Incidental Mutation 'R1897:Qars1'
| ID |
212054 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Qars1
|
| Ensembl Gene |
ENSMUSG00000032604 |
| Gene Name |
glutaminyl-tRNA synthetase 1 |
| Synonyms |
1200016L19Rik, Qars, 1110018N24Rik |
| MMRRC Submission |
039917-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R1897 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108385204-108393140 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 108391282 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 7
(Q7*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142223
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006838]
[ENSMUST00000006851]
[ENSMUST00000112155]
[ENSMUST00000134939]
[ENSMUST00000192932]
[ENSMUST00000192819]
[ENSMUST00000193258]
[ENSMUST00000194045]
[ENSMUST00000208162]
[ENSMUST00000208214]
[ENSMUST00000208581]
[ENSMUST00000207790]
[ENSMUST00000208177]
[ENSMUST00000207947]
[ENSMUST00000207810]
[ENSMUST00000207862]
[ENSMUST00000193348]
[ENSMUST00000195563]
[ENSMUST00000195513]
[ENSMUST00000194385]
|
| AlphaFold |
Q8BML9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000006838
AA Change: Q545*
|
| SMART Domains |
Protein: ENSMUSP00000006838
Gene: ENSMUSG00000032604
AA Change: Q545*
| 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 |
probably null
Transcript: ENSMUST00000134939
AA Change: Q521*
|
| SMART Domains |
Protein: ENSMUSP00000122918
Gene: ENSMUSG00000032604
AA Change: Q521*
| 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: ENSMUST00000192659
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144253
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192065
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141780
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141201
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154311
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154324
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192627
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137980
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192331
|
| 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: 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: 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 |
probably null
Transcript: ENSMUST00000194045
AA Change: Q7*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208962
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207062
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208074
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208162
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208214
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208581
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207180
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207790
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208177
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207734
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208069
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194743
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207947
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207713
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207810
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208506
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207126
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207862
|
| 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: 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: 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: 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.3%
- 20x: 92.8%
|
| Validation Efficiency |
99% (72/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd6 |
A |
G |
1: 155,434,564 (GRCm39) |
S61G |
probably damaging |
Het |
| Acot12 |
A |
G |
13: 91,932,516 (GRCm39) |
N504S |
probably benign |
Het |
| Adcy3 |
C |
T |
12: 4,223,450 (GRCm39) |
|
probably benign |
Het |
| Adcyap1r1 |
A |
T |
6: 55,456,179 (GRCm39) |
H168L |
probably damaging |
Het |
| Adgrd1 |
A |
G |
5: 129,206,065 (GRCm39) |
E213G |
probably benign |
Het |
| Aldh1l2 |
G |
T |
10: 83,338,389 (GRCm39) |
T510K |
probably damaging |
Het |
| Apol7e |
A |
T |
15: 77,602,094 (GRCm39) |
M231L |
probably benign |
Het |
| Asb1 |
C |
A |
1: 91,474,647 (GRCm39) |
|
probably null |
Het |
| Atf7ip2 |
C |
T |
16: 10,028,948 (GRCm39) |
P160L |
probably damaging |
Het |
| Atp8a1 |
A |
G |
5: 67,895,772 (GRCm39) |
L554P |
probably damaging |
Het |
| Ccdc18 |
A |
T |
5: 108,343,908 (GRCm39) |
M884L |
probably benign |
Het |
| Ccdc93 |
A |
G |
1: 121,418,941 (GRCm39) |
I499V |
probably benign |
Het |
| Ccl20 |
A |
G |
1: 83,095,616 (GRCm39) |
D60G |
probably damaging |
Het |
| Cdhr3 |
T |
C |
12: 33,095,192 (GRCm39) |
T626A |
possibly damaging |
Het |
| Cep250 |
A |
G |
2: 155,818,015 (GRCm39) |
E789G |
probably damaging |
Het |
| Cmpk2 |
T |
C |
12: 26,524,046 (GRCm39) |
L281P |
probably damaging |
Het |
| Col6a6 |
A |
T |
9: 105,662,943 (GRCm39) |
M198K |
possibly damaging |
Het |
| Crocc |
G |
A |
4: 140,746,047 (GRCm39) |
R1691C |
probably damaging |
Het |
| Csf1 |
C |
T |
3: 107,655,595 (GRCm39) |
V90M |
probably damaging |
Het |
| Cul2 |
T |
G |
18: 3,414,164 (GRCm39) |
M86R |
probably benign |
Het |
| Dbndd2 |
T |
C |
2: 164,330,584 (GRCm39) |
F79S |
probably damaging |
Het |
| Dkk1 |
G |
T |
19: 30,526,678 (GRCm39) |
N34K |
possibly damaging |
Het |
| Dnah6 |
T |
A |
6: 73,158,745 (GRCm39) |
L619F |
probably benign |
Het |
| Eif2b5 |
T |
C |
16: 20,325,787 (GRCm39) |
V588A |
probably damaging |
Het |
| Elf3 |
A |
T |
1: 135,184,875 (GRCm39) |
Y104N |
probably damaging |
Het |
| Fahd2a |
T |
C |
2: 127,278,530 (GRCm39) |
D272G |
probably damaging |
Het |
| Fbxw15 |
A |
T |
9: 109,387,271 (GRCm39) |
C188* |
probably null |
Het |
| Fbxw8 |
T |
C |
5: 118,266,941 (GRCm39) |
Y174C |
probably benign |
Het |
| Gnl1 |
C |
A |
17: 36,299,584 (GRCm39) |
P585Q |
possibly damaging |
Het |
| Greb1l |
T |
C |
18: 10,498,992 (GRCm39) |
S292P |
probably benign |
Het |
| Gsk3b |
G |
A |
16: 38,037,446 (GRCm39) |
|
probably null |
Het |
| Hcls1 |
C |
T |
16: 36,783,005 (GRCm39) |
P452L |
probably damaging |
Het |
| Hdlbp |
A |
T |
1: 93,350,007 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
A |
G |
13: 14,552,525 (GRCm39) |
S25P |
probably damaging |
Het |
| Hells |
T |
C |
19: 38,928,928 (GRCm39) |
V100A |
probably benign |
Het |
| Isl1 |
C |
T |
13: 116,439,866 (GRCm39) |
E161K |
probably benign |
Het |
| Klra9 |
G |
T |
6: 130,162,555 (GRCm39) |
N160K |
possibly damaging |
Het |
| Lama4 |
T |
C |
10: 38,936,182 (GRCm39) |
V619A |
probably damaging |
Het |
| Mpc1 |
G |
A |
17: 8,515,710 (GRCm39) |
R134Q |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,199,523 (GRCm39) |
N1377I |
probably benign |
Het |
| Myrf |
T |
C |
19: 10,195,596 (GRCm39) |
I607V |
probably benign |
Het |
| Or2g1 |
T |
G |
17: 38,107,075 (GRCm39) |
S247A |
probably benign |
Het |
| Or8g53 |
A |
T |
9: 39,683,361 (GRCm39) |
I245K |
probably damaging |
Het |
| Pik3c2b |
A |
G |
1: 132,994,654 (GRCm39) |
D206G |
possibly damaging |
Het |
| Pipox |
A |
G |
11: 77,773,568 (GRCm39) |
Y228H |
probably damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,610,131 (GRCm39) |
V401D |
possibly damaging |
Het |
| Plod1 |
C |
T |
4: 148,010,657 (GRCm39) |
E265K |
probably damaging |
Het |
| Ptpn21 |
A |
T |
12: 98,646,664 (GRCm39) |
|
probably null |
Het |
| Rpap2 |
T |
A |
5: 107,780,961 (GRCm39) |
V479E |
possibly damaging |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Rusc2 |
A |
G |
4: 43,421,749 (GRCm39) |
Y723C |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,765,818 (GRCm39) |
M1306K |
probably benign |
Het |
| Sesn3 |
A |
C |
9: 14,219,941 (GRCm39) |
Y110S |
probably damaging |
Het |
| Sgce |
C |
T |
6: 4,691,511 (GRCm39) |
V319I |
probably benign |
Het |
| Slc15a5 |
G |
T |
6: 138,056,762 (GRCm39) |
F51L |
possibly damaging |
Het |
| Slit2 |
T |
A |
5: 48,395,765 (GRCm39) |
C723S |
probably damaging |
Het |
| Sncaip |
A |
G |
18: 53,027,862 (GRCm39) |
|
probably null |
Het |
| Snx2 |
T |
A |
18: 53,330,950 (GRCm39) |
D138E |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,729,740 (GRCm39) |
L126* |
probably null |
Het |
| Stam |
T |
C |
2: 14,133,837 (GRCm39) |
S195P |
probably damaging |
Het |
| Strn |
T |
C |
17: 78,990,271 (GRCm39) |
I82V |
probably benign |
Het |
| Synj2 |
T |
A |
17: 6,072,412 (GRCm39) |
C202* |
probably null |
Het |
| Tecpr2 |
A |
G |
12: 110,899,681 (GRCm39) |
D683G |
probably benign |
Het |
| Tfec |
A |
G |
6: 16,835,307 (GRCm39) |
V157A |
probably damaging |
Het |
| Tff1 |
T |
G |
17: 31,383,912 (GRCm39) |
Q28P |
probably benign |
Het |
| Vmn2r86 |
A |
G |
10: 130,288,314 (GRCm39) |
Y396H |
probably damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,307,829 (GRCm39) |
M803K |
probably damaging |
Het |
| Vmn2r90 |
A |
G |
17: 17,953,566 (GRCm39) |
K577E |
probably damaging |
Het |
| Vrk1 |
T |
C |
12: 106,002,799 (GRCm39) |
|
probably benign |
Het |
| Wdr20 |
A |
G |
12: 110,760,157 (GRCm39) |
T348A |
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 |
|
|
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 |
|
|
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'- ACGGCTCTTCACACTCACTG -3'
(R):5'- GAAATTTGGCACTCGGATGTC -3'
Sequencing Primer
(F):5'- TCACTGCCCTACGACGACG -3'
(R):5'- GATAGCTGTTATCTCAGATACTCGGC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation