) |
missense |
probably damaging |
0.99 |
R3721:Sh3bp4
|
UTSW |
1 |
89,073,050 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3983:Sh3bp4
|
UTSW |
1 |
89,073,591 (GRCm39) |
missense |
probably benign |
0.00 |
R4631:Sh3bp4
|
UTSW |
1 |
89,071,995 (GRCm39) |
missense |
probably damaging |
1.00 |
R5024:Sh3bp4
|
UTSW |
1 |
89,073,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R5040:Sh3bp4
|
UTSW |
1 |
89,071,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R5249:Sh3bp4
|
UTSW |
1 |
89,065,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R5306:Sh3bp4
|
UTSW |
1 |
89,071,997 (GRCm39) |
missense |
probably damaging |
0.99 |
R5319:Sh3bp4
|
UTSW |
1 |
89,073,072 (GRCm39) |
missense |
probably benign |
|
R5908:Sh3bp4
|
UTSW |
1 |
89,073,605 (GRCm39) |
missense |
probably damaging |
0.99 |
R6296:Sh3bp4
|
UTSW |
1 |
89,073,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R6572:Sh3bp4
|
UTSW |
1 |
89,072,643 (GRCm39) |
missense |
possibly damaging |
0.78 |
R6660:Sh3bp4
|
UTSW |
1 |
89,080,888 (GRCm39) |
missense |
possibly damaging |
0.62 |
R6900:Sh3bp4
|
UTSW |
1 |
89,073,489 (GRCm39) |
missense |
probably benign |
0.00 |
R7319:Sh3bp4
|
UTSW |
1 |
89,080,824 (GRCm39) |
splice site |
probably null |
|
R7320:Sh3bp4
|
UTSW |
1 |
89,073,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R7393:Sh3bp4
|
UTSW |
1 |
89,072,170 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7516:Sh3bp4
|
UTSW |
1 |
89,073,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R8402:Sh3bp4
|
UTSW |
1 |
89,073,037 (GRCm39) |
missense |
probably benign |
0.00 |
R8899:Sh3bp4
|
UTSW |
1 |
89,073,297 (GRCm39) |
missense |
probably benign |
0.45 |
R8915:Sh3bp4
|
UTSW |
1 |
89,080,064 (GRCm39) |
missense |
probably damaging |
0.99 |
R8953:Sh3bp4
|
UTSW |
1 |
89,072,159 (GRCm39) |
missense |
probably damaging |
0.97 |
R9137:Sh3bp4
|
UTSW |
1 |
89,072,647 (GRCm39) |
nonsense |
probably null |
|
R9718:Sh3bp4
|
UTSW |
1 |
89,073,472 (GRCm39) |
missense |
probably damaging |
0.99 |
RF016:Sh3bp4
|
UTSW |
1 |
89,072,744 (GRCm39) |
missense |
probably benign |
|
Z1176:Sh3bp4
|
UTSW |
1 |
89,073,450 (GRCm39) |
missense |
probably benign |
0.43 |
|
Posted On |
2015-04-16 |