Incidental Mutation 'R7732:Eprs1'
| ID |
595884 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eprs1
|
| Ensembl Gene |
ENSMUSG00000026615 |
| Gene Name |
glutamyl-prolyl-tRNA synthetase 1 |
| Synonyms |
3010002K18Rik, 2410081F06Rik, Qprs, Eprs |
| MMRRC Submission |
045788-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7732 (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 185105136 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 137
(H137R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045841
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046514]
[ENSMUST00000191900]
[ENSMUST00000195824]
|
| AlphaFold |
Q8CGC7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046514
AA Change: H137R
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000045841
Gene: ENSMUSG00000026615
AA Change: H137R
| 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 |
probably benign
Transcript: ENSMUST00000195824
|
| SMART Domains |
Protein: ENSMUSP00000141550
Gene: ENSMUSG00000026615
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_C
|
33 |
96 |
8.4e-5 |
PFAM |
|
Pfam:GST_C_3
|
35 |
96 |
3.9e-11 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (73/73) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
T |
15: 91,075,451 (GRCm39) |
S121T |
possibly damaging |
Het |
| Alpk1 |
T |
C |
3: 127,478,041 (GRCm39) |
M69V |
|
Het |
| Ap3m2 |
G |
T |
8: 23,287,105 (GRCm39) |
D192E |
probably benign |
Het |
| Arel1 |
A |
G |
12: 84,974,663 (GRCm39) |
V493A |
probably benign |
Het |
| Arhgap27 |
T |
C |
11: 103,230,869 (GRCm39) |
H140R |
probably benign |
Het |
| Bcat2 |
C |
T |
7: 45,234,617 (GRCm39) |
T166M |
possibly damaging |
Het |
| Brd4 |
C |
A |
17: 32,440,386 (GRCm39) |
A318S |
unknown |
Het |
| Cabp4 |
T |
A |
19: 4,185,994 (GRCm39) |
T270S |
probably benign |
Het |
| Cd22 |
G |
A |
7: 30,569,482 (GRCm39) |
R545C |
probably damaging |
Het |
| Cdc23 |
C |
A |
18: 34,769,755 (GRCm39) |
|
probably null |
Het |
| Chst4 |
G |
A |
8: 110,756,514 (GRCm39) |
Q450* |
probably null |
Het |
| Ctsc |
G |
A |
7: 87,946,367 (GRCm39) |
R132Q |
probably damaging |
Het |
| Cyp2b19 |
A |
G |
7: 26,470,769 (GRCm39) |
D470G |
possibly damaging |
Het |
| Dcc |
C |
T |
18: 71,579,506 (GRCm39) |
G689D |
probably benign |
Het |
| Disc1 |
G |
T |
8: 125,977,714 (GRCm39) |
G779* |
probably null |
Het |
| Dock1 |
T |
G |
7: 134,346,699 (GRCm39) |
D210E |
probably benign |
Het |
| Dynlt1a |
A |
G |
17: 6,365,220 (GRCm39) |
V14A |
probably benign |
Het |
| Dynlt2a3 |
A |
G |
17: 15,187,947 (GRCm39) |
V109A |
probably benign |
Het |
| Epha10 |
A |
G |
4: 124,809,092 (GRCm39) |
D779G |
|
Het |
| Eps15l1 |
A |
C |
8: 73,134,820 (GRCm39) |
L447R |
probably damaging |
Het |
| Esyt1 |
A |
G |
10: 128,357,694 (GRCm39) |
|
probably null |
Het |
| Fam221a |
A |
G |
6: 49,349,563 (GRCm39) |
K43E |
probably benign |
Het |
| Fanci |
A |
G |
7: 79,062,400 (GRCm39) |
S309G |
possibly damaging |
Het |
| Fbxo48 |
T |
A |
11: 16,903,601 (GRCm39) |
W76R |
probably damaging |
Het |
| Fgd4 |
A |
G |
16: 16,302,459 (GRCm39) |
V32A |
probably benign |
Het |
| Foxe1 |
A |
T |
4: 46,345,287 (GRCm39) |
D365V |
unknown |
Het |
| Gabrd |
C |
T |
4: 155,470,075 (GRCm39) |
R378H |
probably benign |
Het |
| Greb1 |
A |
G |
12: 16,723,864 (GRCm39) |
S1862P |
probably damaging |
Het |
| H2al2b |
T |
C |
Y: 2,720,436 (GRCm39) |
H80R |
possibly damaging |
Het |
| Hectd4 |
T |
C |
5: 121,474,692 (GRCm39) |
V2771A |
probably benign |
Het |
| Hoxa11 |
A |
T |
6: 52,220,415 (GRCm39) |
F289L |
probably damaging |
Het |
| Hsp90aa1 |
A |
G |
12: 110,659,852 (GRCm39) |
V412A |
probably damaging |
Het |
| Igsf11 |
A |
G |
16: 38,829,160 (GRCm39) |
Q77R |
probably damaging |
Het |
| Lrig1 |
C |
A |
6: 94,603,358 (GRCm39) |
M263I |
probably benign |
Het |
| Ms4a14 |
C |
T |
19: 11,279,047 (GRCm39) |
M1170I |
probably benign |
Het |
| Ndufs7 |
G |
A |
10: 80,089,618 (GRCm39) |
|
probably null |
Het |
| Nectin4 |
A |
T |
1: 171,214,246 (GRCm39) |
E467V |
probably benign |
Het |
| Or8d1b |
A |
G |
9: 38,887,560 (GRCm39) |
E196G |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,642,525 (GRCm39) |
H1302Y |
probably benign |
Het |
| Pigg |
A |
G |
5: 108,466,841 (GRCm39) |
S241G |
probably benign |
Het |
| Pip4p1 |
C |
T |
14: 51,168,090 (GRCm39) |
G48D |
possibly damaging |
Het |
| Pom121l12 |
T |
A |
11: 14,549,843 (GRCm39) |
V183D |
probably damaging |
Het |
| Prickle2 |
T |
A |
6: 92,388,205 (GRCm39) |
E455V |
probably damaging |
Het |
| Ptpn4 |
A |
C |
1: 119,620,532 (GRCm39) |
V488G |
probably benign |
Het |
| Ranbp10 |
A |
G |
8: 106,499,723 (GRCm39) |
I502T |
probably benign |
Het |
| Raph1 |
T |
A |
1: 60,572,447 (GRCm39) |
Q40L |
possibly damaging |
Het |
| Rgs22 |
A |
T |
15: 36,026,127 (GRCm39) |
C1056S |
probably damaging |
Het |
| Serpinb6b |
G |
A |
13: 33,152,590 (GRCm39) |
S33N |
probably damaging |
Het |
| Serpinb6d |
A |
G |
13: 33,853,082 (GRCm39) |
N158S |
probably benign |
Het |
| Serping1 |
A |
T |
2: 84,600,448 (GRCm39) |
V298D |
probably damaging |
Het |
| Sgsm1 |
T |
A |
5: 113,414,196 (GRCm39) |
H637L |
probably benign |
Het |
| Sh3rf2 |
G |
T |
18: 42,234,753 (GRCm39) |
V179L |
probably damaging |
Het |
| Slc1a3 |
T |
C |
15: 8,680,472 (GRCm39) |
T129A |
probably benign |
Het |
| Slit1 |
T |
A |
19: 41,592,847 (GRCm39) |
Y1202F |
probably benign |
Het |
| Spsb2 |
T |
C |
6: 124,786,656 (GRCm39) |
S130P |
probably damaging |
Het |
| Sulf1 |
A |
G |
1: 12,913,013 (GRCm39) |
D749G |
probably benign |
Het |
| Taok3 |
A |
G |
5: 117,331,813 (GRCm39) |
E10G |
possibly damaging |
Het |
| Tbl3 |
G |
T |
17: 24,923,136 (GRCm39) |
A368D |
probably benign |
Het |
| Tdh |
T |
A |
14: 63,733,507 (GRCm39) |
H127L |
probably damaging |
Het |
| Tmem205 |
C |
A |
9: 21,838,703 (GRCm39) |
|
probably null |
Het |
| Tmem30a |
A |
C |
9: 79,687,826 (GRCm39) |
F114L |
possibly damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,800,308 (GRCm39) |
K607E |
probably benign |
Het |
| Tnxb |
A |
T |
17: 34,913,254 (GRCm39) |
D1756V |
probably damaging |
Het |
| Trhde |
A |
G |
10: 114,623,969 (GRCm39) |
F312L |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,656,793 (GRCm39) |
P12494L |
probably null |
Het |
| Vmn2r61 |
A |
G |
7: 41,916,097 (GRCm39) |
R237G |
probably benign |
Het |
| Vps13c |
A |
T |
9: 67,847,798 (GRCm39) |
N2187Y |
probably damaging |
Het |
| Wdr64 |
A |
G |
1: 175,617,495 (GRCm39) |
T692A |
probably benign |
Het |
| Whamm |
A |
G |
7: 81,221,172 (GRCm39) |
N35D |
probably damaging |
Het |
| Wnt2 |
T |
C |
6: 18,023,335 (GRCm39) |
S105G |
probably damaging |
Het |
| Zfp108 |
T |
A |
7: 23,960,952 (GRCm39) |
H514Q |
probably benign |
Het |
| Zftraf1 |
C |
T |
15: 76,532,386 (GRCm39) |
D241N |
probably benign |
Het |
| Znfx1 |
T |
C |
2: 166,884,589 (GRCm39) |
K888E |
possibly damaging |
Het |
| Zzz3 |
T |
C |
3: 152,154,479 (GRCm39) |
Y577H |
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 |
|
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'- AGCACGTCTTTTGTGACCTC -3'
(R):5'- TGATGCTGGGCTATATTTCATCCC -3'
Sequencing Primer
(F):5'- TCACAAAATAGACCAAACTATTAGGG -3'
(R):5'- GCACTTATTATGAAGCCTGAAGCC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation