Incidental Mutation 'R5760:Ubash3b'
ID |
445249 |
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 |
043362-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.218)
|
Stock # |
R5760 (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 G
at 40988719 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Threonine
at position 62
(K62T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114176
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044155]
[ENSMUST00000129906]
[ENSMUST00000136530]
[ENSMUST00000151485]
|
AlphaFold |
Q8BGG7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044155
|
SMART Domains |
Protein: ENSMUSP00000043865 Gene: ENSMUSG00000032020
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 |
noncoding transcript
Transcript: ENSMUST00000124819
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129906
|
SMART Domains |
Protein: ENSMUSP00000134923 Gene: ENSMUSG00000032020
Domain | Start | End | E-Value | Type |
Blast:UBA
|
70 |
92 |
6e-7 |
BLAST |
PDB:2CPW|A
|
70 |
93 |
2e-8 |
PDB |
SCOP:d1ifya_
|
73 |
94 |
8e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136530
AA Change: K62T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000114176 Gene: ENSMUSG00000032020 AA Change: K62T
Domain | Start | End | E-Value | Type |
PDB:2CPW|A
|
15 |
98 |
3e-23 |
PDB |
Blast:UBA
|
26 |
95 |
2e-13 |
BLAST |
SCOP:d1ifya_
|
28 |
97 |
5e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151485
|
SMART Domains |
Protein: ENSMUSP00000116038 Gene: ENSMUSG00000032020
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: 99.5%
- 3x: 98.8%
- 10x: 97.3%
- 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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447A16Rik |
T |
C |
15: 37,439,835 (GRCm39) |
|
probably benign |
Het |
Abl2 |
C |
T |
1: 156,469,427 (GRCm39) |
T793M |
probably benign |
Het |
Accs |
A |
C |
2: 93,676,105 (GRCm39) |
L90R |
probably damaging |
Het |
Ahnak |
A |
T |
19: 8,990,926 (GRCm39) |
D4070V |
probably damaging |
Het |
Apbb2 |
A |
G |
5: 66,520,100 (GRCm39) |
V475A |
probably benign |
Het |
Atp10d |
T |
A |
5: 72,418,280 (GRCm39) |
V602E |
probably benign |
Het |
Cdh23 |
C |
T |
10: 60,242,171 (GRCm39) |
V1088M |
probably damaging |
Het |
Dennd6a |
A |
T |
14: 26,333,195 (GRCm39) |
I144L |
probably damaging |
Het |
Dnajc6 |
G |
A |
4: 101,475,839 (GRCm39) |
A571T |
probably benign |
Het |
Drap1 |
A |
G |
19: 5,474,391 (GRCm39) |
I18T |
probably damaging |
Het |
En2 |
C |
A |
5: 28,371,997 (GRCm39) |
A158D |
probably benign |
Het |
Fbn1 |
C |
T |
2: 125,203,167 (GRCm39) |
G1219R |
probably damaging |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Gm7535 |
C |
T |
17: 18,132,080 (GRCm39) |
|
probably benign |
Het |
Hao2 |
A |
T |
3: 98,787,748 (GRCm39) |
L227* |
probably null |
Het |
Hdlbp |
C |
T |
1: 93,368,499 (GRCm39) |
|
probably benign |
Het |
Hivep3 |
A |
G |
4: 119,952,208 (GRCm39) |
K175E |
possibly damaging |
Het |
Hmcn2 |
G |
A |
2: 31,304,580 (GRCm39) |
A3075T |
possibly damaging |
Het |
Igkv6-15 |
A |
T |
6: 70,383,516 (GRCm39) |
I95N |
probably damaging |
Het |
Itgad |
A |
T |
7: 127,802,537 (GRCm39) |
Q1001L |
probably benign |
Het |
Jaml |
T |
A |
9: 45,009,052 (GRCm39) |
M151K |
probably benign |
Het |
Lix1 |
T |
A |
17: 17,647,499 (GRCm39) |
V55D |
possibly damaging |
Het |
Macf1 |
A |
G |
4: 123,407,677 (GRCm39) |
S179P |
probably damaging |
Het |
Matn2 |
T |
A |
15: 34,355,753 (GRCm39) |
Q33L |
possibly damaging |
Het |
Mcm3 |
CT |
CTT |
1: 20,878,972 (GRCm39) |
|
probably null |
Het |
Mroh5 |
A |
C |
15: 73,693,356 (GRCm39) |
I28S |
probably damaging |
Het |
Naip5 |
T |
G |
13: 100,379,346 (GRCm39) |
K231N |
probably damaging |
Het |
Neb |
A |
C |
2: 52,073,830 (GRCm39) |
Y5683D |
probably damaging |
Het |
Npc1l1 |
A |
T |
11: 6,179,031 (GRCm39) |
H126Q |
probably benign |
Het |
Npm2 |
A |
G |
14: 70,886,935 (GRCm39) |
F110L |
probably damaging |
Het |
Nsd3 |
A |
T |
8: 26,149,772 (GRCm39) |
H319L |
probably damaging |
Het |
Nup205 |
G |
A |
6: 35,224,278 (GRCm39) |
R2039Q |
probably damaging |
Het |
Or10j7 |
C |
A |
1: 173,011,318 (GRCm39) |
A228S |
probably benign |
Het |
Or6b2b |
A |
G |
1: 92,418,922 (GRCm39) |
L185P |
possibly damaging |
Het |
Or7d10 |
A |
C |
9: 19,832,050 (GRCm39) |
T182P |
probably benign |
Het |
Pcdhac2 |
G |
A |
18: 37,279,453 (GRCm39) |
G811E |
probably damaging |
Het |
Pkhd1 |
T |
A |
1: 20,143,778 (GRCm39) |
R3849S |
probably benign |
Het |
Pmfbp1 |
A |
T |
8: 110,247,655 (GRCm39) |
D317V |
probably damaging |
Het |
Sall1 |
T |
C |
8: 89,755,278 (GRCm39) |
N1234D |
possibly damaging |
Het |
Slc12a7 |
T |
A |
13: 73,961,741 (GRCm39) |
V1037D |
probably damaging |
Het |
Slc12a8 |
G |
T |
16: 33,445,155 (GRCm39) |
E404* |
probably null |
Het |
Tchhl1 |
C |
G |
3: 93,378,863 (GRCm39) |
S522R |
probably damaging |
Het |
Tgif1 |
A |
G |
17: 71,151,996 (GRCm39) |
V152A |
probably damaging |
Het |
Tshz3 |
C |
A |
7: 36,470,994 (GRCm39) |
H994Q |
probably damaging |
Het |
Ushbp1 |
G |
T |
8: 71,840,012 (GRCm39) |
D546E |
probably damaging |
Het |
Zfp458 |
A |
C |
13: 67,405,853 (GRCm39) |
C192W |
probably damaging |
Het |
Zfp808 |
A |
T |
13: 62,319,740 (GRCm39) |
H323L |
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 |
|
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 |
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 |
|
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'- AAGGGCACGAGTCTTACTGAC -3'
(R):5'- TTAAACTCTCAACGCTGCAAAG -3'
Sequencing Primer
(F):5'- CTTACTGACAGATCGCAGGTG -3'
(R):5'- GAGCTCCACTCAGTCAATACTATGTG -3'
|
Posted On |
2016-11-21 |