Incidental Mutation 'IGL03098:Tra2a'
ID 452972
Institutional Source Beutler Lab
Gene Symbol Tra2a
Ensembl Gene ENSMUSG00000029817
Gene Name transformer 2 alpha
Synonyms mAWMS1, G430041M01Rik, 1500010G04Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.789) question?
Stock # IGL03098 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 49220858-49240967 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 49225969 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 157 (S157L)
Ref Sequence ENSEMBL: ENSMUSP00000145039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031841] [ENSMUST00000203820] [ENSMUST00000204189]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000031841
AA Change: S157L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031841
Gene: ENSMUSG00000029817
AA Change: S157L

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 probably benign
Transcript: ENSMUST00000203820
Predicted Effect probably damaging
Transcript: ENSMUST00000204189
AA Change: S157L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145039
Gene: ENSMUSG00000029817
AA Change: S157L

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 92% (44/48)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
Abca15 T C 7: 119,987,499 (GRCm39) probably null Het
Adcy4 T C 14: 56,019,038 (GRCm39) Q173R probably null Het
Arhgef19 A G 4: 140,974,879 (GRCm39) D113G possibly damaging Het
Btbd6 A G 12: 112,942,038 (GRCm39) E501G probably damaging Het
Btnl2 T C 17: 34,584,190 (GRCm39) V371A probably benign Het
Cd84 G T 1: 171,700,267 (GRCm39) R128L possibly damaging Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Dsg3 A T 18: 20,643,422 (GRCm39) probably benign Het
Efnb2 A T 8: 8,713,420 (GRCm39) probably benign Het
Fam24b T C 7: 130,927,977 (GRCm39) S71G probably benign Het
Flacc1 G T 1: 58,730,908 (GRCm39) H49Q probably benign Het
Hgd G A 16: 37,436,607 (GRCm39) C180Y probably benign Het
Hjurp TGGG TTGCGGG 1: 88,194,002 (GRCm39) probably benign Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Kcmf1 A T 6: 72,826,567 (GRCm39) M1K probably null Het
Letm2 T A 8: 26,071,745 (GRCm39) T386S possibly damaging Het
Lvrn A T 18: 47,014,477 (GRCm39) probably null Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Nid2 G A 14: 19,856,006 (GRCm39) D1244N probably damaging Het
Nvl G T 1: 180,921,471 (GRCm39) Q843K probably benign Het
Obi1 T C 14: 104,716,253 (GRCm39) I707V possibly damaging Het
Or1e30 T G 11: 73,678,529 (GRCm39) I255S probably benign Het
Pi4ka A T 16: 17,143,891 (GRCm39) I726N probably damaging Het
Rab25 A T 3: 88,449,567 (GRCm39) C209S probably damaging Het
Rgs6 A T 12: 83,032,150 (GRCm39) I21F probably damaging Het
Rnf10 T C 5: 115,410,426 (GRCm39) D16G probably damaging Het
Rnmt G A 18: 68,439,073 (GRCm39) V61M probably damaging Het
Rrs1 GCTC GC 1: 9,616,328 (GRCm39) probably null Het
Scd4 A T 19: 44,321,931 (GRCm39) M1L possibly damaging Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Sptb A G 12: 76,668,273 (GRCm39) I608T probably damaging Het
Sstr5 A G 17: 25,710,251 (GRCm39) V326A probably benign Het
Sugct T C 13: 17,846,321 (GRCm39) D62G probably damaging Het
Thada C G 17: 84,641,569 (GRCm39) D1306H possibly damaging Het
Thap1 C G 8: 26,652,498 (GRCm39) P79A probably benign Het
Trappc10 C T 10: 78,050,520 (GRCm39) R307Q probably damaging Het
Trim9 A G 12: 70,327,467 (GRCm39) I390T possibly damaging Het
Usp24 T C 4: 106,228,230 (GRCm39) V765A probably benign Het
Wdr90 C A 17: 26,078,961 (GRCm39) probably benign Het
Ybey A T 10: 76,304,078 (GRCm39) C41* probably null Het
Other mutations in Tra2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02061:Tra2a APN 6 49,226,032 (GRCm39) missense possibly damaging 0.66
IGL03160:Tra2a APN 6 49,240,798 (GRCm39) missense possibly damaging 0.46
IGL03246:Tra2a APN 6 49,226,019 (GRCm39) nonsense probably null
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
Predicted Primers PCR Primer
(F):5'- CAGGTCACAGAATCTGAAGGC -3'
(R):5'- AAATTGCTGGGCTAGACTAGG -3'

Sequencing Primer
(F):5'- GTCACAGAATCTGAAGGCATATTTAC -3'
(R):5'- AGATCTTCATGTGTTTTGATCTTACG -3'
Posted On 2017-01-24