Incidental Mutation 'R4995:Eprs1'
| ID |
385144 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eprs1
|
| Ensembl Gene |
ENSMUSG00000026615 |
| Gene Name |
glutamyl-prolyl-tRNA synthetase 1 |
| Synonyms |
3010002K18Rik, 2410081F06Rik, Qprs, Eprs |
| MMRRC Submission |
042589-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4995 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
185095241-185160557 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 185142336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045841
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046514]
|
| AlphaFold |
Q8CGC7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046514
|
| SMART Domains |
Protein: ENSMUSP00000045841
Gene: ENSMUSG00000026615
| 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: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
99% (86/87) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
G |
A |
2: 19,498,995 (GRCm39) |
Q333* |
probably null |
Het |
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Acvrl1 |
G |
A |
15: 101,033,741 (GRCm39) |
R141H |
probably benign |
Het |
| Adprm |
A |
G |
11: 66,932,436 (GRCm39) |
F158L |
possibly damaging |
Het |
| Aldoart2 |
C |
T |
12: 55,613,038 (GRCm39) |
T321M |
probably benign |
Het |
| Ap3m2 |
A |
G |
8: 23,293,792 (GRCm39) |
V86A |
probably benign |
Het |
| Arhgef19 |
T |
A |
4: 140,974,826 (GRCm39) |
|
probably null |
Het |
| Bcl2l12 |
T |
G |
7: 44,643,615 (GRCm39) |
|
probably null |
Het |
| Bptf |
T |
C |
11: 106,945,391 (GRCm39) |
Q2501R |
probably damaging |
Het |
| C230029F24Rik |
A |
T |
1: 49,377,295 (GRCm39) |
|
noncoding transcript |
Het |
| C7 |
C |
T |
15: 5,079,074 (GRCm39) |
G78D |
probably damaging |
Het |
| Caly |
T |
C |
7: 139,650,538 (GRCm39) |
T135A |
probably benign |
Het |
| Cbl |
A |
G |
9: 44,065,108 (GRCm39) |
M740T |
possibly damaging |
Het |
| Cbx4 |
A |
G |
11: 118,972,037 (GRCm39) |
V446A |
probably benign |
Het |
| Celsr1 |
C |
A |
15: 85,822,112 (GRCm39) |
R1735L |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,830,236 (GRCm39) |
D135G |
probably damaging |
Het |
| Cgn |
T |
C |
3: 94,687,246 (GRCm39) |
T19A |
probably damaging |
Het |
| Chic2 |
A |
T |
5: 75,204,865 (GRCm39) |
V32D |
probably damaging |
Het |
| Cntln |
A |
G |
4: 84,968,120 (GRCm39) |
K780E |
probably benign |
Het |
| Col8a2 |
A |
T |
4: 126,204,581 (GRCm39) |
D197V |
probably damaging |
Het |
| Crot |
A |
T |
5: 9,024,000 (GRCm39) |
V372E |
probably damaging |
Het |
| Cyb561d2 |
C |
T |
9: 107,418,747 (GRCm39) |
V26M |
probably damaging |
Het |
| Ddx5 |
G |
A |
11: 106,676,062 (GRCm39) |
T237I |
probably damaging |
Het |
| Dmxl2 |
G |
T |
9: 54,408,725 (GRCm39) |
|
probably benign |
Het |
| Dock8 |
T |
A |
19: 25,135,747 (GRCm39) |
S1188R |
probably benign |
Het |
| Ehbp1 |
T |
A |
11: 22,051,073 (GRCm39) |
H493L |
probably damaging |
Het |
| Eif5b |
T |
A |
1: 38,090,792 (GRCm39) |
*1217K |
probably null |
Het |
| Etfdh |
T |
C |
3: 79,513,095 (GRCm39) |
D376G |
probably benign |
Het |
| Fam186a |
T |
C |
15: 99,842,980 (GRCm39) |
Q1088R |
probably benign |
Het |
| Fbxw16 |
G |
T |
9: 109,270,318 (GRCm39) |
T141N |
probably damaging |
Het |
| Fgf11 |
G |
A |
11: 69,689,585 (GRCm39) |
H138Y |
probably damaging |
Het |
| Htra3 |
T |
C |
5: 35,828,418 (GRCm39) |
E154G |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,296,274 (GRCm39) |
V3601D |
probably damaging |
Het |
| Jup |
G |
T |
11: 100,270,367 (GRCm39) |
S380* |
probably null |
Het |
| Klrg1 |
T |
A |
6: 122,255,234 (GRCm39) |
D66V |
probably benign |
Het |
| Llgl1 |
C |
T |
11: 60,600,550 (GRCm39) |
A633V |
probably benign |
Het |
| Lmln |
T |
A |
16: 32,894,467 (GRCm39) |
Y203* |
probably null |
Het |
| Lrrc58 |
T |
G |
16: 37,697,418 (GRCm39) |
C165G |
probably benign |
Het |
| Lss |
T |
C |
10: 76,383,371 (GRCm39) |
V557A |
probably benign |
Het |
| Mast4 |
T |
C |
13: 103,042,262 (GRCm39) |
|
probably benign |
Het |
| Med13l |
C |
A |
5: 118,869,014 (GRCm39) |
P754Q |
possibly damaging |
Het |
| Mga |
C |
T |
2: 119,763,063 (GRCm39) |
R1240* |
probably null |
Het |
| Mgat5b |
T |
A |
11: 116,865,025 (GRCm39) |
|
probably null |
Het |
| Mtor |
A |
G |
4: 148,610,209 (GRCm39) |
D1572G |
probably damaging |
Het |
| Muc4 |
T |
A |
16: 32,754,214 (GRCm38) |
S1363T |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,575,332 (GRCm39) |
S1306T |
probably benign |
Het |
| Myo18b |
A |
G |
5: 112,908,258 (GRCm39) |
V2005A |
probably damaging |
Het |
| Myo1e |
G |
A |
9: 70,260,554 (GRCm39) |
D571N |
probably benign |
Het |
| Mypn |
T |
C |
10: 62,955,747 (GRCm39) |
|
probably null |
Het |
| Ndufb10 |
T |
C |
17: 24,941,731 (GRCm39) |
|
probably null |
Het |
| Nelfb |
G |
T |
2: 25,096,208 (GRCm39) |
D300E |
probably benign |
Het |
| Nicol1 |
G |
A |
5: 34,142,270 (GRCm39) |
R79H |
probably damaging |
Het |
| Odad2 |
G |
A |
18: 7,223,663 (GRCm39) |
T460M |
probably damaging |
Het |
| Or2y1d |
T |
A |
11: 49,321,482 (GRCm39) |
Y60N |
probably damaging |
Het |
| Or4e5 |
A |
T |
14: 52,727,988 (GRCm39) |
C61* |
probably null |
Het |
| Or52n2c |
T |
A |
7: 104,574,942 (GRCm39) |
T10S |
probably benign |
Het |
| Or52z15 |
T |
A |
7: 103,332,574 (GRCm39) |
D206E |
probably damaging |
Het |
| Pcdha11 |
C |
T |
18: 37,144,080 (GRCm39) |
T57M |
probably benign |
Het |
| Pkp1 |
A |
T |
1: 135,808,593 (GRCm39) |
I458N |
possibly damaging |
Het |
| Prr12 |
T |
A |
7: 44,700,653 (GRCm39) |
|
probably benign |
Het |
| Prrc2c |
A |
T |
1: 162,532,879 (GRCm39) |
|
probably benign |
Het |
| Psd4 |
T |
C |
2: 24,287,259 (GRCm39) |
F397S |
probably benign |
Het |
| Pygm |
T |
C |
19: 6,448,169 (GRCm39) |
I737T |
probably damaging |
Het |
| Rfx1 |
T |
A |
8: 84,806,743 (GRCm39) |
|
probably null |
Het |
| Rsl1 |
A |
G |
13: 67,330,313 (GRCm39) |
T254A |
possibly damaging |
Het |
| Sh3rf3 |
A |
G |
10: 58,922,646 (GRCm39) |
Q574R |
probably benign |
Het |
| Spire1 |
T |
C |
18: 67,685,849 (GRCm39) |
|
probably null |
Het |
| St6galnac4 |
G |
A |
2: 32,484,075 (GRCm39) |
G91D |
probably damaging |
Het |
| Sytl2 |
T |
C |
7: 90,031,465 (GRCm39) |
|
probably benign |
Het |
| Tbpl2 |
T |
A |
2: 23,983,872 (GRCm39) |
K188N |
possibly damaging |
Het |
| Tenm3 |
A |
T |
8: 48,682,172 (GRCm39) |
M2486K |
possibly damaging |
Het |
| Tgoln1 |
A |
C |
6: 72,593,123 (GRCm39) |
V119G |
possibly damaging |
Het |
| Tpgs1 |
A |
T |
10: 79,505,325 (GRCm39) |
N28Y |
probably benign |
Het |
| U2surp |
A |
C |
9: 95,344,847 (GRCm39) |
|
probably benign |
Het |
| Vmn2r103 |
A |
G |
17: 19,993,773 (GRCm39) |
H50R |
probably benign |
Het |
| Vmn2r19 |
A |
G |
6: 123,306,869 (GRCm39) |
N459S |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,693 (GRCm39) |
S624G |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,826,603 (GRCm39) |
T1415A |
probably benign |
Het |
| Vwa5b1 |
G |
A |
4: 138,336,154 (GRCm39) |
P147S |
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 |
|
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'- AGTCACCGTCAGCAGCTTTC -3'
(R):5'- CACATGCACAGACTCAGGAG -3'
Sequencing Primer
(F):5'- ACCGTCAGCAGCTTTCTCATG -3'
(R):5'- GGGATCACAGAGCTTATGACTACC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation