Incidental Mutation 'R3407:Sh3bp4'
| ID |
258294 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3bp4
|
| Ensembl Gene |
ENSMUSG00000036206 |
| Gene Name |
SH3-domain binding protein 4 |
| Synonyms |
BOG25 |
| MMRRC Submission |
040625-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3407 (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: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.3%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg4 |
A |
T |
X: 56,013,487 (GRCm39) |
I2838F |
probably damaging |
Het |
| Agbl2 |
G |
A |
2: 90,621,962 (GRCm39) |
V150I |
probably damaging |
Het |
| Ambra1 |
T |
C |
2: 91,740,652 (GRCm39) |
S924P |
probably damaging |
Het |
| Arfgap3 |
T |
C |
15: 83,206,808 (GRCm39) |
D260G |
probably benign |
Het |
| Bag3 |
AAAGG |
AAAGGAAGG |
7: 128,147,493 (GRCm39) |
|
probably null |
Het |
| Bag3 |
TAAAG |
TAAAGAAAG |
7: 128,147,492 (GRCm39) |
|
probably null |
Het |
| Cacnb3 |
T |
C |
15: 98,539,068 (GRCm39) |
V167A |
probably benign |
Het |
| Carm1 |
C |
T |
9: 21,497,478 (GRCm39) |
R347W |
probably damaging |
Het |
| Ccdc30 |
A |
T |
4: 119,181,778 (GRCm39) |
F577I |
possibly damaging |
Het |
| Ces3a |
T |
A |
8: 105,777,199 (GRCm39) |
V174E |
probably damaging |
Het |
| Cobl |
T |
C |
11: 12,325,830 (GRCm39) |
Y215C |
probably damaging |
Het |
| Cybrd1 |
A |
T |
2: 70,948,470 (GRCm39) |
M3L |
probably damaging |
Het |
| Dis3 |
A |
G |
14: 99,336,212 (GRCm39) |
V98A |
probably benign |
Het |
| Dsg1c |
G |
A |
18: 20,415,115 (GRCm39) |
|
probably null |
Het |
| Eif4a1 |
A |
T |
11: 69,561,089 (GRCm39) |
V72E |
probably damaging |
Het |
| Fmn1 |
A |
T |
2: 113,195,400 (GRCm39) |
I367F |
unknown |
Het |
| Fnbp1l |
A |
C |
3: 122,345,799 (GRCm39) |
W229G |
probably damaging |
Het |
| Inka1 |
C |
T |
9: 107,862,253 (GRCm39) |
R23Q |
probably damaging |
Het |
| Ints6 |
A |
T |
14: 62,934,386 (GRCm39) |
I707K |
probably benign |
Het |
| Ipo8 |
T |
C |
6: 148,723,207 (GRCm39) |
D70G |
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,927,900 (GRCm39) |
L1014P |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,348,208 (GRCm39) |
L677P |
probably damaging |
Het |
| Mbd1 |
A |
G |
18: 74,410,438 (GRCm39) |
K414E |
possibly damaging |
Het |
| Mfsd1 |
T |
A |
3: 67,504,046 (GRCm39) |
M346K |
possibly damaging |
Het |
| Mthfr |
T |
C |
4: 148,139,518 (GRCm39) |
I66T |
probably damaging |
Het |
| Myh10 |
T |
G |
11: 68,681,037 (GRCm39) |
L989R |
possibly damaging |
Het |
| Ncan |
G |
A |
8: 70,564,801 (GRCm39) |
T271I |
probably damaging |
Het |
| Or10ag53 |
A |
C |
2: 87,083,243 (GRCm39) |
T321P |
probably benign |
Het |
| Or9s23 |
A |
G |
1: 92,501,675 (GRCm39) |
T261A |
probably damaging |
Het |
| Pate2 |
C |
T |
9: 35,582,262 (GRCm39) |
T80I |
probably damaging |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,442 (GRCm39) |
T225A |
possibly damaging |
Het |
| Pde4dip |
C |
A |
3: 97,661,784 (GRCm39) |
L640F |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,606,768 (GRCm39) |
|
probably benign |
Het |
| Pus3 |
C |
T |
9: 35,478,021 (GRCm39) |
R418C |
probably damaging |
Het |
| Sall2 |
G |
T |
14: 52,565,561 (GRCm39) |
N24K |
probably benign |
Het |
| Smco3 |
A |
G |
6: 136,808,425 (GRCm39) |
S150P |
probably benign |
Het |
| Spag17 |
G |
T |
3: 99,992,615 (GRCm39) |
A1704S |
probably benign |
Het |
| Tecta |
A |
T |
9: 42,249,150 (GRCm39) |
I1904N |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,536,281 (GRCm39) |
K33280* |
probably null |
Het |
| Uggt2 |
T |
C |
14: 119,328,682 (GRCm39) |
D90G |
probably benign |
Het |
| Vmn1r21 |
C |
T |
6: 57,820,877 (GRCm39) |
G189D |
probably damaging |
Het |
| Zbtb10 |
A |
G |
3: 9,329,926 (GRCm39) |
N428S |
probably damaging |
Het |
| Zfp407 |
G |
A |
18: 84,576,997 (GRCm39) |
A1372V |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTCTCTATGGTCCCAAACAC -3'
(R):5'- GCGGAGTCTGGACACAAAAC -3'
Sequencing Primer
(F):5'- CATCCATCCATCCTTCAAGACAGTAG -3'
(R):5'- TCTGGACACAAAACTGCGTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation