Incidental Mutation 'IGL01320:Trav7-6'
ID74005
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trav7-6
Ensembl Gene ENSMUSG00000096138
Gene NameT cell receptor alpha variable 7-6
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #IGL01320
Quality Score
Status
Chromosome14
Chromosomal Location53716716-53717290 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 53717108 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 32 (S32P)
Ref Sequence ENSEMBL: ENSMUSP00000139015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103641] [ENSMUST00000184687]
Predicted Effect possibly damaging
Transcript: ENSMUST00000103641
AA Change: S52P

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000100418
Gene: ENSMUSG00000096138
AA Change: S52P

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGv 38 111 8.57e-12 SMART
Predicted Effect unknown
Transcript: ENSMUST00000103666
SMART Domains Protein: ENSMUSP00000100443
Gene: ENSMUSG00000096138

DomainStartEndE-ValueType
IGv 18 91 8.57e-12 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000184687
AA Change: S32P

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139015
Gene: ENSMUSG00000096138
AA Change: S32P

DomainStartEndE-ValueType
IGv 18 91 8.57e-12 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,575,588 E229G probably benign Het
Abca16 T A 7: 120,439,199 L368Q probably damaging Het
Ankrd17 A T 5: 90,260,129 S1410T probably damaging Het
Arntl T C 7: 113,303,407 I421T probably damaging Het
Asb8 A G 15: 98,141,278 probably benign Het
Chrdl2 A G 7: 100,017,041 Y56C probably damaging Het
Crnn T C 3: 93,148,212 S102P probably damaging Het
Cyb5a T C 18: 84,879,523 I115T probably damaging Het
Daw1 T C 1: 83,198,180 I213T possibly damaging Het
Dcp1b T A 6: 119,215,075 S317R probably benign Het
Dnah7a T C 1: 53,434,046 M3474V probably benign Het
E2f7 G A 10: 110,754,093 V36I probably benign Het
Esrp1 A G 4: 11,384,374 I103T possibly damaging Het
Hap1 G A 11: 100,349,380 T530I probably damaging Het
Hps3 T C 3: 20,030,469 N185S probably benign Het
Klra1 T A 6: 130,364,261 I250F probably benign Het
Lipn A G 19: 34,084,640 T332A probably benign Het
Ltbp4 A G 7: 27,328,359 probably benign Het
Ncor2 A G 5: 125,109,927 V11A probably benign Het
Nipsnap2 C T 5: 129,744,764 T108M probably damaging Het
Olfr153 T A 2: 87,532,285 M84K probably benign Het
Olfr479 A G 7: 108,054,981 probably benign Het
Ppid A G 3: 79,595,277 E46G probably damaging Het
Rrp12 A G 19: 41,877,936 L626P probably damaging Het
Slc6a15 A T 10: 103,404,745 I410F probably benign Het
Sorcs1 A G 19: 50,288,079 probably benign Het
Src G A 2: 157,469,503 G461R probably damaging Het
St8sia5 A T 18: 77,254,622 T307S probably damaging Het
Stac2 T C 11: 98,040,095 probably null Het
Tiam2 T C 17: 3,505,745 L77P probably damaging Het
Tmem87b G T 2: 128,831,216 G190V probably damaging Het
Unc45b A G 11: 82,912,393 probably null Het
Wnt1 C A 15: 98,792,523 D244E possibly damaging Het
Other mutations in Trav7-6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0100:Trav7-6 UTSW 14 53717072 missense probably damaging 1.00
R3023:Trav7-6 UTSW 14 53717244 missense probably benign
R4020:Trav7-6 UTSW 14 53717181 missense probably benign 0.19
R5049:Trav7-6 UTSW 14 53717079 missense probably damaging 0.97
R7349:Trav7-6 UTSW 14 53717147 missense probably benign
R7512:Trav7-6 UTSW 14 53717095 missense probably benign 0.22
Posted On2013-10-07