Incidental Mutation 'R5154:Eprs1'
| ID |
396551 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eprs1
|
| Ensembl Gene |
ENSMUSG00000026615 |
| Gene Name |
glutamyl-prolyl-tRNA synthetase 1 |
| Synonyms |
3010002K18Rik, 2410081F06Rik, Qprs, Eprs |
| MMRRC Submission |
042736-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5154 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
185095241-185160557 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 185145662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 1157
(H1157R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045841
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046514]
|
| AlphaFold |
Q8CGC7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046514
AA Change: H1157R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045841
Gene: ENSMUSG00000026615
AA Change: H1157R
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
C |
4: 39,450,938 (GRCm39) |
H48P |
probably damaging |
Het |
| Angptl7 |
C |
T |
4: 148,581,882 (GRCm39) |
R168H |
probably damaging |
Het |
| Ankrd11 |
A |
C |
8: 123,619,878 (GRCm39) |
F1325V |
probably damaging |
Het |
| Ankrd13c |
A |
G |
3: 157,694,297 (GRCm39) |
D266G |
possibly damaging |
Het |
| Apold1 |
A |
T |
6: 134,960,636 (GRCm39) |
H30L |
possibly damaging |
Het |
| Arel1 |
A |
G |
12: 84,978,547 (GRCm39) |
F362L |
probably benign |
Het |
| Arhgef4 |
T |
A |
1: 34,771,455 (GRCm39) |
M1254K |
probably benign |
Het |
| Arid2 |
T |
A |
15: 96,299,866 (GRCm39) |
V1793E |
probably damaging |
Het |
| Bcl7a |
T |
C |
5: 123,507,422 (GRCm39) |
S156P |
probably damaging |
Het |
| Cbr3 |
A |
G |
16: 93,482,027 (GRCm39) |
I128V |
probably benign |
Het |
| Cct6b |
G |
A |
11: 82,630,521 (GRCm39) |
P299L |
probably damaging |
Het |
| Cd180 |
A |
T |
13: 102,842,282 (GRCm39) |
N443Y |
probably damaging |
Het |
| Cd80 |
A |
G |
16: 38,294,342 (GRCm39) |
K75R |
probably benign |
Het |
| Cdk1 |
A |
T |
10: 69,176,298 (GRCm39) |
|
probably benign |
Het |
| Cep192 |
T |
A |
18: 67,983,755 (GRCm39) |
F1565I |
probably damaging |
Het |
| Chtf18 |
T |
C |
17: 25,942,694 (GRCm39) |
T412A |
probably damaging |
Het |
| Cit |
T |
C |
5: 116,126,464 (GRCm39) |
L1590P |
probably damaging |
Het |
| Clcn2 |
T |
A |
16: 20,522,053 (GRCm39) |
R845S |
probably benign |
Het |
| Cndp2 |
C |
T |
18: 84,686,727 (GRCm39) |
V432I |
probably benign |
Het |
| Cnnm2 |
A |
T |
19: 46,751,571 (GRCm39) |
R454W |
probably benign |
Het |
| Cpne8 |
T |
G |
15: 90,384,121 (GRCm39) |
I480L |
probably benign |
Het |
| Cr2 |
A |
G |
1: 194,841,754 (GRCm39) |
W400R |
probably damaging |
Het |
| Cul5 |
A |
G |
9: 53,537,167 (GRCm39) |
L528P |
probably damaging |
Het |
| Dlgap5 |
C |
T |
14: 47,651,177 (GRCm39) |
V119M |
probably damaging |
Het |
| Dnah12 |
T |
C |
14: 26,571,320 (GRCm39) |
S190P |
probably benign |
Het |
| Dnah3 |
T |
A |
7: 119,551,642 (GRCm39) |
K2881N |
probably damaging |
Het |
| Dnmt3a |
A |
T |
12: 3,946,008 (GRCm39) |
I288F |
probably damaging |
Het |
| Dse |
T |
A |
10: 34,029,657 (GRCm39) |
T478S |
possibly damaging |
Het |
| Edn1 |
C |
T |
13: 42,458,499 (GRCm39) |
T104I |
probably benign |
Het |
| Eef2 |
GCCC |
GCCCC |
10: 81,014,601 (GRCm39) |
|
probably null |
Het |
| Fam168b |
G |
A |
1: 34,857,180 (GRCm39) |
T179I |
possibly damaging |
Het |
| Fzd5 |
A |
G |
1: 64,775,131 (GRCm39) |
V210A |
probably benign |
Het |
| Gm9742 |
T |
C |
13: 8,085,081 (GRCm39) |
|
noncoding transcript |
Het |
| Gpc1 |
G |
A |
1: 92,784,751 (GRCm39) |
G308D |
probably damaging |
Het |
| Gpr141 |
C |
T |
13: 19,936,412 (GRCm39) |
R121K |
probably benign |
Het |
| Greb1l |
A |
G |
18: 10,458,312 (GRCm39) |
T30A |
probably benign |
Het |
| Grk3 |
A |
T |
5: 113,089,583 (GRCm39) |
I281N |
probably damaging |
Het |
| Hnrnpdl |
A |
T |
5: 100,184,371 (GRCm39) |
Y289* |
probably null |
Het |
| Hsf2 |
T |
G |
10: 57,380,808 (GRCm39) |
V214G |
probably benign |
Het |
| Igf2bp1 |
G |
A |
11: 95,854,373 (GRCm39) |
Q563* |
probably null |
Het |
| Il31ra |
T |
A |
13: 112,660,531 (GRCm39) |
D605V |
possibly damaging |
Het |
| Insm2 |
G |
A |
12: 55,646,982 (GRCm39) |
C242Y |
probably damaging |
Het |
| Ints3 |
C |
T |
3: 90,322,868 (GRCm39) |
V121I |
probably benign |
Het |
| Kcnt2 |
A |
T |
1: 140,278,994 (GRCm39) |
L48F |
possibly damaging |
Het |
| Kit |
G |
A |
5: 75,801,200 (GRCm39) |
V529M |
probably damaging |
Het |
| Mark2 |
G |
A |
19: 7,260,439 (GRCm39) |
P13S |
probably damaging |
Het |
| Mthfsd |
A |
G |
8: 121,825,479 (GRCm39) |
V364A |
probably damaging |
Het |
| Mtmr11 |
C |
G |
3: 96,071,636 (GRCm39) |
S185R |
probably benign |
Het |
| Myot |
A |
G |
18: 44,487,281 (GRCm39) |
I373V |
probably benign |
Het |
| N4bp3 |
A |
T |
11: 51,536,139 (GRCm39) |
V231D |
probably benign |
Het |
| Or5t17 |
T |
C |
2: 86,832,382 (GRCm39) |
V23A |
probably benign |
Het |
| Or8k39 |
A |
T |
2: 86,563,121 (GRCm39) |
Y278* |
probably null |
Het |
| Pdcd6ip |
A |
G |
9: 113,520,610 (GRCm39) |
F125L |
probably damaging |
Het |
| Prpf39 |
A |
T |
12: 65,095,051 (GRCm39) |
Q124L |
probably benign |
Het |
| Reln |
A |
T |
5: 22,193,763 (GRCm39) |
N1398K |
probably damaging |
Het |
| Rhod |
A |
T |
19: 4,482,122 (GRCm39) |
D97E |
probably damaging |
Het |
| Rxra |
T |
C |
2: 27,647,880 (GRCm39) |
|
probably null |
Het |
| Slc1a3 |
T |
C |
15: 8,672,433 (GRCm39) |
I349V |
probably benign |
Het |
| Slc37a2 |
A |
T |
9: 37,142,939 (GRCm39) |
*502R |
probably null |
Het |
| Slc9b1 |
T |
C |
3: 135,078,940 (GRCm39) |
I199T |
probably damaging |
Het |
| Spart |
C |
T |
3: 55,024,750 (GRCm39) |
P115L |
probably damaging |
Het |
| Tnpo1 |
A |
T |
13: 99,006,813 (GRCm39) |
C205S |
possibly damaging |
Het |
| Tubb1 |
T |
A |
2: 174,298,657 (GRCm39) |
I113N |
probably benign |
Het |
| Tyrp1 |
G |
A |
4: 80,768,954 (GRCm39) |
V483I |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,215,757 (GRCm39) |
S100G |
probably benign |
Het |
| Zfhx3 |
A |
T |
8: 109,527,207 (GRCm39) |
I1035F |
probably damaging |
Het |
| Zfp618 |
G |
T |
4: 63,051,446 (GRCm39) |
K742N |
probably damaging |
Het |
| Zfp873 |
T |
C |
10: 81,896,025 (GRCm39) |
V252A |
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 |
|
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 |
|
|
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'- CAACCAGTGGTGCAATGTG -3'
(R):5'- TCTTTTCAAACAGGTTTTACACAGC -3'
Sequencing Primer
(F):5'- GCACACACGCATACTTCATTTG -3'
(R):5'- CAGGTTTTACACAGCATAAGCC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation