Incidental Mutation 'R0003:Eprs1'
ID |
32287 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eprs1
|
Ensembl Gene |
ENSMUSG00000026615 |
Gene Name |
glutamyl-prolyl-tRNA synthetase 1 |
Synonyms |
3010002K18Rik, 2410081F06Rik, Qprs, Eprs |
MMRRC Submission |
038299-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0003 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
185095241-185160557 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 185146588 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1206
(V1206A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045841
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046514]
|
AlphaFold |
Q8CGC7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046514
AA Change: V1206A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045841 Gene: ENSMUSG00000026615 AA Change: V1206A
Domain | Start | End | E-Value | Type |
Pfam:GST_C_3
|
71 |
156 |
2.1e-15 |
PFAM |
Pfam:GST_C
|
72 |
157 |
2.9e-7 |
PFAM |
Pfam:tRNA-synt_1c
|
197 |
502 |
8.8e-127 |
PFAM |
Pfam:tRNA-synt_1c_C
|
504 |
681 |
4.4e-42 |
PFAM |
WHEP-TRS
|
753 |
815 |
1.26e-25 |
SMART |
WHEP-TRS
|
826 |
888 |
1.47e-26 |
SMART |
WHEP-TRS
|
904 |
966 |
3.76e-24 |
SMART |
low complexity region
|
984 |
1011 |
N/A |
INTRINSIC |
Pfam:tRNA-synt_2b
|
1107 |
1287 |
3.1e-17 |
PFAM |
Pfam:HGTP_anticodon
|
1303 |
1404 |
1.7e-19 |
PFAM |
ProRS-C_1
|
1430 |
1512 |
5.27e-28 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192284
|
Meta Mutation Damage Score |
0.2033 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.7%
|
Validation Efficiency |
94% (82/87) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a multifunctional aminoacyl-tRNA synthetase that catalyzes the aminoacylation of glutamic acid and proline tRNA species. Alternative splicing has been observed for this gene, but the full-length nature and biological validity of the variant have not been determined. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a phospho-mimetic allele exhibit normal body weight, life span and glucose metabolism. Mice homozygous for a phospho-deficient allele exhibit decrease body weight, enhanced lipolysis, altered glucose metabolism and increased energy expenditure. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam19 |
T |
A |
11: 46,019,616 (GRCm39) |
C439S |
probably damaging |
Het |
Adnp2 |
T |
C |
18: 80,174,205 (GRCm39) |
Y68C |
probably damaging |
Het |
Ahctf1 |
A |
T |
1: 179,591,038 (GRCm39) |
D1247E |
probably benign |
Het |
Alms1 |
T |
A |
6: 85,606,192 (GRCm39) |
M2614K |
possibly damaging |
Het |
Alx3 |
A |
G |
3: 107,512,292 (GRCm39) |
H310R |
probably damaging |
Het |
Ambra1 |
C |
T |
2: 91,741,773 (GRCm39) |
T1016M |
probably damaging |
Het |
Ankrd35 |
A |
G |
3: 96,591,331 (GRCm39) |
E539G |
probably damaging |
Het |
Aptx |
A |
G |
4: 40,695,145 (GRCm39) |
|
probably benign |
Het |
Arsi |
C |
T |
18: 61,050,058 (GRCm39) |
R314C |
probably benign |
Het |
Atp1a3 |
T |
C |
7: 24,688,989 (GRCm39) |
|
probably benign |
Het |
Avl9 |
G |
T |
6: 56,713,468 (GRCm39) |
R242L |
probably benign |
Het |
Bicra |
G |
T |
7: 15,705,812 (GRCm39) |
T1543K |
probably benign |
Het |
Bltp2 |
T |
A |
11: 78,177,404 (GRCm39) |
V1903E |
possibly damaging |
Het |
Bzw2 |
A |
C |
12: 36,180,014 (GRCm39) |
I71S |
probably damaging |
Het |
Camk2a |
C |
T |
18: 61,093,079 (GRCm39) |
A302V |
probably damaging |
Het |
Ccdc12 |
A |
G |
9: 110,485,665 (GRCm39) |
E12G |
possibly damaging |
Het |
Cd300lb |
A |
T |
11: 114,819,164 (GRCm39) |
F19Y |
probably benign |
Het |
Clcn3 |
A |
T |
8: 61,380,330 (GRCm39) |
C535* |
probably null |
Het |
Cntnap5c |
A |
G |
17: 58,506,012 (GRCm39) |
T679A |
probably benign |
Het |
Cpsf7 |
G |
A |
19: 10,516,993 (GRCm39) |
S365N |
possibly damaging |
Het |
Cspg4b |
T |
A |
13: 113,505,310 (GRCm39) |
S2146R |
probably benign |
Het |
Cyp20a1 |
T |
C |
1: 60,426,285 (GRCm39) |
|
probably benign |
Het |
Decr2 |
A |
T |
17: 26,302,027 (GRCm39) |
N234K |
probably benign |
Het |
Def8 |
G |
A |
8: 124,183,234 (GRCm39) |
A278T |
probably damaging |
Het |
Dnah12 |
T |
C |
14: 26,494,601 (GRCm39) |
F1300L |
probably damaging |
Het |
Dock1 |
T |
C |
7: 134,331,793 (GRCm39) |
|
probably benign |
Het |
Dpy19l4 |
A |
T |
4: 11,267,619 (GRCm39) |
N440K |
probably damaging |
Het |
Exoc6b |
A |
G |
6: 84,831,681 (GRCm39) |
|
probably null |
Het |
Fam184b |
A |
G |
5: 45,712,536 (GRCm39) |
|
probably benign |
Het |
Fcho1 |
A |
T |
8: 72,161,597 (GRCm39) |
S858T |
probably damaging |
Het |
Fgfr1 |
A |
G |
8: 26,058,214 (GRCm39) |
D430G |
possibly damaging |
Het |
Fmnl3 |
T |
C |
15: 99,219,013 (GRCm39) |
T807A |
probably damaging |
Het |
Gabra5 |
T |
C |
7: 57,063,476 (GRCm39) |
Y316C |
probably damaging |
Het |
Gh |
A |
G |
11: 106,192,346 (GRCm39) |
L16P |
probably damaging |
Het |
Glipr2 |
A |
T |
4: 43,970,532 (GRCm39) |
I87F |
probably damaging |
Het |
Glrb |
T |
A |
3: 80,763,221 (GRCm39) |
I259F |
probably damaging |
Het |
Gpr63 |
T |
C |
4: 25,007,651 (GRCm39) |
L125P |
probably damaging |
Het |
Grb2 |
A |
G |
11: 115,546,251 (GRCm39) |
Y37H |
probably damaging |
Het |
Haus2 |
G |
A |
2: 120,449,449 (GRCm39) |
|
probably benign |
Het |
Hmgcr |
T |
C |
13: 96,788,653 (GRCm39) |
N749S |
probably damaging |
Het |
Igf1r |
T |
C |
7: 67,814,990 (GRCm39) |
V297A |
probably damaging |
Het |
Il12rb2 |
G |
T |
6: 67,293,270 (GRCm39) |
P69H |
probably damaging |
Het |
Ints3 |
C |
A |
3: 90,315,818 (GRCm39) |
M315I |
probably benign |
Het |
Izumo2 |
C |
T |
7: 44,364,833 (GRCm39) |
T116I |
probably benign |
Het |
Kctd19 |
A |
C |
8: 106,121,993 (GRCm39) |
Y185D |
probably damaging |
Het |
Lama4 |
A |
G |
10: 38,936,218 (GRCm39) |
N631S |
possibly damaging |
Het |
Lama5 |
T |
G |
2: 179,819,872 (GRCm39) |
|
probably null |
Het |
Lamc1 |
A |
C |
1: 153,138,185 (GRCm39) |
L223R |
probably damaging |
Het |
Lgr4 |
G |
A |
2: 109,828,010 (GRCm39) |
|
probably null |
Het |
Loxhd1 |
T |
C |
18: 77,427,196 (GRCm39) |
L398P |
probably damaging |
Het |
Mapk9 |
T |
A |
11: 49,757,866 (GRCm39) |
D103E |
possibly damaging |
Het |
Marchf6 |
T |
C |
15: 31,469,678 (GRCm39) |
|
probably benign |
Het |
Mlxipl |
G |
A |
5: 135,162,043 (GRCm39) |
|
probably benign |
Het |
Mrgbp |
C |
A |
2: 180,225,231 (GRCm39) |
D62E |
probably benign |
Het |
Mtap |
A |
T |
4: 89,070,235 (GRCm39) |
|
probably benign |
Het |
Myt1 |
G |
A |
2: 181,443,664 (GRCm39) |
G497S |
probably damaging |
Het |
Naa25 |
T |
G |
5: 121,545,247 (GRCm39) |
|
probably benign |
Het |
Nfat5 |
C |
T |
8: 108,065,707 (GRCm39) |
R156W |
probably damaging |
Het |
Nkpd1 |
T |
C |
7: 19,253,852 (GRCm39) |
C73R |
probably benign |
Het |
Nup210l |
T |
C |
3: 90,027,218 (GRCm39) |
I200T |
probably damaging |
Het |
Nvl |
C |
A |
1: 180,941,698 (GRCm39) |
D581Y |
probably damaging |
Het |
Or51a6 |
T |
C |
7: 102,604,185 (GRCm39) |
M208V |
probably benign |
Het |
Or51f2 |
T |
C |
7: 102,527,068 (GRCm39) |
V247A |
probably benign |
Het |
Or5t17 |
T |
A |
2: 86,832,710 (GRCm39) |
Y132* |
probably null |
Het |
Or8b1c |
A |
G |
9: 38,384,612 (GRCm39) |
T190A |
probably benign |
Het |
Or9q1 |
T |
C |
19: 13,805,050 (GRCm39) |
T237A |
probably damaging |
Het |
Pcdh7 |
G |
T |
5: 58,070,590 (GRCm39) |
E1089D |
probably benign |
Het |
Pik3cd |
A |
G |
4: 149,740,836 (GRCm39) |
|
probably null |
Het |
Plekhh2 |
A |
T |
17: 84,864,820 (GRCm39) |
K69N |
probably damaging |
Het |
Ptgdr2 |
G |
A |
19: 10,917,792 (GRCm39) |
C103Y |
probably damaging |
Het |
Rrad |
A |
C |
8: 105,355,299 (GRCm39) |
H236Q |
probably benign |
Het |
Rslcan18 |
C |
T |
13: 67,246,533 (GRCm39) |
A236T |
probably benign |
Het |
Ryr2 |
C |
A |
13: 11,839,265 (GRCm39) |
D503Y |
probably damaging |
Het |
Siglec1 |
T |
C |
2: 130,916,980 (GRCm39) |
T1092A |
probably benign |
Het |
Siglecf |
A |
G |
7: 43,005,350 (GRCm39) |
T437A |
probably benign |
Het |
Spta1 |
A |
T |
1: 174,032,839 (GRCm39) |
Q965H |
probably damaging |
Het |
Stk10 |
A |
T |
11: 32,539,460 (GRCm39) |
E280V |
probably benign |
Het |
Tfg |
T |
C |
16: 56,511,351 (GRCm39) |
Y326C |
possibly damaging |
Het |
Tpp2 |
T |
A |
1: 43,999,299 (GRCm39) |
S358T |
possibly damaging |
Het |
Trim25 |
G |
T |
11: 88,906,598 (GRCm39) |
V437L |
probably benign |
Het |
Ttn |
T |
C |
2: 76,574,027 (GRCm39) |
D25622G |
probably damaging |
Het |
Ube3b |
T |
A |
5: 114,536,912 (GRCm39) |
S303R |
probably benign |
Het |
Ush2a |
T |
A |
1: 188,310,688 (GRCm39) |
V2088D |
probably damaging |
Het |
Vmn2r103 |
A |
G |
17: 20,032,241 (GRCm39) |
T672A |
probably damaging |
Het |
Wdr11 |
G |
T |
7: 129,200,785 (GRCm39) |
G79C |
probably damaging |
Het |
Wdr89 |
T |
A |
12: 75,679,367 (GRCm39) |
T296S |
probably benign |
Het |
Zdhhc24 |
T |
A |
19: 4,930,402 (GRCm39) |
L179M |
possibly damaging |
Het |
Zfp981 |
T |
C |
4: 146,622,217 (GRCm39) |
C381R |
probably damaging |
Het |
Zim1 |
A |
G |
7: 6,679,947 (GRCm39) |
I572T |
probably benign |
Het |
|
Other mutations in Eprs1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00528:Eprs1
|
APN |
1 |
185,139,345 (GRCm39) |
missense |
probably benign |
0.11 |
IGL00532:Eprs1
|
APN |
1 |
185,139,345 (GRCm39) |
missense |
probably benign |
0.11 |
IGL00543:Eprs1
|
APN |
1 |
185,139,345 (GRCm39) |
missense |
probably benign |
0.11 |
IGL00553:Eprs1
|
APN |
1 |
185,139,345 (GRCm39) |
missense |
probably benign |
0.11 |
IGL00574:Eprs1
|
APN |
1 |
185,139,345 (GRCm39) |
missense |
probably benign |
0.11 |
IGL00583:Eprs1
|
APN |
1 |
185,139,345 (GRCm39) |
missense |
probably benign |
0.11 |
IGL00946:Eprs1
|
APN |
1 |
185,139,898 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01062:Eprs1
|
APN |
1 |
185,111,812 (GRCm39) |
missense |
probably benign |
0.19 |
IGL01477:Eprs1
|
APN |
1 |
185,143,572 (GRCm39) |
splice site |
probably benign |
|
IGL01608:Eprs1
|
APN |
1 |
185,117,311 (GRCm39) |
unclassified |
probably benign |
|
IGL01767:Eprs1
|
APN |
1 |
185,117,112 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02136:Eprs1
|
APN |
1 |
185,117,180 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02302:Eprs1
|
APN |
1 |
185,119,321 (GRCm39) |
splice site |
probably benign |
|
IGL02528:Eprs1
|
APN |
1 |
185,145,686 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02631:Eprs1
|
APN |
1 |
185,160,095 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02989:Eprs1
|
APN |
1 |
185,150,563 (GRCm39) |
missense |
probably benign |
0.31 |
IGL03004:Eprs1
|
APN |
1 |
185,114,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R0003:Eprs1
|
UTSW |
1 |
185,146,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R0179:Eprs1
|
UTSW |
1 |
185,145,744 (GRCm39) |
missense |
probably benign |
|
R0783:Eprs1
|
UTSW |
1 |
185,130,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R1319:Eprs1
|
UTSW |
1 |
185,117,159 (GRCm39) |
missense |
probably damaging |
1.00 |
R1335:Eprs1
|
UTSW |
1 |
185,119,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R1514:Eprs1
|
UTSW |
1 |
185,114,031 (GRCm39) |
missense |
probably damaging |
0.99 |
R1590:Eprs1
|
UTSW |
1 |
185,133,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R1688:Eprs1
|
UTSW |
1 |
185,117,093 (GRCm39) |
missense |
probably damaging |
0.99 |
R1725:Eprs1
|
UTSW |
1 |
185,139,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R2182:Eprs1
|
UTSW |
1 |
185,111,939 (GRCm39) |
splice site |
probably null |
|
R2228:Eprs1
|
UTSW |
1 |
185,099,734 (GRCm39) |
missense |
probably damaging |
1.00 |
R2336:Eprs1
|
UTSW |
1 |
185,143,571 (GRCm39) |
splice site |
probably benign |
|
R2338:Eprs1
|
UTSW |
1 |
185,148,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R2439:Eprs1
|
UTSW |
1 |
185,111,939 (GRCm39) |
splice site |
probably null |
|
R2914:Eprs1
|
UTSW |
1 |
185,111,939 (GRCm39) |
splice site |
probably null |
|
R3001:Eprs1
|
UTSW |
1 |
185,156,588 (GRCm39) |
critical splice donor site |
probably null |
|
R3002:Eprs1
|
UTSW |
1 |
185,156,588 (GRCm39) |
critical splice donor site |
probably null |
|
R3003:Eprs1
|
UTSW |
1 |
185,156,588 (GRCm39) |
critical splice donor site |
probably null |
|
R3547:Eprs1
|
UTSW |
1 |
185,111,939 (GRCm39) |
splice site |
probably null |
|
R3775:Eprs1
|
UTSW |
1 |
185,105,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R3878:Eprs1
|
UTSW |
1 |
185,148,150 (GRCm39) |
critical splice donor site |
probably null |
|
R3902:Eprs1
|
UTSW |
1 |
185,111,939 (GRCm39) |
splice site |
probably null |
|
R3913:Eprs1
|
UTSW |
1 |
185,111,939 (GRCm39) |
splice site |
probably null |
|
R4579:Eprs1
|
UTSW |
1 |
185,133,804 (GRCm39) |
missense |
probably damaging |
1.00 |
R4664:Eprs1
|
UTSW |
1 |
185,105,273 (GRCm39) |
intron |
probably benign |
|
R4680:Eprs1
|
UTSW |
1 |
185,118,475 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4712:Eprs1
|
UTSW |
1 |
185,160,305 (GRCm39) |
missense |
probably benign |
0.00 |
R4749:Eprs1
|
UTSW |
1 |
185,128,327 (GRCm39) |
missense |
probably damaging |
0.97 |
R4995:Eprs1
|
UTSW |
1 |
185,142,336 (GRCm39) |
intron |
probably benign |
|
R5154:Eprs1
|
UTSW |
1 |
185,145,662 (GRCm39) |
missense |
probably damaging |
1.00 |
R5640:Eprs1
|
UTSW |
1 |
185,106,381 (GRCm39) |
missense |
probably benign |
0.34 |
R5662:Eprs1
|
UTSW |
1 |
185,126,622 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6037:Eprs1
|
UTSW |
1 |
185,128,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R6037:Eprs1
|
UTSW |
1 |
185,128,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R6151:Eprs1
|
UTSW |
1 |
185,139,951 (GRCm39) |
critical splice donor site |
probably null |
|
R6387:Eprs1
|
UTSW |
1 |
185,119,281 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6647:Eprs1
|
UTSW |
1 |
185,146,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R6701:Eprs1
|
UTSW |
1 |
185,103,087 (GRCm39) |
missense |
probably damaging |
0.99 |
R6997:Eprs1
|
UTSW |
1 |
185,128,360 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7295:Eprs1
|
UTSW |
1 |
185,150,407 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7305:Eprs1
|
UTSW |
1 |
185,111,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R7729:Eprs1
|
UTSW |
1 |
185,145,366 (GRCm39) |
missense |
probably damaging |
1.00 |
R7732:Eprs1
|
UTSW |
1 |
185,105,136 (GRCm39) |
missense |
probably benign |
0.01 |
R7733:Eprs1
|
UTSW |
1 |
185,129,358 (GRCm39) |
missense |
probably benign |
|
R7826:Eprs1
|
UTSW |
1 |
185,139,165 (GRCm39) |
missense |
probably damaging |
0.96 |
R7988:Eprs1
|
UTSW |
1 |
185,150,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R8071:Eprs1
|
UTSW |
1 |
185,126,653 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8157:Eprs1
|
UTSW |
1 |
185,130,591 (GRCm39) |
missense |
probably benign |
0.21 |
R8209:Eprs1
|
UTSW |
1 |
185,139,812 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8370:Eprs1
|
UTSW |
1 |
185,131,454 (GRCm39) |
missense |
probably damaging |
0.98 |
R8493:Eprs1
|
UTSW |
1 |
185,139,371 (GRCm39) |
nonsense |
probably null |
|
R8556:Eprs1
|
UTSW |
1 |
185,152,485 (GRCm39) |
critical splice donor site |
probably null |
|
R8877:Eprs1
|
UTSW |
1 |
185,148,071 (GRCm39) |
nonsense |
probably null |
|
R9096:Eprs1
|
UTSW |
1 |
185,139,303 (GRCm39) |
missense |
probably benign |
0.03 |
R9097:Eprs1
|
UTSW |
1 |
185,139,303 (GRCm39) |
missense |
probably benign |
0.03 |
R9112:Eprs1
|
UTSW |
1 |
185,129,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R9189:Eprs1
|
UTSW |
1 |
185,106,334 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9489:Eprs1
|
UTSW |
1 |
185,139,896 (GRCm39) |
missense |
probably benign |
0.00 |
R9489:Eprs1
|
UTSW |
1 |
185,139,895 (GRCm39) |
missense |
probably benign |
0.20 |
R9518:Eprs1
|
UTSW |
1 |
185,111,763 (GRCm39) |
missense |
probably benign |
0.00 |
R9586:Eprs1
|
UTSW |
1 |
185,139,746 (GRCm39) |
missense |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- GCTTCTTTAGCCTTCCCACAAGGTG -3'
(R):5'- TCCCCAGAGAGCTGGAATTATAGGCG -3'
Sequencing Primer
(F):5'- CCCACAAGGTGGTTGTTTGAAG -3'
(R):5'- attctctccgacatccaaataaac -3'
|
Posted On |
2013-05-09 |