Incidental Mutation 'PIT4687001:Ubash3b'
ID 556192
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.218) question?
Stock # PIT4687001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 40922056-41069358 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40934814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 489 (F489L)
Ref Sequence ENSEMBL: ENSMUSP00000043865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044155] [ENSMUST00000151485]
AlphaFold Q8BGG7
PDB Structure Crystal Structure of the PGM domain of the Suppressor of T-Cell receptor (Sts-1) [X-RAY DIFFRACTION]
Crystal structure of mouse Sts-1 PGM domain in complex with phosphate [X-RAY DIFFRACTION]
The 1.35 A Structure of the Phosphatase Domain of the Suppressor of T Cell Receptor Signalling Protein in Complex with Sulphate [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000044155
AA Change: F489L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043865
Gene: ENSMUSG00000032020
AA Change: F489L

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: F367L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116038
Gene: ENSMUSG00000032020
AA Change: F367L

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: 93.4%
  • 3x: 90.8%
  • 10x: 84.7%
  • 20x: 71.6%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 T G 3: 137,995,596 (GRCm39) V333G probably damaging Het
Aggf1 A G 13: 95,501,383 (GRCm39) L333P probably damaging Het
Ankmy1 A G 1: 92,812,803 (GRCm39) V502A probably benign Het
Atm A G 9: 53,398,112 (GRCm39) probably null Het
Ccdc180 A G 4: 45,949,526 (GRCm39) T1594A probably damaging Het
Cep290 T A 10: 100,373,453 (GRCm39) D1244E probably benign Het
Ctnna3 A G 10: 64,670,385 (GRCm39) D638G probably damaging Het
Ctsr T C 13: 61,308,346 (GRCm39) H266R possibly damaging Het
D630045J12Rik C T 6: 38,172,036 (GRCm39) E711K probably benign Het
Dnah5 T C 15: 28,383,723 (GRCm39) S2982P probably damaging Het
Dsg1a G T 18: 20,464,755 (GRCm39) A417S probably benign Het
Gdpd1 T C 11: 86,950,366 (GRCm39) D69G probably damaging Het
Gp2 C T 7: 119,050,801 (GRCm39) R310H possibly damaging Het
Ifna2 G A 4: 88,601,542 (GRCm39) H159Y possibly damaging Het
Kptn T C 7: 15,859,751 (GRCm39) V325A probably damaging Het
Marchf7 A G 2: 60,062,622 (GRCm39) E143G probably damaging Het
Mcm4 A G 16: 15,454,577 (GRCm39) L47P probably benign Het
Mcm8 T C 2: 132,659,097 (GRCm39) F27S possibly damaging Het
Nod2 T A 8: 89,408,274 (GRCm39) V967E probably damaging Het
Nrxn2 G A 19: 6,531,338 (GRCm39) R659Q probably benign Het
Or10al4 T G 17: 38,037,082 (GRCm39) C56G probably benign Het
Or4x12-ps1 A G 2: 89,916,733 (GRCm39) V24A probably benign Het
Parp10 C T 15: 76,125,122 (GRCm39) R545Q probably benign Het
Ppp2r3d T C 9: 101,021,579 (GRCm39) E332G probably benign Het
Pramel27 C T 4: 143,573,103 (GRCm39) probably benign Het
Ptpdc1 A G 13: 48,739,766 (GRCm39) V555A probably benign Het
Qsox2 G A 2: 26,112,300 (GRCm39) L81F possibly damaging Het
Sbsn GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA 7: 30,452,391 (GRCm39) probably benign Het
Spata31 A G 13: 65,069,151 (GRCm39) D433G probably benign Het
Stpg2 T C 3: 138,921,026 (GRCm39) I77T possibly damaging Het
Sugp2 T C 8: 70,710,162 (GRCm39) S928P probably damaging Het
Syne1 A G 10: 5,308,390 (GRCm39) S722P possibly damaging Het
Szt2 A T 4: 118,255,398 (GRCm39) S229T possibly damaging Het
Tm9sf3 A G 19: 41,206,630 (GRCm39) L505P probably damaging Het
Ttc39d G A 17: 80,524,354 (GRCm39) A338T probably damaging Het
Xpo7 A T 14: 70,904,589 (GRCm39) Y1015N probably benign Het
Zbtb14 C A 17: 69,695,302 (GRCm39) Y333* probably null Het
Zp2 T C 7: 119,741,102 (GRCm39) T141A 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
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
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
Predicted Primers PCR Primer
(F):5'- CTTTGCTAGGTTTATCATCAGCTTG -3'
(R):5'- CATCATCACTGTGGCTCAGAG -3'

Sequencing Primer
(F):5'- CATCAGCTTGTTGAACATGGTC -3'
(R):5'- CACTATAGCTAGGTAGGACTTACG -3'
Posted On 2019-06-07