Incidental Mutation 'R9775:Ubash3b'
| ID |
733642 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.218)
|
| Stock # |
R9775 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
40922056-41069358 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 40926214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 633
(E633A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043865
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044155]
[ENSMUST00000151485]
|
| AlphaFold |
Q8BGG7 |
| PDB Structure |
Crystal Structure of the PGM domain of the Suppressor of T-Cell receptor (Sts-1) [X-RAY DIFFRACTION]
Crystal structure of mouse Sts-1 PGM domain in complex with phosphate [X-RAY DIFFRACTION]
The 1.35 A Structure of the Phosphatase Domain of the Suppressor of T Cell Receptor Signalling Protein in Complex with Sulphate [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044155
AA Change: E633A
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000043865
Gene: ENSMUSG00000032020
AA Change: E633A
| 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 |
possibly damaging
Transcript: ENSMUST00000151485
AA Change: E511A
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000116038
Gene: ENSMUSG00000032020
AA Change: E511A
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.6%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
T |
G |
5: 113,861,765 (GRCm39) |
Q35P |
unknown |
Het |
| Angptl2 |
G |
A |
2: 33,118,230 (GRCm39) |
M1I |
probably null |
Het |
| Bptf |
T |
C |
11: 106,934,502 (GRCm39) |
E223G |
probably benign |
Het |
| C2cd3 |
T |
A |
7: 100,076,458 (GRCm39) |
I805N |
|
Het |
| Cep152 |
G |
A |
2: 125,423,660 (GRCm39) |
Q914* |
probably null |
Het |
| Clasp2 |
A |
G |
9: 113,725,740 (GRCm39) |
T794A |
probably benign |
Het |
| Cntnap2 |
A |
G |
6: 47,026,261 (GRCm39) |
Y970C |
probably damaging |
Het |
| Ddx11 |
G |
T |
17: 66,445,157 (GRCm39) |
V360L |
probably damaging |
Het |
| Fer1l6 |
G |
A |
15: 58,497,098 (GRCm39) |
V1223I |
probably benign |
Het |
| Fez2 |
A |
T |
17: 78,708,183 (GRCm39) |
I255N |
probably damaging |
Het |
| Gata3 |
A |
G |
2: 9,863,197 (GRCm39) |
V439A |
possibly damaging |
Het |
| Il23a |
G |
C |
10: 128,132,829 (GRCm39) |
R143G |
probably benign |
Het |
| Kcnj9 |
T |
A |
1: 172,153,741 (GRCm39) |
I128F |
probably damaging |
Het |
| Klhdc2 |
A |
G |
12: 69,350,393 (GRCm39) |
D146G |
probably damaging |
Het |
| Klra6 |
T |
A |
6: 129,999,639 (GRCm39) |
R110W |
probably damaging |
Het |
| Ldha |
A |
T |
7: 46,491,047 (GRCm39) |
|
probably benign |
Het |
| Lingo2 |
C |
A |
4: 35,708,781 (GRCm39) |
A400S |
probably benign |
Het |
| Lrrd1 |
A |
T |
5: 3,899,897 (GRCm39) |
R67S |
probably benign |
Het |
| Mapk6 |
C |
T |
9: 75,295,668 (GRCm39) |
C610Y |
possibly damaging |
Het |
| Mia3 |
G |
A |
1: 183,109,125 (GRCm39) |
R656* |
probably null |
Het |
| Myoz2 |
T |
C |
3: 122,807,399 (GRCm39) |
E137G |
probably damaging |
Het |
| Nemp2 |
T |
A |
1: 52,680,064 (GRCm39) |
I96N |
probably damaging |
Het |
| Npy1r |
A |
G |
8: 67,157,742 (GRCm39) |
M351V |
possibly damaging |
Het |
| Nsg2 |
G |
A |
11: 32,005,029 (GRCm39) |
S77N |
possibly damaging |
Het |
| Or10ag53 |
A |
G |
2: 87,082,568 (GRCm39) |
M96V |
probably damaging |
Het |
| Or5ac17 |
T |
A |
16: 59,036,069 (GRCm39) |
R302S |
possibly damaging |
Het |
| Or6c5c |
T |
C |
10: 129,298,677 (GRCm39) |
I44T |
probably benign |
Het |
| Osbpl9 |
G |
A |
4: 109,013,747 (GRCm39) |
|
probably benign |
Het |
| Pcolce2 |
G |
A |
9: 95,520,797 (GRCm39) |
C58Y |
probably damaging |
Het |
| Piezo1 |
A |
G |
8: 123,208,927 (GRCm39) |
F2480L |
probably damaging |
Het |
| Pip5k1c |
T |
A |
10: 81,147,853 (GRCm39) |
D419E |
probably damaging |
Het |
| Plppr1 |
A |
T |
4: 49,323,435 (GRCm39) |
T242S |
probably benign |
Het |
| Ppp1r13b |
A |
C |
12: 111,803,457 (GRCm39) |
S254A |
possibly damaging |
Het |
| Pramel17 |
A |
G |
4: 101,694,244 (GRCm39) |
M213T |
probably benign |
Het |
| Ripk3 |
A |
G |
14: 56,023,252 (GRCm39) |
L151S |
unknown |
Het |
| Scmh1 |
A |
T |
4: 120,340,820 (GRCm39) |
M169L |
probably benign |
Het |
| Serpinb9d |
A |
T |
13: 33,382,007 (GRCm39) |
R159W |
probably damaging |
Het |
| Slc26a9 |
A |
G |
1: 131,690,970 (GRCm39) |
R583G |
possibly damaging |
Het |
| Smim8 |
T |
C |
4: 34,769,068 (GRCm39) |
E72G |
probably damaging |
Het |
| Sned1 |
A |
G |
1: 93,199,604 (GRCm39) |
N511S |
probably damaging |
Het |
| Srprb |
A |
C |
9: 103,078,490 (GRCm39) |
V80G |
probably benign |
Het |
| Ssx2ip |
G |
A |
3: 146,136,808 (GRCm39) |
S352N |
probably benign |
Het |
| Tbccd1 |
A |
G |
16: 22,652,666 (GRCm39) |
S152P |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,555,761 (GRCm39) |
I2822T |
possibly damaging |
Het |
| Tff1 |
A |
G |
17: 31,383,972 (GRCm39) |
V8A |
probably benign |
Het |
| Tmem132b |
T |
A |
5: 125,864,566 (GRCm39) |
S891T |
probably benign |
Het |
| Tmem200c |
T |
A |
17: 69,149,118 (GRCm39) |
V567D |
probably damaging |
Het |
| Trim3 |
G |
A |
7: 105,260,377 (GRCm39) |
T708M |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,544,927 (GRCm39) |
N32725S |
possibly damaging |
Het |
| Usp4 |
A |
G |
9: 108,239,780 (GRCm39) |
R170G |
probably damaging |
Het |
| Wdr33 |
T |
A |
18: 32,037,406 (GRCm39) |
L1222Q |
unknown |
Het |
| Zfhx2 |
A |
G |
14: 55,304,562 (GRCm39) |
S1141P |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTTCCCCTCTGAATCACGAC -3'
(R):5'- AACACCTGAGTACCTGTGTCAG -3'
Sequencing Primer
(F):5'- GAATCACGACTTTCTCTCACAATC -3'
(R):5'- ACCTGAGTACCTGTGTCAGTACAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation