Incidental Mutation 'R7733:Eprs1'
| ID |
595957 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eprs1
|
| Ensembl Gene |
ENSMUSG00000026615 |
| Gene Name |
glutamyl-prolyl-tRNA synthetase 1 |
| Synonyms |
3010002K18Rik, 2410081F06Rik, Qprs, Eprs |
| MMRRC Submission |
045789-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7733 (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 T
at 185129358 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 615
(H615L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045841
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046514]
|
| AlphaFold |
Q8CGC7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046514
AA Change: H615L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000045841
Gene: ENSMUSG00000026615
AA Change: H615L
| 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 |
0.0955 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
| Validation Efficiency |
100% (83/83) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530400C23Rik |
T |
A |
6: 133,271,240 (GRCm39) |
S95T |
probably benign |
Het |
| Abca8a |
A |
G |
11: 109,945,413 (GRCm39) |
F1070L |
probably benign |
Het |
| Acsl3 |
G |
C |
1: 78,665,953 (GRCm39) |
|
probably null |
Het |
| Adarb2 |
T |
A |
13: 8,802,644 (GRCm39) |
S640T |
possibly damaging |
Het |
| Adgre5 |
T |
C |
8: 84,456,025 (GRCm39) |
D257G |
probably benign |
Het |
| Adora2b |
A |
T |
11: 62,156,165 (GRCm39) |
I205F |
possibly damaging |
Het |
| Asb14 |
A |
G |
14: 26,634,309 (GRCm39) |
M505V |
probably benign |
Het |
| Atrnl1 |
T |
C |
19: 57,690,420 (GRCm39) |
V876A |
probably benign |
Het |
| AU040320 |
A |
G |
4: 126,729,322 (GRCm39) |
N495D |
possibly damaging |
Het |
| Bcam |
A |
T |
7: 19,494,313 (GRCm39) |
V361E |
probably benign |
Het |
| Ccdc7a |
T |
A |
8: 129,719,533 (GRCm39) |
E247V |
probably damaging |
Het |
| Cd84 |
T |
A |
1: 171,668,226 (GRCm39) |
M1K |
probably null |
Het |
| Cfap43 |
C |
T |
19: 47,886,432 (GRCm39) |
R61H |
possibly damaging |
Het |
| Clec4a1 |
A |
G |
6: 122,909,109 (GRCm39) |
D159G |
possibly damaging |
Het |
| Ctcfl |
C |
T |
2: 172,958,985 (GRCm39) |
R247Q |
probably benign |
Het |
| Ctdnep1 |
G |
A |
11: 69,880,835 (GRCm39) |
R236Q |
probably damaging |
Het |
| Cwf19l2 |
A |
T |
9: 3,450,066 (GRCm39) |
H589L |
probably benign |
Het |
| Cyp2u1 |
G |
T |
3: 131,096,676 (GRCm39) |
A34E |
probably benign |
Het |
| Cyp4x1 |
A |
G |
4: 114,977,391 (GRCm39) |
S281P |
possibly damaging |
Het |
| Dag1 |
T |
C |
9: 108,086,047 (GRCm39) |
T365A |
probably benign |
Het |
| Dhx57 |
A |
T |
17: 80,572,503 (GRCm39) |
|
probably null |
Het |
| Dnajb1 |
T |
G |
8: 84,335,006 (GRCm39) |
S16A |
probably benign |
Het |
| Dsc2 |
A |
T |
18: 20,181,372 (GRCm39) |
L145Q |
probably benign |
Het |
| Dsc2 |
G |
C |
18: 20,181,373 (GRCm39) |
L145V |
probably benign |
Het |
| Eefsec |
T |
C |
6: 88,353,202 (GRCm39) |
T156A |
possibly damaging |
Het |
| Eif6 |
T |
A |
2: 155,665,152 (GRCm39) |
D169V |
probably benign |
Het |
| Ell3 |
C |
A |
2: 121,273,001 (GRCm39) |
G3V |
possibly damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,764,223 (GRCm39) |
Y630C |
unknown |
Het |
| Fcgbpl1 |
A |
T |
7: 27,839,390 (GRCm39) |
D401V |
probably damaging |
Het |
| G6pc2 |
C |
T |
2: 69,050,527 (GRCm39) |
Q51* |
probably null |
Het |
| Glt8d1 |
C |
T |
14: 30,723,935 (GRCm39) |
|
probably benign |
Het |
| Gpr4 |
T |
C |
7: 18,956,635 (GRCm39) |
Y186H |
probably damaging |
Het |
| Grhpr |
T |
C |
4: 44,981,494 (GRCm39) |
|
probably benign |
Het |
| Gsdma3 |
A |
G |
11: 98,526,041 (GRCm39) |
H264R |
probably damaging |
Het |
| Hcfc2 |
A |
G |
10: 82,575,013 (GRCm39) |
Y224C |
probably benign |
Het |
| Helz2 |
A |
G |
2: 180,872,148 (GRCm39) |
F2608S |
possibly damaging |
Het |
| Herc2 |
C |
T |
7: 55,838,412 (GRCm39) |
T3313M |
probably damaging |
Het |
| Hmgcl |
A |
T |
4: 135,687,394 (GRCm39) |
H223L |
probably benign |
Het |
| Igf2r |
A |
G |
17: 12,958,256 (GRCm39) |
V139A |
possibly damaging |
Het |
| Iqcn |
A |
G |
8: 71,170,100 (GRCm39) |
T1397A |
possibly damaging |
Het |
| Kif5a |
T |
A |
10: 127,072,609 (GRCm39) |
T727S |
probably benign |
Het |
| Kifc1 |
G |
A |
17: 34,102,543 (GRCm39) |
R357W |
probably damaging |
Het |
| Krt81 |
T |
A |
15: 101,361,395 (GRCm39) |
S62C |
probably damaging |
Het |
| Lgi2 |
T |
C |
5: 52,695,873 (GRCm39) |
N362S |
probably benign |
Het |
| Lig1 |
G |
T |
7: 13,030,157 (GRCm39) |
R378L |
possibly damaging |
Het |
| Map3k13 |
C |
T |
16: 21,740,436 (GRCm39) |
R588C |
probably damaging |
Het |
| Mov10l1 |
T |
A |
15: 88,909,004 (GRCm39) |
F1008L |
probably damaging |
Het |
| Nr4a2 |
A |
G |
2: 57,002,333 (GRCm39) |
V40A |
probably benign |
Het |
| Nrde2 |
A |
T |
12: 100,110,399 (GRCm39) |
C206S |
possibly damaging |
Het |
| Or4f14d |
C |
T |
2: 111,960,386 (GRCm39) |
V257I |
probably benign |
Het |
| Parp1 |
T |
C |
1: 180,427,777 (GRCm39) |
|
probably null |
Het |
| Pcdhb12 |
A |
G |
18: 37,570,089 (GRCm39) |
T412A |
probably damaging |
Het |
| Plekhh2 |
T |
A |
17: 84,890,952 (GRCm39) |
Y839* |
probably null |
Het |
| Pnpla6 |
T |
A |
8: 3,572,660 (GRCm39) |
F316I |
probably benign |
Het |
| Prcp |
C |
T |
7: 92,550,506 (GRCm39) |
T101M |
probably damaging |
Het |
| Prex2 |
G |
T |
1: 11,252,183 (GRCm39) |
R1076L |
probably benign |
Het |
| Prpf40b |
T |
C |
15: 99,206,224 (GRCm39) |
|
probably null |
Het |
| Psd3 |
T |
G |
8: 68,573,568 (GRCm39) |
K204N |
possibly damaging |
Het |
| Ptpro |
C |
A |
6: 137,391,284 (GRCm39) |
C801* |
probably null |
Het |
| Ptprt |
A |
G |
2: 161,417,707 (GRCm39) |
V923A |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,000,383 (GRCm39) |
D824E |
probably benign |
Het |
| Rasgrf1 |
A |
G |
9: 89,863,780 (GRCm39) |
D582G |
probably benign |
Het |
| Rfc2 |
T |
C |
5: 134,622,070 (GRCm39) |
L183P |
probably damaging |
Het |
| Rnf114 |
T |
C |
2: 167,354,438 (GRCm39) |
V173A |
probably damaging |
Het |
| Scn3a |
T |
A |
2: 65,338,994 (GRCm39) |
I562F |
probably benign |
Het |
| Setmar |
T |
C |
6: 108,053,088 (GRCm39) |
I194T |
probably damaging |
Het |
| Sptb |
A |
T |
12: 76,644,695 (GRCm39) |
|
probably null |
Het |
| Sptbn2 |
C |
G |
19: 4,799,040 (GRCm39) |
R2037G |
probably benign |
Het |
| Sptlc3 |
G |
T |
2: 139,473,288 (GRCm39) |
M512I |
possibly damaging |
Het |
| Svep1 |
C |
A |
4: 58,049,239 (GRCm39) |
A3423S |
probably benign |
Het |
| Sycp1 |
T |
C |
3: 102,803,278 (GRCm39) |
T511A |
probably benign |
Het |
| Synm |
T |
A |
7: 67,385,693 (GRCm39) |
|
probably null |
Het |
| Tada1 |
C |
T |
1: 166,217,511 (GRCm39) |
P216L |
probably damaging |
Het |
| Tas2r117 |
T |
A |
6: 132,780,138 (GRCm39) |
M92K |
probably benign |
Het |
| Thoc2l |
T |
C |
5: 104,667,826 (GRCm39) |
F783L |
possibly damaging |
Het |
| Thsd1 |
T |
C |
8: 22,748,737 (GRCm39) |
L536P |
probably damaging |
Het |
| Timp2 |
T |
G |
11: 118,208,355 (GRCm39) |
|
probably null |
Het |
| Trak1 |
T |
A |
9: 121,196,291 (GRCm39) |
V41D |
possibly damaging |
Het |
| Ubqln3 |
T |
A |
7: 103,790,283 (GRCm39) |
L602F |
probably damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,661,443 (GRCm39) |
F791L |
probably benign |
Het |
| Wbp4 |
A |
G |
14: 79,714,480 (GRCm39) |
|
probably null |
Het |
| Zng1 |
T |
C |
19: 24,918,158 (GRCm39) |
D204G |
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 |
|
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'- CCCAATGTAGTTTGTGGCATTC -3'
(R):5'- TTGTACATGCTAGGCTATCTGC -3'
Sequencing Primer
(F):5'- TTTGTAGAAATGCAGATGGAAA -3'
(R):5'- CAGGCCCAGGTACATCTTTATAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation