Incidental Mutation 'R8059:Trav21-dv12'
ID 619617
Institutional Source Beutler Lab
Gene Symbol Trav21-dv12
Ensembl Gene ENSMUSG00000076863
Gene Name T cell receptor alpha variable 21-DV12
Synonyms Gm13892
MMRRC Submission 067894-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R8059 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 54113473-54114209 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 54114178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 99 (D99E)
Ref Sequence ENSEMBL: ENSMUSP00000137998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103676] [ENSMUST00000180938] [ENSMUST00000187163]
AlphaFold A0A075B6C4
Predicted Effect probably benign
Transcript: ENSMUST00000103676
SMART Domains Protein: ENSMUSP00000100453
Gene: ENSMUSG00000076864

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:ig 26 112 6.7e-7 PFAM
Pfam:V-set 26 112 1.6e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000180938
AA Change: D99E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137998
Gene: ENSMUSG00000076863
AA Change: D99E

DomainStartEndE-ValueType
low complexity region 6 17 N/A INTRINSIC
Pfam:V-set 18 108 2.1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000187163
SMART Domains Protein: ENSMUSP00000139783
Gene: ENSMUSG00000076864

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
IG_like 37 110 6.4e-5 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,323,279 (GRCm39) M3372K probably benign Het
Abcg3 A T 5: 105,100,948 (GRCm39) probably null Het
Adam19 G A 11: 46,027,293 (GRCm39) probably benign Het
Adgrg6 G T 10: 14,344,794 (GRCm39) T53K probably damaging Het
Ccdc141 A C 2: 76,875,095 (GRCm39) L705R probably damaging Het
Cep78 A T 19: 15,958,876 (GRCm39) V156E probably benign Het
Cers2 A G 3: 95,229,982 (GRCm39) D342G probably damaging Het
Chl1 T A 6: 103,651,948 (GRCm39) I272N probably damaging Het
Defb30 A G 14: 63,273,383 (GRCm39) *77Q probably null Het
Dnai3 C G 3: 145,752,428 (GRCm39) R749S possibly damaging Het
Dnm3 A G 1: 161,911,708 (GRCm39) V63A probably damaging Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Entpd2 G T 2: 25,288,096 (GRCm39) V107L probably damaging Het
Hectd1 T A 12: 51,837,161 (GRCm39) H799L possibly damaging Het
Hira T C 16: 18,730,901 (GRCm39) V200A probably damaging Het
Hspd1 T C 1: 55,120,883 (GRCm39) K269E possibly damaging Het
Kcnj4 T C 15: 79,369,003 (GRCm39) S326G probably benign Het
Kctd19 T G 8: 106,122,983 (GRCm39) I144L probably benign Het
Lama4 T C 10: 38,842,057 (GRCm39) I36T probably benign Het
Lrrn3 T C 12: 41,504,216 (GRCm39) T34A probably benign Het
Maco1 A T 4: 134,555,359 (GRCm39) C371* probably null Het
Maml3 A G 3: 51,764,110 (GRCm39) S285P probably damaging Het
Man2b2 A G 5: 36,973,504 (GRCm39) Y492H probably damaging Het
Mapk10 G T 5: 103,114,478 (GRCm39) N303K probably damaging Het
Matn2 C T 15: 34,345,481 (GRCm39) R163C probably damaging Het
Mtmr7 C T 8: 41,034,564 (GRCm39) A253T probably damaging Het
Naca C T 10: 127,876,372 (GRCm39) P468L unknown Het
Nckap1l T C 15: 103,401,714 (GRCm39) S1084P possibly damaging Het
Nek11 T C 9: 105,040,173 (GRCm39) *629W probably null Het
Nfkb1 C T 3: 135,299,613 (GRCm39) A731T possibly damaging Het
Nop2 T C 6: 125,117,775 (GRCm39) V442A probably damaging Het
Oaz2 C T 9: 65,596,425 (GRCm39) P163L probably damaging Het
Or5p57 T C 7: 107,665,223 (GRCm39) T231A probably benign Het
Or6d14 C T 6: 116,533,434 (GRCm39) T16I possibly damaging Het
Or8k23 A G 2: 86,186,306 (GRCm39) V140A probably benign Het
Pabpc2 A T 18: 39,907,875 (GRCm39) N380I probably benign Het
Pax3 T C 1: 78,080,003 (GRCm39) D461G probably benign Het
Pds5b G T 5: 150,731,300 (GRCm39) R1443L unknown Het
Per1 G A 11: 68,997,309 (GRCm39) R828H probably damaging Het
Phlpp2 T A 8: 110,622,189 (GRCm39) S144T probably benign Het
Plod1 A T 4: 148,012,941 (GRCm39) I207N probably damaging Het
Psmc6 A T 14: 45,578,260 (GRCm39) I208F probably damaging Het
Rev3l T C 10: 39,719,491 (GRCm39) S2494P probably damaging Het
Rgs3 T C 4: 62,521,214 (GRCm39) probably benign Het
Rtraf T C 14: 19,872,631 (GRCm39) probably benign Het
Slc17a6 T A 7: 51,294,792 (GRCm39) N166K probably damaging Het
Slc18a2 A T 19: 59,272,572 (GRCm39) T348S probably benign Het
Slc39a8 G T 3: 135,532,347 (GRCm39) A39S probably benign Het
Slc8a3 C T 12: 81,249,032 (GRCm39) G799S probably damaging Het
Sp1 T G 15: 102,316,337 (GRCm39) S46R possibly damaging Het
Spta1 A G 1: 174,045,936 (GRCm39) probably benign Het
Stab1 G A 14: 30,882,198 (GRCm39) P499L probably benign Het
Trpv6 T G 6: 41,601,520 (GRCm39) I467L probably benign Het
Ttc41 A G 10: 86,548,842 (GRCm39) Y12C probably benign Het
Vmn1r233 T C 17: 21,214,698 (GRCm39) N84S probably benign Het
Vrtn T C 12: 84,696,690 (GRCm39) F480S probably benign Het
Zc3h13 C G 14: 75,565,250 (GRCm39) R788G unknown Het
Other mutations in Trav21-dv12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Trav21-dv12 APN 14 54,114,107 (GRCm39) missense probably benign 0.36
IGL01599:Trav21-dv12 APN 14 54,114,188 (GRCm39) missense probably damaging 1.00
IGL02185:Trav21-dv12 APN 14 54,113,955 (GRCm39) missense probably benign 0.00
IGL03342:Trav21-dv12 APN 14 54,113,501 (GRCm39) missense unknown
R4819:Trav21-dv12 UTSW 14 54,114,070 (GRCm39) nonsense probably null
R6460:Trav21-dv12 UTSW 14 54,114,191 (GRCm39) missense probably benign 0.00
R7327:Trav21-dv12 UTSW 14 54,113,514 (GRCm39) critical splice donor site probably benign
R7398:Trav21-dv12 UTSW 14 54,114,162 (GRCm39) missense probably benign 0.02
R7547:Trav21-dv12 UTSW 14 54,114,072 (GRCm39) missense probably damaging 0.96
R7592:Trav21-dv12 UTSW 14 54,113,997 (GRCm39) missense probably damaging 1.00
R8295:Trav21-dv12 UTSW 14 54,113,510 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GAAACGGTGCACTTGCCTTG -3'
(R):5'- TTGCCCAGTCGCAGAATCTC -3'

Sequencing Primer
(F):5'- GGTGCACTTGCCTTGTAGCC -3'
(R):5'- AGTCGCAGAATCTCTTTCTCC -3'
Posted On 2020-01-23