Incidental Mutation 'R5640:Eprs1'
| ID |
440579 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eprs1
|
| Ensembl Gene |
ENSMUSG00000026615 |
| Gene Name |
glutamyl-prolyl-tRNA synthetase 1 |
| Synonyms |
3010002K18Rik, 2410081F06Rik, Qprs, Eprs |
| MMRRC Submission |
043289-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5640 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
185095241-185160557 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 185106381 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 199
(T199A)
|
| 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: T199A
PolyPhen 2
Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000045841
Gene: ENSMUSG00000026615
AA Change: T199A
| 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: ENSMUST00000192324
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193788
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194157
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
A |
G |
11: 105,861,511 (GRCm39) |
Y220C |
probably damaging |
Het |
| Actl6a |
A |
G |
3: 32,772,199 (GRCm39) |
T170A |
probably damaging |
Het |
| Adamts8 |
T |
C |
9: 30,867,796 (GRCm39) |
V540A |
probably benign |
Het |
| Aga |
T |
C |
8: 53,964,919 (GRCm39) |
L27P |
probably damaging |
Het |
| Agmat |
T |
A |
4: 141,483,134 (GRCm39) |
H189Q |
probably damaging |
Het |
| Alx3 |
C |
A |
3: 107,507,977 (GRCm39) |
T162K |
probably damaging |
Het |
| Armc2 |
T |
A |
10: 41,887,894 (GRCm39) |
I30L |
possibly damaging |
Het |
| Atp10d |
T |
G |
5: 72,404,552 (GRCm39) |
Y487D |
probably damaging |
Het |
| Atp13a4 |
C |
T |
16: 29,234,649 (GRCm39) |
M908I |
probably damaging |
Het |
| B4galt2 |
T |
G |
4: 117,731,195 (GRCm39) |
N322T |
probably benign |
Het |
| Bmal1 |
C |
T |
7: 112,907,888 (GRCm39) |
P530L |
probably damaging |
Het |
| Brdt |
A |
T |
5: 107,507,174 (GRCm39) |
K525* |
probably null |
Het |
| Ccdc168 |
T |
C |
1: 44,101,087 (GRCm39) |
I4V |
probably benign |
Het |
| Ces3a |
T |
A |
8: 105,778,377 (GRCm39) |
M246K |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,763,190 (GRCm39) |
H2338Q |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,389,633 (GRCm39) |
D244V |
possibly damaging |
Het |
| Dhrs9 |
C |
A |
2: 69,224,822 (GRCm39) |
A170E |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,220,529 (GRCm39) |
N550D |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 31,022,082 (GRCm39) |
T3894I |
probably damaging |
Het |
| Dpys |
T |
C |
15: 39,705,462 (GRCm39) |
H217R |
probably damaging |
Het |
| Dpysl2 |
C |
T |
14: 67,071,817 (GRCm39) |
V108I |
probably benign |
Het |
| Fads1 |
A |
G |
19: 10,163,767 (GRCm39) |
D183G |
probably damaging |
Het |
| Fam110b |
T |
G |
4: 5,798,689 (GRCm39) |
Y36D |
probably damaging |
Het |
| Fbxl21 |
G |
A |
13: 56,685,194 (GRCm39) |
D407N |
probably benign |
Het |
| Fuca2 |
G |
A |
10: 13,383,174 (GRCm39) |
|
probably null |
Het |
| Gnas |
C |
A |
2: 174,126,764 (GRCm39) |
R100S |
probably benign |
Het |
| Gse1 |
A |
G |
8: 121,289,416 (GRCm39) |
H90R |
possibly damaging |
Het |
| Hoxc10 |
G |
T |
15: 102,875,702 (GRCm39) |
C137F |
probably benign |
Het |
| Ipp |
T |
G |
4: 116,377,886 (GRCm39) |
L252R |
possibly damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,061,857 (GRCm39) |
S1403R |
probably benign |
Het |
| Kif19a |
A |
G |
11: 114,670,041 (GRCm39) |
M79V |
probably benign |
Het |
| Lipo4 |
T |
C |
19: 33,478,986 (GRCm39) |
T285A |
possibly damaging |
Het |
| Lrrc66 |
A |
T |
5: 73,765,977 (GRCm39) |
D355E |
probably benign |
Het |
| Lrsam1 |
T |
A |
2: 32,835,864 (GRCm39) |
Q301L |
probably benign |
Het |
| Med6 |
C |
T |
12: 81,628,628 (GRCm39) |
R138Q |
probably damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,202,421 (GRCm39) |
T174A |
probably benign |
Het |
| Nrbp1 |
C |
T |
5: 31,406,929 (GRCm39) |
R322W |
possibly damaging |
Het |
| Or10ak14 |
T |
A |
4: 118,610,986 (GRCm39) |
T250S |
probably benign |
Het |
| Or11g24 |
C |
A |
14: 50,662,111 (GRCm39) |
A45D |
probably benign |
Het |
| Or4a47 |
T |
A |
2: 89,666,282 (GRCm39) |
E2D |
probably benign |
Het |
| Pde3a |
A |
G |
6: 141,429,641 (GRCm39) |
E734G |
probably damaging |
Het |
| Pgap6 |
C |
T |
17: 26,337,846 (GRCm39) |
T410I |
possibly damaging |
Het |
| Pnpla7 |
C |
T |
2: 24,893,013 (GRCm39) |
T167I |
possibly damaging |
Het |
| Pop7 |
T |
C |
5: 137,500,321 (GRCm39) |
N4S |
possibly damaging |
Het |
| Ppm1h |
C |
A |
10: 122,618,183 (GRCm39) |
P114Q |
probably benign |
Het |
| Prdm16 |
T |
C |
4: 154,426,367 (GRCm39) |
T473A |
probably benign |
Het |
| Prdm6 |
T |
C |
18: 53,669,813 (GRCm39) |
|
probably null |
Het |
| Prkdc |
T |
G |
16: 15,647,633 (GRCm39) |
W3686G |
possibly damaging |
Het |
| Ptchd4 |
C |
A |
17: 42,814,026 (GRCm39) |
H642Q |
possibly damaging |
Het |
| Rad1 |
A |
G |
15: 10,496,009 (GRCm39) |
Y228C |
possibly damaging |
Het |
| Rgs22 |
G |
A |
15: 36,107,101 (GRCm39) |
T56I |
probably benign |
Het |
| Rnf135 |
C |
A |
11: 80,084,733 (GRCm39) |
H169N |
probably benign |
Het |
| Rnft1 |
C |
T |
11: 86,377,319 (GRCm39) |
Q128* |
probably null |
Het |
| Sez6 |
T |
C |
11: 77,864,585 (GRCm39) |
|
probably benign |
Het |
| Sh3rf3 |
A |
G |
10: 58,649,769 (GRCm39) |
S125G |
probably benign |
Het |
| Sik2 |
T |
C |
9: 50,826,806 (GRCm39) |
E295G |
possibly damaging |
Het |
| Themis |
A |
G |
10: 28,739,372 (GRCm39) |
Q614R |
probably damaging |
Het |
| Thsd7b |
T |
A |
1: 130,044,408 (GRCm39) |
C1129* |
probably null |
Het |
| Tmem68 |
A |
T |
4: 3,569,512 (GRCm39) |
F59L |
probably benign |
Het |
| Vmn2r107 |
A |
G |
17: 20,595,426 (GRCm39) |
T660A |
probably damaging |
Het |
| Vwa5b2 |
G |
T |
16: 20,416,292 (GRCm39) |
C484F |
probably damaging |
Het |
| Zfp418 |
T |
A |
7: 7,184,980 (GRCm39) |
C314* |
probably null |
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 |
|
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'- TGATGGAGTCGTCATTCTGC -3'
(R):5'- GGCTGCAGAAATCTCAAAGTATAAG -3'
Sequencing Primer
(F):5'- GAGTCGTCATTCTGCTTGTGACC -3'
(R):5'- CAGATGTTGTCTCTATTGCCTTAATG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation