Incidental Mutation 'IGL02239:Qrsl1'
ID |
286002 |
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 # |
IGL02239
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
43750184-43777741 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 43770596 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 99
(P99S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020012
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020012]
|
AlphaFold |
Q9CZN8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020012
AA Change: P99S
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000020012 Gene: ENSMUSG00000019863 AA Change: P99S
Domain | Start | End | E-Value | Type |
Pfam:Amidase
|
22 |
484 |
6e-129 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154405
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216786
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217541
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
A |
G |
16: 20,369,386 (GRCm39) |
E262G |
possibly damaging |
Het |
Adgra3 |
T |
A |
5: 50,118,054 (GRCm39) |
S1165C |
probably damaging |
Het |
Akap11 |
A |
G |
14: 78,751,289 (GRCm39) |
L366P |
probably damaging |
Het |
Astn1 |
T |
C |
1: 158,491,700 (GRCm39) |
|
probably null |
Het |
Bhmt2 |
C |
T |
13: 93,799,687 (GRCm39) |
G250R |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cntnap2 |
A |
G |
6: 46,998,588 (GRCm39) |
D880G |
probably damaging |
Het |
Erc1 |
A |
G |
6: 119,750,852 (GRCm39) |
V443A |
probably damaging |
Het |
Fbxw15 |
A |
G |
9: 109,388,905 (GRCm39) |
I168T |
probably benign |
Het |
Fgfr2 |
C |
T |
7: 129,779,416 (GRCm39) |
A504T |
probably damaging |
Het |
Galm |
A |
G |
17: 80,452,467 (GRCm39) |
D135G |
probably damaging |
Het |
Gstp3 |
C |
T |
19: 4,107,899 (GRCm39) |
V145I |
possibly damaging |
Het |
Hspa5 |
T |
C |
2: 34,662,788 (GRCm39) |
F115L |
probably benign |
Het |
Lig4 |
A |
C |
8: 10,022,473 (GRCm39) |
S436A |
probably damaging |
Het |
Ncam1 |
A |
G |
9: 49,478,702 (GRCm39) |
V99A |
probably damaging |
Het |
Nell1 |
T |
A |
7: 49,899,398 (GRCm39) |
I336N |
probably benign |
Het |
Or52ad1 |
T |
C |
7: 102,995,805 (GRCm39) |
Y110C |
probably damaging |
Het |
Or5p55 |
T |
C |
7: 107,567,254 (GRCm39) |
S217P |
probably damaging |
Het |
Or8g20 |
T |
A |
9: 39,395,857 (GRCm39) |
I231F |
probably damaging |
Het |
Patl1 |
A |
T |
19: 11,914,723 (GRCm39) |
K625* |
probably null |
Het |
Rfx8 |
T |
C |
1: 39,720,046 (GRCm39) |
D343G |
probably benign |
Het |
Scart2 |
T |
C |
7: 139,875,756 (GRCm39) |
F340S |
probably damaging |
Het |
Serpinb3a |
T |
A |
1: 106,979,418 (GRCm39) |
Y28F |
probably benign |
Het |
Slc6a4 |
A |
T |
11: 76,917,982 (GRCm39) |
I575F |
probably benign |
Het |
Tbx5 |
T |
A |
5: 120,009,345 (GRCm39) |
S285T |
possibly damaging |
Het |
Tmem229a |
A |
T |
6: 24,955,539 (GRCm39) |
S72T |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,576,748 (GRCm39) |
D24715G |
probably damaging |
Het |
Zfp784 |
T |
C |
7: 5,038,670 (GRCm39) |
|
probably benign |
Het |
Zswim2 |
T |
A |
2: 83,769,107 (GRCm39) |
K85* |
probably null |
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 |
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 |
IGL03386:Qrsl1
|
APN |
10 |
43,752,546 (GRCm39) |
missense |
possibly damaging |
0.63 |
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 |
2015-04-16 |