Incidental Mutation 'R7729:Eprs1'
ID |
595677 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eprs1
|
Ensembl Gene |
ENSMUSG00000026615 |
Gene Name |
glutamyl-prolyl-tRNA synthetase 1 |
Synonyms |
3010002K18Rik, 2410081F06Rik, Qprs, Eprs |
MMRRC Submission |
045785-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7729 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
185095241-185160557 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 185145366 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 1130
(Y1130N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045841
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046514]
|
AlphaFold |
Q8CGC7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046514
AA Change: Y1130N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000045841 Gene: ENSMUSG00000026615 AA Change: Y1130N
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: 99.6%
- 20x: 98.7%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810024B03Rik |
T |
G |
2: 127,028,710 (GRCm39) |
D163A |
possibly damaging |
Het |
Abce1 |
A |
T |
8: 80,414,537 (GRCm39) |
I454N |
probably damaging |
Het |
Acaca |
A |
G |
11: 84,262,339 (GRCm39) |
I1980M |
probably damaging |
Het |
Adgrb2 |
C |
T |
4: 129,885,917 (GRCm39) |
T19M |
probably benign |
Het |
Agmo |
T |
A |
12: 37,464,974 (GRCm39) |
S417T |
probably benign |
Het |
Akap8l |
T |
C |
17: 32,552,068 (GRCm39) |
E403G |
probably damaging |
Het |
Art5 |
C |
T |
7: 101,747,711 (GRCm39) |
A23T |
possibly damaging |
Het |
Atg9a |
T |
C |
1: 75,161,204 (GRCm39) |
T681A |
probably benign |
Het |
Atp11b |
A |
G |
3: 35,832,256 (GRCm39) |
Q37R |
probably damaging |
Het |
Atp2a2 |
T |
C |
5: 122,629,829 (GRCm39) |
E80G |
probably benign |
Het |
AW551984 |
G |
A |
9: 39,511,071 (GRCm39) |
P172L |
possibly damaging |
Het |
Bace1 |
C |
T |
9: 45,769,743 (GRCm39) |
R296C |
probably damaging |
Het |
Ccser1 |
T |
A |
6: 61,288,840 (GRCm39) |
H334Q |
probably benign |
Het |
Chtf18 |
C |
T |
17: 25,942,491 (GRCm39) |
R449H |
probably damaging |
Het |
Cit |
A |
G |
5: 116,122,881 (GRCm39) |
H1384R |
possibly damaging |
Het |
Cltc |
A |
G |
11: 86,612,474 (GRCm39) |
I524T |
probably benign |
Het |
Dctn1 |
T |
A |
6: 83,160,042 (GRCm39) |
I94N |
probably damaging |
Het |
Dnhd1 |
A |
T |
7: 105,354,472 (GRCm39) |
D3078V |
probably damaging |
Het |
Dock7 |
G |
A |
4: 98,943,683 (GRCm39) |
P520S |
|
Het |
Epb41l4a |
C |
A |
18: 33,987,326 (GRCm39) |
K350N |
probably damaging |
Het |
Fcgrt |
T |
C |
7: 44,744,797 (GRCm39) |
T224A |
probably damaging |
Het |
Flt1 |
T |
A |
5: 147,637,177 (GRCm39) |
T39S |
probably benign |
Het |
Fxyd1 |
T |
C |
7: 30,752,896 (GRCm39) |
Y33C |
probably damaging |
Het |
Gab2 |
T |
A |
7: 96,950,633 (GRCm39) |
V442E |
probably damaging |
Het |
Ganab |
A |
G |
19: 8,892,076 (GRCm39) |
D800G |
probably benign |
Het |
Gata4 |
C |
A |
14: 63,478,186 (GRCm39) |
A138S |
probably benign |
Het |
Golga4 |
A |
G |
9: 118,385,131 (GRCm39) |
H751R |
possibly damaging |
Het |
H1f6 |
A |
G |
13: 23,880,455 (GRCm39) |
R203G |
possibly damaging |
Het |
Htra4 |
A |
G |
8: 25,527,093 (GRCm39) |
V234A |
possibly damaging |
Het |
Igkv4-74 |
A |
T |
6: 69,161,954 (GRCm39) |
Y72N |
probably damaging |
Het |
Iqsec3 |
T |
C |
6: 121,360,940 (GRCm39) |
K973E |
probably damaging |
Het |
Khdc1b |
C |
A |
1: 21,455,065 (GRCm39) |
T108K |
probably benign |
Het |
Krtap5-1 |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
7: 141,850,333 (GRCm39) |
|
probably benign |
Het |
Kyat3 |
A |
G |
3: 142,432,066 (GRCm39) |
|
probably null |
Het |
Lrba |
T |
A |
3: 86,225,474 (GRCm39) |
V666E |
probably damaging |
Het |
Mettl25 |
T |
A |
10: 105,601,871 (GRCm39) |
Y528F |
probably benign |
Het |
Mms19 |
A |
T |
19: 41,940,904 (GRCm39) |
Y619* |
probably null |
Het |
Nlrp12 |
A |
C |
7: 3,277,020 (GRCm39) |
|
probably null |
Het |
Nol10 |
C |
T |
12: 17,474,676 (GRCm39) |
L623F |
possibly damaging |
Het |
Oas1g |
A |
G |
5: 121,024,063 (GRCm39) |
F82S |
probably damaging |
Het |
Or1j8 |
T |
G |
2: 36,191,772 (GRCm39) |
S74A |
probably benign |
Het |
Or5k3 |
C |
T |
16: 58,969,570 (GRCm39) |
A119V |
probably damaging |
Het |
Or8g18 |
G |
A |
9: 39,149,546 (GRCm39) |
P58L |
probably benign |
Het |
Oxr1 |
G |
A |
15: 41,686,863 (GRCm39) |
E582K |
probably damaging |
Het |
Pdia3 |
A |
G |
2: 121,262,838 (GRCm39) |
D268G |
possibly damaging |
Het |
Pramel13 |
T |
C |
4: 144,119,434 (GRCm39) |
S378G |
probably damaging |
Het |
Rcor3 |
A |
G |
1: 191,786,078 (GRCm39) |
Y387H |
probably damaging |
Het |
Rigi |
T |
A |
4: 40,206,034 (GRCm39) |
I853F |
possibly damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
Rsl1 |
T |
C |
13: 67,330,284 (GRCm39) |
L244P |
possibly damaging |
Het |
Scn5a |
G |
T |
9: 119,324,606 (GRCm39) |
N1407K |
probably damaging |
Het |
Sdcbp |
C |
T |
4: 6,378,985 (GRCm39) |
A24V |
probably benign |
Het |
Slc22a8 |
A |
G |
19: 8,571,323 (GRCm39) |
Y18C |
possibly damaging |
Het |
Slc35d1 |
C |
T |
4: 103,072,044 (GRCm39) |
R7H |
probably damaging |
Het |
Slco6d1 |
A |
T |
1: 98,425,248 (GRCm39) |
T599S |
probably damaging |
Het |
Spata31d1e |
C |
T |
13: 59,889,437 (GRCm39) |
M794I |
not run |
Het |
St18 |
T |
A |
1: 6,872,761 (GRCm39) |
H165Q |
probably benign |
Het |
Sub1 |
C |
T |
15: 11,986,589 (GRCm39) |
R86K |
probably damaging |
Het |
Tectb |
G |
A |
19: 55,181,104 (GRCm39) |
V148M |
|
Het |
Tgfb2 |
C |
A |
1: 186,362,954 (GRCm39) |
G290V |
possibly damaging |
Het |
Tgm7 |
T |
C |
2: 120,924,191 (GRCm39) |
H577R |
probably benign |
Het |
Tle2 |
T |
C |
10: 81,422,981 (GRCm39) |
S460P |
probably damaging |
Het |
Tmem221 |
C |
A |
8: 72,011,446 (GRCm39) |
R3L |
possibly damaging |
Het |
Tnfrsf19 |
C |
A |
14: 61,212,183 (GRCm39) |
V156L |
possibly damaging |
Het |
Trav6-5 |
A |
G |
14: 53,728,964 (GRCm39) |
K75E |
probably benign |
Het |
Trip10 |
G |
A |
17: 57,569,442 (GRCm39) |
G488S |
probably damaging |
Het |
Usp34 |
A |
C |
11: 23,399,268 (GRCm39) |
K2419T |
|
Het |
Vps13d |
T |
C |
4: 144,801,622 (GRCm39) |
Q3532R |
|
Het |
Vps4a |
A |
T |
8: 107,767,529 (GRCm39) |
I163L |
probably damaging |
Het |
Wrn |
T |
C |
8: 33,814,454 (GRCm39) |
H330R |
probably benign |
Het |
Xpr1 |
T |
C |
1: 155,188,618 (GRCm39) |
I341V |
probably benign |
Het |
Zfyve9 |
T |
C |
4: 108,548,973 (GRCm39) |
E105G |
probably benign |
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 |
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'- GCATTAGCTCGCTAGGTAGAC -3'
(R):5'- CCAGTCAGCACAGGAAATAGTG -3'
Sequencing Primer
(F):5'- GACCTGTGTCTCTTCAGGATTCTG -3'
(R):5'- GCCACAAATCCTGAGAAG -3'
|
Posted On |
2019-11-12 |