Incidental Mutation 'IGL03375:Tra2b'
ID 420451
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tra2b
Ensembl Gene ENSMUSG00000022858
Gene Name transformer 2 beta
Synonyms Sfrs10, 5730405G21Rik, TRA2beta, Silg41
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03375
Quality Score
Status
Chromosome 16
Chromosomal Location 22063302-22084755 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to C at 22065993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023564] [ENSMUST00000161286] [ENSMUST00000162413]
AlphaFold P62996
Predicted Effect unknown
Transcript: ENSMUST00000023564
AA Change: Y168C
SMART Domains Protein: ENSMUSP00000023564
Gene: ENSMUSG00000022858
AA Change: Y168C

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 unknown
Transcript: ENSMUST00000161286
AA Change: Y268C
SMART Domains Protein: ENSMUSP00000124846
Gene: ENSMUSG00000022858
AA Change: Y268C

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 noncoding transcript
Transcript: ENSMUST00000232411
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232582
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 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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap31 A G 16: 38,423,190 (GRCm39) S959P probably damaging Het
Arrb2 G A 11: 70,327,005 (GRCm39) G24D probably damaging Het
Catsper4 A G 4: 133,945,519 (GRCm39) I180T probably damaging Het
Chst15 G A 7: 131,872,186 (GRCm39) Q32* probably null Het
Cntnap5c A T 17: 58,469,200 (GRCm39) Y594F possibly damaging Het
Cse1l T A 2: 166,784,977 (GRCm39) probably benign Het
Dab1 A T 4: 104,538,798 (GRCm39) I201F possibly damaging Het
Eif2ak4 T C 2: 118,252,799 (GRCm39) V457A probably benign Het
Fkbp1b T C 12: 4,888,220 (GRCm39) probably benign Het
Fryl C A 5: 73,245,792 (GRCm39) V1122F possibly damaging Het
Gas2l2 A G 11: 83,317,036 (GRCm39) probably benign Het
Gstt2 A T 10: 75,668,655 (GRCm39) probably null Het
H4c14 T C 3: 96,170,458 (GRCm39) T55A possibly damaging Het
Hcst T G 7: 30,118,036 (GRCm39) probably benign Het
Hectd4 A G 5: 121,466,445 (GRCm39) E2420G possibly damaging Het
Ifi206 A T 1: 173,308,344 (GRCm39) S551T probably benign Het
Itgb3bp A G 4: 99,657,724 (GRCm39) probably benign Het
Krtap6-2 A G 16: 89,216,644 (GRCm39) Y108H unknown Het
Krtap6-5 T G 16: 88,844,740 (GRCm39) probably benign Het
Muc5b A G 7: 141,415,699 (GRCm39) T2882A possibly damaging Het
Nup214 C T 2: 31,900,233 (GRCm39) T854M probably damaging Het
Olfml2b A G 1: 170,477,401 (GRCm39) K179E probably benign Het
Or10d1b A G 9: 39,613,871 (GRCm39) S65P probably damaging Het
Or4k37 A T 2: 111,159,229 (GRCm39) H155L probably damaging Het
Per2 A T 1: 91,351,950 (GRCm39) I852K possibly damaging Het
Pkhd1 A T 1: 20,187,247 (GRCm39) I3687N probably damaging Het
Slc7a2 A T 8: 41,369,410 (GRCm39) S622C probably damaging Het
Smarcc2 G A 10: 128,318,781 (GRCm39) V719I probably damaging Het
Syne2 T C 12: 75,972,209 (GRCm39) I1033T possibly damaging Het
Tmod1 T C 4: 46,096,999 (GRCm39) I264T probably damaging Het
Tmtc3 G A 10: 100,283,581 (GRCm39) A658V possibly damaging Het
Top6bl T C 19: 4,748,206 (GRCm39) E164G probably benign Het
Tpm3 A G 3: 89,981,079 (GRCm39) E56G possibly damaging Het
Trmu T A 15: 85,779,138 (GRCm39) Y262N possibly damaging Het
Uox C T 3: 146,331,590 (GRCm39) T213I probably damaging Het
Vps13d A G 4: 144,818,517 (GRCm39) W2R probably 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
R0071:Tra2b UTSW 16 22,073,151 (GRCm39) unclassified 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 2016-08-02