Incidental Mutation 'R6701:Eprs1'
ID |
528712 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eprs1
|
Ensembl Gene |
ENSMUSG00000026615 |
Gene Name |
glutamyl-prolyl-tRNA synthetase 1 |
Synonyms |
3010002K18Rik, 2410081F06Rik, Qprs, Eprs |
MMRRC Submission |
044819-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6701 (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 G
at 185103087 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 78
(I78S)
|
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: I78S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000045841 Gene: ENSMUSG00000026615 AA Change: I78S
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 |
possibly damaging
Transcript: ENSMUST00000191900
AA Change: I78S
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000141467 Gene: ENSMUSG00000026615 AA Change: I78S
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: ENSMUST00000192588
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193788
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194157
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000195824
AA Change: I43S
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000141550 Gene: ENSMUSG00000026615 AA Change: I43S
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: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 96.0%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap12 |
A |
T |
10: 4,305,243 (GRCm39) |
K684N |
probably damaging |
Het |
Akna |
C |
T |
4: 63,313,517 (GRCm39) |
G202D |
probably benign |
Het |
Alpk1 |
T |
A |
3: 127,522,985 (GRCm39) |
D19V |
probably damaging |
Het |
Arid4a |
A |
T |
12: 71,134,286 (GRCm39) |
K1196I |
probably damaging |
Het |
Asic3 |
A |
T |
5: 24,619,127 (GRCm39) |
M140L |
possibly damaging |
Het |
Bfsp2 |
C |
T |
9: 103,357,077 (GRCm39) |
V117M |
possibly damaging |
Het |
Bltp3a |
T |
A |
17: 28,106,331 (GRCm39) |
C952* |
probably null |
Het |
Cd244a |
C |
A |
1: 171,401,723 (GRCm39) |
L150M |
possibly damaging |
Het |
Cd3e |
T |
C |
9: 44,912,351 (GRCm39) |
Y131C |
probably damaging |
Het |
Clptm1l |
T |
C |
13: 73,757,025 (GRCm39) |
I202T |
probably benign |
Het |
Cnot4 |
G |
T |
6: 35,045,539 (GRCm39) |
T224K |
probably damaging |
Het |
Col24a1 |
A |
G |
3: 145,020,141 (GRCm39) |
T171A |
probably benign |
Het |
Col6a3 |
C |
T |
1: 90,720,184 (GRCm39) |
R1552Q |
probably benign |
Het |
Dcc |
T |
A |
18: 71,942,191 (GRCm39) |
T309S |
probably benign |
Het |
Ddx21 |
T |
C |
10: 62,426,470 (GRCm39) |
Y461C |
probably damaging |
Het |
Dnah10 |
G |
A |
5: 124,837,223 (GRCm39) |
V989M |
probably benign |
Het |
Dppa4 |
A |
T |
16: 48,111,674 (GRCm39) |
K220* |
probably null |
Het |
Dysf |
G |
A |
6: 84,089,172 (GRCm39) |
G912S |
probably damaging |
Het |
Efhb |
A |
T |
17: 53,706,091 (GRCm39) |
N815K |
probably benign |
Het |
Eml6 |
T |
A |
11: 29,735,748 (GRCm39) |
L1139F |
probably damaging |
Het |
Fat1 |
C |
A |
8: 45,403,718 (GRCm39) |
S156R |
probably damaging |
Het |
Firrm |
T |
C |
1: 163,799,412 (GRCm39) |
|
probably null |
Het |
Frzb |
G |
A |
2: 80,277,163 (GRCm39) |
R8W |
possibly damaging |
Het |
Guf1 |
T |
A |
5: 69,715,596 (GRCm39) |
D47E |
probably damaging |
Het |
Haus3 |
A |
T |
5: 34,325,078 (GRCm39) |
F194I |
probably damaging |
Het |
Hivep3 |
C |
T |
4: 119,951,737 (GRCm39) |
R18W |
probably damaging |
Het |
Hnf1b |
A |
G |
11: 83,779,920 (GRCm39) |
T392A |
probably damaging |
Het |
Hsd17b1 |
C |
A |
11: 100,970,981 (GRCm39) |
C312* |
probably null |
Het |
Ighg2b |
T |
C |
12: 113,270,699 (GRCm39) |
T144A |
unknown |
Het |
Iqub |
T |
A |
6: 24,449,744 (GRCm39) |
N707I |
probably damaging |
Het |
Irag2 |
G |
T |
6: 145,090,702 (GRCm39) |
E61* |
probably null |
Het |
Jhy |
T |
C |
9: 40,828,887 (GRCm39) |
R340G |
probably damaging |
Het |
Klra3 |
C |
G |
6: 130,307,216 (GRCm39) |
V144L |
probably benign |
Het |
Lamp5 |
C |
G |
2: 135,901,483 (GRCm39) |
N102K |
possibly damaging |
Het |
Lrrc4 |
A |
G |
6: 28,830,905 (GRCm39) |
F237L |
possibly damaging |
Het |
Lyst |
T |
A |
13: 13,856,070 (GRCm39) |
C2464S |
probably benign |
Het |
Maml1 |
T |
C |
11: 50,157,509 (GRCm39) |
E222G |
probably damaging |
Het |
Med15 |
C |
T |
16: 17,489,447 (GRCm39) |
|
probably benign |
Het |
Naalad2 |
T |
C |
9: 18,296,444 (GRCm39) |
I69V |
probably null |
Het |
Neb |
T |
C |
2: 52,181,220 (GRCm39) |
K1129R |
probably damaging |
Het |
Nsun6 |
A |
T |
2: 15,041,113 (GRCm39) |
N159K |
probably benign |
Het |
Nup153 |
A |
T |
13: 46,840,541 (GRCm39) |
N1022K |
probably benign |
Het |
Or1e29 |
T |
C |
11: 73,667,296 (GRCm39) |
N286D |
probably damaging |
Het |
Or5g9 |
A |
G |
2: 85,552,675 (GRCm39) |
K309E |
probably benign |
Het |
Or5w15 |
C |
T |
2: 87,567,753 (GRCm39) |
R305K |
probably benign |
Het |
Otof |
T |
A |
5: 30,528,141 (GRCm39) |
K1901* |
probably null |
Het |
Pde1c |
A |
T |
6: 56,158,685 (GRCm39) |
Y136N |
probably damaging |
Het |
Phc1 |
G |
T |
6: 122,302,733 (GRCm39) |
N263K |
probably damaging |
Het |
Plxna1 |
A |
T |
6: 89,296,430 (GRCm39) |
D1871E |
probably damaging |
Het |
Prdm6 |
T |
A |
18: 53,669,751 (GRCm39) |
M123K |
possibly damaging |
Het |
Ranbp17 |
T |
C |
11: 33,425,066 (GRCm39) |
D430G |
probably damaging |
Het |
Rsl24d1 |
C |
A |
9: 73,022,279 (GRCm39) |
T287K |
probably damaging |
Het |
Scn1a |
G |
A |
2: 66,168,304 (GRCm39) |
R101W |
probably damaging |
Het |
Scn8a |
A |
G |
15: 100,937,977 (GRCm39) |
D1741G |
probably damaging |
Het |
Serpinb1c |
T |
C |
13: 33,080,924 (GRCm39) |
Q53R |
probably benign |
Het |
Serpinf2 |
C |
T |
11: 75,323,269 (GRCm39) |
R479H |
probably damaging |
Het |
Sis |
T |
A |
3: 72,856,860 (GRCm39) |
D448V |
probably damaging |
Het |
Slc27a6 |
T |
A |
18: 58,712,947 (GRCm39) |
D256E |
probably benign |
Het |
Slc30a8 |
A |
G |
15: 52,194,970 (GRCm39) |
Y243C |
possibly damaging |
Het |
Slc35f5 |
T |
C |
1: 125,490,347 (GRCm39) |
V103A |
probably damaging |
Het |
Slc44a2 |
T |
C |
9: 21,232,149 (GRCm39) |
|
probably null |
Het |
Slc7a9 |
T |
C |
7: 35,159,274 (GRCm39) |
L327P |
probably damaging |
Het |
Stat4 |
A |
G |
1: 52,142,133 (GRCm39) |
Y660C |
probably damaging |
Het |
Terb1 |
T |
C |
8: 105,199,388 (GRCm39) |
T519A |
possibly damaging |
Het |
Tonsl |
A |
T |
15: 76,513,500 (GRCm39) |
S1245T |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,619,162 (GRCm39) |
S16072R |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,739,590 (GRCm39) |
Y3650N |
probably benign |
Het |
Uso1 |
T |
C |
5: 92,314,444 (GRCm39) |
F117S |
probably damaging |
Het |
Vmn1r211 |
T |
C |
13: 23,035,779 (GRCm39) |
H296R |
probably benign |
Het |
Vmn2r67 |
G |
A |
7: 84,802,023 (GRCm39) |
P93S |
probably damaging |
Het |
Xirp2 |
A |
T |
2: 67,346,569 (GRCm39) |
I2937F |
possibly damaging |
Het |
Zc2hc1c |
C |
A |
12: 85,336,446 (GRCm39) |
|
probably null |
Het |
Zfp12 |
T |
C |
5: 143,230,219 (GRCm39) |
V182A |
probably benign |
Het |
Zfp473 |
G |
T |
7: 44,382,218 (GRCm39) |
A705D |
possibly damaging |
Het |
Zfp937 |
G |
T |
2: 150,081,136 (GRCm39) |
G389C |
probably damaging |
Het |
Zfp990 |
A |
G |
4: 145,264,748 (GRCm39) |
D582G |
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 |
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'- TGACCTTTCATGTACCTGGC -3'
(R):5'- GAGGAGCTGTTAATACCTTTTAGGG -3'
Sequencing Primer
(F):5'- TGGCATATTAGATCCAGAGTAGC -3'
(R):5'- AATACCTTTTAGGGTGGCCC -3'
|
Posted On |
2018-07-24 |