Incidental Mutation 'R0179:Eprs1'
| ID |
23015 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eprs1
|
| Ensembl Gene |
ENSMUSG00000026615 |
| Gene Name |
glutamyl-prolyl-tRNA synthetase 1 |
| Synonyms |
3010002K18Rik, 2410081F06Rik, Qprs, Eprs |
| MMRRC Submission |
038447-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0179 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
1 |
| Chromosomal Location |
185095241-185160557 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 185145744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1184
(D1184E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045841
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046514]
|
| AlphaFold |
Q8CGC7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046514
AA Change: D1184E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000045841
Gene: ENSMUSG00000026615
AA Change: D1184E
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
98% (81/83) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
C |
T |
16: 85,592,353 (GRCm39) |
S948N |
probably benign |
Het |
| Adck1 |
A |
T |
12: 88,425,942 (GRCm39) |
M457L |
possibly damaging |
Het |
| Adprm |
A |
T |
11: 66,929,051 (GRCm39) |
H313Q |
possibly damaging |
Het |
| Adss1 |
T |
C |
12: 112,598,703 (GRCm39) |
I104T |
probably benign |
Het |
| Agxt2 |
A |
C |
15: 10,399,134 (GRCm39) |
Q435P |
possibly damaging |
Het |
| Amotl1 |
G |
A |
9: 14,460,069 (GRCm39) |
A890V |
probably benign |
Het |
| Ankrd50 |
A |
G |
3: 38,509,463 (GRCm39) |
V968A |
possibly damaging |
Het |
| Brf2 |
T |
C |
8: 27,615,896 (GRCm39) |
D163G |
possibly damaging |
Het |
| Cd226 |
C |
A |
18: 89,225,263 (GRCm39) |
N53K |
probably benign |
Het |
| Cdc42ep2 |
T |
C |
19: 5,968,636 (GRCm39) |
D23G |
probably benign |
Het |
| Cdc7 |
T |
C |
5: 107,112,905 (GRCm39) |
S8P |
probably benign |
Het |
| Cdh8 |
C |
T |
8: 99,838,344 (GRCm39) |
E499K |
possibly damaging |
Het |
| Chd7 |
T |
A |
4: 8,862,516 (GRCm39) |
F2534L |
probably benign |
Het |
| Ckb |
T |
C |
12: 111,636,610 (GRCm39) |
T255A |
probably benign |
Het |
| Cntnap5c |
G |
T |
17: 58,076,620 (GRCm39) |
W19L |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,057,871 (GRCm39) |
E1854G |
probably benign |
Het |
| Colec12 |
C |
T |
18: 9,858,921 (GRCm39) |
P568L |
unknown |
Het |
| Cop1 |
A |
G |
1: 159,077,636 (GRCm39) |
D157G |
probably benign |
Het |
| Csf2rb |
A |
C |
15: 78,220,572 (GRCm39) |
Q38P |
possibly damaging |
Het |
| Ctla2b |
T |
C |
13: 61,044,107 (GRCm39) |
D52G |
possibly damaging |
Het |
| Dcaf7 |
A |
T |
11: 105,942,623 (GRCm39) |
D190V |
probably damaging |
Het |
| Depdc5 |
T |
A |
5: 33,058,918 (GRCm39) |
|
probably benign |
Het |
| Dgkq |
A |
G |
5: 108,806,066 (GRCm39) |
|
probably benign |
Het |
| Dhrs2 |
A |
G |
14: 55,477,933 (GRCm39) |
T222A |
probably damaging |
Het |
| Dock1 |
G |
A |
7: 134,700,566 (GRCm39) |
D1109N |
probably damaging |
Het |
| E4f1 |
G |
C |
17: 24,670,411 (GRCm39) |
T92S |
possibly damaging |
Het |
| Ep400 |
A |
T |
5: 110,816,515 (GRCm39) |
S2669T |
probably damaging |
Het |
| Fpr-rs4 |
A |
T |
17: 18,242,289 (GRCm39) |
K99* |
probably null |
Het |
| Fzr1 |
A |
T |
10: 81,204,904 (GRCm39) |
|
probably benign |
Het |
| Gcc2 |
C |
T |
10: 58,112,472 (GRCm39) |
R1001C |
probably benign |
Het |
| Gm4884 |
A |
G |
7: 40,693,252 (GRCm39) |
D407G |
probably benign |
Het |
| Golga4 |
A |
T |
9: 118,389,808 (GRCm39) |
|
probably null |
Het |
| Gp2 |
T |
G |
7: 119,051,540 (GRCm39) |
D225A |
possibly damaging |
Het |
| Gramd1a |
T |
A |
7: 30,841,843 (GRCm39) |
T120S |
probably damaging |
Het |
| Hbb-bh2 |
T |
A |
7: 103,488,434 (GRCm39) |
N121I |
probably benign |
Het |
| Htr6 |
A |
T |
4: 138,789,437 (GRCm39) |
L276Q |
probably damaging |
Het |
| Itga9 |
A |
T |
9: 118,490,454 (GRCm39) |
I262F |
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,805,096 (GRCm39) |
|
probably benign |
Het |
| Large1 |
T |
C |
8: 73,825,474 (GRCm39) |
N200S |
probably benign |
Het |
| Lct |
C |
T |
1: 128,255,422 (GRCm39) |
V207I |
probably benign |
Het |
| Marf1 |
C |
A |
16: 13,969,040 (GRCm39) |
L144F |
probably damaging |
Het |
| Morc2b |
A |
T |
17: 33,355,956 (GRCm39) |
Y605* |
probably null |
Het |
| Mtus1 |
G |
T |
8: 41,455,398 (GRCm39) |
L87I |
possibly damaging |
Het |
| Muc2 |
A |
G |
7: 141,302,708 (GRCm39) |
Y17C |
probably damaging |
Het |
| Myf5 |
T |
C |
10: 107,321,779 (GRCm39) |
D5G |
possibly damaging |
Het |
| Nasp |
C |
T |
4: 116,459,354 (GRCm39) |
V375M |
probably damaging |
Het |
| Nr1h2 |
A |
T |
7: 44,201,689 (GRCm39) |
|
probably null |
Het |
| Nrg2 |
T |
C |
18: 36,155,468 (GRCm39) |
Q447R |
probably benign |
Het |
| Ntn5 |
G |
A |
7: 45,335,737 (GRCm39) |
G56D |
probably damaging |
Het |
| Oasl2 |
A |
G |
5: 115,048,973 (GRCm39) |
R138G |
probably benign |
Het |
| Or4c29 |
A |
T |
2: 88,740,237 (GRCm39) |
C167S |
possibly damaging |
Het |
| Or5b124 |
T |
A |
19: 13,610,504 (GRCm39) |
F10I |
probably damaging |
Het |
| Or9k7 |
T |
C |
10: 130,046,207 (GRCm39) |
Y264C |
probably damaging |
Het |
| Pcdhb5 |
G |
A |
18: 37,455,612 (GRCm39) |
G664D |
probably damaging |
Het |
| Ppp1r15a |
T |
C |
7: 45,174,424 (GRCm39) |
E128G |
probably damaging |
Het |
| Prpf19 |
T |
C |
19: 10,875,172 (GRCm39) |
|
probably benign |
Het |
| Ptpn3 |
T |
A |
4: 57,270,118 (GRCm39) |
T15S |
probably benign |
Het |
| R3hdm2 |
G |
A |
10: 127,330,975 (GRCm39) |
C818Y |
probably damaging |
Het |
| Rad51d |
A |
G |
11: 82,780,824 (GRCm39) |
V39A |
possibly damaging |
Het |
| Rptor |
A |
T |
11: 119,763,193 (GRCm39) |
T926S |
probably benign |
Het |
| Rwdd4a |
G |
A |
8: 47,995,742 (GRCm39) |
D41N |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Spata31g1 |
T |
C |
4: 42,972,214 (GRCm39) |
S516P |
probably benign |
Het |
| Ssbp3 |
T |
C |
4: 106,903,585 (GRCm39) |
S334P |
probably damaging |
Het |
| Suco |
A |
G |
1: 161,703,874 (GRCm39) |
|
probably benign |
Het |
| Synj1 |
T |
C |
16: 90,761,519 (GRCm39) |
K649R |
possibly damaging |
Het |
| Tdp2 |
C |
T |
13: 25,024,431 (GRCm39) |
H243Y |
possibly damaging |
Het |
| Tinag |
A |
G |
9: 76,904,164 (GRCm39) |
|
probably benign |
Het |
| Trerf1 |
T |
C |
17: 47,627,588 (GRCm39) |
|
noncoding transcript |
Het |
| Trip10 |
T |
C |
17: 57,569,349 (GRCm39) |
|
probably benign |
Het |
| Tsen54 |
A |
T |
11: 115,712,856 (GRCm39) |
S131C |
probably damaging |
Het |
| Unc5c |
A |
T |
3: 141,523,828 (GRCm39) |
R794* |
probably null |
Het |
| Vmn2r59 |
A |
T |
7: 41,696,432 (GRCm39) |
Y103* |
probably null |
Het |
| Washc5 |
A |
G |
15: 59,224,379 (GRCm39) |
V460A |
probably benign |
Het |
| Wdr87-ps |
A |
G |
7: 29,235,365 (GRCm39) |
|
noncoding transcript |
Het |
| Whamm |
A |
G |
7: 81,243,763 (GRCm39) |
T358A |
probably benign |
Het |
| Xlr4b |
C |
T |
X: 72,262,277 (GRCm39) |
|
probably benign |
Het |
| Zbbx |
C |
T |
3: 74,992,869 (GRCm39) |
|
probably benign |
Het |
| Zdhhc23 |
G |
A |
16: 43,794,066 (GRCm39) |
P203S |
probably benign |
Het |
| Zfp27 |
T |
A |
7: 29,595,850 (GRCm39) |
E38D |
possibly 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 |
|
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'- GCACACACGCATACTTCATTTGTCACT -3'
(R):5'- TGCCTGAGCGATATACAGTAATCAGAGT -3'
Sequencing Primer
(F):5'- CACTGTGTTCTTCTCAGGATTTG -3'
(R):5'- acctcctgcctctaccac -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation