Incidental Mutation 'R7178:Qars1'
| ID |
558781 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Qars1
|
| Ensembl Gene |
ENSMUSG00000032604 |
| Gene Name |
glutaminyl-tRNA synthetase 1 |
| Synonyms |
1200016L19Rik, Qars, 1110018N24Rik |
| MMRRC Submission |
045232-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R7178 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108385204-108393140 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108392322 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 723
(V723A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006838]
[ENSMUST00000006851]
[ENSMUST00000112155]
[ENSMUST00000134939]
[ENSMUST00000192819]
[ENSMUST00000192932]
[ENSMUST00000193258]
[ENSMUST00000193348]
[ENSMUST00000194045]
[ENSMUST00000194385]
[ENSMUST00000195513]
[ENSMUST00000195563]
[ENSMUST00000207790]
[ENSMUST00000207810]
[ENSMUST00000207862]
[ENSMUST00000207947]
[ENSMUST00000208162]
[ENSMUST00000208177]
[ENSMUST00000208214]
[ENSMUST00000208581]
|
| AlphaFold |
Q8BML9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006838
AA Change: V723A
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000006838
Gene: ENSMUSG00000032604
AA Change: V723A
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000122918
Gene: ENSMUSG00000032604
AA Change: V699A
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000121146
Gene: ENSMUSG00000032604
AA Change: V141A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA-synt_1c
|
2 |
148 |
2.1e-50 |
PFAM |
|
| 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: 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: 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 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: ENSMUST00000194045
|
| 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 |
|
| 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: 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: ENSMUST00000207180
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207713
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207734
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207790
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207810
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207862
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207947
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208074
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208162
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208177
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208214
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208506
AA Change: *160Q
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208581
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208962
AA Change: *79Q
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (75/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
A |
G |
9: 54,535,745 (GRCm39) |
I130T |
possibly damaging |
Het |
| Adam24 |
T |
A |
8: 41,133,039 (GRCm39) |
L169* |
probably null |
Het |
| Als2 |
A |
T |
1: 59,246,971 (GRCm39) |
I556N |
probably damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,688,599 (GRCm39) |
N212K |
|
Het |
| Anpep |
T |
C |
7: 79,490,736 (GRCm39) |
D260G |
probably benign |
Het |
| Arhgap17 |
A |
T |
7: 122,884,581 (GRCm39) |
|
probably null |
Het |
| Atad2 |
C |
T |
15: 57,980,689 (GRCm39) |
R383Q |
probably damaging |
Het |
| Atp11b |
T |
A |
3: 35,874,099 (GRCm39) |
M696K |
probably benign |
Het |
| Atp13a2 |
A |
G |
4: 140,726,462 (GRCm39) |
T350A |
probably damaging |
Het |
| Atp8b2 |
T |
C |
3: 89,850,979 (GRCm39) |
D29G |
possibly damaging |
Het |
| Baz2a |
C |
T |
10: 127,960,326 (GRCm39) |
R1514W |
probably damaging |
Het |
| Cep250 |
T |
A |
2: 155,815,375 (GRCm39) |
L631* |
probably null |
Het |
| Cimip2a |
G |
A |
2: 25,110,252 (GRCm39) |
V55I |
probably damaging |
Het |
| Clec4a3 |
T |
C |
6: 122,941,251 (GRCm39) |
I82T |
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,454,170 (GRCm39) |
I2648F |
|
Het |
| Cul5 |
A |
G |
9: 53,555,826 (GRCm39) |
F247L |
probably benign |
Het |
| Dnajc24 |
A |
T |
2: 105,800,807 (GRCm39) |
M101K |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,344,200 (GRCm39) |
V1848E |
probably damaging |
Het |
| Dspp |
A |
G |
5: 104,321,932 (GRCm39) |
T14A |
probably benign |
Het |
| Gm7298 |
T |
G |
6: 121,762,855 (GRCm39) |
I1392S |
probably damaging |
Het |
| Gm9955 |
A |
T |
18: 24,842,220 (GRCm39) |
S62R |
unknown |
Het |
| Gtsf1 |
T |
G |
15: 103,328,388 (GRCm39) |
N130T |
probably benign |
Het |
| Heatr5a |
C |
A |
12: 51,971,925 (GRCm39) |
S755I |
probably damaging |
Het |
| Hrc |
A |
G |
7: 44,985,685 (GRCm39) |
T279A |
possibly damaging |
Het |
| Hvcn1 |
T |
C |
5: 122,371,573 (GRCm39) |
W38R |
probably damaging |
Het |
| Hyal6 |
A |
G |
6: 24,734,834 (GRCm39) |
S256G |
probably benign |
Het |
| Insyn2b |
G |
T |
11: 34,352,359 (GRCm39) |
V134F |
probably damaging |
Het |
| Ipo13 |
A |
G |
4: 117,761,081 (GRCm39) |
S546P |
possibly damaging |
Het |
| Katnip |
T |
C |
7: 125,465,499 (GRCm39) |
V1317A |
probably benign |
Het |
| Kif24 |
A |
G |
4: 41,395,085 (GRCm39) |
V730A |
probably benign |
Het |
| L3mbtl2 |
T |
C |
15: 81,555,275 (GRCm39) |
V176A |
probably benign |
Het |
| Lgi1 |
T |
C |
19: 38,294,733 (GRCm39) |
Y502H |
probably damaging |
Het |
| Liph |
T |
A |
16: 21,795,078 (GRCm39) |
D178V |
probably damaging |
Het |
| Maea |
T |
C |
5: 33,515,854 (GRCm39) |
V47A |
probably damaging |
Het |
| Mak16 |
A |
C |
8: 31,656,602 (GRCm39) |
S42A |
probably benign |
Het |
| Mamdc4 |
T |
C |
2: 25,458,977 (GRCm39) |
I269V |
probably benign |
Het |
| Mapk8ip3 |
A |
T |
17: 25,120,728 (GRCm39) |
M812K |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,752,788 (GRCm38) |
S889T |
unknown |
Het |
| Npy6r |
A |
G |
18: 44,409,551 (GRCm39) |
N324S |
probably damaging |
Het |
| Ntrk3 |
T |
G |
7: 78,005,895 (GRCm39) |
T489P |
possibly damaging |
Het |
| Or52a5b |
G |
A |
7: 103,417,182 (GRCm39) |
Q141* |
probably null |
Het |
| Or5h19 |
T |
A |
16: 58,856,296 (GRCm39) |
D268V |
probably benign |
Het |
| Or5t17 |
G |
A |
2: 86,832,879 (GRCm39) |
V189I |
probably benign |
Het |
| Otof |
G |
C |
5: 30,540,878 (GRCm39) |
T887S |
possibly damaging |
Het |
| Papola |
T |
C |
12: 105,773,443 (GRCm39) |
V154A |
probably damaging |
Het |
| Pde4dip |
T |
C |
3: 97,622,946 (GRCm39) |
H1421R |
probably benign |
Het |
| Plpp5 |
T |
C |
8: 26,210,606 (GRCm39) |
S66P |
probably benign |
Het |
| Ppp6r3 |
T |
A |
19: 3,568,337 (GRCm39) |
I154L |
probably benign |
Het |
| Prr18 |
A |
C |
17: 8,560,741 (GRCm39) |
D299A |
possibly damaging |
Het |
| Psmb1 |
G |
A |
17: 15,697,521 (GRCm39) |
S198F |
possibly damaging |
Het |
| Rab6a |
A |
T |
7: 100,285,959 (GRCm39) |
R185* |
probably null |
Het |
| Scn2a |
C |
T |
2: 65,579,197 (GRCm39) |
Q1511* |
probably null |
Het |
| Serpinb3d |
T |
A |
1: 107,008,506 (GRCm39) |
I120F |
possibly damaging |
Het |
| Serpini2 |
T |
C |
3: 75,165,455 (GRCm39) |
T175A |
probably damaging |
Het |
| Skic2 |
T |
C |
17: 35,058,440 (GRCm39) |
T1226A |
probably benign |
Het |
| Slc17a6 |
A |
G |
7: 51,317,259 (GRCm39) |
I427V |
possibly damaging |
Het |
| Slc2a2 |
C |
T |
3: 28,773,631 (GRCm39) |
A312V |
possibly damaging |
Het |
| Snx33 |
C |
T |
9: 56,833,151 (GRCm39) |
R306H |
probably damaging |
Het |
| Spcs1 |
G |
A |
14: 30,722,438 (GRCm39) |
S127F |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,399,027 (GRCm39) |
V2158A |
possibly damaging |
Het |
| Sptbn4 |
T |
A |
7: 27,117,481 (GRCm39) |
I423F |
probably damaging |
Het |
| Synj2 |
T |
A |
17: 6,076,754 (GRCm39) |
I930N |
possibly damaging |
Het |
| Tas2r140 |
T |
A |
6: 133,032,623 (GRCm39) |
D45V |
probably damaging |
Het |
| Tcf3 |
C |
A |
10: 80,257,433 (GRCm39) |
V11F |
unknown |
Het |
| Tead1 |
A |
T |
7: 112,441,144 (GRCm39) |
Q91L |
probably benign |
Het |
| Tgm5 |
T |
A |
2: 120,916,249 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
C |
T |
6: 72,593,028 (GRCm39) |
G151S |
probably benign |
Het |
| Tnfrsf11a |
C |
A |
1: 105,755,264 (GRCm39) |
N445K |
probably benign |
Het |
| Ttn |
G |
C |
2: 76,540,514 (GRCm39) |
F34157L |
probably benign |
Het |
| Vmn2r91 |
C |
A |
17: 18,356,424 (GRCm39) |
P697Q |
probably damaging |
Het |
| Zeb2 |
G |
A |
2: 44,887,006 (GRCm39) |
L684F |
probably damaging |
Het |
| Zfp661 |
T |
C |
2: 127,419,456 (GRCm39) |
D228G |
probably benign |
Het |
| Zfp738 |
T |
C |
13: 67,821,147 (GRCm39) |
K77E |
probably damaging |
Het |
| Zkscan1 |
T |
A |
5: 138,099,192 (GRCm39) |
D378E |
probably damaging |
Het |
| Zswim9 |
T |
A |
7: 12,993,924 (GRCm39) |
D744V |
possibly 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 |
|
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 |
|
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'- TGGAATTGAGACTGTCACAGG -3'
(R):5'- AGTGAACAGCTTCCACCATC -3'
Sequencing Primer
(F):5'- AAGGGCCTGACTTTCACTCTGG -3'
(R):5'- CACCATCAGTACACAGAAGGGTATAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation