Incidental Mutation 'IGL01924:Trav6-3'
ID180203
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trav6-3
Ensembl Gene ENSMUSG00000094220
Gene NameT cell receptor alpha variable 6-3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #IGL01924
Quality Score
Status
Chromosome14
Chromosomal Location53428711-53430375 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 53430343 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 102 (I102L)
Ref Sequence ENSEMBL: ENSMUSP00000137964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000180549] [ENSMUST00000183604]
Predicted Effect unknown
Transcript: ENSMUST00000179557
SMART Domains Protein: ENSMUSP00000137033
Gene: ENSMUSG00000094220

DomainStartEndE-ValueType
Pfam:V-set 14 101 2.1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180549
AA Change: I102L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000137964
Gene: ENSMUSG00000094220
AA Change: I102L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:V-set 21 112 7.5e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183604
AA Change: I91L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000138968
Gene: ENSMUSG00000094220
AA Change: I91L

DomainStartEndE-ValueType
Pfam:V-set 10 101 4.6e-13 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C T 5: 114,223,986 probably benign Het
Adamts13 A G 2: 26,996,583 E938G possibly damaging Het
Aox2 C T 1: 58,287,743 T167I possibly damaging Het
Apba3 G T 10: 81,273,073 A557S probably benign Het
Atad2b T C 12: 5,034,093 L1382P probably damaging Het
Atrn C T 2: 130,935,565 T178I probably damaging Het
B4galnt1 A G 10: 127,166,761 S88G probably benign Het
Baz2b T C 2: 59,935,271 K887E probably damaging Het
Ccdc162 A C 10: 41,569,887 F430V probably damaging Het
Cdc42bpb T A 12: 111,317,453 probably benign Het
Chit1 A G 1: 134,149,410 D317G probably benign Het
Chrnb1 A T 11: 69,795,019 probably benign Het
Cobl G T 11: 12,254,596 T620K probably benign Het
Creld1 T C 6: 113,483,960 F20L probably benign Het
Csmd2 A T 4: 128,559,947 D3475V unknown Het
Cyp3a57 A G 5: 145,372,629 D259G probably benign Het
Dbnl A G 11: 5,797,142 Y224C probably damaging Het
Det1 A T 7: 78,843,823 C144* probably null Het
Fbxo47 G T 11: 97,856,160 A360D probably damaging Het
Frrs1 G A 3: 116,885,239 G237R probably damaging Het
Gatsl2 T C 5: 134,135,602 F134S probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm4788 G A 1: 139,739,206 L444F probably damaging Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Gria2 T C 3: 80,710,331 T372A probably benign Het
Hmcn2 A T 2: 31,398,917 Q2246L probably benign Het
Ide T C 19: 37,272,164 M930V unknown Het
Kdm5a T C 6: 120,394,255 probably null Het
Khnyn A G 14: 55,894,969 T625A probably benign Het
Lrrtm1 T C 6: 77,244,186 F209L possibly damaging Het
Med13 C A 11: 86,308,696 probably benign Het
Myom2 A G 8: 15,069,685 E147G probably benign Het
Myrip T A 9: 120,388,264 V88D probably damaging Het
Nbeal2 T C 9: 110,631,414 H1784R probably benign Het
Nlrp4e T A 7: 23,320,830 C247* probably null Het
Nup54 G A 5: 92,424,435 P252L probably benign Het
Olfr610 A G 7: 103,506,796 I50T possibly damaging Het
Otoa C A 7: 121,105,968 N244K probably damaging Het
Pbrm1 G A 14: 31,082,604 R960H probably damaging Het
Ptcd3 A T 6: 71,898,427 N190K probably damaging Het
Rhobtb1 T A 10: 69,270,304 L233H probably damaging Het
Sec24c T A 14: 20,689,689 F545I probably damaging Het
Slc6a15 T C 10: 103,404,825 probably null Het
Slitrk1 G A 14: 108,911,239 A680V probably benign Het
Smpd1 C T 7: 105,555,448 S178L probably benign Het
Spindoc A G 19: 7,382,677 L42P probably damaging Het
Tenm4 A G 7: 96,895,212 E2145G probably damaging Het
Tmem144 G T 3: 79,839,194 A18E probably damaging Het
Tmem213 A T 6: 38,109,438 S10C possibly damaging Het
Trip11 T G 12: 101,886,884 N483T possibly damaging Het
Unc13b C T 4: 43,239,385 R1056* probably null Het
Wdr27 T G 17: 14,917,226 K433N probably damaging Het
Wls C A 3: 159,901,443 S189* probably null Het
Yeats2 A G 16: 20,206,167 N706D probably damaging Het
Zbp1 A G 2: 173,212,254 V158A probably benign Het
Zfp595 G T 13: 67,317,783 H139N possibly damaging Het
Other mutations in Trav6-3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4079:Trav6-3 UTSW 14 53430080 missense possibly damaging 0.89
R4513:Trav6-3 UTSW 14 53430091 missense probably benign 0.01
R5851:Trav6-3 UTSW 14 53430115 missense probably benign 0.03
R5864:Trav6-3 UTSW 14 53430171 nonsense probably null
R6543:Trav6-3 UTSW 14 53428762 start codon destroyed probably null 1.00
Posted On2014-05-07