Incidental Mutation 'R8248:Qars1'
| ID |
640379 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Qars1
|
| Ensembl Gene |
ENSMUSG00000032604 |
| Gene Name |
glutaminyl-tRNA synthetase 1 |
| Synonyms |
1200016L19Rik, Qars, 1110018N24Rik |
| MMRRC Submission |
067675-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R8248 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108385204-108393140 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 108386651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 155
(A155T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006838]
[ENSMUST00000134939]
[ENSMUST00000194045]
[ENSMUST00000207790]
[ENSMUST00000207810]
[ENSMUST00000207862]
[ENSMUST00000207947]
[ENSMUST00000208162]
[ENSMUST00000208177]
[ENSMUST00000208214]
[ENSMUST00000208581]
|
| AlphaFold |
Q8BML9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006838
AA Change: A155T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000006838
Gene: ENSMUSG00000032604
AA Change: A155T
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000122918
Gene: ENSMUSG00000032604
AA Change: A155T
| 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 |
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: ENSMUST00000194045
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207180
|
| Predicted Effect |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207734
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207790
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207810
AA Change: A155T
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207862
AA Change: A143T
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207947
AA Change: A155T
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| 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
AA Change: A155T
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930003A15Rik |
T |
C |
16: 19,702,556 (GRCm39) |
D24G |
noncoding transcript |
Het |
| Adam32 |
A |
G |
8: 25,391,486 (GRCm39) |
S343P |
possibly damaging |
Het |
| Agbl2 |
G |
A |
2: 90,627,908 (GRCm39) |
G238R |
probably damaging |
Het |
| Ahi1 |
T |
A |
10: 20,847,991 (GRCm39) |
D466E |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,979,310 (GRCm39) |
V198E |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,731,434 (GRCm39) |
H658L |
possibly damaging |
Het |
| Atp8b5 |
T |
A |
4: 43,366,072 (GRCm39) |
I781N |
probably damaging |
Het |
| Bloc1s6 |
A |
T |
2: 122,584,565 (GRCm39) |
R47* |
probably null |
Het |
| Clk2 |
G |
A |
3: 89,080,811 (GRCm39) |
V266M |
probably damaging |
Het |
| Cul9 |
A |
C |
17: 46,840,940 (GRCm39) |
Y777D |
probably damaging |
Het |
| Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
| Dcp1a |
C |
T |
14: 30,201,555 (GRCm39) |
|
probably benign |
Het |
| Dnajb2 |
T |
G |
1: 75,220,226 (GRCm39) |
D248E |
|
Het |
| Dpy19l1 |
T |
C |
9: 24,414,191 (GRCm39) |
H79R |
probably benign |
Het |
| Elmo1 |
T |
C |
13: 20,784,371 (GRCm39) |
S643P |
probably damaging |
Het |
| Evi5 |
A |
G |
5: 107,966,753 (GRCm39) |
|
probably null |
Het |
| Fam76b |
T |
C |
9: 13,742,398 (GRCm39) |
C110R |
probably damaging |
Het |
| Galnt7 |
T |
A |
8: 57,991,222 (GRCm39) |
K429N |
probably benign |
Het |
| Gm10142 |
T |
A |
10: 77,551,950 (GRCm39) |
C104S |
probably damaging |
Het |
| Gm7298 |
A |
C |
6: 121,764,402 (GRCm39) |
H1427P |
probably benign |
Het |
| Golga7b |
A |
T |
19: 42,255,310 (GRCm39) |
I87F |
probably damaging |
Het |
| Gpr165 |
C |
A |
X: 95,757,623 (GRCm39) |
D7E |
probably benign |
Het |
| Gpr25 |
C |
A |
1: 136,188,415 (GRCm39) |
R66L |
probably benign |
Het |
| H2-Q2 |
A |
G |
17: 35,563,841 (GRCm39) |
N241D |
probably benign |
Het |
| Il1a |
T |
C |
2: 129,144,881 (GRCm39) |
D179G |
probably benign |
Het |
| Itch |
T |
C |
2: 155,048,303 (GRCm39) |
|
probably null |
Het |
| Itsn2 |
T |
C |
12: 4,712,052 (GRCm39) |
V913A |
probably benign |
Het |
| Kdm1b |
T |
A |
13: 47,225,354 (GRCm39) |
|
probably benign |
Het |
| Lama4 |
T |
C |
10: 38,937,375 (GRCm39) |
I655T |
possibly damaging |
Het |
| Lats1 |
T |
A |
10: 7,581,667 (GRCm39) |
S817R |
probably damaging |
Het |
| Lrrc8c |
A |
T |
5: 105,755,733 (GRCm39) |
M503L |
probably benign |
Het |
| Mast4 |
T |
C |
13: 102,875,229 (GRCm39) |
T1380A |
probably damaging |
Het |
| Mfap1a |
G |
T |
2: 121,336,976 (GRCm39) |
T16K |
possibly damaging |
Het |
| Mroh2b |
C |
T |
15: 4,960,586 (GRCm39) |
T773I |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Nudt7 |
A |
G |
8: 114,878,737 (GRCm39) |
Y255C |
probably benign |
Het |
| Pfas |
T |
C |
11: 68,891,089 (GRCm39) |
T310A |
probably damaging |
Het |
| Pkhd1l1 |
T |
G |
15: 44,406,942 (GRCm39) |
I2393R |
probably damaging |
Het |
| Pmm1 |
A |
C |
15: 81,844,932 (GRCm39) |
L24R |
possibly damaging |
Het |
| Pram1 |
T |
C |
17: 33,860,138 (GRCm39) |
V235A |
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,330,877 (GRCm39) |
T599A |
unknown |
Het |
| Prpf40b |
A |
G |
15: 99,214,166 (GRCm39) |
K812E |
unknown |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rgs6 |
A |
G |
12: 83,184,478 (GRCm39) |
|
probably benign |
Het |
| Rom1 |
T |
A |
19: 8,906,045 (GRCm39) |
R165W |
probably damaging |
Het |
| Rps6kb2 |
T |
A |
19: 4,206,987 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,768,546 (GRCm39) |
W2808R |
probably damaging |
Het |
| Sh3gl1 |
A |
G |
17: 56,326,038 (GRCm39) |
|
probably null |
Het |
| Slc22a30 |
A |
T |
19: 8,347,563 (GRCm39) |
M279K |
probably benign |
Het |
| Snx11 |
A |
G |
11: 96,660,759 (GRCm39) |
S184P |
unknown |
Het |
| Srgap1 |
A |
G |
10: 121,640,722 (GRCm39) |
C692R |
probably damaging |
Het |
| Srgap3 |
T |
C |
6: 112,700,104 (GRCm39) |
N982S |
probably damaging |
Het |
| Stac |
T |
A |
9: 111,422,813 (GRCm39) |
D270V |
probably benign |
Het |
| Syn3 |
T |
A |
10: 85,970,885 (GRCm39) |
I246F |
probably benign |
Het |
| Tnr |
T |
C |
1: 159,719,663 (GRCm39) |
V980A |
probably damaging |
Het |
| Usp17le |
G |
T |
7: 104,419,001 (GRCm39) |
A47E |
possibly damaging |
Het |
| Vmn2r118 |
T |
C |
17: 55,917,936 (GRCm39) |
N192S |
probably benign |
Het |
| Zmym4 |
C |
A |
4: 126,799,162 (GRCm39) |
V725L |
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 |
|
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 |
|
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'- AACATGGGGCTGCTAATGGG -3'
(R):5'- TCAGAGACCCAAGTTAAGCGC -3'
Sequencing Primer
(F):5'- CAGGGAGTTACTTGGAAGTGCATC -3'
(R):5'- AAGTTAAGCGCTACTCCCTC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation