Incidental Mutation 'R7988:Eprs1'
| ID |
651570 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eprs1
|
| Ensembl Gene |
ENSMUSG00000026615 |
| Gene Name |
glutamyl-prolyl-tRNA synthetase 1 |
| Synonyms |
3010002K18Rik, 2410081F06Rik, Qprs, Eprs |
| MMRRC Submission |
046029-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7988 (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 G
at 185150545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1349
(Y1349C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045841
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046514]
|
| AlphaFold |
Q8CGC7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046514
AA Change: Y1349C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045841
Gene: ENSMUSG00000026615
AA Change: Y1349C
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (59/59) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610030E20Rik |
C |
T |
6: 72,324,635 (GRCm39) |
T56M |
probably damaging |
Het |
| Adamtsl5 |
C |
T |
10: 80,181,372 (GRCm39) |
S36N |
probably benign |
Het |
| Adgrf5 |
A |
T |
17: 43,750,704 (GRCm39) |
|
probably benign |
Het |
| Ago1 |
A |
G |
4: 126,354,210 (GRCm39) |
F200S |
probably damaging |
Het |
| Akr1cl |
T |
C |
1: 65,063,865 (GRCm39) |
D108G |
possibly damaging |
Het |
| Aopep |
A |
G |
13: 63,208,954 (GRCm39) |
D357G |
probably benign |
Het |
| Arhgef3 |
A |
T |
14: 27,123,743 (GRCm39) |
D468V |
probably benign |
Het |
| Aspn |
T |
C |
13: 49,705,353 (GRCm39) |
C72R |
possibly damaging |
Het |
| Baz2b |
T |
C |
2: 59,792,485 (GRCm39) |
T548A |
possibly damaging |
Het |
| Birc6 |
G |
A |
17: 74,906,368 (GRCm39) |
|
probably null |
Het |
| Btnl2 |
A |
T |
17: 34,577,249 (GRCm39) |
T135S |
possibly damaging |
Het |
| Ccnl1 |
T |
A |
3: 65,865,282 (GRCm39) |
I90F |
possibly damaging |
Het |
| Ccnt1 |
T |
C |
15: 98,463,024 (GRCm39) |
|
probably null |
Het |
| Cemip |
C |
A |
7: 83,652,616 (GRCm39) |
|
probably benign |
Het |
| Cfap45 |
A |
G |
1: 172,357,501 (GRCm39) |
D85G |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,737,941 (GRCm39) |
D2319V |
unknown |
Het |
| Cma1 |
T |
C |
14: 56,181,989 (GRCm39) |
M14V |
possibly damaging |
Het |
| Cmtm1 |
T |
C |
8: 105,036,774 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
A |
G |
4: 63,249,559 (GRCm39) |
H1738R |
unknown |
Het |
| Colq |
T |
A |
14: 31,275,794 (GRCm39) |
D41V |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,337,166 (GRCm39) |
T2437A |
probably benign |
Het |
| Dnah14 |
A |
G |
1: 181,611,139 (GRCm39) |
D3755G |
probably damaging |
Het |
| Eps8 |
C |
T |
6: 137,505,569 (GRCm39) |
R53Q |
possibly damaging |
Het |
| Fbf1 |
T |
C |
11: 116,043,594 (GRCm39) |
D405G |
probably benign |
Het |
| Fen1 |
C |
T |
19: 10,177,674 (GRCm39) |
E257K |
possibly damaging |
Het |
| Gstm7 |
A |
T |
3: 107,834,271 (GRCm39) |
M198K |
possibly damaging |
Het |
| Hook3 |
A |
T |
8: 26,563,675 (GRCm39) |
S190T |
probably benign |
Het |
| Htra4 |
A |
C |
8: 25,520,526 (GRCm39) |
|
probably null |
Het |
| Ighv1-15 |
T |
C |
12: 114,621,116 (GRCm39) |
I70V |
probably benign |
Het |
| Ikzf4 |
T |
A |
10: 128,470,324 (GRCm39) |
N452Y |
probably damaging |
Het |
| Insyn2a |
T |
G |
7: 134,519,427 (GRCm39) |
K368Q |
probably damaging |
Het |
| Iqcf5 |
T |
A |
9: 106,393,020 (GRCm39) |
N92K |
possibly damaging |
Het |
| Itk |
A |
G |
11: 46,246,661 (GRCm39) |
Y186H |
probably damaging |
Het |
| Klhdc10 |
T |
C |
6: 30,446,690 (GRCm39) |
S282P |
probably benign |
Het |
| Klhl18 |
T |
A |
9: 110,305,577 (GRCm39) |
E29V |
possibly damaging |
Het |
| Ky |
T |
C |
9: 102,402,614 (GRCm39) |
S140P |
probably damaging |
Het |
| Lmntd2 |
T |
C |
7: 140,793,550 (GRCm39) |
E112G |
unknown |
Het |
| Lrrc36 |
C |
A |
8: 106,178,718 (GRCm39) |
D304E |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,400,273 (GRCm39) |
F674Y |
probably damaging |
Het |
| Notch1 |
C |
T |
2: 26,361,013 (GRCm39) |
D1111N |
probably benign |
Het |
| Osbpl8 |
T |
G |
10: 111,107,941 (GRCm39) |
N312K |
possibly damaging |
Het |
| Otogl |
C |
T |
10: 107,731,637 (GRCm39) |
C168Y |
probably damaging |
Het |
| Phldb2 |
T |
G |
16: 45,645,934 (GRCm39) |
T171P |
probably benign |
Het |
| Ppef2 |
A |
T |
5: 92,386,841 (GRCm39) |
F365L |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Ryr1 |
G |
A |
7: 28,795,596 (GRCm39) |
T1105I |
probably benign |
Het |
| Sclt1 |
T |
A |
3: 41,617,889 (GRCm39) |
*29L |
probably null |
Het |
| Scn11a |
T |
C |
9: 119,594,503 (GRCm39) |
K1297E |
probably damaging |
Het |
| Serpinb9c |
T |
A |
13: 33,334,262 (GRCm39) |
Y288F |
probably benign |
Het |
| Setd1a |
T |
A |
7: 127,385,366 (GRCm39) |
M691K |
probably benign |
Het |
| Sftpc |
T |
C |
14: 70,760,059 (GRCm39) |
E66G |
probably damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,131,934 (GRCm39) |
I359V |
probably benign |
Het |
| Thnsl2 |
T |
C |
6: 71,118,303 (GRCm39) |
T42A |
probably benign |
Het |
| Tram1 |
T |
C |
1: 13,640,199 (GRCm39) |
D285G |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,675,374 (GRCm39) |
P11137L |
unknown |
Het |
| Ttn |
C |
A |
2: 76,727,103 (GRCm39) |
V5821F |
unknown |
Het |
| Ttn |
A |
T |
2: 76,566,584 (GRCm39) |
I28103K |
probably damaging |
Het |
| Usp38 |
T |
A |
8: 81,740,945 (GRCm39) |
M41L |
probably benign |
Het |
| Zcwpw1 |
T |
G |
5: 137,815,753 (GRCm39) |
Y419D |
possibly damaging |
Het |
| Zfp407 |
G |
A |
18: 84,577,525 (GRCm39) |
A1196V |
possibly damaging |
Het |
| Zfp446 |
T |
A |
7: 12,712,970 (GRCm39) |
S103T |
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 |
|
|
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 |
|
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'- CATTGGCAGATTTTAACTTCTGTATGG -3'
(R):5'- TTCTCCTTGAACCACCACAG -3'
Sequencing Primer
(F):5'- ACTTCTGTATGGTTCATTATTGTAGG -3'
(R):5'- TGAACCACCACAGAGAGTAGTTTAAC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation