Incidental Mutation 'IGL03406:Ubash3b'
ID 421615
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubash3b
Ensembl Gene ENSMUSG00000032020
Gene Name ubiquitin associated and SH3 domain containing, B
Synonyms Sts-1, 2810457I06Rik, TULA-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.218) question?
Stock # IGL03406
Quality Score
Status
Chromosome 9
Chromosomal Location 40922056-41069358 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40948775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 180 (Y180F)
Ref Sequence ENSEMBL: ENSMUSP00000116038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044155] [ENSMUST00000151485]
AlphaFold Q8BGG7
Predicted Effect probably damaging
Transcript: ENSMUST00000044155
AA Change: Y302F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043865
Gene: ENSMUSG00000032020
AA Change: Y302F

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 damaging
Transcript: ENSMUST00000151485
AA Change: Y180F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116038
Gene: ENSMUSG00000032020
AA Change: Y180F

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
Coding Region Coverage
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530016L24Rik T A 12: 112,463,317 (GRCm39) probably null Het
Adcy7 C T 8: 89,044,947 (GRCm39) R228* probably null Het
Cdcp1 T C 9: 123,014,378 (GRCm39) H132R probably benign Het
Cfap107 A G 4: 144,150,414 (GRCm39) Y56H probably damaging Het
Cyp4a32 T C 4: 115,459,500 (GRCm39) I78T probably benign Het
Fap A T 2: 62,372,466 (GRCm39) probably benign Het
Gad1-ps C T 10: 99,280,641 (GRCm39) noncoding transcript Het
Gli3 T C 13: 15,823,166 (GRCm39) I296T probably damaging Het
H2-Q2 T C 17: 35,561,801 (GRCm39) V97A probably benign Het
Hr T A 14: 70,800,860 (GRCm39) probably null Het
Itgax C T 7: 127,748,370 (GRCm39) T1133I possibly damaging Het
L3mbtl2 G A 15: 81,566,194 (GRCm39) R339H probably damaging Het
Mast4 T C 13: 102,873,615 (GRCm39) K1726E possibly damaging Het
Nlrc5 T C 8: 95,203,483 (GRCm39) Y528H probably benign Het
Nmnat3 G A 9: 98,281,530 (GRCm39) G44D probably damaging Het
Nol8 A T 13: 49,815,044 (GRCm39) D366V probably damaging Het
Or13a25 C A 7: 140,247,424 (GRCm39) L68M probably damaging Het
Pde4d A T 13: 110,091,125 (GRCm39) probably benign Het
Ptpn22 C A 3: 103,819,332 (GRCm39) N795K probably benign Het
Rabgap1l A T 1: 160,549,739 (GRCm39) V289D probably damaging Het
Slc50a1 T C 3: 89,177,408 (GRCm39) D40G possibly damaging Het
Slco6b1 T C 1: 96,875,310 (GRCm39) noncoding transcript Het
Smarcad1 T A 6: 65,069,510 (GRCm39) F530Y probably damaging Het
Spag6 A G 2: 18,747,684 (GRCm39) probably benign Het
Supt16 A T 14: 52,415,598 (GRCm39) I379N possibly damaging Het
Tmem154 A G 3: 84,591,567 (GRCm39) N39S probably benign Het
Usp48 T A 4: 137,366,606 (GRCm39) D921E possibly damaging Het
Zdhhc20 T C 14: 58,076,556 (GRCm39) T366A probably benign Het
Zfp456 A T 13: 67,514,450 (GRCm39) C419S probably damaging Het
Zfp69 T C 4: 120,788,281 (GRCm39) T345A probably benign 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
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
R9775:Ubash3b UTSW 9 40,926,214 (GRCm39) missense possibly damaging 0.68
Posted On 2016-08-02