Incidental Mutation 'R8493:Eprs1'
| ID |
658094 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eprs1
|
| Ensembl Gene |
ENSMUSG00000026615 |
| Gene Name |
glutamyl-prolyl-tRNA synthetase 1 |
| Synonyms |
3010002K18Rik, 2410081F06Rik, Qprs, Eprs |
| MMRRC Submission |
067935-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8493 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
185095241-185160557 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 185139371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 919
(K919*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045841
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046514]
|
| AlphaFold |
Q8CGC7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000046514
AA Change: K919*
|
| SMART Domains |
Protein: ENSMUSP00000045841
Gene: ENSMUSG00000026615
AA Change: K919*
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
T |
16: 4,653,453 (GRCm39) |
M1L |
unknown |
Het |
| Abca13 |
T |
A |
11: 9,460,668 (GRCm39) |
I4226N |
probably damaging |
Het |
| Ankrd10 |
C |
A |
8: 11,678,518 (GRCm39) |
E125* |
probably null |
Het |
| Apob |
A |
T |
12: 8,059,009 (GRCm39) |
D2497V |
possibly damaging |
Het |
| Arap1 |
G |
A |
7: 101,035,725 (GRCm39) |
W87* |
probably null |
Het |
| Arhgef37 |
C |
T |
18: 61,640,277 (GRCm39) |
V261I |
probably benign |
Het |
| Arl4a |
A |
C |
12: 40,086,472 (GRCm39) |
C92G |
probably benign |
Het |
| Arrdc2 |
C |
T |
8: 71,289,501 (GRCm39) |
|
probably null |
Het |
| Atg16l1 |
A |
C |
1: 87,706,704 (GRCm39) |
T355P |
probably damaging |
Het |
| Card14 |
T |
G |
11: 119,224,435 (GRCm39) |
|
probably null |
Het |
| Cd109 |
G |
A |
9: 78,564,801 (GRCm39) |
V249I |
probably benign |
Het |
| Cdhr4 |
A |
G |
9: 107,873,453 (GRCm39) |
D395G |
probably damaging |
Het |
| Celsr1 |
C |
A |
15: 85,822,207 (GRCm39) |
M1703I |
possibly damaging |
Het |
| Cfap157 |
A |
G |
2: 32,669,752 (GRCm39) |
I277T |
probably benign |
Het |
| Chst4 |
A |
G |
8: 110,757,095 (GRCm39) |
V173A |
probably damaging |
Het |
| Clca4b |
T |
C |
3: 144,617,911 (GRCm39) |
N731D |
probably benign |
Het |
| Col11a2 |
A |
G |
17: 34,278,936 (GRCm39) |
E1122G |
possibly damaging |
Het |
| Csf1r |
C |
G |
18: 61,247,954 (GRCm39) |
P341A |
probably damaging |
Het |
| Dclk3 |
A |
G |
9: 111,297,215 (GRCm39) |
E253G |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,343,804 (GRCm39) |
D2829V |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,512,067 (GRCm39) |
N2998S |
probably damaging |
Het |
| Ehbp1 |
C |
T |
11: 22,235,842 (GRCm39) |
|
probably benign |
Het |
| Esp16 |
A |
T |
17: 39,850,821 (GRCm39) |
K67* |
probably null |
Het |
| Fam169a |
G |
T |
13: 97,259,367 (GRCm39) |
E474D |
probably benign |
Het |
| Fam83h |
C |
T |
15: 75,874,502 (GRCm39) |
R945H |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,869,822 (GRCm38) |
V195E |
probably damaging |
Het |
| Gm3159 |
T |
C |
14: 4,398,567 (GRCm38) |
I86T |
probably damaging |
Het |
| Gm4744 |
G |
A |
6: 40,926,281 (GRCm39) |
S103F |
|
Het |
| Gvin2 |
A |
G |
7: 105,548,088 (GRCm39) |
S1655P |
probably benign |
Het |
| Ift122 |
T |
A |
6: 115,887,292 (GRCm39) |
I713N |
probably benign |
Het |
| Ilkap |
A |
G |
1: 91,306,266 (GRCm39) |
I105T |
probably damaging |
Het |
| Isl1 |
G |
T |
13: 116,441,835 (GRCm39) |
H133N |
possibly damaging |
Het |
| Jade1 |
T |
A |
3: 41,559,113 (GRCm39) |
L398Q |
possibly damaging |
Het |
| Kcnh7 |
C |
T |
2: 62,681,003 (GRCm39) |
V195M |
probably benign |
Het |
| Kif3a |
A |
T |
11: 53,489,627 (GRCm39) |
K669* |
probably null |
Het |
| L3mbtl4 |
G |
A |
17: 68,937,239 (GRCm39) |
R420H |
probably damaging |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,321 (GRCm39) |
I197N |
probably damaging |
Het |
| Mthfd1 |
A |
G |
12: 76,340,929 (GRCm39) |
T263A |
probably damaging |
Het |
| Mtmr7 |
G |
A |
8: 41,059,927 (GRCm39) |
A62V |
possibly damaging |
Het |
| Naxe |
A |
G |
3: 87,965,757 (GRCm39) |
|
probably benign |
Het |
| Ndufs2 |
T |
C |
1: 171,068,677 (GRCm39) |
T51A |
probably benign |
Het |
| Nlrc5 |
T |
A |
8: 95,249,848 (GRCm39) |
L1824Q |
probably damaging |
Het |
| Notch1 |
A |
G |
2: 26,362,251 (GRCm39) |
V27A |
unknown |
Het |
| Nucks1 |
A |
T |
1: 131,857,473 (GRCm39) |
M169L |
probably benign |
Het |
| Or10ag53 |
T |
A |
2: 87,083,215 (GRCm39) |
D311E |
probably benign |
Het |
| Or13p4 |
C |
T |
4: 118,547,229 (GRCm39) |
S140N |
probably benign |
Het |
| Or4a80 |
T |
A |
2: 89,582,599 (GRCm39) |
Y191F |
probably benign |
Het |
| Or4k45 |
T |
A |
2: 111,395,324 (GRCm39) |
H155L |
probably damaging |
Het |
| Or51aa2 |
A |
T |
7: 103,187,479 (GRCm39) |
S321T |
probably benign |
Het |
| Or52n20 |
G |
T |
7: 104,320,022 (GRCm39) |
V38L |
probably benign |
Het |
| Or5w10 |
T |
A |
2: 87,375,114 (GRCm39) |
Y258F |
probably damaging |
Het |
| Pcnt |
C |
T |
10: 76,239,457 (GRCm39) |
|
probably null |
Het |
| Pdcd7 |
T |
C |
9: 65,254,039 (GRCm39) |
S206P |
probably benign |
Het |
| Pdia4 |
A |
T |
6: 47,773,575 (GRCm39) |
Y591* |
probably null |
Het |
| Pgap6 |
G |
T |
17: 26,340,931 (GRCm39) |
R678L |
probably damaging |
Het |
| Plxna4 |
C |
T |
6: 32,192,647 (GRCm39) |
M771I |
probably benign |
Het |
| Pramel47 |
C |
T |
5: 95,488,092 (GRCm39) |
H9Y |
possibly damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,712,031 (GRCm39) |
Y1643C |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,717,671 (GRCm39) |
I1906V |
probably benign |
Het |
| Rab33b |
T |
A |
3: 51,391,795 (GRCm39) |
S15T |
probably benign |
Het |
| Rasip1 |
A |
T |
7: 45,284,467 (GRCm39) |
M644L |
possibly damaging |
Het |
| Rnf4 |
G |
A |
5: 34,506,035 (GRCm39) |
C55Y |
probably damaging |
Het |
| Sel1l |
A |
T |
12: 91,780,735 (GRCm39) |
Y585* |
probably null |
Het |
| Slc40a1 |
A |
T |
1: 45,950,576 (GRCm39) |
F292Y |
probably damaging |
Het |
| Smarca4 |
G |
A |
9: 21,570,144 (GRCm39) |
D716N |
probably damaging |
Het |
| Sp7 |
T |
A |
15: 102,266,837 (GRCm39) |
H323L |
possibly damaging |
Het |
| Speer1m |
T |
C |
5: 11,971,489 (GRCm39) |
L147P |
probably damaging |
Het |
| Sprtn |
A |
G |
8: 125,629,933 (GRCm39) |
S409G |
probably benign |
Het |
| St3gal2 |
T |
G |
8: 111,688,853 (GRCm39) |
L131R |
probably damaging |
Het |
| Tctn1 |
A |
G |
5: 122,399,552 (GRCm39) |
C91R |
probably damaging |
Het |
| Tgm1 |
A |
T |
14: 55,937,754 (GRCm39) |
V785E |
probably damaging |
Het |
| Topaz1 |
G |
T |
9: 122,579,573 (GRCm39) |
V828L |
probably benign |
Het |
| Triobp |
C |
T |
15: 78,878,326 (GRCm39) |
H1750Y |
possibly damaging |
Het |
| Ttc27 |
G |
A |
17: 75,050,047 (GRCm39) |
|
probably null |
Het |
| Usp2 |
G |
A |
9: 43,987,350 (GRCm39) |
G216D |
possibly damaging |
Het |
| Vmn2r99 |
A |
G |
17: 19,614,020 (GRCm39) |
D580G |
probably benign |
Het |
| Wbp1l |
G |
A |
19: 46,640,988 (GRCm39) |
R106H |
possibly damaging |
Het |
| Zmym2 |
G |
T |
14: 57,151,606 (GRCm39) |
C497F |
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 |
|
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 |
|
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'- GAATGTTTGCTGTCCCTGAAAG -3'
(R):5'- TGCCACACCCATATTTACCAGG -3'
Sequencing Primer
(F):5'- CTGTCCCTGAAAGCTGAGTATAAAG -3'
(R):5'- CACCCATATTTACCAGGTCAATG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation