Incidental Mutation 'R6997:Eprs1'
ID |
544262 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eprs1
|
Ensembl Gene |
ENSMUSG00000026615 |
Gene Name |
glutamyl-prolyl-tRNA synthetase 1 |
Synonyms |
3010002K18Rik, 2410081F06Rik, Qprs, Eprs |
MMRRC Submission |
045103-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6997 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
185095241-185160557 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 185128360 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 580
(H580R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045841
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046514]
|
AlphaFold |
Q8CGC7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046514
AA Change: H580R
PolyPhen 2
Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000045841 Gene: ENSMUSG00000026615 AA Change: H580R
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 |
|
Meta Mutation Damage Score |
0.0795 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
97% (58/60) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam3 |
T |
C |
8: 25,171,539 (GRCm39) |
Y764C |
probably benign |
Het |
Atxn1 |
C |
T |
13: 45,721,095 (GRCm39) |
V267M |
probably benign |
Het |
Cadps |
T |
A |
14: 12,505,793 (GRCm38) |
H759L |
possibly damaging |
Het |
Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
Caprin2 |
A |
G |
6: 148,779,474 (GRCm39) |
L111P |
probably damaging |
Het |
Ccl8 |
A |
T |
11: 82,006,865 (GRCm39) |
D26V |
possibly damaging |
Het |
Cdh19 |
T |
C |
1: 110,882,596 (GRCm39) |
|
probably benign |
Het |
Cnga3 |
C |
A |
1: 37,283,965 (GRCm39) |
H89Q |
probably benign |
Het |
Cnga4 |
A |
T |
7: 105,056,190 (GRCm39) |
Q264L |
probably damaging |
Het |
Coil |
A |
G |
11: 88,872,673 (GRCm39) |
T345A |
probably benign |
Het |
Cyp11b2 |
A |
G |
15: 74,723,281 (GRCm39) |
L461P |
probably damaging |
Het |
Dock2 |
T |
C |
11: 34,414,922 (GRCm39) |
E151G |
probably damaging |
Het |
Dsc1 |
C |
T |
18: 20,219,701 (GRCm39) |
|
probably null |
Het |
Dync2h1 |
A |
T |
9: 7,168,743 (GRCm39) |
C357S |
probably null |
Het |
Ebf3 |
A |
C |
7: 136,826,994 (GRCm39) |
I306R |
probably damaging |
Het |
Ermap |
A |
T |
4: 119,035,810 (GRCm39) |
F393I |
probably damaging |
Het |
Flii |
T |
C |
11: 60,613,151 (GRCm39) |
T217A |
probably benign |
Het |
Fras1 |
C |
T |
5: 96,762,732 (GRCm39) |
Q745* |
probably null |
Het |
Gja8 |
A |
G |
3: 96,826,657 (GRCm39) |
V335A |
probably benign |
Het |
Gm21560 |
A |
T |
14: 6,218,333 (GRCm38) |
N48K |
probably damaging |
Het |
Gpr158 |
C |
T |
2: 21,653,802 (GRCm39) |
T457I |
possibly damaging |
Het |
Kcnv1 |
A |
T |
15: 44,977,997 (GRCm39) |
S14T |
unknown |
Het |
Lamb2 |
T |
C |
9: 108,358,496 (GRCm39) |
Y178H |
probably damaging |
Het |
Lamc2 |
G |
A |
1: 153,012,508 (GRCm39) |
T722M |
probably benign |
Het |
Map1b |
T |
C |
13: 99,567,142 (GRCm39) |
T1860A |
unknown |
Het |
Map2k7 |
T |
C |
8: 4,294,035 (GRCm39) |
Y194H |
possibly damaging |
Het |
Map4 |
T |
A |
9: 109,881,982 (GRCm39) |
M282K |
probably benign |
Het |
Mmp10 |
A |
G |
9: 7,503,531 (GRCm39) |
I134V |
probably benign |
Het |
Mrtfa |
G |
T |
15: 80,902,649 (GRCm39) |
S220* |
probably null |
Het |
Msh5 |
A |
T |
17: 35,248,978 (GRCm39) |
L685Q |
probably damaging |
Het |
Myh1 |
T |
A |
11: 67,111,463 (GRCm39) |
I1634N |
possibly damaging |
Het |
Myh13 |
C |
T |
11: 67,217,980 (GRCm39) |
R18* |
probably null |
Het |
Myo3b |
A |
T |
2: 69,957,329 (GRCm39) |
I185L |
probably damaging |
Het |
Ninl |
G |
T |
2: 150,808,145 (GRCm39) |
H294Q |
probably benign |
Het |
Or4a79 |
G |
A |
2: 89,552,269 (GRCm39) |
A62V |
possibly damaging |
Het |
Or51b17 |
A |
T |
7: 103,542,238 (GRCm39) |
S235T |
probably benign |
Het |
Or8b44 |
T |
C |
9: 38,410,607 (GRCm39) |
I214T |
possibly damaging |
Het |
Orm3 |
T |
A |
4: 63,275,180 (GRCm39) |
L97Q |
probably damaging |
Het |
Osbpl1a |
T |
C |
18: 12,889,281 (GRCm39) |
N432S |
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,285,822 (GRCm39) |
D1020E |
probably damaging |
Het |
Pxk |
T |
A |
14: 8,122,371 (GRCm38) |
D60E |
probably benign |
Het |
Rack1 |
T |
A |
11: 48,694,752 (GRCm39) |
V198E |
probably damaging |
Het |
Ripk1 |
C |
T |
13: 34,201,100 (GRCm39) |
A271V |
probably benign |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Ryr2 |
G |
T |
13: 11,669,266 (GRCm39) |
H3513N |
possibly damaging |
Het |
Scn7a |
A |
T |
2: 66,534,147 (GRCm39) |
D509E |
probably damaging |
Het |
Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
Sfxn5 |
A |
G |
6: 85,233,414 (GRCm39) |
V181A |
probably benign |
Het |
Slc5a4b |
C |
T |
10: 75,925,812 (GRCm39) |
A198T |
probably damaging |
Het |
Sp2 |
C |
T |
11: 96,848,552 (GRCm39) |
R357H |
possibly damaging |
Het |
Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
Tnfrsf11b |
G |
A |
15: 54,115,770 (GRCm39) |
L276F |
probably damaging |
Het |
Usp37 |
A |
G |
1: 74,493,118 (GRCm39) |
V723A |
probably benign |
Het |
Usp45 |
G |
T |
4: 21,781,844 (GRCm39) |
R36I |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,838,737 (GRCm39) |
D2269G |
probably damaging |
Het |
Vmn2r18 |
T |
A |
5: 151,485,338 (GRCm39) |
M719L |
possibly damaging |
Het |
Vmn2r52 |
C |
T |
7: 9,902,998 (GRCm39) |
G477R |
probably benign |
Het |
Vmn2r60 |
C |
A |
7: 41,791,716 (GRCm39) |
N546K |
probably benign |
Het |
Wnt8b |
G |
A |
19: 44,500,280 (GRCm39) |
C289Y |
probably damaging |
Het |
Zdbf2 |
T |
G |
1: 63,329,925 (GRCm39) |
M10R |
probably benign |
Het |
Zfp945 |
T |
A |
17: 23,071,543 (GRCm39) |
K140* |
probably null |
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 |
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'- GTCGCTTAACTCGCATCTTG -3'
(R):5'- TATCCTATCCCAAAGATCCTTGAG -3'
Sequencing Primer
(F):5'- GTTTTCTTTGATCATTCAGAATCCTG -3'
(R):5'- CTGATGAGCAGCTCAGAACTAGC -3'
|
Posted On |
2019-05-13 |