Incidental Mutation 'R3408:Sh3bp4'
ID |
258350 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3bp4
|
Ensembl Gene |
ENSMUSG00000036206 |
Gene Name |
SH3-domain binding protein 4 |
Synonyms |
BOG25 |
MMRRC Submission |
040626-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3408 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
88998137-89082790 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 89072769 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 539
(C539F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067581
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066279]
|
AlphaFold |
Q921I6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066279
AA Change: C539F
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000067581 Gene: ENSMUSG00000036206 AA Change: C539F
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 |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 89.1%
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6430550D23Rik |
C |
T |
2: 155,845,840 (GRCm39) |
V6I |
probably benign |
Het |
Adam17 |
T |
A |
12: 21,379,119 (GRCm39) |
K643N |
probably damaging |
Het |
Adgrg4 |
A |
T |
X: 56,013,487 (GRCm39) |
I2838F |
probably damaging |
Het |
Aox1 |
G |
A |
1: 58,382,827 (GRCm39) |
V1036I |
probably benign |
Het |
Bag3 |
AAAGG |
AAAGGAAGG |
7: 128,147,493 (GRCm39) |
|
probably null |
Het |
Cacnb3 |
T |
C |
15: 98,539,068 (GRCm39) |
V167A |
probably benign |
Het |
Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
E2f7 |
C |
T |
10: 110,620,578 (GRCm39) |
T865M |
possibly damaging |
Het |
Eef2 |
GCCC |
GCCCC |
10: 81,014,601 (GRCm39) |
|
probably null |
Het |
Ephb3 |
T |
A |
16: 21,038,254 (GRCm39) |
Y341N |
probably damaging |
Het |
Frem1 |
A |
T |
4: 82,930,223 (GRCm39) |
V241E |
probably damaging |
Het |
Gpi1 |
A |
G |
7: 33,902,104 (GRCm39) |
V500A |
probably damaging |
Het |
Ilk |
A |
T |
7: 105,390,181 (GRCm39) |
M155L |
probably benign |
Het |
Ipo8 |
T |
C |
6: 148,723,207 (GRCm39) |
D70G |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,275,574 (GRCm39) |
Q6283R |
probably damaging |
Het |
Mfsd1 |
T |
A |
3: 67,504,046 (GRCm39) |
M346K |
possibly damaging |
Het |
Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
Myo7a |
A |
T |
7: 97,730,294 (GRCm39) |
F758Y |
probably benign |
Het |
Nalcn |
T |
A |
14: 123,834,029 (GRCm39) |
S49C |
probably null |
Het |
Ncan |
G |
A |
8: 70,564,801 (GRCm39) |
T271I |
probably damaging |
Het |
Nr5a2 |
C |
T |
1: 136,868,236 (GRCm39) |
A299T |
probably benign |
Het |
Or10ag60 |
A |
T |
2: 87,438,220 (GRCm39) |
I163L |
probably benign |
Het |
Or4g16 |
A |
T |
2: 111,136,850 (GRCm39) |
Q100L |
probably damaging |
Het |
Or51q1c |
G |
T |
7: 103,652,550 (GRCm39) |
E23* |
probably null |
Het |
Or9s23 |
A |
G |
1: 92,501,675 (GRCm39) |
T261A |
probably damaging |
Het |
Piwil4 |
T |
C |
9: 14,637,259 (GRCm39) |
T352A |
probably damaging |
Het |
Plch1 |
A |
G |
3: 63,606,768 (GRCm39) |
|
probably benign |
Het |
Plekhg5 |
A |
G |
4: 152,192,749 (GRCm39) |
T559A |
probably damaging |
Het |
Rfx2 |
G |
T |
17: 57,110,526 (GRCm39) |
D153E |
probably benign |
Het |
Slco1b2 |
A |
T |
6: 141,621,982 (GRCm39) |
H479L |
probably benign |
Het |
Spmip9 |
C |
T |
6: 70,892,690 (GRCm39) |
S19N |
possibly damaging |
Het |
Tmem150b |
G |
T |
7: 4,727,339 (GRCm39) |
F55L |
probably damaging |
Het |
Vmn1r60 |
A |
T |
7: 5,548,148 (GRCm39) |
|
probably null |
Het |
Vmn2r80 |
C |
T |
10: 79,004,227 (GRCm39) |
L147F |
possibly damaging |
Het |
Vps50 |
A |
T |
6: 3,600,212 (GRCm39) |
K890N |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGTCTCTATGGTCCCAAACAC -3'
(R):5'- CGGAGTCTGGACACAAAACTG -3'
Sequencing Primer
(F):5'- CATCCATCCATCCTTCAAGACAGTAG -3'
(R):5'- CAAAACTGCGTGAGGATCGTGTC -3'
|
Posted On |
2015-01-23 |