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: 0.962)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
SCOP:d1dgna_
|
7 |
48 |
3e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192819
|
SMART Domains |
Protein: ENSMUSP00000142027 Gene: ENSMUSG00000006673
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |