Incidental Mutation 'IGL02336:Qars1'
| ID |
288831 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02336
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
108385204-108393140 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 108392185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 143
(E143*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006838]
[ENSMUST00000006851]
[ENSMUST00000112155]
[ENSMUST00000134939]
[ENSMUST00000192819]
[ENSMUST00000193258]
[ENSMUST00000192932]
[ENSMUST00000208177]
[ENSMUST00000207790]
[ENSMUST00000194045]
[ENSMUST00000207862]
[ENSMUST00000208581]
[ENSMUST00000208214]
[ENSMUST00000207947]
[ENSMUST00000208162]
[ENSMUST00000207810]
[ENSMUST00000193348]
[ENSMUST00000194385]
[ENSMUST00000195563]
[ENSMUST00000195513]
|
| AlphaFold |
Q8BML9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000006838
AA Change: E702*
|
| SMART Domains |
Protein: ENSMUSP00000006838
Gene: ENSMUSG00000032604
AA Change: E702*
| 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 |
noncoding transcript
Transcript: ENSMUST00000131005
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000134939
AA Change: E678*
|
| SMART Domains |
Protein: ENSMUSP00000122918
Gene: ENSMUSG00000032604
AA Change: E678*
| 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: ENSMUST00000136293
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137655
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192331
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141780
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192659
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192627
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141201
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154311
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154324
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137980
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192065
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144253
|
| 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: 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: 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: ENSMUST00000192932
|
| SMART Domains |
Protein: ENSMUSP00000141215
Gene: ENSMUSG00000006673
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1dgna_
|
7 |
48 |
3e-4 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207180
AA Change: E117*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208177
AA Change: E122*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208506
AA Change: E143*
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000207790
AA Change: R118L
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000194045
AA Change: R149L
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207862
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208581
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207062
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207126
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208214
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207713
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207947
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208069
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208962
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194743
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208162
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208074
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207734
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207810
|
| 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: 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: 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: ENSMUST00000195513
|
| SMART Domains |
Protein: ENSMUSP00000142025
Gene: ENSMUSG00000006673
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1dgna_
|
7 |
48 |
3e-4 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accsl |
A |
G |
2: 93,696,253 (GRCm39) |
V119A |
possibly damaging |
Het |
| Adamts12 |
T |
A |
15: 11,311,331 (GRCm39) |
M1196K |
probably benign |
Het |
| Adgre1 |
T |
A |
17: 57,718,024 (GRCm39) |
C345* |
probably null |
Het |
| Adrb2 |
T |
C |
18: 62,312,078 (GRCm39) |
E249G |
probably benign |
Het |
| Amdhd1 |
T |
A |
10: 93,360,291 (GRCm39) |
I423F |
probably benign |
Het |
| Ankhd1 |
A |
G |
18: 36,727,867 (GRCm39) |
N501S |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,179,858 (GRCm39) |
V2127A |
probably damaging |
Het |
| Cd180 |
T |
A |
13: 102,841,821 (GRCm39) |
I289N |
probably damaging |
Het |
| Chst5 |
T |
A |
8: 112,616,949 (GRCm39) |
I224F |
probably damaging |
Het |
| Cox6a2 |
A |
G |
7: 127,805,103 (GRCm39) |
I60T |
possibly damaging |
Het |
| Dnajc6 |
C |
T |
4: 101,471,483 (GRCm39) |
|
probably null |
Het |
| Dpp6 |
G |
A |
5: 27,674,409 (GRCm39) |
E179K |
probably benign |
Het |
| Fasn |
G |
A |
11: 120,704,562 (GRCm39) |
T1341I |
possibly damaging |
Het |
| Fat1 |
C |
T |
8: 45,404,620 (GRCm39) |
T457I |
probably benign |
Het |
| Filip1l |
A |
T |
16: 57,392,096 (GRCm39) |
|
probably null |
Het |
| Gje1 |
A |
T |
10: 14,592,413 (GRCm39) |
I123N |
probably damaging |
Het |
| Gli3 |
A |
G |
13: 15,894,874 (GRCm39) |
T683A |
probably damaging |
Het |
| Gm29326 |
C |
A |
7: 29,260,833 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5460 |
A |
G |
14: 33,765,909 (GRCm39) |
|
probably benign |
Het |
| Hspa4 |
C |
T |
11: 53,153,200 (GRCm39) |
S739N |
probably benign |
Het |
| Ighv1-42 |
T |
A |
12: 114,900,885 (GRCm39) |
I67F |
probably damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,402,041 (GRCm39) |
V408A |
probably benign |
Het |
| Kdm7a |
A |
T |
6: 39,147,198 (GRCm39) |
W250R |
probably damaging |
Het |
| Kif5a |
A |
G |
10: 127,078,565 (GRCm39) |
I360T |
possibly damaging |
Het |
| Maml1 |
T |
C |
11: 50,148,992 (GRCm39) |
N916S |
probably benign |
Het |
| Mier2 |
A |
T |
10: 79,384,184 (GRCm39) |
|
probably benign |
Het |
| Mpst |
A |
T |
15: 78,294,474 (GRCm39) |
T69S |
probably benign |
Het |
| Nlk |
C |
A |
11: 78,477,763 (GRCm39) |
V327F |
probably damaging |
Het |
| Nme5 |
A |
T |
18: 34,711,730 (GRCm39) |
S4T |
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,045,711 (GRCm39) |
I1625M |
possibly damaging |
Het |
| Nup210l |
T |
C |
3: 90,088,859 (GRCm39) |
|
probably null |
Het |
| Oas1d |
A |
G |
5: 121,057,111 (GRCm39) |
E239G |
probably damaging |
Het |
| Olfm4 |
T |
C |
14: 80,243,761 (GRCm39) |
S110P |
probably damaging |
Het |
| Or52e2 |
T |
C |
7: 102,804,772 (GRCm39) |
M61V |
probably benign |
Het |
| Parn |
T |
A |
16: 13,384,567 (GRCm39) |
I499F |
probably damaging |
Het |
| Ppargc1a |
G |
A |
5: 51,653,068 (GRCm39) |
Q165* |
probably null |
Het |
| Ppp1r12b |
T |
A |
1: 134,814,244 (GRCm39) |
E353V |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,603,842 (GRCm39) |
Q2952R |
possibly damaging |
Het |
| Prkdc |
G |
T |
16: 15,603,843 (GRCm39) |
Q2952H |
probably benign |
Het |
| Reln |
A |
G |
5: 22,134,132 (GRCm39) |
Y2599H |
probably damaging |
Het |
| Rnf123 |
T |
C |
9: 107,939,041 (GRCm39) |
E803G |
probably damaging |
Het |
| Rnf141 |
G |
A |
7: 110,436,405 (GRCm39) |
Q8* |
probably null |
Het |
| Rnf167 |
A |
G |
11: 70,540,952 (GRCm39) |
I193V |
probably benign |
Het |
| Rprd2 |
A |
T |
3: 95,694,622 (GRCm39) |
M137K |
probably benign |
Het |
| Rtf1 |
T |
G |
2: 119,559,226 (GRCm39) |
|
probably benign |
Het |
| Serpina1d |
T |
A |
12: 103,731,055 (GRCm39) |
R308* |
probably null |
Het |
| Smg7 |
T |
C |
1: 152,719,030 (GRCm39) |
Y899C |
probably benign |
Het |
| Tbr1 |
C |
A |
2: 61,635,336 (GRCm39) |
H95Q |
possibly damaging |
Het |
| Tcf19 |
A |
T |
17: 35,825,380 (GRCm39) |
|
probably null |
Het |
| Timm44 |
T |
A |
8: 4,317,692 (GRCm39) |
R210W |
probably damaging |
Het |
| Trnau1ap |
C |
A |
4: 132,041,331 (GRCm39) |
E194* |
probably null |
Het |
| Trp63 |
G |
A |
16: 25,639,192 (GRCm39) |
G127S |
probably damaging |
Het |
| Trrap |
C |
T |
5: 144,735,200 (GRCm39) |
A989V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,600,326 (GRCm39) |
D18988G |
probably damaging |
Het |
| Tubb4b-ps1 |
T |
A |
5: 7,229,952 (GRCm39) |
|
probably benign |
Het |
| Vmn1r77 |
G |
A |
7: 11,775,223 (GRCm39) |
|
probably null |
Het |
| Vmn1r80 |
A |
G |
7: 11,927,181 (GRCm39) |
Y97C |
probably benign |
Het |
| Vmn2r77 |
G |
A |
7: 86,451,224 (GRCm39) |
C370Y |
probably damaging |
Het |
| Xntrpc |
C |
A |
7: 101,733,492 (GRCm39) |
A147D |
probably damaging |
Het |
| Zc3h4 |
C |
T |
7: 16,159,702 (GRCm39) |
S424F |
unknown |
Het |
| Zcwpw1 |
T |
A |
5: 137,808,376 (GRCm39) |
S275T |
probably damaging |
Het |
| Zfp979 |
C |
T |
4: 147,699,808 (GRCm39) |
C44Y |
probably damaging |
Het |
| Zscan20 |
T |
C |
4: 128,479,587 (GRCm39) |
H968R |
probably damaging |
Het |
| Zswim3 |
T |
C |
2: 164,662,297 (GRCm39) |
V259A |
probably damaging |
Het |
| Zzz3 |
T |
G |
3: 152,133,696 (GRCm39) |
D251E |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation