Incidental Mutation 'R0524:Ubash3b'
| ID |
48786 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ubash3b
|
| Ensembl Gene |
ENSMUSG00000032020 |
| Gene Name |
ubiquitin associated and SH3 domain containing, B |
| Synonyms |
2810457I06Rik, TULA-2 |
| MMRRC Submission |
038717-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.199)
|
| Stock # |
R0524 (G1)
|
| Quality Score |
182 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
41011098-41161697 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 41016608 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 468
(M468K)
|
| 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: M590K
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000043865
Gene: ENSMUSG00000032020
AA Change: M590K
| 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: M468K
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000116038
Gene: ENSMUSG00000032020
AA Change: M468K
| 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: 98.7%
- 10x: 96.4%
- 20x: 92.4%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd3 |
CGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGA |
1: 180,747,059 (GRCm38) |
|
probably benign |
Het |
| Adamts16 |
T |
C |
13: 70,800,894 (GRCm38) |
E216G |
probably benign |
Het |
| Aoc3 |
C |
A |
11: 101,337,511 (GRCm38) |
P715T |
probably damaging |
Het |
| Bnipl |
T |
C |
3: 95,249,829 (GRCm38) |
D33G |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,401,587 (GRCm38) |
H1701R |
probably damaging |
Het |
| Clca3b |
T |
A |
3: 144,825,321 (GRCm38) |
H756L |
probably benign |
Het |
| Clca4a |
A |
G |
3: 144,969,393 (GRCm38) |
W159R |
probably damaging |
Het |
| Ddx49 |
A |
T |
8: 70,296,924 (GRCm38) |
I252N |
probably damaging |
Het |
| Duox2 |
T |
C |
2: 122,281,836 (GRCm38) |
T1290A |
possibly damaging |
Het |
| Fam111a |
T |
A |
19: 12,588,048 (GRCm38) |
I431K |
probably damaging |
Het |
| Fam135b |
A |
T |
15: 71,462,284 (GRCm38) |
D1020E |
probably benign |
Het |
| Flii |
A |
G |
11: 60,720,061 (GRCm38) |
V514A |
probably damaging |
Het |
| Frmpd1 |
G |
A |
4: 45,256,902 (GRCm38) |
V157M |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,283,774 (GRCm38) |
D865G |
probably benign |
Het |
| Gm6970 |
T |
A |
19: 47,170,494 (GRCm38) |
K214M |
unknown |
Het |
| Gsr |
G |
A |
8: 33,669,180 (GRCm38) |
|
probably null |
Het |
| Hps3 |
A |
T |
3: 20,012,776 (GRCm38) |
V542E |
probably damaging |
Het |
| Kcnj5 |
A |
G |
9: 32,322,974 (GRCm38) |
I15T |
probably benign |
Het |
| Kif2b |
T |
C |
11: 91,575,724 (GRCm38) |
R578G |
probably benign |
Het |
| Lamb2 |
A |
G |
9: 108,484,372 (GRCm38) |
R676G |
possibly damaging |
Het |
| Mrpl40 |
A |
G |
16: 18,873,552 (GRCm38) |
F94S |
possibly damaging |
Het |
| Myo7b |
C |
T |
18: 32,013,424 (GRCm38) |
V103M |
possibly damaging |
Het |
| Nmt2 |
T |
A |
2: 3,305,437 (GRCm38) |
W69R |
probably benign |
Het |
| Nsd3 |
C |
A |
8: 25,700,577 (GRCm38) |
Q1130K |
possibly damaging |
Het |
| Olfml1 |
T |
C |
7: 107,590,177 (GRCm38) |
S150P |
probably damaging |
Het |
| Olfr123 |
A |
T |
17: 37,795,605 (GRCm38) |
K54* |
probably null |
Het |
| Olfr1471 |
A |
G |
19: 13,445,864 (GRCm38) |
N284S |
probably damaging |
Het |
| Pask |
A |
T |
1: 93,310,834 (GRCm38) |
W1310R |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,755,642 (GRCm38) |
Q408R |
probably damaging |
Het |
| Pfkm |
A |
G |
15: 98,131,607 (GRCm38) |
I700V |
probably benign |
Het |
| Pias1 |
A |
G |
9: 62,952,178 (GRCm38) |
V16A |
probably damaging |
Het |
| Pnpla8 |
C |
T |
12: 44,283,618 (GRCm38) |
Q318* |
probably null |
Het |
| Ppp1cc |
C |
T |
5: 122,172,770 (GRCm38) |
R142* |
probably null |
Het |
| Pygl |
T |
A |
12: 70,207,724 (GRCm38) |
N149I |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,690,284 (GRCm38) |
S1285T |
probably benign |
Het |
| Rdh13 |
A |
C |
7: 4,444,297 (GRCm38) |
C10W |
probably damaging |
Het |
| Rgr |
A |
T |
14: 37,038,295 (GRCm38) |
C273S |
probably benign |
Het |
| Ripk4 |
G |
T |
16: 97,755,287 (GRCm38) |
Y22* |
probably null |
Het |
| Slc34a2 |
G |
A |
5: 53,064,873 (GRCm38) |
W302* |
probably null |
Het |
| Smarce1 |
G |
A |
11: 99,214,062 (GRCm38) |
T263M |
probably damaging |
Het |
| Sypl |
C |
T |
12: 32,967,565 (GRCm38) |
P94L |
possibly damaging |
Het |
| Tet3 |
A |
G |
6: 83,379,942 (GRCm38) |
I878T |
probably damaging |
Het |
| Tmem232 |
A |
G |
17: 65,485,942 (GRCm38) |
S87P |
probably damaging |
Het |
| Tmem260 |
A |
G |
14: 48,472,478 (GRCm38) |
T163A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,725,452 (GRCm38) |
Y30403C |
probably damaging |
Het |
| Ulk4 |
A |
G |
9: 121,252,651 (GRCm38) |
|
probably null |
Het |
| Vmn1r72 |
A |
G |
7: 11,669,792 (GRCm38) |
F243S |
probably benign |
Het |
| Wrap73 |
A |
G |
4: 154,145,307 (GRCm38) |
Y45C |
probably damaging |
Het |
| Zfp704 |
T |
C |
3: 9,609,364 (GRCm38) |
D119G |
unknown |
Het |
| Zfp719 |
A |
G |
7: 43,589,253 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Ubash3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01364:Ubash3b
|
APN |
9 |
41,018,015 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01734:Ubash3b
|
APN |
9 |
41,026,247 (GRCm38) |
splice site |
probably benign |
|
|
IGL02311:Ubash3b
|
APN |
9 |
41,047,037 (GRCm38) |
missense |
probably benign |
|
|
IGL03406:Ubash3b
|
APN |
9 |
41,037,479 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4618001:Ubash3b
|
UTSW |
9 |
41,016,627 (GRCm38) |
missense |
probably benign |
0.00 |
|
PIT4687001:Ubash3b
|
UTSW |
9 |
41,023,518 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0666:Ubash3b
|
UTSW |
9 |
41,047,064 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R0927:Ubash3b
|
UTSW |
9 |
41,023,557 (GRCm38) |
nonsense |
probably null |
|
|
R1112:Ubash3b
|
UTSW |
9 |
41,028,116 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1544:Ubash3b
|
UTSW |
9 |
41,016,605 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1596:Ubash3b
|
UTSW |
9 |
41,031,497 (GRCm38) |
missense |
probably benign |
|
|
R1610:Ubash3b
|
UTSW |
9 |
41,043,500 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2069:Ubash3b
|
UTSW |
9 |
41,043,573 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R2507:Ubash3b
|
UTSW |
9 |
41,157,354 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R2520:Ubash3b
|
UTSW |
9 |
41,014,947 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3899:Ubash3b
|
UTSW |
9 |
41,031,564 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3900:Ubash3b
|
UTSW |
9 |
41,031,564 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4715:Ubash3b
|
UTSW |
9 |
41,016,600 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4876:Ubash3b
|
UTSW |
9 |
41,018,109 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5023:Ubash3b
|
UTSW |
9 |
41,037,459 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5034:Ubash3b
|
UTSW |
9 |
41,029,740 (GRCm38) |
missense |
probably benign |
0.25 |
|
R5057:Ubash3b
|
UTSW |
9 |
41,037,459 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5396:Ubash3b
|
UTSW |
9 |
41,043,473 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5448:Ubash3b
|
UTSW |
9 |
41,037,435 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5760:Ubash3b
|
UTSW |
9 |
41,077,423 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6178:Ubash3b
|
UTSW |
9 |
41,014,916 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6392:Ubash3b
|
UTSW |
9 |
41,014,972 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8115:Ubash3b
|
UTSW |
9 |
41,026,328 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8406:Ubash3b
|
UTSW |
9 |
41,029,675 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8411:Ubash3b
|
UTSW |
9 |
41,043,485 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8678:Ubash3b
|
UTSW |
9 |
41,031,489 (GRCm38) |
missense |
probably benign |
|
|
R9280:Ubash3b
|
UTSW |
9 |
41,161,581 (GRCm38) |
missense |
unknown |
|
|
R9559:Ubash3b
|
UTSW |
9 |
41,043,630 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9775:Ubash3b
|
UTSW |
9 |
41,014,918 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGAAGCTCCACTGAACACATCTTG -3'
(R):5'- AGTAGATTCTCCTGCCCTACATTGACC -3'
Sequencing Primer
(F):5'- GGCTCAGCAGAAAATTCTGC -3'
(R):5'- ccaggaccaaacccagag -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation