Incidental Mutation 'IGL01767:Eprs1'
| ID |
153363 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eprs1
|
| Ensembl Gene |
ENSMUSG00000026615 |
| Gene Name |
glutamyl-prolyl-tRNA synthetase 1 |
| Synonyms |
3010002K18Rik, 2410081F06Rik, Qprs, Eprs |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01767
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
185095241-185160557 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 185117112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 385
(D385G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045841
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046514]
[ENSMUST00000191900]
|
| AlphaFold |
Q8CGC7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046514
AA Change: D385G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000045841
Gene: ENSMUSG00000026615
AA Change: D385G
| 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
|
| Coding Region Coverage |
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
A |
T |
8: 60,960,126 (GRCm39) |
D31V |
probably damaging |
Het |
| Acaca |
A |
T |
11: 84,211,368 (GRCm39) |
Y1560F |
probably benign |
Het |
| Actl7a |
A |
G |
4: 56,743,980 (GRCm39) |
E169G |
probably damaging |
Het |
| Adgrb3 |
A |
G |
1: 25,598,895 (GRCm39) |
V270A |
probably benign |
Het |
| Adgre4 |
G |
A |
17: 56,104,740 (GRCm39) |
V269I |
probably benign |
Het |
| Ankhd1 |
A |
G |
18: 36,781,427 (GRCm39) |
T2160A |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,095,512 (GRCm39) |
V4505A |
probably benign |
Het |
| Bnip2 |
T |
A |
9: 69,909,398 (GRCm39) |
|
probably benign |
Het |
| Casp16 |
A |
G |
17: 23,771,027 (GRCm39) |
V126A |
probably damaging |
Het |
| Ccser1 |
C |
A |
6: 61,695,136 (GRCm39) |
T157K |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,151,503 (GRCm39) |
S2459P |
probably damaging |
Het |
| Cdk5rap3 |
A |
T |
11: 96,804,291 (GRCm39) |
C21S |
probably damaging |
Het |
| Chmp6 |
G |
A |
11: 119,807,812 (GRCm39) |
E72K |
probably benign |
Het |
| Cldn23 |
T |
C |
8: 36,292,816 (GRCm39) |
Y224C |
probably damaging |
Het |
| Cry1 |
C |
T |
10: 84,982,338 (GRCm39) |
G336D |
probably damaging |
Het |
| Cyp4f17 |
T |
A |
17: 32,725,956 (GRCm39) |
F30I |
probably benign |
Het |
| Dgcr8 |
T |
A |
16: 18,096,200 (GRCm39) |
D496V |
probably damaging |
Het |
| Dhx9 |
A |
G |
1: 153,344,614 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
C |
T |
5: 124,820,801 (GRCm39) |
|
probably benign |
Het |
| Dock9 |
T |
C |
14: 121,860,282 (GRCm39) |
E880G |
possibly damaging |
Het |
| Dscam |
A |
G |
16: 96,456,136 (GRCm39) |
V1264A |
probably damaging |
Het |
| Eno1 |
T |
C |
4: 150,331,167 (GRCm39) |
Y270H |
probably benign |
Het |
| Ercc2 |
A |
G |
7: 19,124,346 (GRCm39) |
Y215C |
probably damaging |
Het |
| Fscn2 |
A |
G |
11: 120,258,576 (GRCm39) |
N400S |
possibly damaging |
Het |
| Fuca1 |
C |
T |
4: 135,666,512 (GRCm39) |
T449I |
probably benign |
Het |
| Gm43638 |
T |
C |
5: 87,613,290 (GRCm39) |
K492E |
probably damaging |
Het |
| Gm5263 |
T |
G |
1: 146,296,302 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8122 |
T |
C |
14: 43,090,158 (GRCm39) |
T111A |
unknown |
Het |
| Gtf3c2 |
T |
A |
5: 31,314,979 (GRCm39) |
N923Y |
probably benign |
Het |
| Il17a |
T |
A |
1: 20,803,864 (GRCm39) |
D86E |
probably benign |
Het |
| Itgb2l |
G |
T |
16: 96,231,775 (GRCm39) |
N330K |
probably benign |
Het |
| Kcnj11 |
T |
C |
7: 45,748,489 (GRCm39) |
H278R |
probably benign |
Het |
| Khdrbs2 |
T |
A |
1: 32,658,257 (GRCm39) |
Y272* |
probably null |
Het |
| Kndc1 |
A |
T |
7: 139,509,959 (GRCm39) |
Q1267L |
probably damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,374,120 (GRCm39) |
F64I |
possibly damaging |
Het |
| Lrig2 |
T |
A |
3: 104,398,861 (GRCm39) |
K222N |
probably benign |
Het |
| Lrrcc1 |
T |
A |
3: 14,612,332 (GRCm39) |
Y378N |
probably damaging |
Het |
| Mblac2 |
T |
C |
13: 81,898,434 (GRCm39) |
L270P |
probably damaging |
Het |
| Med13 |
A |
T |
11: 86,210,609 (GRCm39) |
I511N |
probably benign |
Het |
| Myo3a |
A |
T |
2: 22,428,033 (GRCm39) |
E763D |
probably damaging |
Het |
| Or1e25 |
T |
A |
11: 73,493,858 (GRCm39) |
F151I |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or4a68 |
C |
T |
2: 89,270,144 (GRCm39) |
V160I |
probably benign |
Het |
| Or5b97 |
T |
A |
19: 12,879,112 (GRCm39) |
T11S |
probably benign |
Het |
| Or7g27 |
G |
A |
9: 19,250,598 (GRCm39) |
V281I |
possibly damaging |
Het |
| Plxna4 |
T |
A |
6: 32,214,613 (GRCm39) |
I623F |
possibly damaging |
Het |
| Ppp2ca |
T |
A |
11: 52,008,882 (GRCm39) |
Y127* |
probably null |
Het |
| Psg18 |
A |
G |
7: 18,087,322 (GRCm39) |
V112A |
possibly damaging |
Het |
| Ptprj |
A |
T |
2: 90,299,918 (GRCm39) |
N108K |
probably benign |
Het |
| Rictor |
A |
G |
15: 6,806,865 (GRCm39) |
Y707C |
probably damaging |
Het |
| Rptn |
T |
C |
3: 93,302,946 (GRCm39) |
F93S |
probably benign |
Het |
| Rxrg |
T |
A |
1: 167,454,884 (GRCm39) |
C156S |
probably damaging |
Het |
| Slc24a4 |
T |
C |
12: 102,189,946 (GRCm39) |
|
probably benign |
Het |
| Slc25a27 |
C |
T |
17: 43,974,964 (GRCm39) |
|
probably null |
Het |
| Slx4 |
T |
C |
16: 3,808,112 (GRCm39) |
K481E |
probably benign |
Het |
| Snx19 |
T |
C |
9: 30,374,560 (GRCm39) |
W940R |
possibly damaging |
Het |
| Spopfm1 |
T |
A |
3: 94,173,791 (GRCm39) |
D262E |
probably benign |
Het |
| Tasor2 |
G |
A |
13: 3,626,633 (GRCm39) |
P1106S |
probably benign |
Het |
| Tcf20 |
G |
A |
15: 82,740,209 (GRCm39) |
P414L |
probably damaging |
Het |
| Treml2 |
T |
C |
17: 48,609,838 (GRCm39) |
V90A |
probably benign |
Het |
| Uckl1 |
C |
T |
2: 181,211,327 (GRCm39) |
V501M |
probably damaging |
Het |
| Unc79 |
C |
T |
12: 103,108,256 (GRCm39) |
T1937I |
probably damaging |
Het |
| Vmn2r17 |
A |
T |
5: 109,567,903 (GRCm39) |
I9F |
probably benign |
Het |
| Vmn2r44 |
T |
C |
7: 8,383,237 (GRCm39) |
H119R |
probably benign |
Het |
| Vmn2r78 |
A |
G |
7: 86,603,643 (GRCm39) |
D607G |
probably benign |
Het |
| Vps13a |
C |
T |
19: 16,641,258 (GRCm39) |
G2288D |
probably damaging |
Het |
| Znfx1 |
G |
T |
2: 166,897,643 (GRCm39) |
T427N |
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 |
|
|
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 |
|
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 |
|
|
|
| Posted On |
2014-02-04 |
Incidental Mutation