Incidental Mutation 'R8071:Eprs1'
| ID |
628891 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eprs1
|
| Ensembl Gene |
ENSMUSG00000026615 |
| Gene Name |
glutamyl-prolyl-tRNA synthetase 1 |
| Synonyms |
3010002K18Rik, 2410081F06Rik, Qprs, Eprs |
| MMRRC Submission |
067506-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8071 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
185095241-185160557 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 185126653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 530
(V530L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045841
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046514]
|
| AlphaFold |
Q8CGC7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046514
AA Change: V530L
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000045841
Gene: ENSMUSG00000026615
AA Change: V530L
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 95.5%
|
| Validation Efficiency |
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acads |
T |
C |
5: 115,251,226 (GRCm39) |
E86G |
probably benign |
Het |
| Agmo |
A |
G |
12: 37,448,728 (GRCm39) |
T217A |
probably damaging |
Het |
| Arhgap39 |
A |
G |
15: 76,621,702 (GRCm39) |
S300P |
probably benign |
Het |
| Casp12 |
T |
C |
9: 5,346,647 (GRCm39) |
L58P |
probably damaging |
Het |
| Ccar2 |
T |
C |
14: 70,389,902 (GRCm39) |
T24A |
probably benign |
Het |
| Ccndbp1 |
C |
A |
2: 120,845,046 (GRCm39) |
T321K |
unknown |
Het |
| Cd200r3 |
G |
A |
16: 44,774,503 (GRCm39) |
C172Y |
probably damaging |
Het |
| Chd2 |
T |
A |
7: 73,187,132 (GRCm39) |
H9L |
probably benign |
Het |
| Cracdl |
C |
A |
1: 37,663,010 (GRCm39) |
E963* |
probably null |
Het |
| Cramp1 |
T |
A |
17: 25,201,674 (GRCm39) |
S603C |
probably damaging |
Het |
| Crtac1 |
C |
T |
19: 42,286,239 (GRCm39) |
R448H |
probably damaging |
Het |
| Csmd2 |
A |
T |
4: 128,287,331 (GRCm39) |
Y1022F |
|
Het |
| Ctns |
T |
C |
11: 73,075,760 (GRCm39) |
Y363C |
probably damaging |
Het |
| D630044L22Rik |
A |
G |
17: 26,179,118 (GRCm39) |
T15A |
possibly damaging |
Het |
| Dhx38 |
A |
C |
8: 110,285,333 (GRCm39) |
I444M |
probably benign |
Het |
| Dnah14 |
A |
T |
1: 181,443,459 (GRCm39) |
I450F |
possibly damaging |
Het |
| Dpf1 |
T |
C |
7: 29,013,566 (GRCm39) |
F245L |
probably benign |
Het |
| Efr3b |
A |
G |
12: 4,032,898 (GRCm39) |
V269A |
probably benign |
Het |
| Eps8l2 |
A |
G |
7: 140,922,860 (GRCm39) |
N41S |
probably damaging |
Het |
| Erbb4 |
T |
C |
1: 68,435,470 (GRCm39) |
I142M |
probably damaging |
Het |
| Fhip1a |
T |
C |
3: 85,637,868 (GRCm39) |
M144V |
probably damaging |
Het |
| Flnc |
A |
T |
6: 29,457,445 (GRCm39) |
D2381V |
probably damaging |
Het |
| Fndc1 |
T |
A |
17: 7,991,362 (GRCm39) |
D778V |
unknown |
Het |
| Galnt3 |
A |
G |
2: 65,921,555 (GRCm39) |
I492T |
probably benign |
Het |
| Gigyf2 |
T |
C |
1: 87,374,155 (GRCm39) |
M1261T |
probably damaging |
Het |
| Haus8 |
A |
G |
8: 71,708,695 (GRCm39) |
F126S |
probably benign |
Het |
| Hif3a |
A |
G |
7: 16,782,686 (GRCm39) |
L293S |
probably damaging |
Het |
| Ino80c |
G |
A |
18: 24,239,707 (GRCm39) |
T200I |
unknown |
Het |
| Jag1 |
T |
A |
2: 136,943,717 (GRCm39) |
M160L |
probably benign |
Het |
| Kcnj12 |
C |
A |
11: 60,960,825 (GRCm39) |
H374Q |
probably damaging |
Het |
| Lrrc27 |
A |
G |
7: 138,816,902 (GRCm39) |
I433M |
probably benign |
Het |
| Lyzl4 |
C |
T |
9: 121,407,160 (GRCm39) |
W123* |
probably null |
Het |
| Map2k4 |
A |
T |
11: 65,597,827 (GRCm39) |
C264S |
|
Het |
| Mmrn1 |
C |
T |
6: 60,921,508 (GRCm39) |
|
probably benign |
Het |
| Mug1 |
C |
T |
6: 121,850,631 (GRCm39) |
T709I |
probably benign |
Het |
| Myo9a |
T |
A |
9: 59,781,931 (GRCm39) |
W1706R |
probably benign |
Het |
| Nlrp5 |
A |
G |
7: 23,117,869 (GRCm39) |
E531G |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Pcdhb11 |
A |
C |
18: 37,555,422 (GRCm39) |
I251L |
probably benign |
Het |
| Per3 |
A |
G |
4: 151,113,270 (GRCm39) |
S353P |
probably damaging |
Het |
| Piezo1 |
T |
C |
8: 123,213,750 (GRCm39) |
E1738G |
probably null |
Het |
| Prr14l |
T |
C |
5: 32,988,508 (GRCm39) |
D329G |
probably benign |
Het |
| Ptpn23 |
G |
T |
9: 110,217,267 (GRCm39) |
P863Q |
probably damaging |
Het |
| Ptpn23 |
G |
T |
9: 110,217,268 (GRCm39) |
P863T |
possibly damaging |
Het |
| Ptprq |
T |
C |
10: 107,479,896 (GRCm39) |
K1125E |
possibly damaging |
Het |
| Rapgef2 |
T |
G |
3: 79,000,343 (GRCm39) |
T351P |
probably damaging |
Het |
| Rbl2 |
A |
G |
8: 91,840,617 (GRCm39) |
Y923C |
probably damaging |
Het |
| Rimbp3 |
T |
C |
16: 17,028,727 (GRCm39) |
V717A |
probably benign |
Het |
| Rims1 |
C |
T |
1: 22,358,760 (GRCm39) |
W182* |
probably null |
Het |
| Rnmt |
A |
G |
18: 68,440,723 (GRCm39) |
K129E |
probably benign |
Het |
| Ruvbl1 |
T |
C |
6: 88,450,108 (GRCm39) |
F93S |
probably damaging |
Het |
| Scamp5 |
T |
C |
9: 57,350,969 (GRCm39) |
Y231C |
probably damaging |
Het |
| Sfxn5 |
T |
A |
6: 85,244,921 (GRCm39) |
|
probably null |
Het |
| Skic2 |
A |
T |
17: 35,068,975 (GRCm39) |
V8D |
probably benign |
Het |
| Slc12a1 |
T |
C |
2: 125,028,234 (GRCm39) |
F510S |
probably damaging |
Het |
| Sowahb |
T |
C |
5: 93,190,922 (GRCm39) |
Y599C |
probably damaging |
Het |
| Speer4e1 |
T |
C |
5: 14,987,111 (GRCm39) |
N98S |
probably damaging |
Het |
| Stat3 |
T |
C |
11: 100,784,807 (GRCm39) |
N553S |
probably benign |
Het |
| Sult6b2 |
A |
T |
6: 142,735,868 (GRCm39) |
L242Q |
probably damaging |
Het |
| Tacc3 |
C |
T |
5: 33,821,169 (GRCm39) |
R98W |
possibly damaging |
Het |
| Tuba4a |
C |
T |
1: 75,193,595 (GRCm39) |
R112H |
|
Het |
| Ubr3 |
T |
A |
2: 69,819,220 (GRCm39) |
S1337T |
probably damaging |
Het |
| Vmn2r69 |
A |
T |
7: 85,055,713 (GRCm39) |
C808* |
probably null |
Het |
| Wnt16 |
G |
A |
6: 22,288,997 (GRCm39) |
A105T |
probably benign |
Het |
| Zfp692 |
C |
T |
11: 58,198,560 (GRCm39) |
S50L |
probably damaging |
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 |
|
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 |
|
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'- CCACTTAGTGTTCCTGTGCT -3'
(R):5'- TCCTAAGGAATCATACACTGTAACT -3'
Sequencing Primer
(F):5'- ACTTAGTGTTCCTGTGCTGTTAC -3'
(R):5'- GGTAGATTCCTATTGCTGCAGACAC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation