Incidental Mutation 'IGL02106:Vars2'
ID 280002
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vars2
Ensembl Gene ENSMUSG00000038838
Gene Name valyl-tRNA synthetase 2, mitochondrial
Synonyms Vars2l, 1190004I24Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02106
Quality Score
Status
Chromosome 17
Chromosomal Location 35966526-35978484 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 35975513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001565] [ENSMUST00000043674] [ENSMUST00000160734] [ENSMUST00000160752] [ENSMUST00000165144] [ENSMUST00000169093]
AlphaFold Q3U2A8
Predicted Effect probably benign
Transcript: ENSMUST00000001565
SMART Domains Protein: ENSMUSP00000001565
Gene: ENSMUSG00000001524

DomainStartEndE-ValueType
Pfam:Tfb2 22 375 6.4e-141 PFAM
PDB:3DOM|C 383 459 7e-13 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000043674
SMART Domains Protein: ENSMUSP00000047917
Gene: ENSMUSG00000038838

DomainStartEndE-ValueType
Pfam:tRNA-synt_1 112 736 3.3e-179 PFAM
Pfam:tRNA-synt_1g 141 221 2e-8 PFAM
Pfam:Anticodon_1 780 932 3.6e-32 PFAM
low complexity region 1005 1015 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160535
Predicted Effect probably benign
Transcript: ENSMUST00000160734
SMART Domains Protein: ENSMUSP00000124335
Gene: ENSMUSG00000001524

DomainStartEndE-ValueType
Pfam:Tfb2 22 375 1.9e-137 PFAM
PDB:3DOM|C 383 459 7e-13 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000160752
SMART Domains Protein: ENSMUSP00000124458
Gene: ENSMUSG00000001524

DomainStartEndE-ValueType
Pfam:Tfb2 22 160 6.4e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162927
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165787
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171536
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168885
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173162
Predicted Effect probably benign
Transcript: ENSMUST00000168922
SMART Domains Protein: ENSMUSP00000129196
Gene: ENSMUSG00000038838

DomainStartEndE-ValueType
Pfam:tRNA-synt_1 2 386 3e-105 PFAM
Pfam:Anticodon_1 430 566 8.2e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165144
Predicted Effect probably benign
Transcript: ENSMUST00000169093
SMART Domains Protein: ENSMUSP00000126794
Gene: ENSMUSG00000038838

DomainStartEndE-ValueType
Pfam:tRNA-synt_1 1 109 1.7e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164404
SMART Domains Protein: ENSMUSP00000126084
Gene: ENSMUSG00000038838

DomainStartEndE-ValueType
Pfam:tRNA-synt_1 1 201 1e-49 PFAM
Pfam:tRNA-synt_1g 68 172 4e-7 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial aminoacyl-tRNA synthetase, which catalyzes the attachment of valine to tRNA(Val) for mitochondrial translation. Mutations in this gene cause combined oxidative phosphorylation deficiency-20, and are also associated with early-onset mitochondrial encephalopathies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2014]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl9l A G 9: 44,420,496 (GRCm39) N1264D probably benign Het
Bmyc A G 2: 25,597,082 (GRCm39) K49E probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Ceacam2 A G 7: 25,230,166 (GRCm39) S147P probably benign Het
Cep152 G T 2: 125,444,856 (GRCm39) probably null Het
Cnbd1 G T 4: 18,894,993 (GRCm39) P250T possibly damaging Het
Col6a4 A G 9: 105,940,304 (GRCm39) C1209R possibly damaging Het
Coro1c T C 5: 113,990,334 (GRCm39) T116A probably benign Het
Ddx46 A G 13: 55,825,416 (GRCm39) probably benign Het
Dnaaf5 T C 5: 139,137,268 (GRCm39) I207T probably damaging Het
Erap1 A G 13: 74,794,758 (GRCm39) D139G probably benign Het
Fbxw22 A T 9: 109,231,087 (GRCm39) I121N possibly damaging Het
Fcmr T C 1: 130,802,872 (GRCm39) S162P probably benign Het
Gadl1 A G 9: 115,766,225 (GRCm39) probably benign Het
Gli2 T A 1: 118,764,465 (GRCm39) S1229C probably benign Het
Gm10717 A T 9: 3,026,287 (GRCm39) Y195F probably damaging Het
Gne T C 4: 44,037,306 (GRCm39) N692D probably damaging Het
Knl1 A G 2: 118,902,489 (GRCm39) T1397A possibly damaging Het
Lama3 C A 18: 12,601,371 (GRCm39) A1016E probably damaging Het
Lhfpl2 A G 13: 94,328,419 (GRCm39) D160G probably benign Het
Lmtk2 T A 5: 144,112,769 (GRCm39) V1163E probably benign Het
Lrrtm2 G T 18: 35,345,868 (GRCm39) S478* probably null Het
Nfatc2ip T C 7: 125,989,736 (GRCm39) probably null Het
Nlrp12 A G 7: 3,282,574 (GRCm39) I775T probably benign Het
Npr1 A G 3: 90,372,165 (GRCm39) F216L probably benign Het
Or4m1 A T 14: 50,557,617 (GRCm39) L225H probably damaging Het
Or5ac24 T A 16: 59,165,387 (GRCm39) N226Y probably benign Het
Or5b99 G T 19: 12,976,929 (GRCm39) S193I possibly damaging Het
Pkd1l1 C A 11: 8,783,800 (GRCm39) G2052C probably damaging Het
Ppp1r16b A G 2: 158,588,451 (GRCm39) N112S possibly damaging Het
Prr11 A G 11: 86,994,141 (GRCm39) probably benign Het
Scap A G 9: 110,210,724 (GRCm39) probably benign Het
Sirt1 C T 10: 63,171,608 (GRCm39) R191Q probably damaging Het
Slc38a6 A C 12: 73,397,320 (GRCm39) S321R possibly damaging Het
Sp140 T C 1: 85,570,940 (GRCm39) V460A probably benign Het
Spdye4c A T 2: 128,434,586 (GRCm39) K54N possibly damaging Het
Spta1 T A 1: 174,030,860 (GRCm39) N947K probably benign Het
Srgap1 A G 10: 121,621,598 (GRCm39) V965A possibly damaging Het
Tmem209 A C 6: 30,508,659 (GRCm39) probably null Het
Trim37 A T 11: 87,092,230 (GRCm39) K123* probably null Het
Trio T C 15: 27,744,244 (GRCm39) T2563A possibly damaging Het
Utrn A T 10: 12,289,717 (GRCm39) S734T possibly damaging Het
Xrn1 G A 9: 95,859,858 (GRCm39) E417K probably benign Het
Yeats2 T A 16: 20,011,970 (GRCm39) V515E possibly damaging Het
Other mutations in Vars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02320:Vars2 APN 17 35,971,346 (GRCm39) missense probably benign 0.07
IGL02580:Vars2 APN 17 35,971,777 (GRCm39) missense possibly damaging 0.50
IGL02691:Vars2 APN 17 35,971,140 (GRCm39) missense probably damaging 1.00
IGL03039:Vars2 APN 17 35,975,013 (GRCm39) missense probably damaging 1.00
PIT4445001:Vars2 UTSW 17 35,977,103 (GRCm39) nonsense probably null
R0079:Vars2 UTSW 17 35,970,048 (GRCm39) missense probably damaging 0.99
R0152:Vars2 UTSW 17 35,970,919 (GRCm39) missense probably damaging 1.00
R0346:Vars2 UTSW 17 35,975,756 (GRCm39) unclassified probably benign
R0426:Vars2 UTSW 17 35,975,476 (GRCm39) missense probably damaging 1.00
R0584:Vars2 UTSW 17 35,977,578 (GRCm39) missense possibly damaging 0.82
R0589:Vars2 UTSW 17 35,970,068 (GRCm39) missense probably benign
R0882:Vars2 UTSW 17 35,968,191 (GRCm39) missense probably benign 0.41
R1234:Vars2 UTSW 17 35,978,038 (GRCm39) missense probably damaging 1.00
R1263:Vars2 UTSW 17 35,972,501 (GRCm39) missense probably damaging 1.00
R1559:Vars2 UTSW 17 35,977,150 (GRCm39) unclassified probably benign
R1772:Vars2 UTSW 17 35,970,976 (GRCm39) missense probably damaging 1.00
R1809:Vars2 UTSW 17 35,973,108 (GRCm39) missense probably damaging 1.00
R1913:Vars2 UTSW 17 35,977,814 (GRCm39) missense probably benign 0.02
R1986:Vars2 UTSW 17 35,970,953 (GRCm39) missense probably damaging 1.00
R2504:Vars2 UTSW 17 35,975,685 (GRCm39) missense probably damaging 1.00
R3426:Vars2 UTSW 17 35,972,866 (GRCm39) missense probably damaging 1.00
R4539:Vars2 UTSW 17 35,977,780 (GRCm39) missense probably damaging 0.99
R4751:Vars2 UTSW 17 35,970,235 (GRCm39) missense possibly damaging 0.89
R4861:Vars2 UTSW 17 35,972,825 (GRCm39) missense probably benign 0.00
R4861:Vars2 UTSW 17 35,972,825 (GRCm39) missense probably benign 0.00
R5028:Vars2 UTSW 17 35,970,365 (GRCm39) critical splice donor site probably null
R5217:Vars2 UTSW 17 35,969,041 (GRCm39) missense probably damaging 1.00
R5292:Vars2 UTSW 17 35,971,678 (GRCm39) missense probably damaging 1.00
R6056:Vars2 UTSW 17 35,976,680 (GRCm39) missense probably benign 0.01
R6211:Vars2 UTSW 17 35,976,554 (GRCm39) splice site probably null
R6213:Vars2 UTSW 17 35,971,332 (GRCm39) missense probably benign 0.27
R6374:Vars2 UTSW 17 35,970,937 (GRCm39) missense probably damaging 1.00
R6746:Vars2 UTSW 17 35,971,294 (GRCm39) critical splice donor site probably null
R6749:Vars2 UTSW 17 35,977,605 (GRCm39) missense probably damaging 1.00
R6957:Vars2 UTSW 17 35,977,967 (GRCm39) missense probably benign 0.39
R7107:Vars2 UTSW 17 35,969,142 (GRCm39) missense probably damaging 1.00
R7428:Vars2 UTSW 17 35,977,578 (GRCm39) missense probably benign 0.00
R7538:Vars2 UTSW 17 35,971,672 (GRCm39) missense probably damaging 1.00
R7553:Vars2 UTSW 17 35,975,680 (GRCm39) missense possibly damaging 0.93
R7741:Vars2 UTSW 17 35,971,835 (GRCm39) missense probably damaging 1.00
R7784:Vars2 UTSW 17 35,969,050 (GRCm39) missense possibly damaging 0.95
R7823:Vars2 UTSW 17 35,970,028 (GRCm39) missense probably damaging 1.00
R7915:Vars2 UTSW 17 35,975,731 (GRCm39) missense probably damaging 1.00
R8201:Vars2 UTSW 17 35,969,202 (GRCm39) missense probably benign
R8955:Vars2 UTSW 17 35,972,541 (GRCm39) missense probably damaging 1.00
R8964:Vars2 UTSW 17 35,970,699 (GRCm39) missense possibly damaging 0.46
R9101:Vars2 UTSW 17 35,969,980 (GRCm39) missense possibly damaging 0.51
R9202:Vars2 UTSW 17 35,977,551 (GRCm39) missense probably damaging 1.00
R9202:Vars2 UTSW 17 35,974,444 (GRCm39) critical splice acceptor site probably null
R9450:Vars2 UTSW 17 35,973,027 (GRCm39) missense probably damaging 0.98
X0021:Vars2 UTSW 17 35,969,926 (GRCm39) missense possibly damaging 0.93
Z1176:Vars2 UTSW 17 35,975,683 (GRCm39) missense possibly damaging 0.55
Z1177:Vars2 UTSW 17 35,974,364 (GRCm39) missense probably benign 0.17
Posted On 2015-04-16