Incidental Mutation 'R3721:Sh3bp4'
| ID |
258885 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3bp4
|
| Ensembl Gene |
ENSMUSG00000036206 |
| Gene Name |
SH3-domain binding protein 4 |
| Synonyms |
BOG25 |
| MMRRC Submission |
040712-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3721 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
89070415-89155068 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89145328 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 633
(I633V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066279]
|
| AlphaFold |
Q921I6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066279
AA Change: I633V
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000067581
Gene: ENSMUSG00000036206
AA Change: I633V
| 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 |
|
| Meta Mutation Damage Score |
0.0582 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (59/59) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2a |
T |
C |
2: 48,892,138 (GRCm38) |
S228P |
probably damaging |
Het |
| Adamts2 |
C |
T |
11: 50,773,211 (GRCm38) |
|
probably benign |
Het |
| Arhgap9 |
A |
G |
10: 127,328,971 (GRCm38) |
E588G |
possibly damaging |
Het |
| Ash2l |
C |
G |
8: 25,818,625 (GRCm38) |
G453A |
probably damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,705,102 (GRCm38) |
V638A |
probably benign |
Het |
| Ccrl2 |
T |
C |
9: 111,056,364 (GRCm38) |
D22G |
probably benign |
Het |
| Cdc73 |
T |
C |
1: 143,695,453 (GRCm38) |
I83V |
possibly damaging |
Het |
| Ceacam23 |
A |
G |
7: 17,902,738 (GRCm38) |
T247A |
probably benign |
Het |
| Clec2e |
C |
A |
6: 129,094,410 (GRCm38) |
E155* |
probably null |
Het |
| Cyp3a59 |
T |
A |
5: 146,096,597 (GRCm38) |
M181K |
probably damaging |
Het |
| Dars2 |
A |
T |
1: 161,063,308 (GRCm38) |
V111E |
probably benign |
Het |
| Diras2 |
T |
A |
13: 52,508,023 (GRCm38) |
I83F |
probably damaging |
Het |
| Dlg2 |
T |
A |
7: 91,711,800 (GRCm38) |
|
probably null |
Het |
| Dnai1 |
G |
A |
4: 41,602,615 (GRCm38) |
R113H |
probably damaging |
Het |
| Eeig2 |
C |
T |
3: 108,979,767 (GRCm38) |
R305Q |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,273,454 (GRCm38) |
N759S |
probably benign |
Het |
| F11 |
A |
G |
8: 45,248,638 (GRCm38) |
S353P |
probably damaging |
Het |
| Ggnbp1 |
T |
C |
17: 27,029,613 (GRCm38) |
V52A |
probably benign |
Het |
| Gpr171 |
A |
G |
3: 59,097,670 (GRCm38) |
V228A |
possibly damaging |
Het |
| Gsta3 |
T |
C |
1: 21,260,089 (GRCm38) |
M55T |
probably benign |
Het |
| Hectd3 |
T |
A |
4: 116,999,745 (GRCm38) |
N496K |
probably benign |
Het |
| Hp1bp3 |
T |
G |
4: 138,239,608 (GRCm38) |
F367V |
probably damaging |
Het |
| Il18rap |
T |
A |
1: 40,537,088 (GRCm38) |
L253Q |
probably damaging |
Het |
| Irs1 |
C |
T |
1: 82,290,085 (GRCm38) |
G137S |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 87,089,151 (GRCm38) |
M380I |
probably null |
Het |
| Lair1 |
A |
C |
7: 4,010,783 (GRCm38) |
L155R |
probably damaging |
Het |
| Larp7 |
A |
G |
3: 127,546,811 (GRCm38) |
L126P |
probably damaging |
Het |
| Lhx1 |
G |
A |
11: 84,521,828 (GRCm38) |
R89C |
probably damaging |
Het |
| Lypd4 |
C |
A |
7: 24,865,459 (GRCm38) |
A85S |
probably benign |
Het |
| Mei1 |
A |
G |
15: 82,103,204 (GRCm38) |
H399R |
possibly damaging |
Het |
| Myh10 |
G |
T |
11: 68,813,052 (GRCm38) |
R1863L |
probably damaging |
Het |
| Myo9a |
G |
A |
9: 59,868,180 (GRCm38) |
V1025I |
probably benign |
Het |
| Naa25 |
T |
A |
5: 121,431,556 (GRCm38) |
D659E |
probably benign |
Het |
| Nol9 |
A |
G |
4: 152,039,706 (GRCm38) |
S118G |
probably benign |
Het |
| Or4k2 |
C |
T |
14: 50,186,680 (GRCm38) |
C179Y |
probably damaging |
Het |
| Or5p72 |
G |
T |
7: 108,423,119 (GRCm38) |
D183Y |
probably damaging |
Het |
| Pde10a |
T |
A |
17: 8,969,589 (GRCm38) |
I907N |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,585,655 (GRCm38) |
D218G |
probably benign |
Het |
| Poll |
A |
G |
19: 45,553,577 (GRCm38) |
I430T |
probably damaging |
Het |
| Pomgnt1 |
T |
G |
4: 116,153,543 (GRCm38) |
|
probably benign |
Het |
| Rab6b |
T |
C |
9: 103,167,174 (GRCm38) |
|
probably null |
Het |
| Rad1 |
T |
C |
15: 10,488,026 (GRCm38) |
S79P |
probably benign |
Het |
| Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,219,203 (GRCm38) |
|
probably benign |
Het |
| Rcc1 |
T |
C |
4: 132,337,814 (GRCm38) |
K133E |
possibly damaging |
Het |
| Ric8a |
T |
C |
7: 140,861,961 (GRCm38) |
|
probably null |
Het |
| Rnf135 |
G |
T |
11: 80,196,917 (GRCm38) |
A231S |
probably benign |
Het |
| Rps6ka4 |
A |
G |
19: 6,839,277 (GRCm38) |
V146A |
possibly damaging |
Het |
| Slc2a2 |
T |
A |
3: 28,727,152 (GRCm38) |
N446K |
probably damaging |
Het |
| Slc44a1 |
T |
C |
4: 53,491,445 (GRCm38) |
Y61H |
probably damaging |
Het |
| Slc7a1 |
G |
A |
5: 148,335,533 (GRCm38) |
R445* |
probably null |
Het |
| Smc5 |
T |
C |
19: 23,210,492 (GRCm38) |
M911V |
probably benign |
Het |
| Sntb1 |
C |
A |
15: 55,642,818 (GRCm38) |
R453L |
probably benign |
Het |
| Spink4 |
T |
A |
4: 40,929,136 (GRCm38) |
C54S |
probably damaging |
Het |
| Srrm2 |
CTCCTCTTCTTCCTCTTCTTCCTC |
CTCCTCTTCTTCCTC |
17: 23,822,575 (GRCm38) |
|
probably benign |
Het |
| Trpm1 |
T |
G |
7: 64,217,727 (GRCm38) |
|
probably benign |
Het |
| Tufm |
T |
C |
7: 126,490,460 (GRCm38) |
M442T |
probably benign |
Het |
| Ubn1 |
A |
G |
16: 5,073,378 (GRCm38) |
N539S |
possibly damaging |
Het |
|
| Other mutations in Sh3bp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01062:Sh3bp4
|
APN |
1 |
89,143,960 (GRCm38) |
missense |
probably benign |
|
|
IGL01344:Sh3bp4
|
APN |
1 |
89,153,236 (GRCm38) |
missense |
probably benign |
|
|
IGL02025:Sh3bp4
|
APN |
1 |
89,145,286 (GRCm38) |
missense |
probably benign |
0.40 |
|
IGL02035:Sh3bp4
|
APN |
1 |
89,143,690 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02389:Sh3bp4
|
APN |
1 |
89,145,148 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02430:Sh3bp4
|
APN |
1 |
89,153,163 (GRCm38) |
missense |
probably null |
0.00 |
|
IGL02546:Sh3bp4
|
APN |
1 |
89,143,544 (GRCm38) |
splice site |
probably benign |
|
|
IGL03327:Sh3bp4
|
APN |
1 |
89,144,163 (GRCm38) |
nonsense |
probably null |
|
|
I0000:Sh3bp4
|
UTSW |
1 |
89,137,796 (GRCm38) |
missense |
probably benign |
0.01 |
|
PIT4366001:Sh3bp4
|
UTSW |
1 |
89,145,434 (GRCm38) |
missense |
probably benign |
|
|
R0128:Sh3bp4
|
UTSW |
1 |
89,145,314 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R0130:Sh3bp4
|
UTSW |
1 |
89,145,314 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R1370:Sh3bp4
|
UTSW |
1 |
89,143,772 (GRCm38) |
missense |
probably benign |
0.43 |
|
R1500:Sh3bp4
|
UTSW |
1 |
89,145,488 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2269:Sh3bp4
|
UTSW |
1 |
89,145,592 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R3407:Sh3bp4
|
UTSW |
1 |
89,145,047 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R3408:Sh3bp4
|
UTSW |
1 |
89,145,047 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R3615:Sh3bp4
|
UTSW |
1 |
89,137,705 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3616:Sh3bp4
|
UTSW |
1 |
89,137,705 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3983:Sh3bp4
|
UTSW |
1 |
89,145,869 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4631:Sh3bp4
|
UTSW |
1 |
89,144,273 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5024:Sh3bp4
|
UTSW |
1 |
89,145,595 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5040:Sh3bp4
|
UTSW |
1 |
89,144,240 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5249:Sh3bp4
|
UTSW |
1 |
89,137,734 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5306:Sh3bp4
|
UTSW |
1 |
89,144,275 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5319:Sh3bp4
|
UTSW |
1 |
89,145,350 (GRCm38) |
missense |
probably benign |
|
|
R5908:Sh3bp4
|
UTSW |
1 |
89,145,883 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6296:Sh3bp4
|
UTSW |
1 |
89,145,489 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6572:Sh3bp4
|
UTSW |
1 |
89,144,921 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R6660:Sh3bp4
|
UTSW |
1 |
89,153,166 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R6900:Sh3bp4
|
UTSW |
1 |
89,145,767 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7319:Sh3bp4
|
UTSW |
1 |
89,153,102 (GRCm38) |
splice site |
probably null |
|
|
R7320:Sh3bp4
|
UTSW |
1 |
89,145,494 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7393:Sh3bp4
|
UTSW |
1 |
89,144,448 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R7516:Sh3bp4
|
UTSW |
1 |
89,145,646 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8402:Sh3bp4
|
UTSW |
1 |
89,145,315 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8899:Sh3bp4
|
UTSW |
1 |
89,145,575 (GRCm38) |
missense |
probably benign |
0.45 |
|
R8915:Sh3bp4
|
UTSW |
1 |
89,152,342 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8953:Sh3bp4
|
UTSW |
1 |
89,144,437 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9137:Sh3bp4
|
UTSW |
1 |
89,144,925 (GRCm38) |
nonsense |
probably null |
|
|
R9718:Sh3bp4
|
UTSW |
1 |
89,145,750 (GRCm38) |
missense |
probably damaging |
0.99 |
|
RF016:Sh3bp4
|
UTSW |
1 |
89,145,022 (GRCm38) |
missense |
probably benign |
|
|
Z1176:Sh3bp4
|
UTSW |
1 |
89,145,728 (GRCm38) |
missense |
probably benign |
0.43 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTGAGCCGTCTGATCTTCTC -3'
(R):5'- TAGCCGATGTACCACTCCTTG -3'
Sequencing Primer
(F):5'- GATCTTCTCCGTCATCTCCCAGAAC -3'
(R):5'- GTCCACAGCTGTCCCTTGAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation