Incidental Mutation 'IGL03109:Trav18'
ID419126
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trav18
Ensembl Gene ENSMUSG00000076861
Gene NameT cell receptor alpha variable 18
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.041) question?
Stock #IGL03109
Quality Score
Status
Chromosome14
Chromosomal Location53831105-53831826 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 53831551 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 18 (A18T)
Ref Sequence ENSEMBL: ENSMUSP00000100450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103673] [ENSMUST00000186573]
Predicted Effect probably benign
Transcript: ENSMUST00000103673
AA Change: A18T

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000100450
Gene: ENSMUSG00000076861
AA Change: A18T

DomainStartEndE-ValueType
Pfam:Ig_2 19 109 8.6e-9 PFAM
Pfam:V-set 19 109 8.2e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186573
AA Change: A17T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000140810
Gene: ENSMUSG00000076861
AA Change: A17T

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
IG_like 37 108 3.2e-4 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A T 17: 48,166,460 S96R probably benign Het
Abca6 T A 11: 110,180,347 H1506L probably damaging Het
Adgrg1 T A 8: 95,007,676 probably benign Het
Ahi1 A G 10: 20,970,942 T424A probably benign Het
Birc6 T A 17: 74,579,334 S552R possibly damaging Het
Bptf T C 11: 107,061,701 T2172A possibly damaging Het
Commd9 T C 2: 101,897,170 V103A probably benign Het
Ctnnal1 T A 4: 56,839,045 D216V probably damaging Het
Dcbld2 A G 16: 58,456,402 T519A probably benign Het
Dennd6b T C 15: 89,184,985 probably benign Het
Dnah10 A G 5: 124,764,886 T1369A probably benign Het
Ect2 T C 3: 27,144,972 T222A possibly damaging Het
Eef2k G A 7: 120,891,726 G523E probably damaging Het
Ephb2 T G 4: 136,771,544 T75P probably damaging Het
Exo1 A T 1: 175,899,560 N479I probably damaging Het
Fign A G 2: 63,980,662 L88P possibly damaging Het
Golgb1 T A 16: 36,915,611 V1740E possibly damaging Het
Icos A G 1: 60,997,697 probably benign Het
Il6ra C A 3: 89,876,858 G369* probably null Het
Itpr1 A G 6: 108,417,981 D83G probably damaging Het
Kdm2a A G 19: 4,329,107 I560T probably benign Het
Lrp1 C T 10: 127,566,645 R2219H probably benign Het
Mical3 A T 6: 121,009,124 C119S probably damaging Het
Mipol1 G A 12: 57,364,224 R267H probably benign Het
Myrip A T 9: 120,453,724 probably null Het
Nelfb G A 2: 25,201,061 L542F possibly damaging Het
Nlrp4b T C 7: 10,714,946 C359R probably damaging Het
Noxred1 T A 12: 87,233,438 H40L probably damaging Het
Nphp1 A T 2: 127,768,169 probably benign Het
Olfr761 C T 17: 37,952,487 C179Y probably damaging Het
Pank3 T A 11: 35,777,674 F163L probably benign Het
Pde10a T C 17: 8,929,214 probably null Het
Pigc G A 1: 161,970,776 R109Q possibly damaging Het
Rfc3 A G 5: 151,643,094 S297P probably benign Het
Serinc1 A T 10: 57,523,069 M246K probably benign Het
Slc5a8 C T 10: 88,906,416 probably benign Het
Tecrl A G 5: 83,309,309 probably benign Het
Tex14 A T 11: 87,543,365 E119V probably damaging Het
Tmem94 A G 11: 115,792,398 K669R probably damaging Het
Tnfrsf4 C A 4: 156,015,411 H130Q probably damaging Het
Other mutations in Trav18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02137:Trav18 APN 14 53831735 missense probably benign 0.37
IGL02984:Trav18 UTSW 14 53831569 missense probably damaging 1.00
R3157:Trav18 UTSW 14 53831695 missense probably benign 0.13
R3720:Trav18 UTSW 14 53831617 missense possibly damaging 0.88
R4925:Trav18 UTSW 14 53831120 missense probably benign 0.08
R5925:Trav18 UTSW 14 53831695 missense probably benign 0.13
R6786:Trav18 UTSW 14 53831665 missense probably benign 0.20
Posted On2016-08-02