Incidental Mutation 'IGL03386:Qrsl1'
| ID |
420880 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Qrsl1
|
| Ensembl Gene |
ENSMUSG00000019863 |
| Gene Name |
glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 |
| Synonyms |
2700038P16Rik, GatA |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
IGL03386
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
43750184-43777741 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43752546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 426
(Y426H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020012]
|
| AlphaFold |
Q9CZN8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020012
AA Change: Y426H
PolyPhen 2
Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000020012
Gene: ENSMUSG00000019863
AA Change: Y426H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidase
|
22 |
484 |
6e-129 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146937
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154405
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid2 |
T |
C |
15: 96,259,455 (GRCm39) |
F236L |
probably damaging |
Het |
| AU018091 |
T |
C |
7: 3,211,107 (GRCm39) |
Y274C |
probably damaging |
Het |
| BC024139 |
A |
G |
15: 76,005,945 (GRCm39) |
F419L |
probably benign |
Het |
| Cd300ld |
T |
G |
11: 114,874,998 (GRCm39) |
D212A |
probably benign |
Het |
| Ces1g |
T |
C |
8: 94,052,440 (GRCm39) |
H283R |
probably benign |
Het |
| Chac2 |
T |
A |
11: 30,927,720 (GRCm39) |
K66N |
probably benign |
Het |
| Emc1 |
T |
C |
4: 139,091,092 (GRCm39) |
|
probably null |
Het |
| Eml6 |
G |
A |
11: 29,699,934 (GRCm39) |
A1734V |
probably benign |
Het |
| Erich3 |
G |
A |
3: 154,444,876 (GRCm39) |
E548K |
possibly damaging |
Het |
| Gm3604 |
T |
A |
13: 62,517,981 (GRCm39) |
E105D |
possibly damaging |
Het |
| Gpr158 |
A |
G |
2: 21,831,057 (GRCm39) |
K719R |
probably damaging |
Het |
| Heatr6 |
T |
C |
11: 83,650,203 (GRCm39) |
S220P |
probably damaging |
Het |
| Kcnip4 |
T |
C |
5: 48,639,889 (GRCm39) |
Y74C |
probably damaging |
Het |
| Kmt2b |
T |
C |
7: 30,273,396 (GRCm39) |
H2380R |
possibly damaging |
Het |
| Lars2 |
A |
T |
9: 123,282,455 (GRCm39) |
K680* |
probably null |
Het |
| Macc1 |
T |
A |
12: 119,409,598 (GRCm39) |
M122K |
probably benign |
Het |
| Pbrm1 |
A |
G |
14: 30,772,049 (GRCm39) |
D381G |
probably damaging |
Het |
| Phf11d |
A |
G |
14: 59,599,309 (GRCm39) |
|
probably benign |
Het |
| Riok1 |
T |
A |
13: 38,241,213 (GRCm39) |
L456* |
probably null |
Het |
| Rps6kc1 |
A |
G |
1: 190,531,767 (GRCm39) |
L745P |
probably damaging |
Het |
| Sh3tc2 |
A |
T |
18: 62,106,382 (GRCm39) |
H137L |
probably benign |
Het |
| Shoc1 |
T |
C |
4: 59,069,315 (GRCm39) |
K704E |
possibly damaging |
Het |
| Shroom3 |
T |
A |
5: 93,096,342 (GRCm39) |
|
probably benign |
Het |
| Stac2 |
T |
A |
11: 97,931,966 (GRCm39) |
Q103L |
possibly damaging |
Het |
| Thnsl1 |
G |
A |
2: 21,216,359 (GRCm39) |
A38T |
probably benign |
Het |
| Traf3ip2 |
A |
G |
10: 39,521,704 (GRCm39) |
I421V |
probably benign |
Het |
| Vmn2r14 |
T |
C |
5: 109,368,350 (GRCm39) |
D214G |
possibly damaging |
Het |
|
| Other mutations in Qrsl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00477:Qrsl1
|
APN |
10 |
43,752,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01724:Qrsl1
|
APN |
10 |
43,750,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01896:Qrsl1
|
APN |
10 |
43,752,500 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02192:Qrsl1
|
APN |
10 |
43,761,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02239:Qrsl1
|
APN |
10 |
43,770,596 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02478:Qrsl1
|
APN |
10 |
43,758,158 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02756:Qrsl1
|
APN |
10 |
43,758,110 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0277:Qrsl1
|
UTSW |
10 |
43,772,003 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0323:Qrsl1
|
UTSW |
10 |
43,772,003 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0674:Qrsl1
|
UTSW |
10 |
43,771,997 (GRCm39) |
splice site |
probably benign |
|
|
R1054:Qrsl1
|
UTSW |
10 |
43,758,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1719:Qrsl1
|
UTSW |
10 |
43,772,026 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1743:Qrsl1
|
UTSW |
10 |
43,757,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1854:Qrsl1
|
UTSW |
10 |
43,770,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2233:Qrsl1
|
UTSW |
10 |
43,772,092 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4176:Qrsl1
|
UTSW |
10 |
43,760,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4452:Qrsl1
|
UTSW |
10 |
43,758,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Qrsl1
|
UTSW |
10 |
43,752,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4733:Qrsl1
|
UTSW |
10 |
43,752,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5626:Qrsl1
|
UTSW |
10 |
43,757,516 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6159:Qrsl1
|
UTSW |
10 |
43,758,189 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7563:Qrsl1
|
UTSW |
10 |
43,752,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8050:Qrsl1
|
UTSW |
10 |
43,750,631 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8092:Qrsl1
|
UTSW |
10 |
43,760,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8221:Qrsl1
|
UTSW |
10 |
43,758,080 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8331:Qrsl1
|
UTSW |
10 |
43,752,521 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Qrsl1
|
UTSW |
10 |
43,760,944 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2016-08-02 |
Incidental Mutation