Incidental Mutation 'R1033:Ubash3a'
ID 95338
Institutional Source Beutler Lab
Gene Symbol Ubash3a
Ensembl Gene ENSMUSG00000042345
Gene Name ubiquitin associated and SH3 domain containing, A
Synonyms Sts-2, 5830413C03Rik, TULA
MMRRC Submission 039132-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1033 (G1)
Quality Score 173
Status Not validated
Chromosome 17
Chromosomal Location 31426847-31465866 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 31427186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 32 (G32S)
Ref Sequence ENSEMBL: ENSMUSP00000134557 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048656] [ENSMUST00000144772] [ENSMUST00000173776]
AlphaFold Q3V3E1
Predicted Effect probably damaging
Transcript: ENSMUST00000048656
AA Change: G32S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045890
Gene: ENSMUSG00000042345
AA Change: G32S

DomainStartEndE-ValueType
Pfam:UBA 23 57 2.6e-7 PFAM
SH3 241 302 5.53e-10 SMART
Pfam:His_Phos_1 402 601 6.5e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000144772
AA Change: G32S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119279
Gene: ENSMUSG00000042345
AA Change: G32S

DomainStartEndE-ValueType
Pfam:UBA 21 57 8.3e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147686
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151620
Predicted Effect probably damaging
Transcript: ENSMUST00000173776
AA Change: G32S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134557
Gene: ENSMUSG00000042345
AA Change: G32S

DomainStartEndE-ValueType
Pfam:UBA 21 57 1.1e-6 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 91.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of two family members belonging to the T-cell ubiquitin ligand (TULA) family. Both family members can negatively regulate T-cell signaling. This family member can facilitate growth factor withdrawal-induced apoptosis in T cells, which may occur via its interaction with AIF, an apoptosis-inducing factor. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous null mice are viable and healthy with no abnormalities detected in any of the hematopoietic lineages. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh G A 5: 77,024,130 (GRCm39) T174M probably damaging Het
Akap6 A C 12: 53,116,005 (GRCm39) D1036A probably damaging Het
Alg6 T C 4: 99,650,270 (GRCm39) S497P probably benign Het
Arhgap10 T A 8: 77,983,976 (GRCm39) I700L possibly damaging Het
Atp11a A G 8: 12,878,555 (GRCm39) Y377C probably damaging Het
Atp2b2 A T 6: 113,770,849 (GRCm39) probably null Het
Card14 T A 11: 119,229,196 (GRCm39) V702D probably damaging Het
Ccdc17 C T 4: 116,454,077 (GRCm39) R32* probably null Het
Cdh20 A T 1: 110,012,783 (GRCm39) D372V probably damaging Het
Cfap54 A T 10: 92,675,311 (GRCm39) I2870N probably benign Het
Cped1 G T 6: 22,016,950 (GRCm39) V100F probably damaging Het
Dapk1 T C 13: 60,869,679 (GRCm39) probably null Het
Exoc4 G A 6: 33,242,922 (GRCm39) G45D probably damaging Het
Fam110b A T 4: 5,799,440 (GRCm39) N286I probably benign Het
Fbxo10 A T 4: 45,062,236 (GRCm39) C97S probably damaging Het
Frem3 A T 8: 81,421,786 (GRCm39) H2062L probably benign Het
Frk T C 10: 34,484,454 (GRCm39) C476R probably damaging Het
Gm10542 A G 18: 44,337,668 (GRCm39) T49A probably benign Het
Gm128 A G 3: 95,147,322 (GRCm39) V324A possibly damaging Het
Gpr141 C T 13: 19,935,880 (GRCm39) M298I probably benign Het
Gxylt1 T C 15: 93,142,958 (GRCm39) E369G probably benign Het
Hpse2 A G 19: 42,901,638 (GRCm39) V368A probably benign Het
Ice1 A T 13: 70,754,713 (GRCm39) S458T probably damaging Het
Itgb7 T A 15: 102,131,989 (GRCm39) D198V probably damaging Het
Kcnk10 A G 12: 98,484,929 (GRCm39) V72A possibly damaging Het
Magel2 A G 7: 62,029,798 (GRCm39) M901V unknown Het
Mgam A T 6: 40,657,558 (GRCm39) Y971F probably benign Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mug1 A T 6: 121,857,510 (GRCm39) D1078V probably damaging Het
Myom2 G A 8: 15,158,934 (GRCm39) R870H probably benign Het
Nek8 A T 11: 78,062,111 (GRCm39) L71Q probably null Het
Nox4 T A 7: 87,023,621 (GRCm39) D502E probably damaging Het
Nsmaf G A 4: 6,438,054 (GRCm39) P73S probably damaging Het
Nup205 C T 6: 35,204,377 (GRCm39) A1421V probably benign Het
Nxpe4 T C 9: 48,304,533 (GRCm39) F207L probably damaging Het
Or1p1 A C 11: 74,179,492 (GRCm39) T7P probably damaging Het
Or3a1 A C 11: 74,225,462 (GRCm39) N198K possibly damaging Het
Or4k38 A T 2: 111,166,147 (GRCm39) I92N probably damaging Het
Or5al7 A G 2: 85,993,194 (GRCm39) I33T possibly damaging Het
Pals2 T C 6: 50,160,716 (GRCm39) Y326H probably damaging Het
Prkdc T C 16: 15,585,815 (GRCm39) L2451P probably damaging Het
Rad51ap2 C T 12: 11,506,252 (GRCm39) S58F probably damaging Het
Rbbp8 A G 18: 11,875,762 (GRCm39) R892G probably benign Het
Rock1 A G 18: 10,067,535 (GRCm39) S1333P probably benign Het
Rpl7 A G 1: 16,172,728 (GRCm39) I197T probably benign Het
Sar1a C A 10: 61,521,395 (GRCm39) Q81K probably damaging Het
Shank1 A T 7: 44,006,220 (GRCm39) H1979L possibly damaging Het
Slc10a2 C T 8: 5,154,889 (GRCm39) V99M probably damaging Het
Slc22a30 G A 19: 8,313,165 (GRCm39) Q436* probably null Het
Spata31e2 G A 1: 26,721,466 (GRCm39) P1238L probably benign Het
Speer4a2 T C 5: 26,294,125 (GRCm39) K18E probably benign Het
Szt2 C T 4: 118,244,303 (GRCm39) R1305H probably damaging Het
Vmn1r200 G A 13: 22,580,060 (GRCm39) D279N probably damaging Het
Zbtb8a T C 4: 129,248,014 (GRCm39) D419G possibly damaging Het
Other mutations in Ubash3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00921:Ubash3a APN 17 31,447,160 (GRCm39) missense probably benign
IGL01310:Ubash3a APN 17 31,434,116 (GRCm39) missense probably benign 0.03
IGL01450:Ubash3a APN 17 31,427,205 (GRCm39) missense probably damaging 1.00
IGL02429:Ubash3a APN 17 31,460,279 (GRCm39) missense probably benign 0.00
IGL02458:Ubash3a APN 17 31,450,455 (GRCm39) missense possibly damaging 0.94
IGL03014:Ubash3a UTSW 17 31,458,198 (GRCm39) missense probably damaging 1.00
R1700:Ubash3a UTSW 17 31,434,018 (GRCm39) missense probably damaging 0.99
R2212:Ubash3a UTSW 17 31,437,008 (GRCm39) missense probably damaging 1.00
R3800:Ubash3a UTSW 17 31,450,444 (GRCm39) missense probably benign 0.24
R4125:Ubash3a UTSW 17 31,456,249 (GRCm39) missense probably damaging 1.00
R4127:Ubash3a UTSW 17 31,456,249 (GRCm39) missense probably damaging 1.00
R4128:Ubash3a UTSW 17 31,456,249 (GRCm39) missense probably damaging 1.00
R4224:Ubash3a UTSW 17 31,456,902 (GRCm39) missense probably damaging 1.00
R4786:Ubash3a UTSW 17 31,436,938 (GRCm39) missense probably benign 0.31
R5311:Ubash3a UTSW 17 31,438,691 (GRCm39) missense probably damaging 0.99
R5782:Ubash3a UTSW 17 31,454,477 (GRCm39) missense probably benign 0.05
R5804:Ubash3a UTSW 17 31,427,206 (GRCm39) critical splice donor site probably null
R6244:Ubash3a UTSW 17 31,458,246 (GRCm39) missense possibly damaging 0.90
R6263:Ubash3a UTSW 17 31,434,069 (GRCm39) missense probably benign 0.22
R6574:Ubash3a UTSW 17 31,451,370 (GRCm39) missense probably damaging 1.00
R6736:Ubash3a UTSW 17 31,450,389 (GRCm39) missense probably benign
R7041:Ubash3a UTSW 17 31,447,184 (GRCm39) missense probably benign 0.00
R7458:Ubash3a UTSW 17 31,427,139 (GRCm39) missense probably benign 0.02
R7490:Ubash3a UTSW 17 31,451,286 (GRCm39) missense probably damaging 1.00
R7991:Ubash3a UTSW 17 31,456,869 (GRCm39) missense probably benign 0.34
R9040:Ubash3a UTSW 17 31,457,960 (GRCm39) intron probably benign
R9200:Ubash3a UTSW 17 31,436,971 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCGGCAAGGAGAATTCAAGCCC -3'
(R):5'- TCCTAGCCTTAGAGCCTCATGTCAG -3'

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