Incidental Mutation 'IGL03406:Ubash3b'
ID421615
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubash3b
Ensembl Gene ENSMUSG00000032020
Gene Nameubiquitin associated and SH3 domain containing, B
Synonyms2810457I06Rik, TULA-2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.281) question?
Stock #IGL03406
Quality Score
Status
Chromosome9
Chromosomal Location41011098-41161697 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 41037479 bp
ZygosityHeterozygous
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]
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
1700012P22Rik A G 4: 144,423,844 Y56H probably damaging Het
A530016L24Rik T A 12: 112,496,883 probably null Het
Adcy7 C T 8: 88,318,319 R228* probably null Het
Cdcp1 T C 9: 123,185,313 H132R probably benign Het
Cyp4a32 T C 4: 115,602,303 I78T probably benign Het
Fap A T 2: 62,542,122 probably benign Het
Gad1-ps C T 10: 99,444,779 noncoding transcript Het
Gli3 T C 13: 15,648,581 I296T probably damaging Het
H2-Q2 T C 17: 35,342,825 V97A probably benign Het
Hr T A 14: 70,563,420 probably null Het
Itgax C T 7: 128,149,198 T1133I possibly damaging Het
L3mbtl2 G A 15: 81,681,993 R339H probably damaging Het
Mast4 T C 13: 102,737,107 K1726E possibly damaging Het
Nlrc5 T C 8: 94,476,855 Y528H probably benign Het
Nmnat3 G A 9: 98,399,477 G44D probably damaging Het
Nol8 A T 13: 49,661,568 D366V probably damaging Het
Olfr539 C A 7: 140,667,511 L68M probably damaging Het
Pde4d A T 13: 109,954,591 probably benign Het
Ptpn22 C A 3: 103,912,016 N795K probably benign Het
Rabgap1l A T 1: 160,722,169 V289D probably damaging Het
Slc50a1 T C 3: 89,270,101 D40G possibly damaging Het
Slco6b1 T C 1: 96,947,585 noncoding transcript Het
Smarcad1 T A 6: 65,092,526 F530Y probably damaging Het
Spag6 A G 2: 18,742,873 probably benign Het
Supt16 A T 14: 52,178,141 I379N possibly damaging Het
Tmem154 A G 3: 84,684,260 N39S probably benign Het
Usp48 T A 4: 137,639,295 D921E possibly damaging Het
Zdhhc20 T C 14: 57,839,099 T366A probably benign Het
Zfp456 A T 13: 67,366,331 C419S probably damaging Het
Zfp69 T C 4: 120,931,084 T345A probably benign Het
Other mutations in Ubash3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01364:Ubash3b APN 9 41018015 critical splice donor site probably null
IGL01734:Ubash3b APN 9 41026247 splice site probably benign
IGL02311:Ubash3b APN 9 41047037 missense probably benign
PIT4618001:Ubash3b UTSW 9 41016627 missense probably benign 0.00
PIT4687001:Ubash3b UTSW 9 41023518 missense probably damaging 1.00
R0524:Ubash3b UTSW 9 41016608 missense probably benign 0.16
R0666:Ubash3b UTSW 9 41047064 missense possibly damaging 0.67
R0927:Ubash3b UTSW 9 41023557 nonsense probably null
R1112:Ubash3b UTSW 9 41028116 missense probably damaging 1.00
R1544:Ubash3b UTSW 9 41016605 missense probably damaging 1.00
R1596:Ubash3b UTSW 9 41031497 missense probably benign
R1610:Ubash3b UTSW 9 41043500 missense probably damaging 1.00
R2069:Ubash3b UTSW 9 41043573 missense possibly damaging 0.82
R2507:Ubash3b UTSW 9 41157354 missense possibly damaging 0.90
R2520:Ubash3b UTSW 9 41014947 missense probably damaging 1.00
R3899:Ubash3b UTSW 9 41031564 missense probably benign 0.00
R3900:Ubash3b UTSW 9 41031564 missense probably benign 0.00
R4715:Ubash3b UTSW 9 41016600 missense probably damaging 1.00
R4876:Ubash3b UTSW 9 41018109 missense probably benign 0.00
R5023:Ubash3b UTSW 9 41037459 missense possibly damaging 0.90
R5034:Ubash3b UTSW 9 41029740 missense probably benign 0.25
R5057:Ubash3b UTSW 9 41037459 missense possibly damaging 0.90
R5396:Ubash3b UTSW 9 41043473 critical splice donor site probably null
R5448:Ubash3b UTSW 9 41037435 critical splice donor site probably null
R5760:Ubash3b UTSW 9 41077423 missense probably benign 0.00
R6178:Ubash3b UTSW 9 41014916 missense probably damaging 0.96
R6392:Ubash3b UTSW 9 41014972 missense probably damaging 1.00
R8115:Ubash3b UTSW 9 41026328 missense probably damaging 1.00
Posted On2016-08-02