Incidental Mutation 'R1112:Ubash3b'
ID 96845
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 039185-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.218) question?
Stock # R1112 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 40922056-41069358 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40939412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 287 (N287D)
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: N409D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043865
Gene: ENSMUSG00000032020
AA Change: N409D

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: N287D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116038
Gene: ENSMUSG00000032020
AA Change: N287D

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
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak7 A G 12: 105,679,831 (GRCm39) N122D probably benign Het
Arb2a A G 13: 77,910,005 (GRCm39) Y40C probably damaging Het
Atrn A G 2: 130,841,081 (GRCm39) D1161G probably benign Het
Bscl2 G C 19: 8,817,098 (GRCm39) G9R possibly damaging Het
Clstn2 T C 9: 97,340,281 (GRCm39) N697S possibly damaging Het
Ctnnd2 T C 15: 30,922,026 (GRCm39) V884A probably damaging Het
Dusp10 A T 1: 183,769,097 (GRCm39) Q21L probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Foxn1 A G 11: 78,261,856 (GRCm39) F171S probably benign Het
Fxr2 A G 11: 69,543,074 (GRCm39) S624G probably damaging Het
Gorasp2 C A 2: 70,521,158 (GRCm39) P376Q probably benign Het
Gpr33 A G 12: 52,070,155 (GRCm39) S295P probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hap1 C T 11: 100,245,143 (GRCm39) V23M probably damaging Het
Hsd3b5 C T 3: 98,537,393 (GRCm39) R41Q probably benign Het
Kif1c T G 11: 70,615,641 (GRCm39) probably null Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Madd A G 2: 90,973,944 (GRCm39) C1447R probably damaging Het
Myef2 A C 2: 124,939,506 (GRCm39) M426R probably damaging Het
Myh13 A T 11: 67,245,576 (GRCm39) D1072V probably damaging Het
Or1e34 A C 11: 73,779,060 (GRCm39) L46R probably damaging Het
Or51a5 C T 7: 102,771,611 (GRCm39) D123N probably damaging Het
Orc4 A T 2: 48,823,584 (GRCm39) N90K probably damaging Het
Padi4 C T 4: 140,485,427 (GRCm39) S246N probably benign Het
Pcdhb22 A T 18: 37,652,821 (GRCm39) T430S possibly damaging Het
Prkd3 T C 17: 79,273,837 (GRCm39) D473G probably damaging Het
Scn4a T C 11: 106,211,292 (GRCm39) Y1575C probably damaging Het
Serpinb6d A G 13: 33,853,118 (GRCm39) Y170C probably damaging Het
Slc12a2 A T 18: 58,070,824 (GRCm39) I1059L probably benign Het
Slc36a4 T A 9: 15,634,811 (GRCm39) F118I possibly damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Srpra A G 9: 35,126,255 (GRCm39) T483A probably benign Het
Sycp2 A T 2: 177,994,329 (GRCm39) D1198E probably benign Het
Uggt1 T C 1: 36,212,627 (GRCm39) D905G possibly damaging Het
Zfp692 T C 11: 58,202,388 (GRCm39) L381P 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
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
Predicted Primers PCR Primer
(F):5'- AGAGTACAAGGCATGGTTTCTGCAC -3'
(R):5'- AGTATTCCCCACTGCCCTCAGATG -3'

Sequencing Primer
(F):5'- accctgtctccaaccaaac -3'
(R):5'- CCCTCAGATGGTTTGATTAGTGTC -3'
Posted On 2014-01-05