Incidental Mutation 'R6029:Qars1'
ID 480274
Institutional Source Beutler Lab
Gene Symbol Qars1
Ensembl Gene ENSMUSG00000032604
Gene Name glutaminyl-tRNA synthetase 1
Synonyms 1200016L19Rik, Qars, 1110018N24Rik
MMRRC Submission 044201-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R6029 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 108385204-108393140 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 108390889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 470 (L470F)
Ref Sequence ENSEMBL: ENSMUSP00000006838 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006838] [ENSMUST00000006851] [ENSMUST00000112155] [ENSMUST00000134939] [ENSMUST00000193258] [ENSMUST00000192819] [ENSMUST00000192932] [ENSMUST00000208214] [ENSMUST00000208177] [ENSMUST00000207862] [ENSMUST00000208581] [ENSMUST00000207790] [ENSMUST00000207810] [ENSMUST00000208162] [ENSMUST00000207947] [ENSMUST00000195513] [ENSMUST00000194045] [ENSMUST00000193348] [ENSMUST00000194385] [ENSMUST00000195563]
AlphaFold Q8BML9
Predicted Effect probably damaging
Transcript: ENSMUST00000006838
AA Change: L470F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006838
Gene: ENSMUSG00000032604
AA Change: L470F

DomainStartEndE-ValueType
Pfam:tRNA_synt_1c_R1 4 162 1.2e-54 PFAM
Pfam:tRNA_synt_1c_R2 165 256 6.5e-31 PFAM
Pfam:tRNA-synt_1c 263 563 4.5e-119 PFAM
Pfam:tRNA-synt_1c_C 565 752 6.9e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000006851
SMART Domains Protein: ENSMUSP00000006851
Gene: ENSMUSG00000006673

DomainStartEndE-ValueType
low complexity region 79 123 N/A INTRINSIC
low complexity region 128 146 N/A INTRINSIC
low complexity region 150 192 N/A INTRINSIC
low complexity region 419 443 N/A INTRINSIC
low complexity region 457 478 N/A INTRINSIC
Pfam:DUF3504 597 761 1.8e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112155
SMART Domains Protein: ENSMUSP00000107782
Gene: ENSMUSG00000006673

DomainStartEndE-ValueType
low complexity region 79 123 N/A INTRINSIC
low complexity region 128 146 N/A INTRINSIC
low complexity region 150 192 N/A INTRINSIC
low complexity region 419 443 N/A INTRINSIC
low complexity region 457 478 N/A INTRINSIC
Pfam:DUF3504 600 760 2.3e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131005
Predicted Effect unknown
Transcript: ENSMUST00000134939
AA Change: L446F
SMART Domains Protein: ENSMUSP00000122918
Gene: ENSMUSG00000032604
AA Change: L446F

DomainStartEndE-ValueType
Pfam:tRNA_synt_1c_R1 1 163 1.1e-55 PFAM
Pfam:tRNA_synt_1c_R2 164 256 6.9e-31 PFAM
Pfam:tRNA-synt_1c 263 563 2.5e-115 PFAM
Pfam:tRNA-synt_1c_C 565 720 5.7e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136293
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137655
Predicted Effect unknown
Transcript: ENSMUST00000141903
AA Change: L67F
SMART Domains Protein: ENSMUSP00000121146
Gene: ENSMUSG00000032604
AA Change: L67F

DomainStartEndE-ValueType
Pfam:tRNA-synt_1c 2 148 2.1e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141201
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192331
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192065
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144253
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192627
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192659
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154324
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141780
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137980
Predicted Effect probably benign
Transcript: ENSMUST00000193258
SMART Domains Protein: ENSMUSP00000141267
Gene: ENSMUSG00000006673

DomainStartEndE-ValueType
SCOP:d1dgna_ 7 48 9e-3 SMART
low complexity region 79 123 N/A INTRINSIC
low complexity region 128 146 N/A INTRINSIC
low complexity region 150 192 N/A INTRINSIC
low complexity region 419 443 N/A INTRINSIC
low complexity region 457 478 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192819
SMART Domains Protein: ENSMUSP00000142027
Gene: ENSMUSG00000006673

DomainStartEndE-ValueType
SCOP:d1dgna_ 7 48 1e-3 SMART
low complexity region 85 95 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192932
SMART Domains Protein: ENSMUSP00000141215
Gene: ENSMUSG00000006673

DomainStartEndE-ValueType
SCOP:d1dgna_ 7 48 3e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000208214
Predicted Effect probably benign
Transcript: ENSMUST00000208177
Predicted Effect probably benign
Transcript: ENSMUST00000208506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207126
Predicted Effect probably benign
Transcript: ENSMUST00000207862
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207062
Predicted Effect probably benign
Transcript: ENSMUST00000208581
Predicted Effect probably benign
Transcript: ENSMUST00000208962
Predicted Effect probably benign
Transcript: ENSMUST00000207734
Predicted Effect probably benign
Transcript: ENSMUST00000207790
Predicted Effect probably benign
Transcript: ENSMUST00000208074
Predicted Effect probably benign
Transcript: ENSMUST00000207810
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208102
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194743
Predicted Effect probably benign
Transcript: ENSMUST00000208162
Predicted Effect probably benign
Transcript: ENSMUST00000207947
Predicted Effect probably benign
Transcript: ENSMUST00000207180
Predicted Effect probably benign
Transcript: ENSMUST00000207713
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208069
Predicted Effect probably benign
Transcript: ENSMUST00000195513
SMART Domains Protein: ENSMUSP00000142025
Gene: ENSMUSG00000006673

DomainStartEndE-ValueType
SCOP:d1dgna_ 7 48 3e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000194045
Predicted Effect probably benign
Transcript: ENSMUST00000193348
SMART Domains Protein: ENSMUSP00000141691
Gene: ENSMUSG00000006673

DomainStartEndE-ValueType
SCOP:d1dgna_ 7 48 1e-3 SMART
low complexity region 80 96 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194385
SMART Domains Protein: ENSMUSP00000142211
Gene: ENSMUSG00000006673

DomainStartEndE-ValueType
SCOP:d1cy5a_ 9 45 8e-3 SMART
low complexity region 79 134 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000195563
SMART Domains Protein: ENSMUSP00000141716
Gene: ENSMUSG00000006673

DomainStartEndE-ValueType
SCOP:d1dgna_ 7 48 9e-3 SMART
low complexity region 79 123 N/A INTRINSIC
low complexity region 128 146 N/A INTRINSIC
low complexity region 150 192 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.7%
Validation Efficiency 97% (87/90)
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik G A 2: 68,524,370 (GRCm39) probably null Het
Adi1 G A 12: 28,729,318 (GRCm39) probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Apob A G 12: 8,066,243 (GRCm39) E4371G probably damaging Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Aspm T G 1: 139,408,728 (GRCm39) C2538W possibly damaging Het
Brd10 A G 19: 29,732,367 (GRCm39) probably benign Het
Btbd16 T C 7: 130,420,802 (GRCm39) V353A probably benign Het
Cad C T 5: 31,212,327 (GRCm39) S10L possibly damaging Het
Cdc42bpa T C 1: 179,939,352 (GRCm39) S877P probably damaging Het
Cep152 A T 2: 125,405,552 (GRCm39) V1660D probably benign Het
Clrn2 G T 5: 45,617,528 (GRCm39) G133V probably damaging Het
Clstn2 T C 9: 97,338,634 (GRCm39) I842V probably benign Het
Cpt1c C T 7: 44,614,548 (GRCm39) A434T probably benign Het
D130052B06Rik G T 11: 33,573,477 (GRCm39) V70L possibly damaging Het
Dlg1 T A 16: 31,612,388 (GRCm39) V317E probably damaging Het
Dock10 T C 1: 80,514,663 (GRCm39) E1084G possibly damaging Het
Dync2h1 A G 9: 7,157,646 (GRCm39) V827A probably benign Het
E030030I06Rik A G 10: 22,024,832 (GRCm39) L27P unknown Het
Ero1b T A 13: 12,589,714 (GRCm39) L39Q probably damaging Het
Erp27 T C 6: 136,888,609 (GRCm39) D123G probably damaging Het
Fasn G T 11: 120,711,735 (GRCm39) F148L probably damaging Het
Fbxl5 T C 5: 43,922,746 (GRCm39) E218G probably damaging Het
Fbxw28 A T 9: 109,158,493 (GRCm39) D210E probably damaging Het
Gm10653 T A 9: 62,748,796 (GRCm39) probably benign Het
Gm17067 A G 7: 42,357,554 (GRCm39) L316S probably benign Het
Gm29106 T C 1: 118,127,990 (GRCm39) S561P probably damaging Het
Hmcn1 C A 1: 150,508,188 (GRCm39) K3699N probably benign Het
Itch T A 2: 155,021,009 (GRCm39) probably null Het
Itpr3 C T 17: 27,317,145 (GRCm39) A800V probably damaging Het
Kdm2b A T 5: 123,017,650 (GRCm39) M1052K probably damaging Het
Kdm4b T C 17: 56,703,576 (GRCm39) M712T probably damaging Het
Kmt5b A G 19: 3,852,104 (GRCm39) E137G probably damaging Het
Krt33a G A 11: 99,903,289 (GRCm39) T251I probably benign Het
Lrrc4b G T 7: 44,111,754 (GRCm39) R542L probably benign Het
Macf1 C A 4: 123,401,126 (GRCm39) S653I probably damaging Het
Macrod2 G A 2: 142,160,367 (GRCm39) V408M probably damaging Het
Macroh2a2 T C 10: 61,583,541 (GRCm39) T200A possibly damaging Het
Mapkapk3 G T 9: 107,166,425 (GRCm39) A40E possibly damaging Het
Mmp20 G A 9: 7,639,302 (GRCm39) V157I probably benign Het
Mrps28 T C 3: 8,988,805 (GRCm39) R18G possibly damaging Het
Msrb2 T A 2: 19,399,122 (GRCm39) C162S probably damaging Het
Naa80 A G 9: 107,460,753 (GRCm39) Y216C probably damaging Het
Nckap5 T G 1: 125,953,523 (GRCm39) T1078P possibly damaging Het
Nectin3 T C 16: 46,256,763 (GRCm39) Y91C probably benign Het
Nf2 G T 11: 4,734,566 (GRCm39) probably null Het
Or10d1b G A 9: 39,613,696 (GRCm39) A123V probably damaging Het
Or13a23-ps1 A T 7: 140,118,789 (GRCm39) M120L unknown Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2y10 A T 11: 49,455,428 (GRCm39) I227F possibly damaging Het
Or4c29 T C 2: 88,740,380 (GRCm39) D119G probably damaging Het
Or4g7 T A 2: 111,309,310 (GRCm39) Y60* probably null Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Oxr1 T G 15: 41,689,297 (GRCm39) L507W probably damaging Het
Plxna2 A T 1: 194,481,883 (GRCm39) K1451M probably damaging Het
Plxna2 A G 1: 194,476,735 (GRCm39) M1184V probably benign Het
Pofut1 G A 2: 153,101,713 (GRCm39) probably null Het
Ppp1r16b T C 2: 158,597,137 (GRCm39) V257A possibly damaging Het
Prss56 G A 1: 87,115,279 (GRCm39) W498* probably null Het
Ptpru A G 4: 131,498,604 (GRCm39) F1329S probably damaging Het
Pusl1 A G 4: 155,973,920 (GRCm39) F278S probably damaging Het
Rbm8a2 T C 1: 175,806,312 (GRCm39) D55G probably benign Het
Rora T A 9: 69,271,734 (GRCm39) N181K probably benign Het
Rufy3 A G 5: 88,775,114 (GRCm39) D262G probably damaging Het
Sh3gl2 G A 4: 85,299,651 (GRCm39) V212M probably damaging Het
Sis G A 3: 72,835,641 (GRCm39) T907I probably benign Het
Slc38a3 A T 9: 107,529,374 (GRCm39) I456N probably damaging Het
Slc4a8 T A 15: 100,705,220 (GRCm39) C809S probably benign Het
Snap91 A T 9: 86,707,133 (GRCm39) probably null Het
Spaca6 A G 17: 18,051,458 (GRCm39) T45A probably benign Het
Speer1m A T 5: 11,970,680 (GRCm39) L84F probably damaging Het
Spry1 T C 3: 37,696,997 (GRCm39) I80T possibly damaging Het
St8sia2 A G 7: 73,610,458 (GRCm39) L275P possibly damaging Het
Supt7l C A 5: 31,684,331 (GRCm39) probably null Het
Tdo2 T A 3: 81,868,747 (GRCm39) K304N probably damaging Het
Tdrd12 A T 7: 35,184,655 (GRCm39) Y753N probably damaging Het
Topbp1 A T 9: 103,222,152 (GRCm39) Q1341L probably benign Het
Trim14 G T 4: 46,506,998 (GRCm39) A406E probably benign Het
Trp63 C T 16: 25,686,964 (GRCm39) R393W probably damaging Het
Trrap T C 5: 144,754,489 (GRCm39) V1932A possibly damaging Het
Trrap T C 5: 144,762,724 (GRCm39) M2399T possibly damaging Het
Unc45b A G 11: 82,804,153 (GRCm39) N110S probably damaging Het
Usp32 G T 11: 84,916,408 (GRCm39) H845Q probably damaging Het
Usp44 G A 10: 93,682,494 (GRCm39) D268N probably damaging Het
Vmn1r18 T G 6: 57,367,451 (GRCm39) R34S possibly damaging Het
Vmn2r103 T A 17: 20,014,478 (GRCm39) Y423* probably null Het
Wapl A T 14: 34,461,204 (GRCm39) E1054V possibly damaging Het
Zbtb8b A G 4: 129,322,286 (GRCm39) Y392H probably damaging Het
Zdhhc2 A T 8: 40,925,968 (GRCm39) Q321L probably null Het
Zfp983 A G 17: 21,881,401 (GRCm39) D443G probably benign Het
Other mutations in Qars1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01570:Qars1 APN 9 108,388,738 (GRCm39) missense probably damaging 1.00
IGL02336:Qars1 APN 9 108,392,185 (GRCm39) nonsense probably null
IGL02393:Qars1 APN 9 108,391,528 (GRCm39) missense probably benign 0.00
IGL03102:Qars1 APN 9 108,386,118 (GRCm39) missense probably benign 0.35
R0576:Qars1 UTSW 9 108,392,161 (GRCm39) intron probably benign
R1777:Qars1 UTSW 9 108,385,400 (GRCm39) critical splice donor site probably null
R1824:Qars1 UTSW 9 108,391,809 (GRCm39) missense probably damaging 1.00
R1871:Qars1 UTSW 9 108,391,315 (GRCm39) splice site probably null
R1897:Qars1 UTSW 9 108,391,282 (GRCm39) nonsense probably null
R1952:Qars1 UTSW 9 108,390,380 (GRCm39) missense probably benign 0.35
R1981:Qars1 UTSW 9 108,392,227 (GRCm39) missense probably damaging 1.00
R2172:Qars1 UTSW 9 108,386,399 (GRCm39) missense probably damaging 1.00
R2698:Qars1 UTSW 9 108,385,642 (GRCm39) missense possibly damaging 0.65
R4381:Qars1 UTSW 9 108,387,382 (GRCm39) unclassified probably benign
R4608:Qars1 UTSW 9 108,386,625 (GRCm39) splice site probably null
R4677:Qars1 UTSW 9 108,386,889 (GRCm39) unclassified probably benign
R4974:Qars1 UTSW 9 108,386,130 (GRCm39) missense probably damaging 1.00
R5234:Qars1 UTSW 9 108,391,364 (GRCm39) missense probably damaging 1.00
R5548:Qars1 UTSW 9 108,390,117 (GRCm39) missense possibly damaging 0.72
R5817:Qars1 UTSW 9 108,387,441 (GRCm39) unclassified probably benign
R6110:Qars1 UTSW 9 108,385,297 (GRCm39) missense probably benign 0.02
R6889:Qars1 UTSW 9 108,390,382 (GRCm39) missense probably damaging 0.98
R7034:Qars1 UTSW 9 108,391,976 (GRCm39) missense probably damaging 1.00
R7036:Qars1 UTSW 9 108,391,976 (GRCm39) missense probably damaging 1.00
R7136:Qars1 UTSW 9 108,389,971 (GRCm39) missense probably damaging 1.00
R7178:Qars1 UTSW 9 108,392,322 (GRCm39) missense possibly damaging 0.50
R7192:Qars1 UTSW 9 108,388,760 (GRCm39) missense probably damaging 1.00
R7235:Qars1 UTSW 9 108,387,331 (GRCm39) missense probably damaging 1.00
R7813:Qars1 UTSW 9 108,386,670 (GRCm39) missense probably damaging 1.00
R8248:Qars1 UTSW 9 108,386,651 (GRCm39) missense probably benign 0.00
R8558:Qars1 UTSW 9 108,392,422 (GRCm39) missense probably benign
R9126:Qars1 UTSW 9 108,386,399 (GRCm39) missense probably damaging 1.00
R9245:Qars1 UTSW 9 108,386,132 (GRCm39) nonsense probably null
R9632:Qars1 UTSW 9 108,391,582 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGTACCAAGGAGTTCCAGGC -3'
(R):5'- CCCTTTGGATAAGAGGGTGGTC -3'

Sequencing Primer
(F):5'- CAACTTGTGGAAGTCAGCTTTC -3'
(R):5'- TGGTCAGAAGATCTTAAACAGCAC -3'
Posted On 2017-06-26