Incidental Mutation 'IGL00426:Trav19'
ID 332385
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trav19
Ensembl Gene ENSMUSG00000076862
Gene Name T cell receptor alpha variable 19
Synonyms Gm13893
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # IGL00426
Quality Score
Status
Chromosome 14
Chromosomal Location 54082779-54083284 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54083141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 72 (L72P)
Ref Sequence ENSEMBL: ENSMUSP00000100451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103674]
AlphaFold A0A0B4J1K4
Predicted Effect probably damaging
Transcript: ENSMUST00000103674
AA Change: L72P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000100451
Gene: ENSMUSG00000076862
AA Change: L72P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IGv 44 118 4.26e-7 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik G A 1: 11,818,278 (GRCm39) E313K probably damaging Het
Aadacl2fm2 T A 3: 59,659,542 (GRCm39) L332I possibly damaging Het
Adgrl2 A G 3: 148,571,244 (GRCm39) V130A probably damaging Het
Arhgef28 G A 13: 98,124,785 (GRCm39) A499V probably benign Het
Ceacam18 C T 7: 43,288,780 (GRCm39) T177I probably benign Het
Cspp1 G A 1: 10,182,776 (GRCm39) probably benign Het
Cyp2j7 A T 4: 96,115,749 (GRCm39) probably benign Het
Cyp2j7 C T 4: 96,115,750 (GRCm39) probably null Het
Dip2c T C 13: 9,656,551 (GRCm39) F821L probably damaging Het
Lrig3 A T 10: 125,808,006 (GRCm39) R85* probably null Het
Mcf2l A G 8: 13,034,910 (GRCm39) D106G probably damaging Het
Mdn1 T C 4: 32,719,214 (GRCm39) V2259A possibly damaging Het
Mmp16 C T 4: 18,011,784 (GRCm39) P233L probably benign Het
Mrpl27 A G 11: 94,550,523 (GRCm39) N110S probably benign Het
Myom2 T C 8: 15,119,502 (GRCm39) M131T probably benign Het
Myzap T C 9: 71,462,953 (GRCm39) T198A probably benign Het
Nek8 T C 11: 78,058,653 (GRCm39) Q549R probably damaging Het
Nr1d2 A G 14: 18,215,502 (GRCm38) probably benign Het
Nup155 T C 15: 8,186,278 (GRCm39) *1347Q probably null Het
Pkd2l1 C T 19: 44,144,044 (GRCm39) R343H probably benign Het
Ppfibp2 T A 7: 107,308,012 (GRCm39) L215H probably damaging Het
Ralgds T C 2: 28,442,230 (GRCm39) L137P probably damaging Het
Rasa2 C T 9: 96,426,913 (GRCm39) D752N probably damaging Het
Spg11 T C 2: 121,896,041 (GRCm39) K1726E probably damaging Het
St6gal1 G A 16: 23,175,142 (GRCm39) probably benign Het
Tmem183a A G 1: 134,277,882 (GRCm39) L294P probably damaging Het
Vapa T C 17: 65,900,476 (GRCm39) T99A possibly damaging Het
Other mutations in Trav19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413:Trav19 APN 14 54,083,072 (GRCm39) missense probably damaging 1.00
IGL01873:Trav19 APN 14 54,083,173 (GRCm39) missense probably benign 0.00
R5725:Trav19 UTSW 14 54,082,999 (GRCm39) missense possibly damaging 0.55
R6127:Trav19 UTSW 14 54,082,999 (GRCm39) missense probably benign 0.02
R6272:Trav19 UTSW 14 54,083,255 (GRCm39) missense probably damaging 1.00
Posted On 2015-08-05