Incidental Mutation 'R1514:Eprs1'
| ID |
168597 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eprs1
|
| Ensembl Gene |
ENSMUSG00000026615 |
| Gene Name |
glutamyl-prolyl-tRNA synthetase 1 |
| Synonyms |
3010002K18Rik, 2410081F06Rik, Qprs, Eprs |
| MMRRC Submission |
039561-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1514 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
185095241-185160557 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 185114031 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 326
(M326I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045841
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046514]
[ENSMUST00000191900]
[ENSMUST00000195824]
|
| AlphaFold |
Q8CGC7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046514
AA Change: M326I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045841
Gene: ENSMUSG00000026615
AA Change: M326I
| 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 |
noncoding transcript
Transcript: ENSMUST00000192284
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193788
|
| 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 |
0.5830 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (65/65) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
T |
A |
10: 100,448,729 (GRCm39) |
L147Q |
probably damaging |
Het |
| Aadacl4fm5 |
T |
C |
4: 144,504,329 (GRCm39) |
N274S |
probably damaging |
Het |
| Abcb1a |
A |
G |
5: 8,724,791 (GRCm39) |
T75A |
possibly damaging |
Het |
| Acvr1 |
A |
T |
2: 58,337,597 (GRCm39) |
L495* |
probably null |
Het |
| Add1 |
T |
C |
5: 34,767,961 (GRCm39) |
I240T |
probably benign |
Het |
| Adgra2 |
C |
A |
8: 27,611,306 (GRCm39) |
S870* |
probably null |
Het |
| Amer3 |
G |
A |
1: 34,618,408 (GRCm39) |
|
probably benign |
Het |
| Baz2b |
A |
T |
2: 59,792,670 (GRCm39) |
V486D |
probably benign |
Het |
| Bcorl1 |
T |
A |
X: 47,494,821 (GRCm39) |
D1697E |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,411,338 (GRCm39) |
D282G |
possibly damaging |
Het |
| Cep112 |
A |
G |
11: 108,362,880 (GRCm39) |
D200G |
probably damaging |
Het |
| Clec4a4 |
C |
T |
6: 122,967,401 (GRCm39) |
P26S |
probably benign |
Het |
| Crygf |
A |
C |
1: 65,967,197 (GRCm39) |
R102S |
possibly damaging |
Het |
| Cyp2b19 |
A |
T |
7: 26,466,585 (GRCm39) |
E404D |
probably benign |
Het |
| Dcdc2a |
A |
G |
13: 25,245,237 (GRCm39) |
I105V |
probably benign |
Het |
| Dus4l |
T |
C |
12: 31,690,938 (GRCm39) |
M238V |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,114,661 (GRCm39) |
T1010A |
probably benign |
Het |
| Fam124b |
T |
C |
1: 80,178,148 (GRCm39) |
T284A |
possibly damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,680,420 (GRCm39) |
|
probably benign |
Het |
| Gm16223 |
T |
A |
5: 42,225,298 (GRCm39) |
|
probably null |
Het |
| Gm4952 |
T |
A |
19: 12,604,278 (GRCm39) |
M230K |
probably damaging |
Het |
| Gm5828 |
C |
A |
1: 16,839,583 (GRCm39) |
|
noncoding transcript |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Ifna16 |
T |
A |
4: 88,594,979 (GRCm39) |
T39S |
possibly damaging |
Het |
| Kcnc3 |
G |
A |
7: 44,245,027 (GRCm39) |
G439D |
probably damaging |
Het |
| Kif1c |
T |
C |
11: 70,596,555 (GRCm39) |
S257P |
probably damaging |
Het |
| Kng1 |
A |
G |
16: 22,898,510 (GRCm39) |
K456E |
probably damaging |
Het |
| Lpxn |
T |
C |
19: 12,801,414 (GRCm39) |
L142P |
probably damaging |
Het |
| Lratd1 |
C |
T |
12: 14,199,864 (GRCm39) |
V288M |
probably damaging |
Het |
| Med23 |
A |
G |
10: 24,768,565 (GRCm39) |
|
probably benign |
Het |
| Mks1 |
A |
T |
11: 87,751,937 (GRCm39) |
D369V |
probably benign |
Het |
| Myo1d |
A |
T |
11: 80,576,734 (GRCm39) |
Y114N |
probably damaging |
Het |
| Npas2 |
A |
G |
1: 39,350,935 (GRCm39) |
D126G |
possibly damaging |
Het |
| Oga |
A |
G |
19: 45,765,370 (GRCm39) |
S146P |
probably damaging |
Het |
| Onecut2 |
T |
C |
18: 64,474,651 (GRCm39) |
F401L |
possibly damaging |
Het |
| Or10n1 |
T |
C |
9: 39,524,992 (GRCm39) |
I43T |
probably damaging |
Het |
| Or10v1 |
A |
G |
19: 11,873,978 (GRCm39) |
T198A |
probably benign |
Het |
| Or4f61 |
T |
C |
2: 111,922,381 (GRCm39) |
I222V |
probably benign |
Het |
| Parp11 |
T |
A |
6: 127,451,256 (GRCm39) |
F102Y |
possibly damaging |
Het |
| Pcnx1 |
C |
T |
12: 81,965,572 (GRCm39) |
H580Y |
probably damaging |
Het |
| Pde3b |
A |
G |
7: 114,130,001 (GRCm39) |
H852R |
probably damaging |
Het |
| Pira1 |
G |
A |
7: 3,742,639 (GRCm39) |
T23I |
possibly damaging |
Het |
| Pou2af1 |
A |
G |
9: 51,144,508 (GRCm39) |
T141A |
probably benign |
Het |
| Rgs22 |
A |
C |
15: 36,013,246 (GRCm39) |
V1190G |
probably benign |
Het |
| Rnf112 |
T |
C |
11: 61,341,236 (GRCm39) |
S450G |
probably benign |
Het |
| Rpgrip1l |
A |
T |
8: 91,987,378 (GRCm39) |
I893N |
probably damaging |
Het |
| Rps3a1 |
A |
G |
3: 86,045,834 (GRCm39) |
V210A |
probably benign |
Het |
| Runx2 |
C |
T |
17: 45,046,224 (GRCm39) |
A114T |
possibly damaging |
Het |
| Sardh |
A |
G |
2: 27,087,702 (GRCm39) |
V723A |
possibly damaging |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Secisbp2 |
A |
G |
13: 51,836,131 (GRCm39) |
S742G |
possibly damaging |
Het |
| Selenow |
G |
T |
7: 15,654,223 (GRCm39) |
|
probably benign |
Het |
| Slc30a4 |
A |
G |
2: 122,531,334 (GRCm39) |
V226A |
probably damaging |
Het |
| Sntb2 |
A |
G |
8: 107,718,164 (GRCm39) |
N291D |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,222,866 (GRCm39) |
T190A |
probably damaging |
Het |
| Spata31e5 |
T |
A |
1: 28,817,829 (GRCm39) |
T68S |
possibly damaging |
Het |
| Specc1 |
T |
A |
11: 62,047,358 (GRCm39) |
L909H |
probably damaging |
Het |
| Sprr1b |
T |
C |
3: 92,344,414 (GRCm39) |
*154W |
probably null |
Het |
| Taar4 |
T |
A |
10: 23,836,510 (GRCm39) |
M40K |
possibly damaging |
Het |
| Ubr2 |
A |
T |
17: 47,311,749 (GRCm39) |
L34H |
probably damaging |
Het |
| Ubxn6 |
T |
C |
17: 56,376,003 (GRCm39) |
K386R |
probably benign |
Het |
| Vmn2r112 |
A |
T |
17: 22,821,825 (GRCm39) |
T168S |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,344,667 (GRCm39) |
R2303* |
probably null |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp13 |
G |
T |
17: 23,795,386 (GRCm39) |
T395K |
probably damaging |
Het |
| Zfp281 |
A |
G |
1: 136,554,435 (GRCm39) |
N471S |
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 |
|
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 |
|
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'- AGCGTTTCACTGAGTAGCCCTTCC -3'
(R):5'- TCACCATGAAGAACGAGGCACTG -3'
Sequencing Primer
(F):5'- AGTAGCCCTTCCTGGCCTC -3'
(R):5'- ACATTCTCACACTGGGGC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation