Incidental Mutation 'R0071:Tra2b'
ID 16334
Institutional Source Beutler Lab
Gene Symbol Tra2b
Ensembl Gene ENSMUSG00000022858
Gene Name transformer 2 beta
Synonyms Sfrs10, 5730405G21Rik, TRA2beta, Silg41
MMRRC Submission 038362-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0071 (G1)
Quality Score
Status Validated
Chromosome 16
Chromosomal Location 22063302-22084755 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 22073151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023564] [ENSMUST00000161286] [ENSMUST00000162413] [ENSMUST00000232471] [ENSMUST00000231312]
AlphaFold P62996
Predicted Effect probably benign
Transcript: ENSMUST00000023564
SMART Domains Protein: ENSMUSP00000023564
Gene: ENSMUSG00000022858

DomainStartEndE-ValueType
RRM 19 92 5.23e-27 SMART
low complexity region 113 149 N/A INTRINSIC
low complexity region 160 188 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159946
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160579
Predicted Effect probably benign
Transcript: ENSMUST00000161286
SMART Domains Protein: ENSMUSP00000124846
Gene: ENSMUSG00000022858

DomainStartEndE-ValueType
low complexity region 10 32 N/A INTRINSIC
low complexity region 36 107 N/A INTRINSIC
RRM 119 192 5.23e-27 SMART
low complexity region 213 249 N/A INTRINSIC
low complexity region 260 288 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161774
Predicted Effect probably benign
Transcript: ENSMUST00000162413
Predicted Effect probably benign
Transcript: ENSMUST00000232471
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232411
Predicted Effect probably benign
Transcript: ENSMUST00000231312
Coding Region Coverage
  • 1x: 88.2%
  • 3x: 84.4%
  • 10x: 70.8%
  • 20x: 43.5%
Validation Efficiency 93% (94/101)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein which functions as sequence-specific serine/arginine splicing factor which plays a role in mRNA processing, splicing patterns, and gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced embryo size and early embryonic lethality associated with deficient vasculogenesis and abnormal allantois morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acrbp T C 6: 125,027,915 (GRCm39) probably benign Het
Amotl1 G A 9: 14,460,069 (GRCm39) A890V probably benign Het
Aox3 T A 1: 58,211,050 (GRCm39) C931* probably null Het
Apob T A 12: 8,052,111 (GRCm39) V1184E probably damaging Het
Bbx C T 16: 50,100,755 (GRCm39) E47K probably benign Het
Bccip A G 7: 133,315,960 (GRCm39) D72G probably damaging Het
Bckdha A T 7: 25,329,868 (GRCm39) probably null Het
Bmerb1 A G 16: 13,906,818 (GRCm39) D11G probably damaging Het
Cald1 C T 6: 34,735,069 (GRCm39) probably benign Het
Cdk11b T C 4: 155,733,880 (GRCm39) probably benign Het
Cebpe G T 14: 54,948,061 (GRCm39) R261S probably damaging Het
Cep95 C T 11: 106,681,554 (GRCm39) probably benign Het
Chi3l1 T C 1: 134,113,017 (GRCm39) Y150H probably benign Het
Chrnd T C 1: 87,120,559 (GRCm39) probably benign Het
Cog2 T C 8: 125,275,407 (GRCm39) probably benign Het
Coro7 A T 16: 4,488,391 (GRCm39) L93Q probably damaging Het
Csmd3 T C 15: 47,460,217 (GRCm39) T3525A probably benign Het
Fam227b T A 2: 125,965,994 (GRCm39) N144Y probably benign Het
Fhod1 A T 8: 106,063,857 (GRCm39) probably null Het
Folr1 A G 7: 101,513,130 (GRCm39) probably null Het
Glis3 C T 19: 28,241,255 (GRCm39) probably benign Het
Golgb1 G A 16: 36,735,865 (GRCm39) R1704Q probably benign Het
Helz2 T C 2: 180,878,200 (GRCm39) Y866C probably damaging Het
Kcnma1 C T 14: 23,576,835 (GRCm39) R236H probably damaging Het
Lct C T 1: 128,219,755 (GRCm39) W1631* probably null Het
Limk1 G T 5: 134,690,245 (GRCm39) Q104K probably benign Het
Ly75 T C 2: 60,152,163 (GRCm39) K1130R probably benign Het
Mdm1 A G 10: 117,982,701 (GRCm39) E112G probably damaging Het
Myo7a A T 7: 97,706,037 (GRCm39) Y1836N probably damaging Het
Nsun7 A G 5: 66,421,388 (GRCm39) Y118C probably benign Het
Or13a20 A T 7: 140,232,170 (GRCm39) I93F probably benign Het
Or2d36 A G 7: 106,746,919 (GRCm39) Y132C probably damaging Het
Osbpl11 T C 16: 33,034,708 (GRCm39) probably benign Het
Pik3cb A T 9: 98,926,918 (GRCm39) D886E probably benign Het
Pkhd1 T A 1: 20,271,568 (GRCm39) Y2995F probably benign Het
Raver2 C T 4: 100,977,642 (GRCm39) probably benign Het
Sec22c A G 9: 121,521,979 (GRCm39) F44L probably damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Shoc1 A G 4: 59,059,643 (GRCm39) Y1006H possibly damaging Het
Sobp A G 10: 43,033,993 (GRCm39) L111P probably damaging Het
Sparcl1 G T 5: 104,233,707 (GRCm39) Y547* probably null Het
Spata31d1b G A 13: 59,863,163 (GRCm39) A104T probably benign Het
Spsb3 A G 17: 25,106,878 (GRCm39) D184G probably damaging Het
Sptan1 A T 2: 29,893,354 (GRCm39) K1148* probably null Het
Tdrd12 A G 7: 35,228,671 (GRCm39) V17A possibly damaging Het
Tlr9 A G 9: 106,100,777 (GRCm39) T23A probably benign Het
Tspan15 A G 10: 62,038,849 (GRCm39) probably benign Het
Ttc41 A G 10: 86,572,710 (GRCm39) N694S probably benign Het
Ube3b G A 5: 114,557,558 (GRCm39) G1014D probably damaging Het
Unc5d A G 8: 29,209,854 (GRCm39) V422A possibly damaging Het
Vmn2r80 C T 10: 79,007,566 (GRCm39) T514I possibly damaging Het
Other mutations in Tra2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02232:Tra2b APN 16 22,067,790 (GRCm39) splice site probably benign
IGL03183:Tra2b APN 16 22,073,303 (GRCm39) unclassified probably benign
IGL03375:Tra2b APN 16 22,065,993 (GRCm39) utr 3 prime probably benign
R0071:Tra2b UTSW 16 22,073,151 (GRCm39) unclassified probably benign
R0531:Tra2b UTSW 16 22,065,955 (GRCm39) nonsense probably null
R1715:Tra2b UTSW 16 22,071,496 (GRCm39) missense possibly damaging 0.69
R1937:Tra2b UTSW 16 22,065,993 (GRCm39) utr 3 prime probably benign
R1940:Tra2b UTSW 16 22,073,795 (GRCm39) unclassified probably benign
R5896:Tra2b UTSW 16 22,077,953 (GRCm39) missense probably damaging 0.97
R9011:Tra2b UTSW 16 22,065,940 (GRCm39) missense unknown
Posted On 2013-01-20