Incidental Mutation 'IGL03160:Tra2a'
ID 411395
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tra2a
Ensembl Gene ENSMUSG00000029817
Gene Name transformer 2 alpha
Synonyms mAWMS1, G430041M01Rik, 1500010G04Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.740) question?
Stock # IGL03160
Quality Score
Status
Chromosome 6
Chromosomal Location 49220858-49240967 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 49240798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 4 (V4I)
Ref Sequence ENSEMBL: ENSMUSP00000144908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031841] [ENSMUST00000203820] [ENSMUST00000204189]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000031841
AA Change: V4I
SMART Domains Protein: ENSMUSP00000031841
Gene: ENSMUSG00000029817
AA Change: V4I

DomainStartEndE-ValueType
low complexity region 29 106 N/A INTRINSIC
RRM 118 191 4.12e-25 SMART
low complexity region 213 282 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000203820
AA Change: V4I

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204013
Predicted Effect unknown
Transcript: ENSMUST00000204189
AA Change: V4I
SMART Domains Protein: ENSMUSP00000145039
Gene: ENSMUSG00000029817
AA Change: V4I

DomainStartEndE-ValueType
low complexity region 29 106 N/A INTRINSIC
RRM 118 191 1.8e-27 SMART
low complexity region 214 280 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204818
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 is a member of the transformer 2 homolog family and encodes a protein with several RRM (RNA recognition motif) domains. This phosphorylated nuclear protein binds to specific RNA sequences and plays a role in the regulation of pre-mRNA splicing. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 T C 13: 111,392,462 (GRCm39) S266P probably benign Het
Agrn A T 4: 156,254,820 (GRCm39) F1525Y probably damaging Het
Akap13 T C 7: 75,380,165 (GRCm39) V2165A probably damaging Het
Ccn6 T C 10: 39,029,233 (GRCm39) T232A probably damaging Het
Cd109 G T 9: 78,568,338 (GRCm39) probably null Het
Cdhr4 A C 9: 107,873,068 (GRCm39) T339P probably benign Het
Chek1 T C 9: 36,633,941 (GRCm39) H128R probably damaging Het
Clcn7 T A 17: 25,365,427 (GRCm39) probably benign Het
Dnah9 A G 11: 65,998,880 (GRCm39) F1056S probably damaging Het
Eml3 A T 19: 8,912,319 (GRCm39) Q372L probably benign Het
Fam161b T C 12: 84,400,599 (GRCm39) T458A probably benign Het
Fbxo3 T A 2: 103,860,692 (GRCm39) C36* probably null Het
Gm28042 T A 2: 119,866,309 (GRCm39) I369N possibly damaging Het
Gpc1 A G 1: 92,785,579 (GRCm39) Y423C probably damaging Het
Heatr5a A G 12: 51,931,279 (GRCm39) probably benign Het
Hectd4 A T 5: 121,397,942 (GRCm39) Y290F probably benign Het
Ifi207 T C 1: 173,562,670 (GRCm39) probably benign Het
Kndc1 A T 7: 139,500,605 (GRCm39) K657* probably null Het
Lama5 T C 2: 179,822,128 (GRCm39) T2927A probably damaging Het
Lepr A T 4: 101,622,103 (GRCm39) N345I probably damaging Het
Mtbp T C 15: 55,484,013 (GRCm39) probably benign Het
Muc1 G A 3: 89,140,331 (GRCm39) V608I possibly damaging Het
Or56a3 A G 7: 104,735,520 (GRCm39) N199S probably damaging Het
P2ry13 A G 3: 59,117,496 (GRCm39) L94P probably damaging Het
Retreg3 G T 11: 100,990,501 (GRCm39) Q89K probably benign Het
Rhoq A C 17: 87,304,349 (GRCm39) Y160S probably damaging Het
Samd9l A T 6: 3,374,894 (GRCm39) V789D probably damaging Het
Slc35f5 T C 1: 125,502,472 (GRCm39) S275P probably damaging Het
Slc51a G A 16: 32,297,568 (GRCm39) R110C probably damaging Het
Snapc1 T A 12: 74,016,978 (GRCm39) H205Q probably damaging Het
Stard3 G T 11: 98,269,737 (GRCm39) R352L probably damaging Het
Stat5a A G 11: 100,752,671 (GRCm39) I85V possibly damaging Het
Tenm3 A T 8: 49,099,453 (GRCm39) D117E probably benign Het
Tg T A 15: 66,711,152 (GRCm39) C971* probably null Het
Tnrc6c T A 11: 117,640,651 (GRCm39) probably benign Het
Trim54 C T 5: 31,289,424 (GRCm39) T145I probably damaging Het
Vmn2r75 T C 7: 85,797,644 (GRCm39) D723G probably damaging Het
Wnk1 T C 6: 119,903,594 (GRCm39) T2042A probably damaging Het
Zfp87 T C 13: 67,669,392 (GRCm39) E18G probably damaging Het
Other mutations in Tra2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02061:Tra2a APN 6 49,226,032 (GRCm39) missense possibly damaging 0.66
IGL03246:Tra2a APN 6 49,226,019 (GRCm39) nonsense probably null
IGL03098:Tra2a UTSW 6 49,225,969 (GRCm39) missense probably damaging 1.00
R0492:Tra2a UTSW 6 49,227,889 (GRCm39) utr 3 prime probably benign
R0544:Tra2a UTSW 6 49,227,885 (GRCm39) utr 3 prime probably benign
R1634:Tra2a UTSW 6 49,227,891 (GRCm39) utr 3 prime probably benign
R2174:Tra2a UTSW 6 49,227,861 (GRCm39) utr 3 prime probably benign
R2571:Tra2a UTSW 6 49,229,421 (GRCm39) utr 3 prime probably benign
R3154:Tra2a UTSW 6 49,222,446 (GRCm39) utr 3 prime probably benign
R3897:Tra2a UTSW 6 49,222,476 (GRCm39) utr 3 prime probably benign
R4488:Tra2a UTSW 6 49,229,428 (GRCm39) utr 3 prime probably benign
R5358:Tra2a UTSW 6 49,227,949 (GRCm39) utr 3 prime probably benign
R6045:Tra2a UTSW 6 49,229,398 (GRCm39) utr 3 prime probably benign
R7303:Tra2a UTSW 6 49,227,921 (GRCm39) missense unknown
R7450:Tra2a UTSW 6 49,227,919 (GRCm39) nonsense probably null
X0026:Tra2a UTSW 6 49,229,326 (GRCm39) utr 3 prime probably benign
Posted On 2016-08-02