Incidental Mutation 'R6660:Sh3bp4'
| ID |
526789 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3bp4
|
| Ensembl Gene |
ENSMUSG00000036206 |
| Gene Name |
SH3-domain binding protein 4 |
| Synonyms |
BOG25 |
| MMRRC Submission |
044780-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6660 (G1)
|
| Quality Score |
183.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
88998137-89082790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89080888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 902
(S902G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066279]
|
| AlphaFold |
Q921I6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066279
AA Change: S902G
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000067581
Gene: ENSMUSG00000036206
AA Change: S902G
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.5%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actg1 |
A |
T |
11: 120,237,581 (GRCm39) |
I289N |
probably damaging |
Het |
| Atg5 |
A |
G |
10: 44,170,651 (GRCm39) |
N99S |
probably benign |
Het |
| Ccdc88a |
A |
G |
11: 29,432,663 (GRCm39) |
Q1223R |
probably benign |
Het |
| Cdc42 |
T |
C |
4: 137,056,145 (GRCm39) |
D122G |
probably benign |
Het |
| Cpxm1 |
A |
G |
2: 130,238,069 (GRCm39) |
S127P |
probably damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,140,634 (GRCm39) |
C730R |
possibly damaging |
Het |
| Ddx60 |
T |
A |
8: 62,409,273 (GRCm39) |
H436Q |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,991,014 (GRCm39) |
Y1236C |
probably benign |
Het |
| Ep400 |
G |
A |
5: 110,867,313 (GRCm39) |
R1000* |
probably null |
Het |
| Ergic3 |
A |
G |
2: 155,859,754 (GRCm39) |
I227V |
probably damaging |
Het |
| Fam227b |
G |
T |
2: 125,986,227 (GRCm39) |
P13Q |
probably damaging |
Het |
| Gal |
A |
G |
19: 3,460,108 (GRCm39) |
L121P |
possibly damaging |
Het |
| Garin2 |
T |
C |
12: 78,762,131 (GRCm39) |
V265A |
possibly damaging |
Het |
| Ifi207 |
T |
C |
1: 173,556,972 (GRCm39) |
T589A |
probably benign |
Het |
| Intu |
T |
C |
3: 40,586,100 (GRCm39) |
V27A |
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,111,495 (GRCm39) |
I2249L |
probably benign |
Het |
| Pdc |
T |
C |
1: 150,209,086 (GRCm39) |
Y190H |
probably damaging |
Het |
| Pmm2 |
T |
C |
16: 8,473,506 (GRCm39) |
L240P |
probably damaging |
Het |
| Polr1a |
T |
C |
6: 71,944,358 (GRCm39) |
V1275A |
probably damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,701,512 (GRCm39) |
N314I |
possibly damaging |
Het |
| Rpe65 |
A |
T |
3: 159,320,345 (GRCm39) |
N301Y |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,737,770 (GRCm39) |
|
probably null |
Het |
| Slc44a4 |
A |
T |
17: 35,149,201 (GRCm39) |
R705W |
probably damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,080,747 (GRCm39) |
I325V |
possibly damaging |
Het |
| Spns1 |
A |
G |
7: 125,974,237 (GRCm39) |
|
probably null |
Het |
| Syt6 |
T |
G |
3: 103,532,960 (GRCm39) |
L363R |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,544,759 (GRCm39) |
V32781A |
probably benign |
Het |
| Ube2l6 |
A |
G |
2: 84,636,852 (GRCm39) |
T99A |
probably damaging |
Het |
| Unc13b |
A |
T |
4: 43,177,412 (GRCm39) |
|
probably benign |
Het |
| Vmn1r189 |
A |
T |
13: 22,286,066 (GRCm39) |
L257H |
possibly damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfpm2 |
T |
C |
15: 40,518,981 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- TCTCATGACTCGGACACAGG -3'
(R):5'- AAAGTCATCATGGTCCGCG -3'
Sequencing Primer
(F):5'- TAGGCTAGGTTGCACTAAGGGC -3'
(R):5'- CGGGACTGAAGGCAGCTG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation