Incidental Mutation 'R6889:Qars1'
| ID |
537116 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Qars1
|
| Ensembl Gene |
ENSMUSG00000032604 |
| Gene Name |
glutaminyl-tRNA synthetase 1 |
| Synonyms |
1200016L19Rik, Qars, 1110018N24Rik |
| MMRRC Submission |
044983-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R6889 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
108385204-108393140 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108390382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 428
(T428A)
|
| 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 |
probably damaging
Transcript: ENSMUST00000006838
AA Change: T428A
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000006838
Gene: ENSMUSG00000032604
AA Change: T428A
| 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 |
possibly damaging
Transcript: ENSMUST00000134939
AA Change: T404A
PolyPhen 2
Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000122918
Gene: ENSMUSG00000032604
AA Change: T404A
| 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: T25A
| 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 |
|
| 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 benign
Transcript: ENSMUST00000208506
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208581
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208962
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
A |
T |
4: 73,861,290 (GRCm39) |
D103E |
probably benign |
Het |
| Abcc3 |
A |
T |
11: 94,266,381 (GRCm39) |
S70T |
possibly damaging |
Het |
| Atp6v0a1 |
A |
G |
11: 100,920,009 (GRCm39) |
Y214C |
possibly damaging |
Het |
| Azi2 |
A |
G |
9: 117,878,963 (GRCm39) |
|
probably null |
Het |
| Cacnb2 |
T |
A |
2: 14,990,826 (GRCm39) |
V636E |
possibly damaging |
Het |
| Cd8a |
A |
C |
6: 71,351,546 (GRCm39) |
T169P |
probably damaging |
Het |
| Cfap44 |
G |
A |
16: 44,224,495 (GRCm39) |
V68I |
probably benign |
Het |
| Cspg4b |
C |
A |
13: 113,454,912 (GRCm39) |
S319R |
probably damaging |
Het |
| Dnaaf10 |
G |
A |
11: 17,172,309 (GRCm39) |
V133M |
probably damaging |
Het |
| Eea1 |
G |
T |
10: 95,873,340 (GRCm39) |
C1134F |
probably benign |
Het |
| Ehmt2 |
T |
G |
17: 35,131,748 (GRCm39) |
F1192V |
probably damaging |
Het |
| Emc1 |
T |
C |
4: 139,092,661 (GRCm39) |
F531L |
probably damaging |
Het |
| Eme1 |
G |
A |
11: 94,541,303 (GRCm39) |
T173I |
probably benign |
Het |
| Gli2 |
A |
T |
1: 118,772,146 (GRCm39) |
C520S |
probably damaging |
Het |
| Gm43302 |
T |
C |
5: 105,428,004 (GRCm39) |
K186E |
probably benign |
Het |
| Gpr108 |
A |
T |
17: 57,543,990 (GRCm39) |
N405K |
probably damaging |
Het |
| Hmgcl |
C |
A |
4: 135,682,953 (GRCm39) |
T135N |
probably benign |
Het |
| Hydin |
G |
A |
8: 111,259,488 (GRCm39) |
D2487N |
possibly damaging |
Het |
| Igfl3 |
G |
T |
7: 17,913,725 (GRCm39) |
R25L |
probably benign |
Het |
| Igsf10 |
A |
C |
3: 59,239,354 (GRCm39) |
S276A |
probably benign |
Het |
| Kctd1 |
A |
G |
18: 15,107,045 (GRCm39) |
S211P |
probably damaging |
Het |
| Kctd7 |
A |
T |
5: 130,181,342 (GRCm39) |
Q255L |
probably benign |
Het |
| Lrig1 |
A |
G |
6: 94,602,044 (GRCm39) |
Y270H |
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
A |
G |
16: 48,973,474 (GRCm39) |
N1248S |
possibly damaging |
Het |
| Nod1 |
A |
G |
6: 54,921,094 (GRCm39) |
F408S |
probably benign |
Het |
| Nrp1 |
T |
C |
8: 129,219,538 (GRCm39) |
F652S |
probably damaging |
Het |
| Opa1 |
G |
T |
16: 29,439,686 (GRCm39) |
R792L |
probably benign |
Het |
| Or10ak14 |
G |
A |
4: 118,611,504 (GRCm39) |
T79I |
probably damaging |
Het |
| Or51t4 |
A |
T |
7: 102,597,975 (GRCm39) |
H91L |
possibly damaging |
Het |
| Or5p63 |
A |
T |
7: 107,811,125 (GRCm39) |
F204I |
probably benign |
Het |
| Or6c74 |
T |
C |
10: 129,870,401 (GRCm39) |
M302T |
probably benign |
Het |
| Pcdha6 |
G |
T |
18: 37,101,396 (GRCm39) |
L196F |
probably damaging |
Het |
| Pdia2 |
A |
T |
17: 26,415,944 (GRCm39) |
Y347* |
probably null |
Het |
| Pdpr |
G |
T |
8: 111,851,245 (GRCm39) |
|
probably null |
Het |
| Pigt |
T |
A |
2: 164,349,251 (GRCm39) |
L518Q |
probably damaging |
Het |
| Ppfibp2 |
A |
C |
7: 107,337,188 (GRCm39) |
D591A |
possibly damaging |
Het |
| Prrg2 |
G |
A |
7: 44,709,413 (GRCm39) |
T97M |
possibly damaging |
Het |
| Rai1 |
T |
C |
11: 60,076,541 (GRCm39) |
F202L |
probably damaging |
Het |
| Rars1 |
A |
T |
11: 35,699,313 (GRCm39) |
M660K |
probably damaging |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,132 (GRCm39) |
|
probably benign |
Het |
| Slc16a6 |
A |
C |
11: 109,345,866 (GRCm39) |
F382V |
probably damaging |
Het |
| Slc30a7 |
T |
C |
3: 115,747,802 (GRCm39) |
T330A |
probably damaging |
Het |
| Smc1b |
A |
T |
15: 84,951,960 (GRCm39) |
L1157Q |
probably damaging |
Het |
| Snx4 |
G |
T |
16: 33,071,840 (GRCm39) |
A4S |
possibly damaging |
Het |
| Sv2b |
A |
C |
7: 74,775,515 (GRCm39) |
|
probably null |
Het |
| Syt9 |
A |
T |
7: 107,024,493 (GRCm39) |
I129L |
probably damaging |
Het |
| Ttbk2 |
T |
C |
2: 120,603,834 (GRCm39) |
E198G |
probably damaging |
Het |
| Ubr3 |
A |
T |
2: 69,774,644 (GRCm39) |
D488V |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,530,068 (GRCm39) |
C3286S |
probably damaging |
Het |
| Vill |
A |
G |
9: 118,894,950 (GRCm39) |
D56G |
possibly damaging |
Het |
| Vmn1r41 |
A |
T |
6: 89,724,352 (GRCm39) |
I298F |
probably damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,024,688 (GRCm39) |
V631D |
probably damaging |
Het |
| Vmn2r32 |
A |
G |
7: 7,475,573 (GRCm39) |
S437P |
possibly damaging |
Het |
| Vmn2r53 |
A |
G |
7: 12,335,069 (GRCm39) |
V197A |
probably benign |
Het |
| Wasf1 |
A |
T |
10: 40,796,365 (GRCm39) |
I32F |
probably damaging |
Het |
| Wasf2 |
G |
T |
4: 132,922,041 (GRCm39) |
A387S |
unknown |
Het |
| Zbtb14 |
G |
A |
17: 69,694,674 (GRCm39) |
C124Y |
probably damaging |
Het |
| Zfp462 |
G |
T |
4: 55,007,671 (GRCm39) |
A37S |
probably damaging |
Het |
| Zfp532 |
A |
G |
18: 65,820,061 (GRCm39) |
E882G |
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 |
|
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 |
2018-10-18 |
Incidental Mutation