Incidental Mutation 'R1112:Ubash3b'
ID |
96845 |
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 |
039185-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.218)
|
Stock # |
R1112 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
40922056-41069358 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 40939412 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 287
(N287D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116038
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044155]
[ENSMUST00000151485]
|
AlphaFold |
Q8BGG7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044155
AA Change: N409D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043865 Gene: ENSMUSG00000032020 AA Change: N409D
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 damaging
Transcript: ENSMUST00000151485
AA Change: N287D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116038 Gene: ENSMUSG00000032020 AA Change: N287D
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
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 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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ak7 |
A |
G |
12: 105,679,831 (GRCm39) |
N122D |
probably benign |
Het |
Arb2a |
A |
G |
13: 77,910,005 (GRCm39) |
Y40C |
probably damaging |
Het |
Atrn |
A |
G |
2: 130,841,081 (GRCm39) |
D1161G |
probably benign |
Het |
Bscl2 |
G |
C |
19: 8,817,098 (GRCm39) |
G9R |
possibly damaging |
Het |
Clstn2 |
T |
C |
9: 97,340,281 (GRCm39) |
N697S |
possibly damaging |
Het |
Ctnnd2 |
T |
C |
15: 30,922,026 (GRCm39) |
V884A |
probably damaging |
Het |
Dusp10 |
A |
T |
1: 183,769,097 (GRCm39) |
Q21L |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Foxn1 |
A |
G |
11: 78,261,856 (GRCm39) |
F171S |
probably benign |
Het |
Fxr2 |
A |
G |
11: 69,543,074 (GRCm39) |
S624G |
probably damaging |
Het |
Gorasp2 |
C |
A |
2: 70,521,158 (GRCm39) |
P376Q |
probably benign |
Het |
Gpr33 |
A |
G |
12: 52,070,155 (GRCm39) |
S295P |
probably damaging |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Hap1 |
C |
T |
11: 100,245,143 (GRCm39) |
V23M |
probably damaging |
Het |
Hsd3b5 |
C |
T |
3: 98,537,393 (GRCm39) |
R41Q |
probably benign |
Het |
Kif1c |
T |
G |
11: 70,615,641 (GRCm39) |
|
probably null |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Madd |
A |
G |
2: 90,973,944 (GRCm39) |
C1447R |
probably damaging |
Het |
Myef2 |
A |
C |
2: 124,939,506 (GRCm39) |
M426R |
probably damaging |
Het |
Myh13 |
A |
T |
11: 67,245,576 (GRCm39) |
D1072V |
probably damaging |
Het |
Or1e34 |
A |
C |
11: 73,779,060 (GRCm39) |
L46R |
probably damaging |
Het |
Or51a5 |
C |
T |
7: 102,771,611 (GRCm39) |
D123N |
probably damaging |
Het |
Orc4 |
A |
T |
2: 48,823,584 (GRCm39) |
N90K |
probably damaging |
Het |
Padi4 |
C |
T |
4: 140,485,427 (GRCm39) |
S246N |
probably benign |
Het |
Pcdhb22 |
A |
T |
18: 37,652,821 (GRCm39) |
T430S |
possibly damaging |
Het |
Prkd3 |
T |
C |
17: 79,273,837 (GRCm39) |
D473G |
probably damaging |
Het |
Scn4a |
T |
C |
11: 106,211,292 (GRCm39) |
Y1575C |
probably damaging |
Het |
Serpinb6d |
A |
G |
13: 33,853,118 (GRCm39) |
Y170C |
probably damaging |
Het |
Slc12a2 |
A |
T |
18: 58,070,824 (GRCm39) |
I1059L |
probably benign |
Het |
Slc36a4 |
T |
A |
9: 15,634,811 (GRCm39) |
F118I |
possibly damaging |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Srpra |
A |
G |
9: 35,126,255 (GRCm39) |
T483A |
probably benign |
Het |
Sycp2 |
A |
T |
2: 177,994,329 (GRCm39) |
D1198E |
probably benign |
Het |
Uggt1 |
T |
C |
1: 36,212,627 (GRCm39) |
D905G |
possibly damaging |
Het |
Zfp692 |
T |
C |
11: 58,202,388 (GRCm39) |
L381P |
probably damaging |
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 |
|
R1544:Ubash3b
|
UTSW |
9 |
40,927,901 (GRCm39) |
missense |
probably damaging |
1.00 |
R1596:Ubash3b
|
UTSW |
9 |
40,942,793 (GRCm39) |
missense |
probably benign |
|
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'- AGAGTACAAGGCATGGTTTCTGCAC -3'
(R):5'- AGTATTCCCCACTGCCCTCAGATG -3'
Sequencing Primer
(F):5'- accctgtctccaaccaaac -3'
(R):5'- CCCTCAGATGGTTTGATTAGTGTC -3'
|
Posted On |
2014-01-05 |