Incidental Mutation 'R9489:Eprs1'
ID |
716794 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eprs1
|
Ensembl Gene |
ENSMUSG00000026615 |
Gene Name |
glutamyl-prolyl-tRNA synthetase 1 |
Synonyms |
3010002K18Rik, 2410081F06Rik, Qprs, Eprs |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9489 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
185095241-185160557 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 185139895 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 995
(S995R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045841
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046514]
|
AlphaFold |
Q8CGC7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046514
AA Change: S995R
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000045841 Gene: ENSMUSG00000026615 AA Change: S995R
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: 99.3%
|
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: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930486L24Rik |
T |
A |
13: 61,002,683 (GRCm39) |
S24C |
probably damaging |
Het |
6430548M08Rik |
G |
A |
8: 120,872,380 (GRCm39) |
V103I |
possibly damaging |
Het |
Acaca |
C |
T |
11: 84,183,842 (GRCm39) |
T1240I |
probably benign |
Het |
Adam19 |
T |
C |
11: 46,028,449 (GRCm39) |
V694A |
probably benign |
Het |
Adipor1 |
A |
G |
1: 134,352,553 (GRCm39) |
D108G |
probably damaging |
Het |
Arhgef4 |
A |
G |
1: 34,761,745 (GRCm39) |
T334A |
unknown |
Het |
Bcl11a |
T |
C |
11: 24,114,582 (GRCm39) |
F642L |
probably benign |
Het |
Camk2d |
T |
C |
3: 126,561,209 (GRCm39) |
Y108H |
probably damaging |
Het |
Castor2 |
G |
T |
5: 134,164,536 (GRCm39) |
V166L |
probably benign |
Het |
Catsper1 |
A |
G |
19: 5,387,785 (GRCm39) |
T355A |
probably benign |
Het |
Ccdc69 |
T |
A |
11: 54,945,856 (GRCm39) |
N50I |
possibly damaging |
Het |
Chd8 |
A |
T |
14: 52,457,055 (GRCm39) |
L971Q |
probably damaging |
Het |
Chrna10 |
C |
A |
7: 101,762,801 (GRCm39) |
A130S |
probably benign |
Het |
Ciao1 |
G |
A |
2: 127,087,684 (GRCm39) |
T217I |
probably damaging |
Het |
Cldn1 |
A |
T |
16: 26,181,924 (GRCm39) |
I95N |
probably damaging |
Het |
Cluh |
C |
T |
11: 74,558,772 (GRCm39) |
R1253C |
possibly damaging |
Het |
Cngb3 |
A |
T |
4: 19,505,187 (GRCm39) |
Q640L |
probably benign |
Het |
Cyp2c40 |
A |
T |
19: 39,766,443 (GRCm39) |
V384D |
probably damaging |
Het |
Cyp2d26 |
T |
A |
15: 82,674,672 (GRCm39) |
M437L |
probably benign |
Het |
Cyp2j7 |
T |
C |
4: 96,103,591 (GRCm39) |
T315A |
probably damaging |
Het |
D430041D05Rik |
A |
G |
2: 104,087,189 (GRCm39) |
S596P |
probably benign |
Het |
Dagla |
A |
T |
19: 10,233,053 (GRCm39) |
V448D |
probably damaging |
Het |
Ddx59 |
A |
T |
1: 136,344,594 (GRCm39) |
E88D |
probably benign |
Het |
Dnhd1 |
A |
G |
7: 105,300,804 (GRCm39) |
I54V |
probably benign |
Het |
Dnttip1 |
A |
C |
2: 164,593,162 (GRCm39) |
D95A |
probably benign |
Het |
Efna3 |
T |
C |
3: 89,222,818 (GRCm39) |
T207A |
probably benign |
Het |
Erbb2 |
T |
C |
11: 98,311,746 (GRCm39) |
V94A |
possibly damaging |
Het |
Etl4 |
A |
T |
2: 20,771,345 (GRCm39) |
I607F |
possibly damaging |
Het |
Ets2 |
G |
T |
16: 95,516,121 (GRCm39) |
E234* |
probably null |
Het |
Fgf6 |
A |
C |
6: 126,992,814 (GRCm39) |
Y89S |
probably damaging |
Het |
Fmn2 |
C |
T |
1: 174,436,194 (GRCm39) |
Q722* |
probably null |
Het |
Gata3un |
CGG |
CG |
2: 9,888,075 (GRCm39) |
|
probably null |
Het |
Gdpd5 |
A |
G |
7: 99,103,031 (GRCm39) |
D330G |
|
Het |
Glipr1 |
A |
G |
10: 111,832,801 (GRCm39) |
S46P |
probably damaging |
Het |
Gnptab |
A |
G |
10: 88,268,992 (GRCm39) |
Y565C |
probably damaging |
Het |
H2-M10.2 |
C |
T |
17: 36,596,936 (GRCm39) |
V47I |
probably benign |
Het |
Heatr5b |
T |
A |
17: 79,060,679 (GRCm39) |
K1999* |
probably null |
Het |
Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
Kif9 |
G |
A |
9: 110,346,710 (GRCm39) |
R616H |
probably benign |
Het |
Krt87 |
G |
T |
15: 101,336,484 (GRCm39) |
C56* |
probably null |
Het |
Ldlr |
A |
G |
9: 21,646,626 (GRCm39) |
D264G |
probably damaging |
Het |
Lrrk2 |
A |
T |
15: 91,621,420 (GRCm39) |
D998V |
probably benign |
Het |
Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
Mmp9 |
A |
G |
2: 164,793,146 (GRCm39) |
N432D |
probably benign |
Het |
Mrc1 |
A |
G |
2: 14,324,110 (GRCm39) |
N1149S |
probably benign |
Het |
Mta1 |
A |
T |
12: 113,095,085 (GRCm39) |
M448L |
probably benign |
Het |
Myo1c |
T |
A |
11: 75,559,899 (GRCm39) |
V661E |
probably benign |
Het |
Ndc1 |
T |
C |
4: 107,247,863 (GRCm39) |
|
probably null |
Het |
Npy |
A |
C |
6: 49,804,545 (GRCm39) |
T89P |
possibly damaging |
Het |
Or12e13 |
T |
G |
2: 87,663,478 (GRCm39) |
F32V |
probably benign |
Het |
Or52e19 |
A |
G |
7: 102,959,452 (GRCm39) |
I175V |
probably benign |
Het |
Or52e8 |
A |
T |
7: 104,624,856 (GRCm39) |
M116K |
probably damaging |
Het |
Or8b12i |
A |
G |
9: 20,082,093 (GRCm39) |
V258A |
probably damaging |
Het |
Osgin2 |
G |
T |
4: 15,998,427 (GRCm39) |
H398Q |
probably damaging |
Het |
Pepd |
A |
C |
7: 34,743,218 (GRCm39) |
D419A |
probably benign |
Het |
Pikfyve |
A |
T |
1: 65,303,561 (GRCm39) |
S1694C |
probably benign |
Het |
Polq |
A |
G |
16: 36,843,173 (GRCm39) |
I236V |
probably benign |
Het |
Prkag3 |
T |
G |
1: 74,786,378 (GRCm39) |
Q189P |
probably damaging |
Het |
Rab6b |
A |
T |
9: 103,017,601 (GRCm39) |
T31S |
probably benign |
Het |
Ralgapb |
C |
T |
2: 158,268,283 (GRCm39) |
P129S |
possibly damaging |
Het |
Ryr3 |
A |
T |
2: 112,491,966 (GRCm39) |
L3795Q |
probably damaging |
Het |
Sash1 |
C |
T |
10: 8,605,169 (GRCm39) |
V1074M |
probably benign |
Het |
Scfd2 |
T |
C |
5: 74,680,235 (GRCm39) |
D306G |
probably damaging |
Het |
Scg2 |
A |
G |
1: 79,412,936 (GRCm39) |
Y556H |
probably damaging |
Het |
Serpina3j |
A |
G |
12: 104,286,093 (GRCm39) |
N416S |
probably damaging |
Het |
Serpinb6c |
T |
A |
13: 34,081,421 (GRCm39) |
Q76L |
probably null |
Het |
Setd7 |
G |
A |
3: 51,450,139 (GRCm39) |
Q96* |
probably null |
Het |
Sf3b4 |
C |
T |
3: 96,080,946 (GRCm39) |
R85W |
probably damaging |
Het |
Sik3 |
T |
A |
9: 46,120,117 (GRCm39) |
H735Q |
probably benign |
Het |
Slain1 |
A |
C |
14: 103,902,112 (GRCm39) |
T60P |
|
Het |
Slc36a3 |
T |
C |
11: 55,040,726 (GRCm39) |
E69G |
unknown |
Het |
Sorcs3 |
A |
T |
19: 48,711,364 (GRCm39) |
Y643F |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,035,880 (GRCm39) |
Y1062C |
probably damaging |
Het |
Ssc5d |
C |
T |
7: 4,940,599 (GRCm39) |
P904L |
probably benign |
Het |
Stat5b |
T |
A |
11: 100,699,276 (GRCm39) |
H25L |
possibly damaging |
Het |
Synj2 |
A |
G |
17: 6,063,794 (GRCm39) |
I513V |
probably benign |
Het |
Tenm2 |
T |
C |
11: 36,834,791 (GRCm39) |
E68G |
probably damaging |
Het |
Thsd7a |
C |
T |
6: 12,352,022 (GRCm39) |
G1058R |
|
Het |
Traf3ip2 |
T |
A |
10: 39,521,772 (GRCm39) |
D443E |
probably benign |
Het |
Traf6 |
G |
T |
2: 101,524,625 (GRCm39) |
C235F |
probably damaging |
Het |
Treh |
A |
G |
9: 44,592,416 (GRCm39) |
D47G |
probably damaging |
Het |
Txndc16 |
A |
T |
14: 45,442,799 (GRCm39) |
F132Y |
probably damaging |
Het |
Uggt1 |
A |
T |
1: 36,273,886 (GRCm39) |
|
probably null |
Het |
Usp25 |
A |
T |
16: 76,874,046 (GRCm39) |
I541F |
probably damaging |
Het |
Zfp51 |
A |
G |
17: 21,684,291 (GRCm39) |
E302G |
probably damaging |
Het |
Zfp648 |
A |
T |
1: 154,080,110 (GRCm39) |
T90S |
probably benign |
Het |
Zfp84 |
A |
G |
7: 29,476,264 (GRCm39) |
T319A |
possibly damaging |
Het |
Zkscan17 |
T |
A |
11: 59,378,037 (GRCm39) |
H538L |
probably damaging |
Het |
Zyg11a |
G |
T |
4: 108,062,376 (GRCm39) |
P142T |
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 |
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 |
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'- CTTCAGCTGAAGGCACAGTAC -3'
(R):5'- TCTAAGTCTAAGGTGAGCAGGTG -3'
Sequencing Primer
(F):5'- GGCACAGTACAAGTCGCTGAC -3'
(R):5'- GTGATGTGCTGCCTATTTTTAACATC -3'
|
Posted On |
2022-07-18 |