Incidental Mutation 'IGL01344:Sh3bp4'
| ID |
74999 |
| 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 # |
IGL01344
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
88998137-89082790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89080958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 925
(N925S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066279]
|
| AlphaFold |
Q921I6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066279
AA Change: N925S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000067581
Gene: ENSMUSG00000036206
AA Change: N925S
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930518I15Rik |
A |
G |
2: 156,699,020 (GRCm39) |
|
probably benign |
Het |
| Aak1 |
A |
G |
6: 86,923,139 (GRCm39) |
K237R |
possibly damaging |
Het |
| Antxrl |
A |
C |
14: 33,797,554 (GRCm39) |
M510L |
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,214,588 (GRCm39) |
D417G |
probably benign |
Het |
| C3 |
T |
G |
17: 57,531,880 (GRCm39) |
N250T |
probably benign |
Het |
| Cacna2d1 |
T |
A |
5: 16,575,629 (GRCm39) |
I1073K |
probably benign |
Het |
| Ccin |
A |
T |
4: 43,984,069 (GRCm39) |
N159Y |
probably damaging |
Het |
| Cep76 |
T |
C |
18: 67,756,467 (GRCm39) |
T455A |
possibly damaging |
Het |
| Chaf1a |
T |
A |
17: 56,371,104 (GRCm39) |
V663E |
probably damaging |
Het |
| Chit1 |
T |
C |
1: 134,079,052 (GRCm39) |
F454S |
probably damaging |
Het |
| Cimip2a |
A |
T |
2: 25,110,345 (GRCm39) |
I86F |
possibly damaging |
Het |
| Clasp2 |
A |
G |
9: 113,642,360 (GRCm39) |
|
probably null |
Het |
| Ctcfl |
G |
T |
2: 172,936,527 (GRCm39) |
A615E |
possibly damaging |
Het |
| Edaradd |
T |
C |
13: 12,493,371 (GRCm39) |
D107G |
probably damaging |
Het |
| Efl1 |
T |
C |
7: 82,330,688 (GRCm39) |
|
probably benign |
Het |
| Eps15l1 |
A |
G |
8: 73,136,169 (GRCm39) |
|
probably null |
Het |
| Fahd2a |
T |
C |
2: 127,283,987 (GRCm39) |
K18E |
probably benign |
Het |
| Fbxl20 |
A |
T |
11: 97,990,926 (GRCm39) |
C147* |
probably null |
Het |
| Gsap |
G |
T |
5: 21,447,881 (GRCm39) |
|
probably null |
Het |
| Gtse1 |
A |
T |
15: 85,746,267 (GRCm39) |
|
probably null |
Het |
| Kcp |
A |
T |
6: 29,498,950 (GRCm39) |
|
probably null |
Het |
| Llgl2 |
A |
G |
11: 115,742,019 (GRCm39) |
D687G |
probably benign |
Het |
| Mcpt8 |
T |
A |
14: 56,321,402 (GRCm39) |
I21F |
probably damaging |
Het |
| Met |
C |
A |
6: 17,547,031 (GRCm39) |
S888Y |
probably benign |
Het |
| Mrtfa |
T |
C |
15: 80,900,503 (GRCm39) |
T663A |
probably damaging |
Het |
| Ngf |
A |
G |
3: 102,427,628 (GRCm39) |
T130A |
probably benign |
Het |
| Otud7b |
T |
A |
3: 96,058,297 (GRCm39) |
|
probably benign |
Het |
| Preb |
C |
T |
5: 31,113,388 (GRCm39) |
V349M |
probably damaging |
Het |
| Prmt1 |
G |
T |
7: 44,627,059 (GRCm39) |
|
probably benign |
Het |
| Psg27 |
T |
C |
7: 18,294,342 (GRCm39) |
D355G |
probably damaging |
Het |
| Ptprt |
T |
A |
2: 161,393,737 (GRCm39) |
D1209V |
probably damaging |
Het |
| Rigi |
G |
A |
4: 40,208,883 (GRCm39) |
T698I |
probably damaging |
Het |
| Skint3 |
T |
A |
4: 112,147,519 (GRCm39) |
M414K |
possibly damaging |
Het |
| Skor1 |
A |
T |
9: 63,049,560 (GRCm39) |
S787R |
possibly damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,940,856 (GRCm39) |
I288N |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,790,059 (GRCm39) |
|
probably benign |
Het |
| Tpp2 |
C |
T |
1: 44,022,422 (GRCm39) |
T940I |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,972,739 (GRCm39) |
I278N |
probably damaging |
Het |
| Umodl1 |
G |
A |
17: 31,215,238 (GRCm39) |
V1021I |
probably damaging |
Het |
| Usp24 |
T |
C |
4: 106,236,582 (GRCm39) |
S1059P |
possibly 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 |
|
|
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 |
|
IGL02546:Sh3bp4
|
APN |
1 |
89,071,266 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2013-10-07 |
Incidental Mutation