Incidental Mutation 'R3900:Ubash3b'
ID 308937
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 041607-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.218) question?
Stock # R3900 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 40922056-41069358 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 40942860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 211 (D211N)
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: D333N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000043865
Gene: ENSMUSG00000032020
AA Change: D333N

DomainStartEndE-ValueType
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: D211N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000116038
Gene: ENSMUSG00000032020
AA Change: D211N

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.1004 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (45/46)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik A T 13: 54,700,781 (GRCm39) S212R probably damaging Het
AI182371 T C 2: 34,975,228 (GRCm39) I334V probably benign Het
Anpep A G 7: 79,488,973 (GRCm39) S372P probably benign Het
Apc2 C A 10: 80,131,806 (GRCm39) probably null Het
Bcl6 T G 16: 23,796,304 (GRCm39) E41A possibly damaging Het
Brpf1 A G 6: 113,295,394 (GRCm39) I674V probably benign Het
Cherp A G 8: 73,223,780 (GRCm39) I201T possibly damaging Het
Cluh A G 11: 74,557,930 (GRCm39) H1056R probably benign Het
Csgalnact2 A T 6: 118,097,975 (GRCm39) F122I probably damaging Het
Cubn C A 2: 13,291,791 (GRCm39) probably null Het
Dnah17 A T 11: 117,985,634 (GRCm39) I1481N possibly damaging Het
Eif2ak4 A G 2: 118,305,510 (GRCm39) Y1561C probably damaging Het
Elfn1 G A 5: 139,957,719 (GRCm39) R241H probably damaging Het
Eml5 G A 12: 98,791,782 (GRCm39) R1245C probably damaging Het
Fchsd2 A G 7: 100,841,006 (GRCm39) K172E possibly damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm6133 A G 18: 78,393,365 (GRCm39) N120D probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Igsf9 T C 1: 172,317,125 (GRCm39) L35P probably damaging Het
Khdc3 T C 9: 73,011,628 (GRCm39) probably benign Het
Mmrn2 G T 14: 34,121,517 (GRCm39) probably null Het
Mrgpra1 G T 7: 46,985,275 (GRCm39) R135S possibly damaging Het
Or4c11b A T 2: 88,625,273 (GRCm39) L182F possibly damaging Het
Or8g2b A G 9: 39,750,698 (GRCm39) probably null Het
Otud3 T C 4: 138,624,196 (GRCm39) N282S probably benign Het
Prkar1a A G 11: 109,551,901 (GRCm39) K130R probably benign Het
Rd3 T C 1: 191,717,217 (GRCm39) V114A probably damaging Het
Rictor T G 15: 6,818,954 (GRCm39) D1392E probably benign Het
Setd2 C T 9: 110,421,586 (GRCm39) R273W probably damaging Het
Slc22a18 C A 7: 143,033,507 (GRCm39) A86E probably damaging Het
Slc24a1 A T 9: 64,835,426 (GRCm39) S900R probably damaging Het
Smarcc1 T C 9: 109,947,586 (GRCm39) probably benign Het
Smoc1 T C 12: 81,214,287 (GRCm39) V234A probably damaging Het
Stard9 A G 2: 120,544,030 (GRCm39) T4443A possibly damaging Het
Timp2 C T 11: 118,194,542 (GRCm39) D139N probably damaging Het
Trim69 A G 2: 122,009,322 (GRCm39) T461A probably benign Het
Ubr4 T C 4: 139,206,373 (GRCm39) probably null Het
Ubr5 T C 15: 38,019,486 (GRCm39) D752G probably damaging Het
Urb1 A T 16: 90,580,264 (GRCm39) I633N possibly damaging Het
Usp36 T A 11: 118,170,650 (GRCm39) D28V possibly damaging Het
Wdr6 G A 9: 108,452,968 (GRCm39) A305V probably damaging Het
Zfp248 T C 6: 118,406,527 (GRCm39) N253S probably damaging Het
Other mutations in Ubash3b
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ATGGTCCTCAAAGCATCCTG -3'
(R):5'- AAACATGTTCTTGCCTGGGG -3'

Sequencing Primer
(F):5'- CCTGGTGTACAACGTGAATTCCAG -3'
(R):5'- TCCCTCCTCACATTCTGAAACACG -3'
Posted On 2015-04-17