Incidental Mutation 'R5817:Qars1'
ID |
449110 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Qars1
|
Ensembl Gene |
ENSMUSG00000032604 |
Gene Name |
glutaminyl-tRNA synthetase 1 |
Synonyms |
1200016L19Rik, Qars, 1110018N24Rik |
MMRRC Submission |
043397-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.962)
|
Stock # |
R5817 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
108385204-108393140 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to T
at 108387441 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006838]
[ENSMUST00000134939]
[ENSMUST00000194045]
[ENSMUST00000208162]
[ENSMUST00000207947]
[ENSMUST00000208177]
[ENSMUST00000208214]
[ENSMUST00000207862]
[ENSMUST00000208581]
[ENSMUST00000207790]
[ENSMUST00000207810]
|
AlphaFold |
Q8BML9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006838
|
SMART Domains |
Protein: ENSMUSP00000006838 Gene: ENSMUSG00000032604
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 |
noncoding transcript
Transcript: ENSMUST00000131005
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134939
|
SMART Domains |
Protein: ENSMUSP00000122918 Gene: ENSMUSG00000032604
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 |
noncoding transcript
Transcript: ENSMUST00000137980
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144253
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141201
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192627
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192659
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154324
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154311
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207126
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207062
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141780
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192065
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194045
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141903
|
SMART Domains |
Protein: ENSMUSP00000121146 Gene: ENSMUSG00000032604
Domain | Start | End | E-Value | Type |
Pfam:tRNA-synt_1c
|
2 |
148 |
2.1e-50 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208162
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207947
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208074
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208177
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208962
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207180
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208214
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208102
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207713
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207862
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208069
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208581
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207734
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207790
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208506
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207810
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
Validation Efficiency |
100% (71/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4 |
A |
G |
4: 144,349,497 (GRCm39) |
I251M |
probably benign |
Het |
Abcf3 |
T |
C |
16: 20,367,833 (GRCm39) |
V63A |
possibly damaging |
Het |
Agpat4 |
C |
T |
17: 12,434,097 (GRCm39) |
|
probably benign |
Het |
Ahcyl2 |
G |
A |
6: 29,890,720 (GRCm39) |
V292M |
probably damaging |
Het |
Ahnak2 |
A |
T |
12: 112,740,437 (GRCm39) |
F406I |
probably damaging |
Het |
Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
Arhgef5 |
G |
A |
6: 43,252,038 (GRCm39) |
D930N |
probably benign |
Het |
Cc2d2a |
G |
A |
5: 43,869,760 (GRCm39) |
R887Q |
probably damaging |
Het |
Ceacam18 |
A |
G |
7: 43,291,265 (GRCm39) |
T236A |
probably benign |
Het |
Chst15 |
A |
T |
7: 131,870,873 (GRCm39) |
Y221N |
probably damaging |
Het |
Chst15 |
G |
A |
7: 131,870,876 (GRCm39) |
L220F |
probably damaging |
Het |
Cntn2 |
G |
A |
1: 132,446,486 (GRCm39) |
T784I |
probably benign |
Het |
D630003M21Rik |
A |
G |
2: 158,038,413 (GRCm39) |
L1011P |
probably damaging |
Het |
Dync2h1 |
T |
A |
9: 6,996,905 (GRCm39) |
D3894V |
probably damaging |
Het |
Eif1ad19 |
G |
T |
12: 87,740,201 (GRCm39) |
D119E |
probably benign |
Het |
Fam13b |
T |
C |
18: 34,590,850 (GRCm39) |
M443V |
possibly damaging |
Het |
Fam20a |
T |
A |
11: 109,564,244 (GRCm39) |
Q503L |
possibly damaging |
Het |
Ftdc2 |
T |
C |
16: 58,457,156 (GRCm39) |
I89V |
probably benign |
Het |
Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
Gm5454 |
T |
A |
13: 103,493,140 (GRCm39) |
|
noncoding transcript |
Het |
Gm5581 |
A |
G |
6: 131,144,132 (GRCm39) |
|
noncoding transcript |
Het |
Gm6619 |
A |
G |
6: 131,463,400 (GRCm39) |
I6V |
unknown |
Het |
Gmcl1 |
A |
G |
6: 86,691,230 (GRCm39) |
M255T |
probably damaging |
Het |
Golm2 |
T |
A |
2: 121,736,525 (GRCm39) |
S231T |
probably benign |
Het |
Gprc5c |
T |
A |
11: 114,754,450 (GRCm39) |
C42* |
probably null |
Het |
Hmcn1 |
T |
A |
1: 150,613,275 (GRCm39) |
E1384V |
possibly damaging |
Het |
Il6 |
A |
G |
5: 30,223,006 (GRCm39) |
I91V |
probably benign |
Het |
Kmt2d |
A |
T |
15: 98,760,244 (GRCm39) |
S1005T |
unknown |
Het |
Map1a |
A |
T |
2: 121,129,391 (GRCm39) |
H143L |
possibly damaging |
Het |
Mical2 |
A |
T |
7: 111,922,866 (GRCm39) |
T624S |
probably benign |
Het |
Msh3 |
A |
T |
13: 92,422,508 (GRCm39) |
N549K |
possibly damaging |
Het |
Ncr1 |
T |
A |
7: 4,343,894 (GRCm39) |
I164N |
possibly damaging |
Het |
Or10ak11 |
T |
G |
4: 118,687,296 (GRCm39) |
T115P |
probably damaging |
Het |
Or51a5 |
A |
T |
7: 102,771,115 (GRCm39) |
M292K |
possibly damaging |
Het |
Or52m1 |
A |
G |
7: 102,289,585 (GRCm39) |
N44S |
probably damaging |
Het |
Or8d2b |
A |
G |
9: 38,788,673 (GRCm39) |
D67G |
probably damaging |
Het |
Palmd |
T |
C |
3: 116,712,272 (GRCm39) |
I541M |
probably benign |
Het |
Pcsk7 |
A |
T |
9: 45,837,331 (GRCm39) |
M552L |
probably benign |
Het |
Plekhh2 |
A |
G |
17: 84,879,154 (GRCm39) |
E626G |
possibly damaging |
Het |
Pole |
G |
A |
5: 110,460,838 (GRCm39) |
D1176N |
probably damaging |
Het |
Polr2f |
T |
C |
15: 79,035,869 (GRCm39) |
I110T |
probably damaging |
Het |
Pomt1 |
A |
T |
2: 32,138,691 (GRCm39) |
I436F |
probably damaging |
Het |
Prag1 |
A |
C |
8: 36,570,857 (GRCm39) |
Q480P |
probably damaging |
Het |
Ralgapa2 |
G |
A |
2: 146,175,406 (GRCm39) |
S1797L |
probably damaging |
Het |
Rbm26 |
T |
C |
14: 105,366,039 (GRCm39) |
T832A |
probably damaging |
Het |
Rnf169 |
A |
G |
7: 99,574,976 (GRCm39) |
S540P |
probably benign |
Het |
Serpini1 |
T |
A |
3: 75,520,631 (GRCm39) |
M76K |
probably benign |
Het |
Shq1 |
A |
G |
6: 100,550,681 (GRCm39) |
L419S |
probably damaging |
Het |
Slc25a17 |
G |
A |
15: 81,211,261 (GRCm39) |
T225M |
probably damaging |
Het |
Slc6a5 |
C |
A |
7: 49,606,239 (GRCm39) |
L716I |
probably benign |
Het |
Smc1b |
A |
G |
15: 84,951,984 (GRCm39) |
V1149A |
probably damaging |
Het |
Trappc1 |
A |
T |
11: 69,215,060 (GRCm39) |
Q26L |
possibly damaging |
Het |
Trpm2 |
C |
A |
10: 77,801,814 (GRCm39) |
G84W |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,573,010 (GRCm39) |
T24215M |
probably damaging |
Het |
Ubn2 |
C |
A |
6: 38,456,088 (GRCm39) |
T337K |
probably damaging |
Het |
Ubr4 |
A |
G |
4: 139,196,158 (GRCm39) |
K1265E |
probably damaging |
Het |
Vmn1r214 |
T |
G |
13: 23,219,491 (GRCm39) |
I328M |
probably damaging |
Het |
Xcr1 |
C |
T |
9: 123,684,922 (GRCm39) |
C280Y |
possibly damaging |
Het |
Zc3h13 |
A |
G |
14: 75,565,572 (GRCm39) |
E895G |
probably damaging |
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 |
|
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 |
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'- CTTGAGAGAGTACACCCTTGTCTG -3'
(R):5'- TCGCAGTCATGAGAATACGG -3'
Sequencing Primer
(F):5'- AGAGTACACCCTTGTCTGTATCTATC -3'
(R):5'- CCCGAGAAGTCTGTATGTAAGGTCC -3'
|
Posted On |
2016-12-20 |