Incidental Mutation 'R1693:Vars1'
ID 191970
Institutional Source Beutler Lab
Gene Symbol Vars1
Ensembl Gene ENSMUSG00000007029
Gene Name valyl-tRNA synthetase 1
Synonyms Bat6, Vars2, G7a, Bat-6, D17H6S56E, Vars
MMRRC Submission 039726-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R1693 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 35219963-35235298 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35217172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 427 (D427E)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087315] [ENSMUST00000172570] [ENSMUST00000173584] [ENSMUST00000174260]
AlphaFold Q9Z1Q9
Predicted Effect probably benign
Transcript: ENSMUST00000087315
SMART Domains Protein: ENSMUSP00000084572
Gene: ENSMUSG00000007029

DomainStartEndE-ValueType
Pfam:GST_N 2 81 5.7e-16 PFAM
Pfam:GST_C 107 198 7.3e-13 PFAM
low complexity region 234 256 N/A INTRINSIC
low complexity region 261 271 N/A INTRINSIC
Pfam:tRNA-synt_1 307 938 2e-197 PFAM
Pfam:tRNA-synt_1g 336 496 6e-6 PFAM
Pfam:tRNA-synt_1_2 555 623 1.9e-11 PFAM
Pfam:Anticodon_1 983 1138 2.6e-34 PFAM
low complexity region 1153 1174 N/A INTRINSIC
low complexity region 1207 1225 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166828
AA Change: D427E

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133003
Gene: ENSMUSG00000091747
AA Change: D427E

DomainStartEndE-ValueType
Pfam:TLV_coat 37 582 2.4e-96 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172570
SMART Domains Protein: ENSMUSP00000134245
Gene: ENSMUSG00000007029

DomainStartEndE-ValueType
Pfam:GST_C 2 76 1.2e-13 PFAM
low complexity region 112 124 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172637
Predicted Effect probably benign
Transcript: ENSMUST00000173584
SMART Domains Protein: ENSMUSP00000133994
Gene: ENSMUSG00000007029

DomainStartEndE-ValueType
low complexity region 25 38 N/A INTRINSIC
low complexity region 44 58 N/A INTRINSIC
low complexity region 78 89 N/A INTRINSIC
Pfam:GST_C 96 198 7.8e-14 PFAM
low complexity region 234 256 N/A INTRINSIC
low complexity region 261 271 N/A INTRINSIC
Pfam:tRNA-synt_1 307 938 1.9e-200 PFAM
Pfam:tRNA-synt_1g 336 493 2.1e-7 PFAM
Pfam:tRNA-synt_1_2 555 623 1.1e-12 PFAM
Pfam:Anticodon_1 983 1138 7.2e-36 PFAM
low complexity region 1153 1174 N/A INTRINSIC
coiled coil region 1197 1225 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174260
SMART Domains Protein: ENSMUSP00000134313
Gene: ENSMUSG00000007029

DomainStartEndE-ValueType
Pfam:GST_N 2 81 2.2e-16 PFAM
Pfam:GST_C 96 198 2.1e-13 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.2%
  • 20x: 92.2%
Validation Efficiency 96% (69/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. The protein encoded by this gene belongs to class-I aminoacyl-tRNA synthetase family and is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 A G 11: 53,287,380 (GRCm39) D378G probably damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Aox1 T C 1: 58,124,701 (GRCm39) Y981H probably damaging Het
Arfgap2 T A 2: 91,100,420 (GRCm39) probably null Het
Ccnf TGGGGG TGGGGGGG 17: 24,445,514 (GRCm39) probably null Het
Cd53 T C 3: 106,676,205 (GRCm39) N54S possibly damaging Het
Cep152 C A 2: 125,408,174 (GRCm39) A1390S probably benign Het
Cfap91 A G 16: 38,162,085 (GRCm39) Y19H probably benign Het
Chd7 T C 4: 8,864,307 (GRCm39) probably null Het
Chrm5 A G 2: 112,309,625 (GRCm39) L497P probably damaging Het
Colec12 G A 18: 9,866,765 (GRCm39) V659M unknown Het
Creb3 C A 4: 43,566,755 (GRCm39) H390Q probably damaging Het
D1Pas1 T C 1: 186,700,226 (GRCm39) F52L probably benign Het
D5Ertd579e A G 5: 36,771,441 (GRCm39) F985L probably damaging Het
Dock4 C T 12: 40,884,721 (GRCm39) P1742S probably benign Het
Ehmt2 G T 17: 35,125,386 (GRCm39) V534L possibly damaging Het
Epcam A G 17: 87,947,324 (GRCm39) D26G probably benign Het
F2 C T 2: 91,459,524 (GRCm39) V420M probably damaging Het
Fbxw16 A T 9: 109,265,327 (GRCm39) D401E possibly damaging Het
Fiz1 T C 7: 5,011,727 (GRCm39) T264A probably benign Het
Fsbp T C 4: 11,583,745 (GRCm39) V148A probably benign Het
Furin A G 7: 80,042,230 (GRCm39) L455P probably damaging Het
Ggt7 G A 2: 155,348,395 (GRCm39) R10W probably damaging Het
Gucy2g T C 19: 55,211,358 (GRCm39) E624G probably damaging Het
Igf2r A G 17: 12,923,203 (GRCm39) F1202S probably damaging Het
Ikzf1 C T 11: 11,657,838 (GRCm39) P32S probably damaging Het
Itgal G A 7: 126,904,453 (GRCm39) V309M probably damaging Het
Kcnk5 C A 14: 20,191,964 (GRCm39) R399L probably damaging Het
Kdm5b C T 1: 134,525,314 (GRCm39) probably benign Het
Lrp2 C T 2: 69,340,762 (GRCm39) V1038M probably damaging Het
Lrp4 T C 2: 91,322,698 (GRCm39) Y1096H probably damaging Het
Lrrc7 C G 3: 157,790,170 (GRCm39) S1465T possibly damaging Het
Map3k5 A G 10: 19,979,988 (GRCm39) N832S probably damaging Het
Mrtfb C A 16: 13,216,334 (GRCm39) L349I possibly damaging Het
Mrtfb T A 16: 13,216,335 (GRCm39) L349Q probably damaging Het
Myh13 A C 11: 67,232,310 (GRCm39) M495L possibly damaging Het
Myh9 A C 15: 77,697,097 (GRCm39) Y106D probably damaging Het
Naa16 A T 14: 79,588,896 (GRCm39) W452R probably damaging Het
Nsd1 T C 13: 55,395,074 (GRCm39) S892P probably benign Het
Nup205 A G 6: 35,187,906 (GRCm39) I939V probably benign Het
Oit3 A G 10: 59,261,239 (GRCm39) F476S probably damaging Het
Or7e174 T C 9: 20,012,883 (GRCm39) V276A probably benign Het
Panx3 A T 9: 37,580,203 (GRCm39) M50K possibly damaging Het
Panx3 A C 9: 37,580,242 (GRCm39) M37R possibly damaging Het
Pip4p2 T A 4: 14,886,631 (GRCm39) D68E probably benign Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Prkaca T A 8: 84,707,827 (GRCm39) D37E probably benign Het
Prkcq T A 2: 11,259,010 (GRCm39) I310N probably damaging Het
Prrc2c A G 1: 162,546,282 (GRCm39) Y235H probably damaging Het
Ptprj A T 2: 90,280,141 (GRCm39) C1052* probably null Het
Rad52 C A 6: 119,892,996 (GRCm39) P180Q probably damaging Het
Sdhaf3 T A 6: 7,038,964 (GRCm39) D95E probably benign Het
Slitrk6 A G 14: 110,988,360 (GRCm39) I449T probably damaging Het
Spata7 T A 12: 98,630,516 (GRCm39) M358K possibly damaging Het
Tada2a C T 11: 83,972,895 (GRCm39) G178D probably damaging Het
Tap2 G C 17: 34,428,186 (GRCm39) V287L probably benign Het
Tmem200a A G 10: 25,869,877 (GRCm39) F131L possibly damaging Het
Traip A T 9: 107,847,229 (GRCm39) K356M probably damaging Het
Tspan8 T A 10: 115,679,949 (GRCm39) probably benign Het
U2surp A T 9: 95,393,913 (GRCm39) M1K probably null Het
Vmn1r113 G A 7: 20,521,532 (GRCm39) C108Y probably damaging Het
Vmn2r63 T A 7: 42,577,743 (GRCm39) Q265L probably benign Het
Vps33b T A 7: 79,937,641 (GRCm39) V463E probably damaging Het
Vrtn T C 12: 84,695,429 (GRCm39) S60P probably benign Het
Zfp53 T A 17: 21,729,884 (GRCm39) V639D possibly damaging Het
Zfp964 T A 8: 70,116,800 (GRCm39) S466T possibly damaging Het
Other mutations in Vars1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01520:Vars1 APN 17 35,232,849 (GRCm39) missense probably benign 0.00
IGL02160:Vars1 APN 17 35,220,478 (GRCm39) missense probably damaging 1.00
IGL02303:Vars1 APN 17 35,234,460 (GRCm39) splice site probably benign
IGL03027:Vars1 APN 17 35,232,663 (GRCm39) missense probably damaging 1.00
Maladroit UTSW 17 35,224,451 (GRCm39) missense probably benign 0.30
Whoops UTSW 17 35,232,620 (GRCm39) missense probably damaging 1.00
FR4304:Vars1 UTSW 17 35,234,965 (GRCm39) small insertion probably benign
FR4548:Vars1 UTSW 17 35,234,967 (GRCm39) small insertion probably benign
FR4548:Vars1 UTSW 17 35,234,965 (GRCm39) small insertion probably benign
FR4589:Vars1 UTSW 17 35,234,964 (GRCm39) small insertion probably benign
R0045:Vars1 UTSW 17 35,229,595 (GRCm39) missense probably damaging 1.00
R0045:Vars1 UTSW 17 35,229,595 (GRCm39) missense probably damaging 1.00
R0045:Vars1 UTSW 17 35,217,042 (GRCm39) missense probably benign 0.13
R0266:Vars1 UTSW 17 35,232,845 (GRCm39) missense probably benign 0.00
R0267:Vars1 UTSW 17 35,230,572 (GRCm39) splice site probably benign
R0391:Vars1 UTSW 17 35,230,462 (GRCm39) missense possibly damaging 0.79
R0445:Vars1 UTSW 17 35,230,785 (GRCm39) missense probably benign 0.31
R0449:Vars1 UTSW 17 35,231,703 (GRCm39) splice site probably null
R0557:Vars1 UTSW 17 35,223,960 (GRCm39) missense possibly damaging 0.90
R0559:Vars1 UTSW 17 35,233,034 (GRCm39) nonsense probably null
R0730:Vars1 UTSW 17 35,233,276 (GRCm39) missense probably damaging 1.00
R0748:Vars1 UTSW 17 35,216,988 (GRCm39) missense probably damaging 1.00
R1692:Vars1 UTSW 17 35,232,701 (GRCm39) missense probably damaging 1.00
R1697:Vars1 UTSW 17 35,217,198 (GRCm39) missense probably benign 0.43
R1699:Vars1 UTSW 17 35,233,734 (GRCm39) missense possibly damaging 0.93
R1712:Vars1 UTSW 17 35,233,728 (GRCm39) missense probably damaging 1.00
R1989:Vars1 UTSW 17 35,230,814 (GRCm39) missense possibly damaging 0.94
R2349:Vars1 UTSW 17 35,234,728 (GRCm39) missense probably benign
R2365:Vars1 UTSW 17 35,234,428 (GRCm39) missense probably benign 0.01
R3790:Vars1 UTSW 17 35,218,310 (GRCm39) missense probably benign 0.34
R4615:Vars1 UTSW 17 35,232,857 (GRCm39) missense probably damaging 0.97
R4844:Vars1 UTSW 17 35,230,588 (GRCm39) missense probably damaging 1.00
R4856:Vars1 UTSW 17 35,234,702 (GRCm39) missense probably benign 0.37
R4886:Vars1 UTSW 17 35,234,702 (GRCm39) missense probably benign 0.37
R5570:Vars1 UTSW 17 35,235,214 (GRCm39) missense probably benign 0.04
R5706:Vars1 UTSW 17 35,224,457 (GRCm39) splice site probably null
R5858:Vars1 UTSW 17 35,224,451 (GRCm39) missense probably benign 0.30
R5907:Vars1 UTSW 17 35,231,352 (GRCm39) missense probably damaging 1.00
R5917:Vars1 UTSW 17 35,231,491 (GRCm39) missense probably damaging 0.99
R5944:Vars1 UTSW 17 35,232,620 (GRCm39) missense probably damaging 1.00
R6023:Vars1 UTSW 17 35,220,585 (GRCm39) missense probably damaging 1.00
R6073:Vars1 UTSW 17 35,220,505 (GRCm39) missense probably benign
R6273:Vars1 UTSW 17 35,232,719 (GRCm39) missense probably damaging 1.00
R6390:Vars1 UTSW 17 35,234,615 (GRCm39) missense probably benign 0.00
R6658:Vars1 UTSW 17 35,234,717 (GRCm39) missense probably benign 0.03
R7067:Vars1 UTSW 17 35,230,455 (GRCm39) missense probably damaging 0.98
R7387:Vars1 UTSW 17 35,223,768 (GRCm39) nonsense probably null
R7954:Vars1 UTSW 17 35,234,960 (GRCm39) missense probably benign 0.01
R8139:Vars1 UTSW 17 35,230,480 (GRCm39) missense probably benign 0.16
R8347:Vars1 UTSW 17 35,234,953 (GRCm39) missense possibly damaging 0.92
R8387:Vars1 UTSW 17 35,229,490 (GRCm39) missense probably damaging 0.99
R8855:Vars1 UTSW 17 35,234,620 (GRCm39) missense probably benign 0.00
R8866:Vars1 UTSW 17 35,234,620 (GRCm39) missense probably benign 0.00
R9131:Vars1 UTSW 17 35,223,773 (GRCm39) missense possibly damaging 0.77
R9620:Vars1 UTSW 17 35,235,001 (GRCm39) missense unknown
R9695:Vars1 UTSW 17 35,231,564 (GRCm39) missense possibly damaging 0.82
Z1177:Vars1 UTSW 17 35,230,453 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGAAGTCTTGTTCCCGCTGATTTCG -3'
(R):5'- GGACTTGCTTAAGGCCACTTACCTG -3'

Sequencing Primer
(F):5'- GGCCTCCCTTAGAGAAGTTAATG -3'
(R):5'- gacaataccccacacccatag -3'
Posted On 2014-05-14