Incidental Mutation 'R1688:Eprs1'
| ID |
189473 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eprs1
|
| Ensembl Gene |
ENSMUSG00000026615 |
| Gene Name |
glutamyl-prolyl-tRNA synthetase 1 |
| Synonyms |
3010002K18Rik, 2410081F06Rik, Qprs, Eprs |
| MMRRC Submission |
039721-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1688 (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 185117093 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 379
(F379L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045841
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046514]
[ENSMUST00000191900]
|
| AlphaFold |
Q8CGC7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046514
AA Change: F379L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000045841
Gene: ENSMUSG00000026615
AA Change: F379L
| 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 |
probably benign
Transcript: ENSMUST00000191900
|
| SMART Domains |
Protein: ENSMUSP00000141467
Gene: ENSMUSG00000026615
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_C
|
66 |
131 |
1.7e-4 |
PFAM |
|
Pfam:GST_C_3
|
70 |
131 |
8.9e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192284
|
| Meta Mutation Damage Score |
0.9121 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
100% (71/71) |
| 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 |
|---|
| 4930486L24Rik |
T |
C |
13: 61,002,695 (GRCm39) |
T20A |
probably benign |
Het |
| Acaca |
T |
G |
11: 84,129,722 (GRCm39) |
V359G |
probably damaging |
Het |
| Adgb |
G |
A |
10: 10,226,061 (GRCm39) |
R1359* |
probably null |
Het |
| Aggf1 |
T |
C |
13: 95,501,275 (GRCm39) |
E369G |
probably damaging |
Het |
| Alkbh8 |
T |
A |
9: 3,382,765 (GRCm39) |
D418E |
probably damaging |
Het |
| Alox8 |
T |
C |
11: 69,080,732 (GRCm39) |
D203G |
probably benign |
Het |
| Ank |
A |
G |
15: 27,557,320 (GRCm39) |
D168G |
probably damaging |
Het |
| Ap5m1 |
A |
G |
14: 49,318,291 (GRCm39) |
|
probably null |
Het |
| Arhgap45 |
A |
G |
10: 79,864,929 (GRCm39) |
Y964C |
probably damaging |
Het |
| Arhgef2 |
A |
G |
3: 88,547,607 (GRCm39) |
D571G |
probably benign |
Het |
| Bdh2 |
A |
T |
3: 135,007,399 (GRCm39) |
Y223F |
possibly damaging |
Het |
| Bin1 |
T |
C |
18: 32,552,988 (GRCm39) |
|
probably benign |
Het |
| Bin1 |
G |
A |
18: 32,558,025 (GRCm39) |
|
probably benign |
Het |
| Cacna1g |
T |
A |
11: 94,316,779 (GRCm39) |
M1514L |
possibly damaging |
Het |
| Cd109 |
T |
A |
9: 78,612,373 (GRCm39) |
F1253L |
probably benign |
Het |
| Cfap57 |
T |
A |
4: 118,426,843 (GRCm39) |
E1065V |
probably null |
Het |
| Chmp2b |
T |
C |
16: 65,347,922 (GRCm39) |
N14S |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,258,093 (GRCm39) |
V2113A |
probably benign |
Het |
| Crybg1 |
A |
T |
10: 43,849,794 (GRCm39) |
F1660L |
probably damaging |
Het |
| Cyp2c37 |
T |
G |
19: 39,982,887 (GRCm39) |
|
probably null |
Het |
| Daam1 |
A |
T |
12: 71,993,820 (GRCm39) |
I408F |
unknown |
Het |
| Dsc3 |
T |
A |
18: 20,099,284 (GRCm39) |
D744V |
probably damaging |
Het |
| Ewsr1 |
G |
T |
11: 5,022,870 (GRCm39) |
D417E |
unknown |
Het |
| Eya4 |
A |
T |
10: 22,999,759 (GRCm39) |
N424K |
probably damaging |
Het |
| Gm9312 |
A |
C |
12: 24,301,920 (GRCm39) |
|
noncoding transcript |
Het |
| Havcr2 |
T |
C |
11: 46,370,191 (GRCm39) |
I206T |
probably damaging |
Het |
| Igfbp2 |
T |
C |
1: 72,864,125 (GRCm39) |
|
probably null |
Het |
| Ikzf2 |
T |
C |
1: 69,581,439 (GRCm39) |
K196R |
possibly damaging |
Het |
| Il12rb1 |
G |
A |
8: 71,272,046 (GRCm39) |
G587R |
probably damaging |
Het |
| Immt |
A |
T |
6: 71,833,995 (GRCm39) |
H208L |
probably damaging |
Het |
| Kcnq2 |
C |
T |
2: 180,728,826 (GRCm39) |
V540I |
probably damaging |
Het |
| Klk1b8 |
T |
A |
7: 43,595,229 (GRCm39) |
|
probably benign |
Het |
| Mc2r |
T |
A |
18: 68,541,090 (GRCm39) |
I68F |
possibly damaging |
Het |
| Neil3 |
T |
C |
8: 54,054,069 (GRCm39) |
E320G |
probably damaging |
Het |
| Nell2 |
T |
C |
15: 95,329,494 (GRCm39) |
T276A |
probably damaging |
Het |
| Nphp3 |
T |
C |
9: 103,880,323 (GRCm39) |
L115P |
probably damaging |
Het |
| Nras |
T |
C |
3: 102,967,689 (GRCm39) |
L95P |
probably benign |
Het |
| Ogt |
G |
A |
X: 100,699,296 (GRCm39) |
V190I |
probably damaging |
Het |
| Or11h6 |
A |
T |
14: 50,880,705 (GRCm39) |
K322N |
probably benign |
Het |
| Or5t17 |
A |
G |
2: 86,832,730 (GRCm39) |
Y139C |
probably benign |
Het |
| P2ry6 |
T |
A |
7: 100,587,591 (GRCm39) |
H256L |
probably damaging |
Het |
| Pcbp4 |
T |
C |
9: 106,338,533 (GRCm39) |
S153P |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,838,507 (GRCm39) |
|
probably null |
Het |
| Per2 |
A |
G |
1: 91,351,551 (GRCm39) |
L985P |
probably damaging |
Het |
| Pgap6 |
C |
T |
17: 26,337,882 (GRCm39) |
A422V |
possibly damaging |
Het |
| Phip |
T |
C |
9: 82,753,710 (GRCm39) |
N1678S |
probably benign |
Het |
| Pkd1l3 |
A |
G |
8: 110,350,450 (GRCm39) |
S432G |
probably benign |
Het |
| Plin4 |
T |
A |
17: 56,416,363 (GRCm39) |
D47V |
possibly damaging |
Het |
| Ppp2cb |
A |
G |
8: 34,105,480 (GRCm39) |
I163M |
probably benign |
Het |
| Ptpdc1 |
T |
C |
13: 48,739,700 (GRCm39) |
E577G |
probably benign |
Het |
| Ptprd |
G |
T |
4: 75,900,921 (GRCm39) |
P1063T |
probably damaging |
Het |
| Ptpru |
T |
C |
4: 131,514,656 (GRCm39) |
D866G |
probably benign |
Het |
| Rdx |
T |
C |
9: 51,972,211 (GRCm39) |
|
probably benign |
Het |
| Rgsl1 |
C |
T |
1: 153,680,422 (GRCm39) |
R760H |
probably damaging |
Het |
| Rhno1 |
A |
G |
6: 128,334,897 (GRCm39) |
V142A |
probably benign |
Het |
| Sema5a |
C |
T |
15: 32,669,570 (GRCm39) |
T698I |
probably benign |
Het |
| Serpina3a |
A |
T |
12: 104,084,902 (GRCm39) |
D99V |
probably benign |
Het |
| Slc22a3 |
A |
T |
17: 12,652,694 (GRCm39) |
M350K |
probably damaging |
Het |
| Spata31d1b |
T |
A |
13: 59,863,274 (GRCm39) |
S141T |
possibly damaging |
Het |
| Tada2a |
T |
C |
11: 83,975,585 (GRCm39) |
|
probably null |
Het |
| Tspan10 |
A |
G |
11: 120,333,608 (GRCm39) |
M2V |
probably damaging |
Het |
| Ttll11 |
T |
C |
2: 35,685,391 (GRCm39) |
T566A |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,438,543 (GRCm39) |
Q1872R |
possibly damaging |
Het |
| Zfp605 |
T |
A |
5: 110,276,907 (GRCm39) |
I675N |
possibly damaging |
Het |
| Zkscan8 |
A |
T |
13: 21,704,324 (GRCm39) |
N538K |
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 |
|
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 |
|
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'- CCAGGAGTTTGTAGTGATCTTTCTGCTT -3'
(R):5'- CCATCTACCAGTCCTTCATTGACAAACC -3'
Sequencing Primer
(F):5'- TGTAGTGATCTTTCTGCTTCTATCC -3'
(R):5'- ACGTGAGCTTTCTTTTGGACAG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation