Incidental Mutation 'IGL02232:Tra2b'
ID 285789
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 # IGL02232
Quality Score
Status
Chromosome 16
Chromosomal Location 22063302-22084755 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 22067790 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 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 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 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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810030O07Rik A G X: 12,530,764 (GRCm39) V199A possibly damaging Het
Aco1 T C 4: 40,175,996 (GRCm39) M210T probably damaging Het
Actr10 G A 12: 70,990,289 (GRCm39) E114K probably benign Het
Adam6b T C 12: 113,454,764 (GRCm39) M527T probably benign Het
Ahi1 C T 10: 20,857,274 (GRCm39) T623M probably damaging Het
Aldh8a1 T C 10: 21,271,545 (GRCm39) W424R probably damaging Het
Apeh A T 9: 107,969,071 (GRCm39) S299T probably benign Het
Bbs5 A C 2: 69,485,895 (GRCm39) I147L probably benign Het
Bmp2k T G 5: 97,179,109 (GRCm39) probably benign Het
C2cd6 A G 1: 59,101,651 (GRCm39) F336S probably damaging Het
Cd274 T A 19: 29,359,938 (GRCm39) L248M probably damaging Het
Chsy3 T A 18: 59,542,383 (GRCm39) M507K possibly damaging Het
Clip2 T C 5: 134,531,984 (GRCm39) N572S probably damaging Het
Commd9 A G 2: 101,731,324 (GRCm39) T170A probably benign Het
Cpt1c G A 7: 44,609,580 (GRCm39) S674L probably damaging Het
Dhx33 C A 11: 70,878,030 (GRCm39) R671L probably damaging Het
Dnah5 G A 15: 28,299,386 (GRCm39) E1583K probably damaging Het
Eed G T 7: 89,621,493 (GRCm39) N51K probably damaging Het
Efcab14 A G 4: 115,617,261 (GRCm39) probably benign Het
Ephb2 A C 4: 136,384,762 (GRCm39) M884R probably damaging Het
Foxn2 G T 17: 88,770,479 (GRCm39) A109S probably benign Het
Fut1 A T 7: 45,268,871 (GRCm39) D220V probably damaging Het
Gm6468 C T 5: 95,429,066 (GRCm39) noncoding transcript Het
Gm7964 A T 7: 83,405,515 (GRCm39) noncoding transcript Het
Gm9772 C T 17: 22,226,031 (GRCm39) probably benign Het
Golph3 G T 15: 12,349,578 (GRCm39) M199I probably benign Het
Itpr1 A G 6: 108,394,884 (GRCm39) N1666D probably damaging Het
Itprid1 A G 6: 55,944,922 (GRCm39) T548A unknown Het
Kif12 C T 4: 63,084,732 (GRCm39) E529K probably benign Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Lrrc52 T A 1: 167,293,949 (GRCm39) N112I probably damaging Het
Msi1 T A 5: 115,579,506 (GRCm39) probably null Het
Nasp T G 4: 116,461,997 (GRCm39) E170A probably damaging Het
Necab2 T A 8: 120,189,391 (GRCm39) V187E probably damaging Het
Obscn T C 11: 58,929,804 (GRCm39) E5790G probably damaging Het
Or7e176 A T 9: 20,171,511 (GRCm39) D125V probably damaging Het
Or9a7 A G 6: 40,520,980 (GRCm39) L311P probably damaging Het
Pard3b C T 1: 62,205,541 (GRCm39) T445I probably damaging Het
Pcdh10 A G 3: 45,335,377 (GRCm39) I564V probably benign Het
Pcdhb22 T A 18: 37,653,602 (GRCm39) L690Q probably damaging Het
Pemt T A 11: 59,867,680 (GRCm39) T115S probably damaging Het
Plcl2 A G 17: 50,913,669 (GRCm39) N226S possibly damaging Het
Ppp6r1 A G 7: 4,636,341 (GRCm39) S750P probably damaging Het
Prtg T C 9: 72,758,771 (GRCm39) V375A probably damaging Het
Psd3 A C 8: 68,356,797 (GRCm39) M673R probably damaging Het
Ptprt T C 2: 161,372,437 (GRCm39) I1392V probably damaging Het
Rlf G A 4: 121,039,811 (GRCm39) T200I probably benign Het
Robo1 G A 16: 72,768,872 (GRCm39) G479D possibly damaging Het
Rpe65 A G 3: 159,309,988 (GRCm39) D87G possibly damaging Het
Sema3g T C 14: 30,943,181 (GRCm39) V148A probably damaging Het
Sgms2 G A 3: 131,116,833 (GRCm39) P341S probably benign Het
Skint7 A T 4: 111,839,225 (GRCm39) Q173L possibly damaging Het
Slc2a9 G A 5: 38,594,013 (GRCm39) A150V probably benign Het
Slc35c2 A G 2: 165,124,801 (GRCm39) L58P probably damaging Het
Slc7a6 G A 8: 106,923,206 (GRCm39) C495Y possibly damaging Het
Smurf1 G A 5: 144,823,248 (GRCm39) P458L probably damaging Het
Spag1 C T 15: 36,221,710 (GRCm39) T601I probably benign Het
Spink8 A T 9: 109,649,665 (GRCm39) Q49L possibly damaging Het
Spout1 A T 2: 30,065,266 (GRCm39) Y284N probably damaging Het
Srrm1 A T 4: 135,080,427 (GRCm39) M1K probably null Het
Stxbp5l A G 16: 37,150,257 (GRCm39) L116P probably damaging Het
Tlr9 T C 9: 106,102,136 (GRCm39) F476L probably damaging Het
Tmem41b A G 7: 109,577,960 (GRCm39) V108A probably damaging Het
Trio G T 15: 27,902,647 (GRCm39) H271Q probably benign Het
Ttn A G 2: 76,723,263 (GRCm39) probably benign Het
Usp51 A T X: 151,791,669 (GRCm39) H421L probably damaging Het
Vmn2r29 A T 7: 7,244,810 (GRCm39) W355R probably damaging Het
Vpreb1a T C 16: 16,686,603 (GRCm39) N96D possibly damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zp3r C A 1: 130,524,404 (GRCm39) C213F probably damaging Het
Other mutations in Tra2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2015-04-16