Incidental Mutation 'IGL02821:Trav12-1'
ID361003
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trav12-1
Ensembl Gene ENSMUSG00000096825
Gene NameT cell receptor alpha variable 12-1
SynonymsGm17011
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02821
Quality Score
Status
Chromosome14
Chromosomal Location53538266-53538738 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 53538459 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 22 (D22G)
Ref Sequence ENSEMBL: ENSMUSP00000100427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103650] [ENSMUST00000200115]
Predicted Effect probably damaging
Transcript: ENSMUST00000103650
AA Change: D22G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100427
Gene: ENSMUSG00000096825
AA Change: D22G

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
Pfam:V-set 21 114 3.8e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000200115
AA Change: D23G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143545
Gene: ENSMUSG00000096825
AA Change: D23G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:V-set 27 115 5.8e-15 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700015F17Rik G A 5: 5,452,039 Q138* probably null Het
1700025F22Rik A G 19: 11,141,533 *71Q probably null Het
4930474N05Rik T C 14: 36,096,516 L157S probably benign Het
Adam15 A G 3: 89,345,356 S309P probably damaging Het
Agtpbp1 A T 13: 59,482,601 M772K possibly damaging Het
Ankfn1 T C 11: 89,391,616 M402V probably benign Het
Anln G A 9: 22,358,122 T822I possibly damaging Het
Atp13a4 A G 16: 29,441,307 V589A probably benign Het
Ccm2l C T 2: 153,067,859 L44F probably damaging Het
Cd177 A T 7: 24,744,393 L760Q probably damaging Het
Cd177 G T 7: 24,744,394 L760M probably damaging Het
Cfap69 T C 5: 5,664,017 E5G probably benign Het
Col4a1 G A 8: 11,221,375 T753I probably benign Het
Col6a3 T A 1: 90,803,878 D1551V probably damaging Het
Ddx20 A G 3: 105,679,277 V584A probably benign Het
Dopey1 C A 9: 86,520,156 H1136Q probably benign Het
Egf T C 3: 129,702,479 E329G probably damaging Het
Eif3c A G 7: 126,558,659 V337A probably benign Het
Eif3f G T 7: 108,934,674 probably benign Het
Eif3f C T 7: 108,934,675 probably benign Het
Evc T A 5: 37,326,396 I187F probably benign Het
Fam117a T G 11: 95,363,989 probably benign Het
H2-M10.4 A T 17: 36,460,431 V285E probably damaging Het
Hps4 G T 5: 112,375,441 M608I probably benign Het
Idh3b T A 2: 130,284,401 N6I probably benign Het
Itgam A T 7: 128,076,109 M169L probably damaging Het
Kcnn3 G A 3: 89,662,722 G614D possibly damaging Het
Kcnn3 A G 3: 89,520,974 N169S possibly damaging Het
Mn1 A T 5: 111,421,851 K1229M probably damaging Het
Nckap5 A G 1: 126,027,816 M401T probably damaging Het
Olfr366 T C 2: 37,220,100 S204P probably damaging Het
Olfr891 T C 9: 38,180,668 N52D possibly damaging Het
Olfr985 T G 9: 40,127,265 E232A probably benign Het
Sim2 G A 16: 94,097,188 V94M probably damaging Het
Slc46a3 G A 5: 147,886,012 T340M probably benign Het
Ssc4d A G 5: 135,966,069 probably benign Het
Tcrg-V4 T A 13: 19,185,252 D55E possibly damaging Het
Trps1 G A 15: 50,660,877 T969M probably damaging Het
Ttn T A 2: 76,889,550 probably benign Het
Ubqln4 A G 3: 88,563,151 N310S probably benign Het
Vapa T C 17: 65,582,761 probably benign Het
Vmn1r65 T C 7: 6,008,894 T114A possibly damaging Het
Vps13d T C 4: 145,148,762 E1725G probably damaging Het
Vps53 A G 11: 76,136,317 probably benign Het
Xkr9 T C 1: 13,672,575 L28P probably damaging Het
Other mutations in Trav12-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02537:Trav12-1 APN 14 53538523 nonsense probably null
IGL02613:Trav12-1 APN 14 53538285 missense possibly damaging 0.53
IGL02940:Trav12-1 APN 14 53538560 missense probably damaging 1.00
IGL02950:Trav12-1 APN 14 53538567 missense probably damaging 1.00
R5469:Trav12-1 UTSW 14 53538473 missense probably damaging 0.97
Posted On2015-12-18