Incidental Mutation 'R1596:Ubash3b'
| ID |
175810 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ubash3b
|
| Ensembl Gene |
ENSMUSG00000032020 |
| Gene Name |
ubiquitin associated and SH3 domain containing, B |
| Synonyms |
Sts-1, 2810457I06Rik, TULA-2 |
| MMRRC Submission |
039633-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R1596 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
40922056-41069358 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40942793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 233
(I233T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044155]
[ENSMUST00000151485]
|
| AlphaFold |
Q8BGG7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044155
AA Change: I355T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000043865
Gene: ENSMUSG00000032020
AA Change: I355T
| Domain | Start | End | E-Value | Type |
|---|
|
UBA
|
26 |
64 |
2.43e-4 |
SMART |
|
low complexity region
|
177 |
186 |
N/A |
INTRINSIC |
|
SH3
|
246 |
307 |
7.29e-10 |
SMART |
|
Pfam:His_Phos_1
|
415 |
598 |
3e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151485
AA Change: I233T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000116038
Gene: ENSMUSG00000032020
AA Change: I233T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
64 |
N/A |
INTRINSIC |
|
SH3
|
124 |
185 |
7.29e-10 |
SMART |
|
Pfam:His_Phos_1
|
252 |
450 |
1.9e-27 |
PFAM |
|
| Meta Mutation Damage Score |
0.0703 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 87.7%
|
| Validation Efficiency |
97% (70/72) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a ubiquitin associated domain at the N-terminus, an SH3 domain, and a C-terminal domain with similarities to the catalytic motif of phosphoglycerate mutase. The encoded protein was found to inhibit endocytosis of epidermal growth factor receptor (EGFR) and platelet-derived growth factor receptor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile, developmentally normal, and do not display any obvious phenotypic abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447A16Rik |
A |
G |
15: 37,426,018 (GRCm39) |
|
probably benign |
Het |
| Abca8a |
T |
A |
11: 109,958,886 (GRCm39) |
Y745F |
possibly damaging |
Het |
| Abl1 |
A |
G |
2: 31,680,350 (GRCm39) |
N316S |
probably damaging |
Het |
| Ackr2 |
T |
C |
9: 121,738,278 (GRCm39) |
F218L |
probably damaging |
Het |
| Adam6b |
T |
A |
12: 113,454,646 (GRCm39) |
Y488N |
probably damaging |
Het |
| Arhgap10 |
A |
G |
8: 78,177,326 (GRCm39) |
I103T |
possibly damaging |
Het |
| Atm |
A |
G |
9: 53,364,678 (GRCm39) |
V2669A |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,126,594 (GRCm39) |
K1117E |
probably damaging |
Het |
| Brinp3 |
T |
C |
1: 146,390,520 (GRCm39) |
V22A |
probably benign |
Het |
| Casp8 |
G |
T |
1: 58,870,833 (GRCm39) |
|
probably benign |
Het |
| Ccdc178 |
T |
A |
18: 22,153,930 (GRCm39) |
K626N |
possibly damaging |
Het |
| Clcn6 |
T |
A |
4: 148,107,836 (GRCm39) |
S193C |
probably damaging |
Het |
| Col11a1 |
C |
T |
3: 113,946,262 (GRCm39) |
|
probably benign |
Het |
| Csn1s2b |
T |
A |
5: 87,966,917 (GRCm39) |
|
probably benign |
Het |
| Cst5 |
T |
C |
2: 149,247,329 (GRCm39) |
V15A |
unknown |
Het |
| Cttnbp2 |
A |
G |
6: 18,408,591 (GRCm39) |
F1010S |
probably damaging |
Het |
| Dlg2 |
T |
C |
7: 92,080,259 (GRCm39) |
V614A |
probably damaging |
Het |
| Dsg1c |
A |
G |
18: 20,415,104 (GRCm39) |
Y667C |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,856,727 (GRCm39) |
|
probably benign |
Het |
| Fam83c |
C |
T |
2: 155,672,982 (GRCm39) |
|
probably null |
Het |
| Fbxw20 |
C |
T |
9: 109,050,368 (GRCm39) |
C419Y |
probably damaging |
Het |
| Fgd2 |
G |
A |
17: 29,595,904 (GRCm39) |
V521I |
probably benign |
Het |
| Frrs1 |
A |
G |
3: 116,676,848 (GRCm39) |
|
probably benign |
Het |
| Gli3 |
C |
A |
13: 15,900,056 (GRCm39) |
Q1148K |
possibly damaging |
Het |
| Hdac5 |
G |
T |
11: 102,095,482 (GRCm39) |
|
probably null |
Het |
| Ice1 |
C |
T |
13: 70,753,014 (GRCm39) |
R1024H |
possibly damaging |
Het |
| Irak3 |
A |
T |
10: 120,018,451 (GRCm39) |
I99N |
probably damaging |
Het |
| Klhl31 |
A |
G |
9: 77,557,356 (GRCm39) |
D24G |
probably damaging |
Het |
| Lrba |
C |
T |
3: 86,257,611 (GRCm39) |
Q1292* |
probably null |
Het |
| Map1a |
C |
T |
2: 121,120,246 (GRCm39) |
A44V |
probably benign |
Het |
| Mbd2 |
T |
A |
18: 70,749,703 (GRCm39) |
M306K |
probably damaging |
Het |
| Mrc1 |
C |
T |
2: 14,253,701 (GRCm39) |
H241Y |
possibly damaging |
Het |
| Mrgprg |
A |
G |
7: 143,318,431 (GRCm39) |
F227S |
possibly damaging |
Het |
| Ncapg2 |
T |
A |
12: 116,382,856 (GRCm39) |
L229H |
probably damaging |
Het |
| Ncf4 |
G |
A |
15: 78,134,637 (GRCm39) |
E30K |
probably damaging |
Het |
| Nlrp4c |
C |
A |
7: 6,069,777 (GRCm39) |
D559E |
probably benign |
Het |
| Nxpe4 |
T |
A |
9: 48,307,855 (GRCm39) |
W320R |
probably damaging |
Het |
| Or10a3n |
T |
A |
7: 108,493,086 (GRCm39) |
H176L |
probably damaging |
Het |
| Or52n4b |
T |
A |
7: 108,144,290 (GRCm39) |
M184K |
possibly damaging |
Het |
| Or6z5 |
T |
C |
7: 6,477,514 (GRCm39) |
L135P |
probably damaging |
Het |
| Pdzrn3 |
A |
G |
6: 101,127,966 (GRCm39) |
V900A |
probably benign |
Het |
| Prcp |
T |
C |
7: 92,567,042 (GRCm39) |
|
probably benign |
Het |
| Prkaa2 |
A |
T |
4: 104,893,526 (GRCm39) |
D474E |
probably damaging |
Het |
| Prl3a1 |
A |
G |
13: 27,443,600 (GRCm39) |
|
probably benign |
Het |
| Ptpra |
T |
A |
2: 130,386,872 (GRCm39) |
Y624N |
probably damaging |
Het |
| Ramp1 |
T |
C |
1: 91,151,022 (GRCm39) |
V129A |
possibly damaging |
Het |
| Reep1 |
G |
T |
6: 71,733,421 (GRCm39) |
|
probably null |
Het |
| Robo3 |
C |
T |
9: 37,335,928 (GRCm39) |
|
probably null |
Het |
| Sapcd2 |
T |
A |
2: 25,266,422 (GRCm39) |
I403N |
probably damaging |
Het |
| Sdk2 |
T |
A |
11: 113,729,435 (GRCm39) |
|
probably benign |
Het |
| Serpinb3a |
T |
C |
1: 106,974,904 (GRCm39) |
M210V |
probably benign |
Het |
| Slc45a3 |
T |
A |
1: 131,909,267 (GRCm39) |
I488N |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,648,867 (GRCm39) |
P1513S |
probably damaging |
Het |
| Trank1 |
T |
A |
9: 111,195,358 (GRCm39) |
H1127Q |
possibly damaging |
Het |
| Trim67 |
T |
C |
8: 125,552,878 (GRCm39) |
V660A |
probably damaging |
Het |
| Unkl |
A |
G |
17: 25,424,707 (GRCm39) |
R245G |
probably null |
Het |
|
| Other mutations in Ubash3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01364:Ubash3b
|
APN |
9 |
40,929,311 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01734:Ubash3b
|
APN |
9 |
40,937,543 (GRCm39) |
splice site |
probably benign |
|
|
IGL02311:Ubash3b
|
APN |
9 |
40,958,333 (GRCm39) |
missense |
probably benign |
|
|
IGL03406:Ubash3b
|
APN |
9 |
40,948,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4618001:Ubash3b
|
UTSW |
9 |
40,927,923 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4687001:Ubash3b
|
UTSW |
9 |
40,934,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0524:Ubash3b
|
UTSW |
9 |
40,927,904 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0666:Ubash3b
|
UTSW |
9 |
40,958,360 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0927:Ubash3b
|
UTSW |
9 |
40,934,853 (GRCm39) |
nonsense |
probably null |
|
|
R1112:Ubash3b
|
UTSW |
9 |
40,939,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1544:Ubash3b
|
UTSW |
9 |
40,927,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1610:Ubash3b
|
UTSW |
9 |
40,954,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2069:Ubash3b
|
UTSW |
9 |
40,954,869 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2507:Ubash3b
|
UTSW |
9 |
41,068,650 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2520:Ubash3b
|
UTSW |
9 |
40,926,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3899:Ubash3b
|
UTSW |
9 |
40,942,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3900:Ubash3b
|
UTSW |
9 |
40,942,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4715:Ubash3b
|
UTSW |
9 |
40,927,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4876:Ubash3b
|
UTSW |
9 |
40,929,405 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5023:Ubash3b
|
UTSW |
9 |
40,948,755 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5034:Ubash3b
|
UTSW |
9 |
40,941,036 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5057:Ubash3b
|
UTSW |
9 |
40,948,755 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5396:Ubash3b
|
UTSW |
9 |
40,954,769 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5448:Ubash3b
|
UTSW |
9 |
40,948,731 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5760:Ubash3b
|
UTSW |
9 |
40,988,719 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6178:Ubash3b
|
UTSW |
9 |
40,926,212 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6392:Ubash3b
|
UTSW |
9 |
40,926,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8115:Ubash3b
|
UTSW |
9 |
40,937,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8406:Ubash3b
|
UTSW |
9 |
40,940,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8411:Ubash3b
|
UTSW |
9 |
40,954,781 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8678:Ubash3b
|
UTSW |
9 |
40,942,785 (GRCm39) |
missense |
probably benign |
|
|
R9280:Ubash3b
|
UTSW |
9 |
41,072,877 (GRCm39) |
missense |
unknown |
|
|
R9559:Ubash3b
|
UTSW |
9 |
40,954,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9775:Ubash3b
|
UTSW |
9 |
40,926,214 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGAGAATGGTCCTCAAAGCATCC -3'
(R):5'- TGCGGCATGAGCAACTGATGAC -3'
Sequencing Primer
(F):5'- tgggaggcagagacagaag -3'
(R):5'- TGAGCAACTGATGACTCCTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation