Incidental Mutation 'R1952:Qars1'
ID 217391
Institutional Source Beutler Lab
Gene Symbol Qars1
Ensembl Gene ENSMUSG00000032604
Gene Name glutaminyl-tRNA synthetase 1
Synonyms 1200016L19Rik, Qars, 1110018N24Rik
MMRRC Submission 039966-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R1952 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 108385204-108393140 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 108390380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 427 (R427H)
Ref Sequence ENSEMBL: ENSMUSP00000006838 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006838] [ENSMUST00000006851] [ENSMUST00000112155] [ENSMUST00000134939] [ENSMUST00000192932] [ENSMUST00000192819] [ENSMUST00000193258] [ENSMUST00000208581] [ENSMUST00000208177] [ENSMUST00000207862] [ENSMUST00000208214] [ENSMUST00000207790] [ENSMUST00000207810] [ENSMUST00000208162] [ENSMUST00000207947] [ENSMUST00000193348] [ENSMUST00000195513] [ENSMUST00000194045] [ENSMUST00000195563] [ENSMUST00000194385]
AlphaFold Q8BML9
Predicted Effect probably benign
Transcript: ENSMUST00000006838
AA Change: R427H

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000006838
Gene: ENSMUSG00000032604
AA Change: R427H

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: R403H
SMART Domains Protein: ENSMUSP00000122918
Gene: ENSMUSG00000032604
AA Change: R403H

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: R24H
SMART Domains Protein: ENSMUSP00000121146
Gene: ENSMUSG00000032604
AA Change: R24H

DomainStartEndE-ValueType
Pfam:tRNA-synt_1c 2 148 2.1e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192627
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192659
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144253
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154324
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141201
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192331
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192065
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141780
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137980
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: 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: 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 unknown
Transcript: ENSMUST00000207734
AA Change: R7H
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208102
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207126
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207062
Predicted Effect probably benign
Transcript: ENSMUST00000208581
Predicted Effect probably benign
Transcript: ENSMUST00000208177
Predicted Effect probably benign
Transcript: ENSMUST00000208962
Predicted Effect probably benign
Transcript: ENSMUST00000207862
Predicted Effect probably benign
Transcript: ENSMUST00000208074
Predicted Effect probably benign
Transcript: ENSMUST00000208214
Predicted Effect probably benign
Transcript: ENSMUST00000207790
Predicted Effect probably benign
Transcript: ENSMUST00000208506
Predicted Effect probably benign
Transcript: ENSMUST00000207810
Predicted Effect probably benign
Transcript: ENSMUST00000207713
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194743
Predicted Effect probably benign
Transcript: ENSMUST00000207180
Predicted Effect probably benign
Transcript: ENSMUST00000208162
Predicted Effect probably benign
Transcript: ENSMUST00000207947
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208069
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: 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: 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
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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024G13Rik A G 14: 32,110,293 (GRCm39) V6A possibly damaging Het
Accsl G T 2: 93,689,778 (GRCm39) H376Q probably damaging Het
Adgrg1 T C 8: 95,735,119 (GRCm39) probably null Het
Alyref C G 11: 120,486,758 (GRCm39) V168L probably damaging Het
Ankrd12 T C 17: 66,338,566 (GRCm39) D128G probably damaging Het
Bcl2l14 A G 6: 134,409,329 (GRCm39) Y301C probably damaging Het
Camsap3 A G 8: 3,654,789 (GRCm39) T804A probably damaging Het
Capn11 A T 17: 45,953,885 (GRCm39) W154R probably damaging Het
Cd44 T A 2: 102,683,432 (GRCm39) T201S probably damaging Het
Cers4 G A 8: 4,573,461 (GRCm39) W319* probably null Het
Col27a1 T A 4: 63,202,130 (GRCm39) probably null Het
Crnkl1 G A 2: 145,770,120 (GRCm39) A241V probably damaging Het
Cyp2c68 T C 19: 39,700,972 (GRCm39) Y282C probably benign Het
Dmd T A X: 82,874,123 (GRCm39) I1342N probably damaging Het
Dusp7 T A 9: 106,248,028 (GRCm39) C219S probably benign Het
Epha7 A G 4: 28,950,474 (GRCm39) N759S probably damaging Het
Fat1 T C 8: 45,486,963 (GRCm39) V3413A probably benign Het
Gls2 A G 10: 128,045,231 (GRCm39) H576R probably benign Het
Gm4884 G A 7: 40,693,671 (GRCm39) V547M probably benign Het
Hap1 A G 11: 100,243,105 (GRCm39) V174A probably damaging Het
Il12rb2 A G 6: 67,269,300 (GRCm39) S838P probably damaging Het
Ints8 T C 4: 11,221,150 (GRCm39) I742V probably benign Het
Katnal2 G T 18: 77,067,707 (GRCm39) S411R probably benign Het
Lrp1 A C 10: 127,403,300 (GRCm39) V2091G probably damaging Het
Mettl21c A T 1: 44,056,368 (GRCm39) D20E probably damaging Het
Mib1 A T 18: 10,812,077 (GRCm39) E991D possibly damaging Het
Mip T C 10: 128,061,772 (GRCm39) S8P possibly damaging Het
Mllt6 T C 11: 97,568,048 (GRCm39) S826P probably damaging Het
Mlst8 AT ATT 17: 24,696,987 (GRCm39) probably null Het
Myrfl C T 10: 116,658,716 (GRCm39) V414I probably benign Het
Nbeal1 T C 1: 60,273,999 (GRCm39) V409A probably damaging Het
Nin T A 12: 70,077,700 (GRCm39) Q1035L probably damaging Het
Nlgn1 T A 3: 25,490,464 (GRCm39) D421V probably damaging Het
Nlrp10 A G 7: 108,523,770 (GRCm39) V570A probably benign Het
Olfm3 A T 3: 114,895,589 (GRCm39) E157V probably null Het
Or8g24 T A 9: 38,989,580 (GRCm39) I154F probably benign Het
Or8g37 T C 9: 39,731,363 (GRCm39) S143P probably benign Het
Otud7a A G 7: 63,300,624 (GRCm39) D21G probably damaging Het
Pax2 A G 19: 44,777,271 (GRCm39) T155A probably benign Het
Pcf11 A T 7: 92,310,546 (GRCm39) S481T probably damaging Het
Prkab2 T C 3: 97,573,943 (GRCm39) V194A probably benign Het
Prl3a1 G A 13: 27,454,136 (GRCm39) G38E possibly damaging Het
Psmb8 T C 17: 34,419,884 (GRCm39) V246A probably damaging Het
Ptpn12 A T 5: 21,203,308 (GRCm39) V490E probably benign Het
Ptprm A T 17: 67,247,575 (GRCm39) S587T probably benign Het
R3hdml T C 2: 163,340,216 (GRCm39) F128L probably benign Het
Rapgef4 A G 2: 72,038,471 (GRCm39) M541V probably benign Het
Rhbdf1 G A 11: 32,164,277 (GRCm39) R234* probably null Het
Rufy1 A T 11: 50,297,233 (GRCm39) D406E probably benign Het
Satb1 A T 17: 52,047,173 (GRCm39) L683Q probably damaging Het
Satb2 T C 1: 56,938,229 (GRCm39) T132A probably damaging Het
Sbspon A G 1: 15,930,519 (GRCm39) S156P probably damaging Het
Shb A T 4: 45,458,347 (GRCm39) probably null Het
She A G 3: 89,756,792 (GRCm39) K282R possibly damaging Het
Slc25a13 A G 6: 6,152,482 (GRCm39) L85P probably damaging Het
Slc7a13 A T 4: 19,841,578 (GRCm39) H475L probably benign Het
Sorl1 C T 9: 41,957,920 (GRCm39) V575I probably benign Het
Spag9 T A 11: 93,988,184 (GRCm39) C833S possibly damaging Het
Speer2 A C 16: 69,654,052 (GRCm39) N232K probably damaging Het
Syncrip A T 9: 88,358,927 (GRCm39) M194K probably damaging Het
Sytl3 A C 17: 6,995,732 (GRCm39) T171P probably damaging Het
Taar7f T A 10: 23,925,747 (GRCm39) Y114N probably damaging Het
Tamalin T C 15: 101,122,381 (GRCm39) Y67H probably benign Het
Tap1 C G 17: 34,412,481 (GRCm39) P506R probably damaging Het
Tle6 T C 10: 81,431,319 (GRCm39) D212G possibly damaging Het
Trim80 G T 11: 115,332,155 (GRCm39) E116* probably null Het
Ttll4 A G 1: 74,726,718 (GRCm39) R745G probably damaging Het
Vdac2 A T 14: 21,887,947 (GRCm39) I85F possibly damaging Het
Vmn1r188 A G 13: 22,272,309 (GRCm39) R88G probably damaging Het
Washc2 T C 6: 116,232,052 (GRCm39) S821P possibly damaging Het
Wdhd1 T C 14: 47,507,647 (GRCm39) Y213C probably damaging Het
Wdr55 C A 18: 36,893,437 (GRCm39) P33Q probably damaging Het
Yrdc C T 4: 124,745,739 (GRCm39) A32V probably benign Het
Zfp608 T A 18: 55,030,851 (GRCm39) K1030* probably null Het
Zfp618 T A 4: 63,050,555 (GRCm39) probably null 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
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
R6029:Qars1 UTSW 9 108,390,889 (GRCm39) missense probably damaging 1.00
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'- AGAATCATTGCTGCTCTTTGAGG -3'
(R):5'- CGAGTGGGTAATGTGCTCAATG -3'

Sequencing Primer
(F):5'- TCCCAGAGGGCAGCTTG -3'
(R):5'- TGTGCTCAATGGAGTCACAC -3'
Posted On 2014-08-01