Incidental Mutation 'R9559:Ubash3b'
| ID |
720918 |
| 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 # |
R9559 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
40922056-41069358 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 40954926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 195
(P195S)
|
| 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 |
probably damaging
Transcript: ENSMUST00000044155
AA Change: P195S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043865
Gene: ENSMUSG00000032020
AA Change: P195S
| 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: P73S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116038
Gene: ENSMUSG00000032020
AA Change: P73S
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
G |
A |
7: 120,021,019 (GRCm39) |
|
probably null |
Het |
| Ahnak2 |
C |
T |
12: 112,749,782 (GRCm39) |
|
probably null |
Het |
| Arhgef37 |
A |
T |
18: 61,640,267 (GRCm39) |
|
probably null |
Het |
| Asb14 |
T |
C |
14: 26,637,052 (GRCm39) |
V598A |
possibly damaging |
Het |
| Baz1b |
T |
A |
5: 135,216,532 (GRCm39) |
F10Y |
probably benign |
Het |
| Bbc3 |
T |
C |
7: 16,047,660 (GRCm39) |
V128A |
probably benign |
Het |
| C130073F10Rik |
T |
A |
4: 101,747,946 (GRCm39) |
Y76F |
possibly damaging |
Het |
| Cdc42bpa |
G |
A |
1: 179,939,459 (GRCm39) |
|
probably null |
Het |
| Cfh |
G |
T |
1: 140,030,275 (GRCm39) |
P884Q |
probably benign |
Het |
| Cltc |
T |
C |
11: 86,613,086 (GRCm39) |
Y479C |
probably damaging |
Het |
| Col18a1 |
C |
T |
10: 76,913,630 (GRCm39) |
G477E |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,786,360 (GRCm39) |
N530S |
unknown |
Het |
| Csmd2 |
G |
T |
4: 128,438,561 (GRCm39) |
G3047C |
|
Het |
| Cyb5r3 |
C |
A |
15: 83,043,123 (GRCm39) |
E190* |
probably null |
Het |
| Dnah3 |
A |
T |
7: 119,650,951 (GRCm39) |
V983D |
probably benign |
Het |
| Fcer1a |
T |
G |
1: 173,052,884 (GRCm39) |
Y104S |
possibly damaging |
Het |
| Fer1l6 |
A |
G |
15: 58,429,759 (GRCm39) |
T169A |
possibly damaging |
Het |
| Gimap9 |
A |
T |
6: 48,655,134 (GRCm39) |
K240N |
probably benign |
Het |
| Gmeb1 |
A |
C |
4: 131,953,140 (GRCm39) |
V542G |
probably benign |
Het |
| Grb10 |
C |
A |
11: 11,895,535 (GRCm39) |
R318L |
probably damaging |
Het |
| Gucy1b1 |
T |
A |
3: 81,947,054 (GRCm39) |
D385V |
possibly damaging |
Het |
| Hdgfl1 |
C |
T |
13: 26,953,239 (GRCm39) |
G278E |
probably damaging |
Het |
| Il18r1 |
T |
A |
1: 40,528,793 (GRCm39) |
I279K |
probably benign |
Het |
| Il21r |
A |
G |
7: 125,232,027 (GRCm39) |
D485G |
probably damaging |
Het |
| Jarid2 |
C |
T |
13: 45,068,253 (GRCm39) |
R1092W |
possibly damaging |
Het |
| Kdm4b |
T |
C |
17: 56,693,228 (GRCm39) |
L355P |
probably damaging |
Het |
| Kif26a |
C |
T |
12: 112,142,004 (GRCm39) |
R753W |
probably damaging |
Het |
| Krtcap2 |
C |
T |
3: 89,154,178 (GRCm39) |
T33I |
probably damaging |
Het |
| Mettl17 |
G |
A |
14: 52,129,009 (GRCm39) |
|
probably null |
Het |
| Mov10 |
A |
G |
3: 104,708,277 (GRCm39) |
F491L |
|
Het |
| Mterf1a |
C |
T |
5: 3,941,807 (GRCm39) |
W20* |
probably null |
Het |
| Nck2 |
T |
C |
1: 43,593,207 (GRCm39) |
V138A |
probably damaging |
Het |
| Or2h2c |
C |
T |
17: 37,422,509 (GRCm39) |
V122M |
possibly damaging |
Het |
| Or5ac24 |
C |
A |
16: 59,165,368 (GRCm39) |
G232V |
probably damaging |
Het |
| Or5ak24 |
A |
C |
2: 85,260,753 (GRCm39) |
V140G |
possibly damaging |
Het |
| Or7e173 |
A |
G |
9: 19,939,216 (GRCm39) |
V6A |
probably benign |
Het |
| Osmr |
A |
G |
15: 6,882,027 (GRCm39) |
V39A |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,899,017 (GRCm39) |
H998R |
probably damaging |
Het |
| Prb1a |
G |
A |
6: 132,184,388 (GRCm39) |
S415F |
unknown |
Het |
| Prl3d1 |
C |
T |
13: 27,280,470 (GRCm39) |
T73I |
probably benign |
Het |
| Scgn |
A |
G |
13: 24,137,921 (GRCm39) |
L250P |
probably damaging |
Het |
| Scyl3 |
T |
C |
1: 163,779,773 (GRCm39) |
I580T |
probably benign |
Het |
| Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
| Shank2 |
A |
T |
7: 143,585,041 (GRCm39) |
Q14L |
probably benign |
Het |
| Slc22a12 |
T |
A |
19: 6,587,686 (GRCm39) |
N423Y |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,473,056 (GRCm39) |
S951T |
probably benign |
Het |
| Vmn1r61 |
A |
G |
7: 5,613,498 (GRCm39) |
F272S |
probably damaging |
Het |
| Zbtb41 |
A |
T |
1: 139,358,053 (GRCm39) |
I454F |
probably benign |
Het |
| Zfp112 |
G |
T |
7: 23,826,108 (GRCm39) |
C696F |
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 |
|
|
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 |
|
|
R9775:Ubash3b
|
UTSW |
9 |
40,926,214 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGGTACCTTGCATGCTTTAAC -3'
(R):5'- TGGGGCTTTCTATCTCTGGAAC -3'
Sequencing Primer
(F):5'- GCATGCTTTAACTACGATCTCCG -3'
(R):5'- AACAGTGGGTTGATTGGGGC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation