Incidental Mutation 'R4608:Qars1'
ID |
377703 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Qars1
|
Ensembl Gene |
ENSMUSG00000032604 |
Gene Name |
glutaminyl-tRNA synthetase 1 |
Synonyms |
1200016L19Rik, Qars, 1110018N24Rik |
MMRRC Submission |
041819-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.962)
|
Stock # |
R4608 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
108385204-108393140 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 108386625 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146436
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006838]
[ENSMUST00000134939]
[ENSMUST00000194045]
[ENSMUST00000208581]
[ENSMUST00000208581]
[ENSMUST00000208214]
[ENSMUST00000207810]
[ENSMUST00000207810]
[ENSMUST00000207862]
[ENSMUST00000207862]
[ENSMUST00000207947]
[ENSMUST00000208162]
[ENSMUST00000207790]
[ENSMUST00000208177]
|
AlphaFold |
Q8BML9 |
Predicted Effect |
probably null
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 null
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: ENSMUST00000137655
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137980
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141201
|
Predicted Effect |
probably null
Transcript: ENSMUST00000207713
|
Predicted Effect |
probably null
Transcript: ENSMUST00000207713
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144253
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154324
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207126
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192627
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192659
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207062
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154311
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207180
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141780
|
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 null
Transcript: ENSMUST00000208581
|
Predicted Effect |
probably null
Transcript: ENSMUST00000208581
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208214
|
Predicted Effect |
probably null
Transcript: ENSMUST00000207810
|
Predicted Effect |
probably null
Transcript: ENSMUST00000207810
|
Predicted Effect |
probably null
Transcript: ENSMUST00000207862
|
Predicted Effect |
probably null
Transcript: ENSMUST00000207862
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208069
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207947
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208162
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208102
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207790
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208506
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207734
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208074
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208177
|
Meta Mutation Damage Score |
0.8617 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
100% (80/80) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930022D16Rik |
A |
G |
11: 109,308,855 (GRCm39) |
I74V |
unknown |
Het |
Acss3 |
T |
A |
10: 106,802,890 (GRCm39) |
I452F |
possibly damaging |
Het |
Adam10 |
T |
C |
9: 70,651,173 (GRCm39) |
L66P |
probably damaging |
Het |
Adamts18 |
A |
T |
8: 114,464,245 (GRCm39) |
C738S |
probably damaging |
Het |
Adamts7 |
T |
G |
9: 90,056,593 (GRCm39) |
S221A |
probably damaging |
Het |
Adrm1 |
A |
G |
2: 179,816,648 (GRCm39) |
|
probably benign |
Het |
Aqp1 |
T |
C |
6: 55,313,624 (GRCm39) |
V50A |
possibly damaging |
Het |
Aqp4 |
T |
C |
18: 15,531,183 (GRCm39) |
I193V |
probably benign |
Het |
B130006D01Rik |
A |
T |
11: 95,617,066 (GRCm39) |
|
probably benign |
Het |
Bbs10 |
T |
G |
10: 111,136,681 (GRCm39) |
I598S |
probably damaging |
Het |
Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
Ccdc121rt2 |
A |
G |
5: 112,597,764 (GRCm39) |
S104G |
possibly damaging |
Het |
Ccnl1 |
C |
T |
3: 65,854,131 (GRCm39) |
|
probably benign |
Het |
Crocc2 |
G |
A |
1: 93,096,516 (GRCm39) |
V24M |
possibly damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dcdc2a |
T |
A |
13: 25,245,223 (GRCm39) |
L100* |
probably null |
Het |
Eif4g3 |
G |
T |
4: 137,853,769 (GRCm39) |
R618L |
probably benign |
Het |
F5 |
C |
T |
1: 164,036,598 (GRCm39) |
P1920S |
probably benign |
Het |
Fam187b |
T |
A |
7: 30,677,170 (GRCm39) |
N226K |
probably benign |
Het |
Fancc |
C |
A |
13: 63,479,637 (GRCm39) |
|
probably benign |
Het |
Fastk |
G |
T |
5: 24,648,117 (GRCm39) |
P233H |
probably damaging |
Het |
Fbn1 |
A |
C |
2: 125,148,420 (GRCm39) |
D2609E |
probably benign |
Het |
Fes |
G |
A |
7: 80,036,959 (GRCm39) |
R42W |
probably damaging |
Het |
Fmnl2 |
T |
A |
2: 52,993,728 (GRCm39) |
N374K |
possibly damaging |
Het |
Fpgt |
G |
A |
3: 154,792,333 (GRCm39) |
Q565* |
probably null |
Het |
Gckr |
A |
G |
5: 31,465,141 (GRCm39) |
D370G |
probably damaging |
Het |
Ggt6 |
T |
C |
11: 72,328,769 (GRCm39) |
M385T |
probably benign |
Het |
Gm26657 |
C |
A |
4: 56,741,114 (GRCm39) |
H100N |
probably benign |
Het |
Gsg1l |
T |
A |
7: 125,557,721 (GRCm39) |
I136F |
probably damaging |
Het |
Hhip |
C |
T |
8: 80,724,192 (GRCm39) |
R350Q |
probably damaging |
Het |
Ints1 |
C |
T |
5: 139,745,599 (GRCm39) |
S1353N |
probably benign |
Het |
Ints10 |
G |
A |
8: 69,263,271 (GRCm39) |
R394Q |
probably damaging |
Het |
Ints6 |
T |
G |
14: 62,940,678 (GRCm39) |
R557S |
probably damaging |
Het |
Ints9 |
T |
A |
14: 65,269,729 (GRCm39) |
I473N |
possibly damaging |
Het |
Itih4 |
G |
A |
14: 30,623,626 (GRCm39) |
G915R |
probably damaging |
Het |
Kif1a |
C |
A |
1: 92,952,368 (GRCm39) |
A1304S |
possibly damaging |
Het |
Kif21b |
C |
T |
1: 136,075,924 (GRCm39) |
|
probably benign |
Het |
Klk13 |
C |
A |
7: 43,363,284 (GRCm39) |
C10* |
probably null |
Het |
Krtap4-8 |
C |
T |
11: 99,671,321 (GRCm39) |
|
probably benign |
Het |
Lef1 |
T |
C |
3: 130,978,382 (GRCm39) |
S167P |
probably benign |
Het |
Leng8 |
T |
A |
7: 4,147,796 (GRCm39) |
I607N |
probably damaging |
Het |
Lrch4 |
T |
A |
5: 137,637,408 (GRCm39) |
L526* |
probably null |
Het |
Memo1 |
G |
A |
17: 74,565,456 (GRCm39) |
Q36* |
probably null |
Het |
Nod1 |
C |
A |
6: 54,920,741 (GRCm39) |
A526S |
probably damaging |
Het |
Nostrin |
G |
A |
2: 69,014,243 (GRCm39) |
V400M |
possibly damaging |
Het |
Nrip1 |
T |
C |
16: 76,089,920 (GRCm39) |
T546A |
probably benign |
Het |
Nxf1 |
A |
G |
19: 8,740,127 (GRCm39) |
D98G |
probably benign |
Het |
Or13a24 |
A |
G |
7: 140,154,554 (GRCm39) |
M163V |
probably benign |
Het |
Or1l4 |
T |
A |
2: 37,092,094 (GRCm39) |
Y280* |
probably null |
Het |
Or2h2b-ps1 |
A |
T |
17: 37,481,173 (GRCm39) |
V20E |
probably damaging |
Het |
Or2t1 |
A |
G |
14: 14,328,887 (GRCm38) |
M259V |
probably benign |
Het |
Or4c114 |
G |
T |
2: 88,904,656 (GRCm39) |
P260T |
probably benign |
Het |
Or6aa1 |
A |
T |
7: 86,043,718 (GRCm39) |
|
probably null |
Het |
Osgep |
T |
C |
14: 51,155,378 (GRCm39) |
Y60C |
probably damaging |
Het |
P2ry6 |
A |
G |
7: 100,587,511 (GRCm39) |
Y283H |
probably damaging |
Het |
Pcdha7 |
A |
T |
18: 37,108,870 (GRCm39) |
S632C |
possibly damaging |
Het |
Pms1 |
T |
A |
1: 53,234,097 (GRCm39) |
R806S |
possibly damaging |
Het |
Rxfp1 |
T |
C |
3: 79,594,196 (GRCm39) |
N66S |
probably damaging |
Het |
Slc12a5 |
A |
T |
2: 164,815,685 (GRCm39) |
N67I |
probably damaging |
Het |
Slc1a4 |
G |
T |
11: 20,254,348 (GRCm39) |
T506K |
probably damaging |
Het |
Stimate |
C |
A |
14: 30,594,490 (GRCm39) |
|
probably benign |
Het |
Tlr9 |
T |
A |
9: 106,102,173 (GRCm39) |
I488N |
probably damaging |
Het |
Tmem74 |
G |
T |
15: 43,730,554 (GRCm39) |
T163K |
probably damaging |
Het |
Uba2 |
T |
C |
7: 33,854,021 (GRCm39) |
D307G |
probably damaging |
Het |
Uty |
C |
T |
Y: 1,131,134 (GRCm39) |
R924Q |
probably damaging |
Het |
Wdr7 |
C |
T |
18: 63,910,651 (GRCm39) |
T681I |
probably benign |
Het |
Xab2 |
A |
G |
8: 3,668,105 (GRCm39) |
S158P |
probably benign |
Het |
Ythdc1 |
T |
C |
5: 86,970,667 (GRCm39) |
S418P |
probably damaging |
Het |
Zfand4 |
T |
A |
6: 116,305,195 (GRCm39) |
C207* |
probably null |
Het |
Zfp367 |
C |
T |
13: 64,283,238 (GRCm39) |
D305N |
probably damaging |
Het |
Zfp804b |
C |
T |
5: 6,822,584 (GRCm39) |
V160I |
probably benign |
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 |
|
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'- CAACATGGGGCTGCTAATGG -3'
(R):5'- AGTTAAGCGCTACTCCCTCCAC -3'
Sequencing Primer
(F):5'- CAGGGAGTTACTTGGAAGTGCATC -3'
(R):5'- TCCACACTGGGCTCCAC -3'
|
Posted On |
2016-03-21 |