Incidental Mutation 'R7961:Trav14d-3-dv8'
ID 650134
Institutional Source Beutler Lab
Gene Symbol Trav14d-3-dv8
Ensembl Gene ENSMUSG00000094619
Gene Name T cell receptor alpha variable 14D-3-DV8
Synonyms
MMRRC Submission 046005-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R7961 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 53316004-53316502 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 53316224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 28 (Q28P)
Ref Sequence ENSEMBL: ENSMUSP00000100385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103608]
AlphaFold A0A075B619
Predicted Effect probably damaging
Transcript: ENSMUST00000103608
AA Change: Q28P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000100385
Gene: ENSMUSG00000094619
AA Change: Q28P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 22 33 N/A INTRINSIC
IGv 45 119 3.4e-15 SMART
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 94% (44/47)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T A 5: 8,878,870 (GRCm39) N751K possibly damaging Het
Bckdha G A 7: 25,330,903 (GRCm39) R288W probably damaging Het
Ccng1 G A 11: 40,642,096 (GRCm39) H229Y probably benign Het
Cenpn C A 8: 117,663,976 (GRCm39) T256N probably benign Het
Ciart A G 3: 95,788,629 (GRCm39) V70A possibly damaging Het
Clcc1 A G 3: 108,568,774 (GRCm39) N36S probably damaging Het
Cntnap1 G A 11: 101,069,121 (GRCm39) A192T probably benign Het
Dmrt1 T A 19: 25,523,245 (GRCm39) S199T possibly damaging Het
Dmrt3 T C 19: 25,588,272 (GRCm39) V37A possibly damaging Het
Dock1 T A 7: 134,346,786 (GRCm39) D239E possibly damaging Het
Dyrk3 A G 1: 131,063,995 (GRCm39) probably null Het
Engase A G 11: 118,377,686 (GRCm39) D571G possibly damaging Het
Gm45871 C T 18: 90,609,883 (GRCm39) H374Y probably damaging Het
Icam5 T C 9: 20,950,051 (GRCm39) V870A possibly damaging Het
Idh2 T C 7: 79,748,001 (GRCm39) H233R probably benign Het
Kcna5 A G 6: 126,510,517 (GRCm39) L537P probably benign Het
Krt71 T C 15: 101,643,877 (GRCm39) I454V probably damaging Het
Krtap5-4 C T 7: 141,857,671 (GRCm39) Q114* probably null Het
Loxl3 T C 6: 83,027,790 (GRCm39) F734S possibly damaging Het
Lpcat1 C T 13: 73,659,498 (GRCm39) T420I probably damaging Het
Mia2 T A 12: 59,206,425 (GRCm39) probably null Het
Neurod4 A T 10: 130,106,356 (GRCm39) V306D possibly damaging Het
Nkiras2 A T 11: 100,510,628 (GRCm39) probably benign Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Ntrk3 T A 7: 78,103,076 (GRCm39) D408V probably benign Het
Nubpl T A 12: 52,228,080 (GRCm39) L168* probably null Het
Odf1 A G 15: 38,226,840 (GRCm39) I247V unknown Het
Or4c35 A G 2: 89,808,131 (GRCm39) Q3R probably benign Het
Or4k48 G A 2: 111,476,282 (GRCm39) S20F probably damaging Het
Or5d41 C A 2: 88,055,033 (GRCm39) M114I possibly damaging Het
Pcsk1 T C 13: 75,274,958 (GRCm39) S516P probably benign Het
Pikfyve A G 1: 65,294,293 (GRCm39) D1411G probably damaging Het
Polm T C 11: 5,780,155 (GRCm39) D294G possibly damaging Het
Ppcs A T 4: 119,276,262 (GRCm39) S281T probably benign Het
Pramel34 T C 5: 93,784,543 (GRCm39) D307G probably damaging Het
Pspc1 G A 14: 57,009,304 (GRCm39) Q177* probably null Het
Rbm33 G A 5: 28,599,606 (GRCm39) G185R Het
Satb2 A G 1: 56,910,917 (GRCm39) S243P probably benign Het
Serinc5 T C 13: 92,797,699 (GRCm39) probably null Het
Sgsm1 T C 5: 113,430,510 (GRCm39) T292A probably damaging Het
Smad3 G A 9: 63,557,564 (GRCm39) R420C possibly damaging Het
Sntg1 C T 1: 8,433,794 (GRCm39) V486I probably damaging Het
Tep1 A G 14: 51,061,687 (GRCm39) S2610P possibly damaging Het
Tmem200a A G 10: 25,869,904 (GRCm39) S122P probably damaging Het
Tnks2 T A 19: 36,829,901 (GRCm39) M194K probably benign Het
Trpm5 T C 7: 142,634,106 (GRCm39) E700G probably benign Het
Ubqln3 T A 7: 103,791,797 (GRCm39) I98L probably benign Het
Usp25 A G 16: 76,856,150 (GRCm39) I248V probably damaging Het
Vmn1r28 T C 6: 58,242,178 (GRCm39) V7A probably benign Het
Zfp60 G A 7: 27,447,881 (GRCm39) G183D probably benign Het
Other mutations in Trav14d-3-dv8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02839:Trav14d-3-dv8 APN 14 53,316,247 (GRCm39) missense possibly damaging 0.58
R7278:Trav14d-3-dv8 UTSW 14 53,316,218 (GRCm39) missense probably benign
R7389:Trav14d-3-dv8 UTSW 14 53,316,328 (GRCm39) missense possibly damaging 0.90
R8009:Trav14d-3-dv8 UTSW 14 53,316,224 (GRCm39) missense probably damaging 0.99
R8487:Trav14d-3-dv8 UTSW 14 53,316,192 (GRCm39) critical splice acceptor site probably benign
Predicted Primers PCR Primer
(F):5'- GGACAAGATCCTGACAGCATC -3'
(R):5'- AGATTGTGAATCGTCCATCTTCC -3'

Sequencing Primer
(F):5'- CAAGATCCTGACAGCATCGTTTTTAC -3'
(R):5'- CTTCCTTTTTATCGGACACTGAAAG -3'
Posted On 2020-09-15