Incidental Mutation 'IGL01310:Ubash3a'
ID73622
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubash3a
Ensembl Gene ENSMUSG00000042345
Gene Nameubiquitin associated and SH3 domain containing, A
Synonyms5830413C03Rik, Sts-2, TULA
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01310
Quality Score
Status
Chromosome17
Chromosomal Location31207873-31242202 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 31215142 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 154 (I154L)
Ref Sequence ENSEMBL: ENSMUSP00000045890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048656] [ENSMUST00000144772] [ENSMUST00000173776]
PDB Structure
Crystal structure of the 2H-phosphatase domain of Sts-2 [X-RAY DIFFRACTION]
Crystal structure of the 2H-phosphatase domain of Sts-2 in complex with tungstate. [X-RAY DIFFRACTION]
Crystal structure of the 2H-phosphatase domain of Sts-2 in complex with phosphate [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000048656
AA Change: I154L

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000045890
Gene: ENSMUSG00000042345
AA Change: I154L

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 benign
Transcript: ENSMUST00000144772
SMART Domains Protein: ENSMUSP00000119279
Gene: ENSMUSG00000042345

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 benign
Transcript: ENSMUST00000173776
SMART Domains Protein: ENSMUSP00000134557
Gene: ENSMUSG00000042345

DomainStartEndE-ValueType
Pfam:UBA 21 57 1.1e-6 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 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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921507P07Rik C A 6: 50,574,195 V425L probably benign Het
4930431F12Rik A T 5: 44,967,814 noncoding transcript Het
Abca12 A T 1: 71,284,156 I1589N probably benign Het
Abca8a T G 11: 110,059,975 D888A probably benign Het
Adam5 C T 8: 24,742,134 probably benign Het
Amer1 A T X: 95,427,110 N467K probably benign Het
Atp6v0a2 A G 5: 124,646,028 D272G probably damaging Het
Cacna1b A T 2: 24,685,782 N751K probably damaging Het
Cfi T A 3: 129,858,431 N250K probably damaging Het
Cndp2 G T 18: 84,670,877 P260Q possibly damaging Het
Cnnm3 A G 1: 36,512,875 D322G probably benign Het
Crybg1 A G 10: 44,003,600 S531P probably damaging Het
Crybg1 A T 10: 43,975,058 S1606T possibly damaging Het
Espnl A T 1: 91,340,611 K320* probably null Het
Glt1d1 A G 5: 127,632,320 T13A possibly damaging Het
Gpam C T 19: 55,078,332 A584T possibly damaging Het
Gpr19 A G 6: 134,869,742 I289T probably damaging Het
Grm8 T C 6: 27,363,801 I572V probably damaging Het
Gtpbp4 A T 13: 8,977,272 N502K probably benign Het
Herpud2 T C 9: 25,150,951 M6V probably benign Het
Igdcc3 T C 9: 65,178,442 V263A probably damaging Het
Il33 G A 19: 29,952,756 A65T probably benign Het
Itga9 T A 9: 118,769,159 M1K probably null Het
Izumo3 T C 4: 92,146,980 probably benign Het
Kdr G A 5: 75,949,601 P909S probably damaging Het
Kirrel C T 3: 87,089,875 E262K probably benign Het
Krt25 T A 11: 99,318,170 Q278L probably benign Het
Lgi2 G T 5: 52,554,465 P195Q probably benign Het
Lpcat3 T C 6: 124,699,338 F120S possibly damaging Het
Nalcn C T 14: 123,317,249 R910Q probably benign Het
Nrxn1 A G 17: 90,059,474 probably null Het
Nuf2 A T 1: 169,498,862 V440E probably benign Het
Olfr1130 T A 2: 87,607,508 I40N possibly damaging Het
Olfr1306 C T 2: 111,912,307 V208M probably benign Het
Olfr615 C T 7: 103,560,801 S108F probably benign Het
Olfr775 T C 10: 129,250,996 I154T possibly damaging Het
Pfpl A G 19: 12,428,610 D75G probably damaging Het
Pgm5 A G 19: 24,834,766 V134A possibly damaging Het
Prkch A G 12: 73,759,013 I521V possibly damaging Het
Rps6kc1 T A 1: 190,783,625 E968V probably benign Het
Slc25a30 T C 14: 75,769,597 Y153C probably damaging Het
Smtnl2 T A 11: 72,401,345 probably null Het
Tbc1d14 T A 5: 36,543,200 K275* probably null Het
Tnc T C 4: 64,013,077 T799A probably benign Het
Trdn A T 10: 33,305,098 probably benign Het
Ttn T C 2: 76,876,535 probably benign Het
Uaca T C 9: 60,872,225 M1296T probably benign Het
Vmn2r4 T A 3: 64,409,779 probably null Het
Xpc T C 6: 91,490,107 K915E probably benign Het
Zfp318 T C 17: 46,413,227 I2052T possibly damaging Het
Other mutations in Ubash3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00921:Ubash3a APN 17 31228186 missense probably benign
IGL01450:Ubash3a APN 17 31208231 missense probably damaging 1.00
IGL02429:Ubash3a APN 17 31241305 missense probably benign 0.00
IGL02458:Ubash3a APN 17 31231481 missense possibly damaging 0.94
IGL03014:Ubash3a UTSW 17 31239224 missense probably damaging 1.00
R1033:Ubash3a UTSW 17 31208212 missense probably damaging 1.00
R1700:Ubash3a UTSW 17 31215044 missense probably damaging 0.99
R2212:Ubash3a UTSW 17 31218034 missense probably damaging 1.00
R3800:Ubash3a UTSW 17 31231470 missense probably benign 0.24
R4125:Ubash3a UTSW 17 31237275 missense probably damaging 1.00
R4127:Ubash3a UTSW 17 31237275 missense probably damaging 1.00
R4128:Ubash3a UTSW 17 31237275 missense probably damaging 1.00
R4224:Ubash3a UTSW 17 31237928 missense probably damaging 1.00
R4786:Ubash3a UTSW 17 31217964 missense probably benign 0.31
R5311:Ubash3a UTSW 17 31219717 missense probably damaging 0.99
R5782:Ubash3a UTSW 17 31235503 missense probably benign 0.05
R5804:Ubash3a UTSW 17 31208232 critical splice donor site probably null
R6244:Ubash3a UTSW 17 31239272 missense possibly damaging 0.90
R6263:Ubash3a UTSW 17 31215095 missense probably benign 0.22
R6574:Ubash3a UTSW 17 31232396 missense probably damaging 1.00
R6736:Ubash3a UTSW 17 31231415 missense probably benign
R7041:Ubash3a UTSW 17 31228210 missense probably benign 0.00
R7458:Ubash3a UTSW 17 31208165 missense probably benign 0.02
R7490:Ubash3a UTSW 17 31232312 missense probably damaging 1.00
R7991:Ubash3a UTSW 17 31237895 missense probably benign 0.34
Posted On2013-10-07