Incidental Mutation 'IGL02035:Sh3bp4'
ID |
184495 |
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 # |
IGL02035
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
88998137-89082790 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 89071412 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 87
(T87A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067581
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066279]
|
AlphaFold |
Q921I6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066279
AA Change: T87A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000067581 Gene: ENSMUSG00000036206 AA Change: T87A
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
A |
T |
1: 179,593,579 (GRCm39) |
I1135N |
probably benign |
Het |
Atl1 |
A |
G |
12: 70,007,318 (GRCm39) |
|
probably benign |
Het |
Atr |
A |
G |
9: 95,748,735 (GRCm39) |
N427D |
probably benign |
Het |
Chd2 |
T |
C |
7: 73,091,375 (GRCm39) |
|
probably null |
Het |
Cnot4 |
A |
T |
6: 35,047,186 (GRCm39) |
V142D |
probably damaging |
Het |
Ctnnd1 |
A |
T |
2: 84,450,425 (GRCm39) |
V265E |
probably damaging |
Het |
Ddx27 |
G |
T |
2: 166,871,432 (GRCm39) |
V510F |
probably benign |
Het |
Elac2 |
A |
G |
11: 64,892,661 (GRCm39) |
S822G |
probably benign |
Het |
Fat3 |
A |
T |
9: 16,289,266 (GRCm39) |
F86I |
probably benign |
Het |
Fbn1 |
T |
A |
2: 125,177,282 (GRCm39) |
|
probably null |
Het |
Fgd4 |
C |
T |
16: 16,308,280 (GRCm39) |
|
probably benign |
Het |
Furin |
T |
C |
7: 80,040,735 (GRCm39) |
E701G |
probably benign |
Het |
Fzd2 |
A |
G |
11: 102,497,270 (GRCm39) |
*571W |
probably null |
Het |
Gm9 |
A |
T |
X: 36,474,544 (GRCm39) |
H3Q |
probably benign |
Het |
Jak2 |
T |
C |
19: 29,263,808 (GRCm39) |
V441A |
probably benign |
Het |
Kcnj3 |
T |
A |
2: 55,327,590 (GRCm39) |
N126K |
probably damaging |
Het |
Lca5 |
T |
C |
9: 83,305,365 (GRCm39) |
E147G |
probably damaging |
Het |
Magt1 |
G |
T |
X: 105,027,382 (GRCm39) |
|
probably null |
Het |
Nkx6-2 |
A |
T |
7: 139,161,601 (GRCm39) |
W195R |
probably damaging |
Het |
Nt5c1a |
A |
T |
4: 123,107,895 (GRCm39) |
S193C |
possibly damaging |
Het |
Or6c216 |
A |
G |
10: 129,678,659 (GRCm39) |
L84P |
possibly damaging |
Het |
Os9 |
G |
A |
10: 126,932,160 (GRCm39) |
P604S |
possibly damaging |
Het |
Pecam1 |
C |
T |
11: 106,586,685 (GRCm39) |
A277T |
probably benign |
Het |
Polr1c |
A |
G |
17: 46,557,085 (GRCm39) |
V66A |
possibly damaging |
Het |
Proser1 |
T |
C |
3: 53,386,251 (GRCm39) |
V711A |
probably benign |
Het |
Prr35 |
G |
T |
17: 26,166,136 (GRCm39) |
H384N |
probably benign |
Het |
Sbp |
A |
G |
17: 24,161,586 (GRCm39) |
N19S |
possibly damaging |
Het |
Vmn1r59 |
A |
T |
7: 5,457,208 (GRCm39) |
I184N |
possibly damaging |
Het |
Zcchc14 |
T |
C |
8: 122,331,354 (GRCm39) |
|
probably benign |
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 |
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 |
2014-05-07 |