Incidental Mutation 'R9126:Qars1'
| ID |
693259 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Qars1
|
| Ensembl Gene |
ENSMUSG00000032604 |
| Gene Name |
glutaminyl-tRNA synthetase 1 |
| Synonyms |
1200016L19Rik, Qars, 1110018N24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R9126 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
108385204-108393140 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 108386399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 143
(R143C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006838]
[ENSMUST00000134939]
[ENSMUST00000207947]
[ENSMUST00000207862]
[ENSMUST00000207810]
[ENSMUST00000207790]
[ENSMUST00000194045]
[ENSMUST00000208581]
[ENSMUST00000208214]
[ENSMUST00000208162]
[ENSMUST00000208177]
|
| AlphaFold |
Q8BML9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006838
AA Change: R143C
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000006838
Gene: ENSMUSG00000032604
AA Change: R143C
| 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 |
noncoding transcript
Transcript: ENSMUST00000131005
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000122918
Gene: ENSMUSG00000032604
AA Change: R143C
| 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 |
noncoding transcript
Transcript: ENSMUST00000137980
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141201
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141780
|
| 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 damaging
Transcript: ENSMUST00000207947
AA Change: R143C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207862
AA Change: R131C
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207126
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192659
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207062
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154311
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154324
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192627
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207790
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144253
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207734
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194045
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208581
AA Change: R143C
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208074
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208214
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208506
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208162
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208069
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208177
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208102
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam30 |
G |
T |
3: 98,068,307 (GRCm39) |
V47L |
probably benign |
Het |
| Atm |
T |
C |
9: 53,370,134 (GRCm39) |
K2323R |
probably benign |
Het |
| Bbx |
A |
G |
16: 50,020,813 (GRCm39) |
L865P |
probably damaging |
Het |
| C2cd3 |
T |
A |
7: 100,081,430 (GRCm39) |
I1024N |
|
Het |
| Cacna1e |
A |
T |
1: 154,343,510 (GRCm39) |
C1161S |
probably benign |
Het |
| Caskin2 |
A |
T |
11: 115,702,730 (GRCm39) |
V26E |
possibly damaging |
Het |
| Ccnb3 |
T |
G |
X: 6,874,413 (GRCm39) |
D722A |
probably damaging |
Het |
| Cep135 |
C |
A |
5: 76,781,550 (GRCm39) |
Q846K |
probably benign |
Het |
| Cfap44 |
A |
T |
16: 44,295,619 (GRCm39) |
D1639V |
possibly damaging |
Het |
| Cfh |
G |
T |
1: 140,014,111 (GRCm39) |
R1238S |
probably damaging |
Het |
| Dctn1 |
A |
T |
6: 83,169,835 (GRCm39) |
D712V |
probably damaging |
Het |
| Ddx21 |
T |
C |
10: 62,424,479 (GRCm39) |
D574G |
probably damaging |
Het |
| Dele1 |
A |
G |
18: 38,384,210 (GRCm39) |
T35A |
probably benign |
Het |
| Dipk1b |
A |
G |
2: 26,525,989 (GRCm39) |
T308A |
probably benign |
Het |
| Dlgap5 |
A |
G |
14: 47,638,989 (GRCm39) |
I443T |
probably damaging |
Het |
| Dusp7 |
G |
A |
9: 106,250,966 (GRCm39) |
V364I |
|
Het |
| Entpd1 |
G |
T |
19: 40,714,608 (GRCm39) |
R268L |
possibly damaging |
Het |
| Fermt3 |
C |
T |
19: 6,979,745 (GRCm39) |
A463T |
probably benign |
Het |
| Frat2 |
T |
C |
19: 41,836,106 (GRCm39) |
D82G |
probably damaging |
Het |
| Git1 |
T |
A |
11: 77,390,380 (GRCm39) |
I75N |
probably damaging |
Het |
| Gpr171 |
T |
A |
3: 59,005,488 (GRCm39) |
I96F |
probably damaging |
Het |
| Gzmb |
G |
T |
14: 56,497,845 (GRCm39) |
R132S |
probably benign |
Het |
| Hecw1 |
C |
T |
13: 14,546,608 (GRCm39) |
R132H |
probably damaging |
Het |
| Hey1 |
T |
G |
3: 8,729,651 (GRCm39) |
S269R |
probably benign |
Het |
| Hgf |
T |
A |
5: 16,765,979 (GRCm39) |
N38K |
possibly damaging |
Het |
| Lag3 |
T |
C |
6: 124,881,809 (GRCm39) |
R467G |
probably damaging |
Het |
| Lama3 |
A |
T |
18: 12,583,527 (GRCm39) |
H705L |
probably damaging |
Het |
| Lce3f |
T |
G |
3: 92,900,327 (GRCm39) |
S49R |
unknown |
Het |
| Lrrc49 |
T |
C |
9: 60,578,594 (GRCm39) |
D250G |
probably damaging |
Het |
| Lzts3 |
T |
C |
2: 130,477,248 (GRCm39) |
K400R |
possibly damaging |
Het |
| Macc1 |
T |
C |
12: 119,409,711 (GRCm39) |
S160P |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,276,193 (GRCm39) |
T6155A |
possibly damaging |
Het |
| Mboat4 |
C |
T |
8: 34,582,348 (GRCm39) |
T34I |
probably benign |
Het |
| Nav3 |
T |
A |
10: 109,541,524 (GRCm39) |
Q1913L |
probably benign |
Het |
| Notch4 |
T |
C |
17: 34,800,080 (GRCm39) |
S1014P |
probably benign |
Het |
| Or1o4 |
T |
C |
17: 37,590,745 (GRCm39) |
T189A |
probably benign |
Het |
| Or2h1b |
T |
C |
17: 37,462,123 (GRCm39) |
T247A |
possibly damaging |
Het |
| Or52z1 |
T |
G |
7: 103,437,002 (GRCm39) |
I161L |
probably benign |
Het |
| Orc2 |
A |
C |
1: 58,515,628 (GRCm39) |
H293Q |
probably benign |
Het |
| Otoa |
A |
G |
7: 120,693,845 (GRCm39) |
Y75C |
probably damaging |
Het |
| Pate2 |
T |
A |
9: 35,581,908 (GRCm39) |
|
probably null |
Het |
| Phldb3 |
G |
A |
7: 24,326,726 (GRCm39) |
V585I |
probably damaging |
Het |
| Plk3 |
ACACTCAC |
ACAC |
4: 116,989,090 (GRCm39) |
|
probably benign |
Het |
| Pou2f1 |
A |
T |
1: 165,722,603 (GRCm39) |
N443K |
unknown |
Het |
| Prkci |
T |
A |
3: 31,072,793 (GRCm39) |
F66I |
probably damaging |
Het |
| Ptprz1 |
C |
T |
6: 23,002,334 (GRCm39) |
Q1475* |
probably null |
Het |
| Reln |
T |
C |
5: 22,160,194 (GRCm39) |
D2125G |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,417,136 (GRCm39) |
D1325E |
probably damaging |
Het |
| Rpl36a-ps1 |
A |
T |
14: 99,231,694 (GRCm39) |
C15S |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Scn9a |
A |
G |
2: 66,314,744 (GRCm39) |
I1658T |
probably damaging |
Het |
| Serinc1 |
C |
T |
10: 57,395,577 (GRCm39) |
G370S |
probably benign |
Het |
| Spef1 |
G |
T |
2: 131,013,829 (GRCm39) |
T197K |
probably damaging |
Het |
| Spmap2l |
A |
G |
5: 77,164,453 (GRCm39) |
Y152C |
probably damaging |
Het |
| Sptan1 |
G |
A |
2: 29,920,597 (GRCm39) |
V2363I |
probably damaging |
Het |
| Ssh2 |
T |
A |
11: 77,346,102 (GRCm39) |
C1362* |
probably null |
Het |
| Star |
T |
C |
8: 26,302,832 (GRCm39) |
V258A |
probably benign |
Het |
| Sympk |
T |
C |
7: 18,778,873 (GRCm39) |
I588T |
possibly damaging |
Het |
| Tas2r136 |
T |
C |
6: 132,754,584 (GRCm39) |
N181S |
probably damaging |
Het |
| Tbc1d4 |
A |
T |
14: 101,724,952 (GRCm39) |
V555E |
probably benign |
Het |
| Topaz1 |
G |
A |
9: 122,625,228 (GRCm39) |
V1438I |
probably benign |
Het |
| Trmt112 |
T |
A |
19: 6,887,786 (GRCm39) |
M45K |
|
Het |
| Tshr |
G |
A |
12: 91,503,992 (GRCm39) |
R310H |
probably damaging |
Het |
| Ulk4 |
G |
T |
9: 121,090,988 (GRCm39) |
P238Q |
probably damaging |
Het |
| Unc5a |
T |
C |
13: 55,145,774 (GRCm39) |
L312P |
possibly damaging |
Het |
| Urb1 |
T |
C |
16: 90,566,290 (GRCm39) |
D1499G |
possibly damaging |
Het |
| Ushbp1 |
A |
G |
8: 71,843,653 (GRCm39) |
S262P |
probably damaging |
Het |
| Vmn1r173 |
G |
A |
7: 23,402,008 (GRCm39) |
R81K |
probably benign |
Het |
| Vmn2r5 |
G |
A |
3: 64,399,159 (GRCm39) |
P607S |
probably benign |
Het |
| Vtn |
G |
T |
11: 78,391,256 (GRCm39) |
G223V |
probably damaging |
Het |
| Zfhx4 |
T |
C |
3: 5,394,589 (GRCm39) |
V1061A |
probably damaging |
Het |
| Zfp169 |
T |
C |
13: 48,644,557 (GRCm39) |
E190G |
unknown |
Het |
| Zfp616 |
T |
A |
11: 73,976,280 (GRCm39) |
C850S |
probably 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 |
|
R8248:Qars1
|
UTSW |
9 |
108,386,651 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8558:Qars1
|
UTSW |
9 |
108,392,422 (GRCm39) |
missense |
probably benign |
|
|
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'- GAAGCTGTAAGTCCTCTCCTC -3'
(R):5'- TCAAAGAAGGCCCAGCTGAC -3'
Sequencing Primer
(F):5'- AGGCATCAGATATCTCCTCCTAG -3'
(R):5'- AGCTGACTCAGGACCAGGAC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation