Incidental Mutation 'R6151:Eprs'
| ID |
489222 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eprs
|
| Ensembl Gene |
ENSMUSG00000026615 |
| Gene Name |
glutamyl-prolyl-tRNA synthetase |
| Synonyms |
2410081F06Rik, 3010002K18Rik, Qprs |
| MMRRC Submission |
044298-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6151 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
185363044-185428360 bp(+) (GRCm38) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 185407754 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045841
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046514]
|
| AlphaFold |
Q8CGC7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000046514
|
| SMART Domains |
Protein: ENSMUSP00000045841
Gene: ENSMUSG00000026615
| 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 |
noncoding transcript
Transcript: ENSMUST00000192049
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192284
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| 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: 99 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410141K09Rik |
A |
T |
13: 66,431,681 |
C248S |
probably damaging |
Het |
| 3110009E18Rik |
A |
G |
1: 120,171,486 |
|
probably null |
Het |
| 4930550C14Rik |
G |
T |
9: 53,414,383 |
R73S |
probably damaging |
Het |
| Abca1 |
A |
G |
4: 53,085,261 |
V517A |
probably benign |
Het |
| Adck5 |
A |
T |
15: 76,594,687 |
K370N |
possibly damaging |
Het |
| Akap6 |
A |
C |
12: 53,025,792 |
D981A |
probably damaging |
Het |
| Apbb1 |
G |
A |
7: 105,574,252 |
R51* |
probably null |
Het |
| Arhgap23 |
A |
G |
11: 97,500,412 |
M1252V |
probably benign |
Het |
| Arhgef1 |
A |
G |
7: 24,917,942 |
T354A |
probably benign |
Het |
| Arid1a |
G |
T |
4: 133,684,976 |
Q1636K |
unknown |
Het |
| Asmt |
C |
T |
X: 170,676,467 |
A237V |
possibly damaging |
Het |
| Brat1 |
T |
A |
5: 140,705,961 |
C43S |
probably benign |
Het |
| Cd36 |
T |
C |
5: 17,795,595 |
Y370C |
probably damaging |
Het |
| Ceacam12 |
A |
T |
7: 18,069,105 |
L145F |
probably benign |
Het |
| Col24a1 |
C |
T |
3: 145,314,054 |
T62I |
probably damaging |
Het |
| Col6a3 |
G |
T |
1: 90,813,753 |
N652K |
possibly damaging |
Het |
| Dcbld1 |
T |
C |
10: 52,304,660 |
L140P |
probably damaging |
Het |
| Dhrs13 |
G |
A |
11: 78,036,982 |
C218Y |
probably damaging |
Het |
| Diaph1 |
T |
G |
18: 37,853,353 |
E1158A |
probably damaging |
Het |
| Emp2 |
A |
C |
16: 10,292,281 |
F20C |
probably damaging |
Het |
| Enpep |
T |
C |
3: 129,332,418 |
I22V |
possibly damaging |
Het |
| Epha2 |
A |
G |
4: 141,318,480 |
|
probably null |
Het |
| Etl4 |
T |
A |
2: 20,713,360 |
I304N |
probably damaging |
Het |
| Exoc3l2 |
C |
A |
7: 19,491,745 |
S89* |
probably null |
Het |
| F5 |
A |
T |
1: 164,181,635 |
I325F |
probably damaging |
Het |
| F5 |
G |
A |
1: 164,190,187 |
C611Y |
probably damaging |
Het |
| Fam133b |
A |
T |
5: 3,559,133 |
S116C |
probably null |
Het |
| Fam13b |
A |
T |
18: 34,494,277 |
D190E |
probably damaging |
Het |
| Fam169a |
T |
G |
13: 97,093,630 |
Y58D |
probably damaging |
Het |
| Far1 |
G |
A |
7: 113,561,396 |
R383H |
possibly damaging |
Het |
| Fnbp1l |
T |
C |
3: 122,570,930 |
K52R |
possibly damaging |
Het |
| Foxj3 |
C |
A |
4: 119,623,271 |
Q469K |
unknown |
Het |
| Frs3 |
A |
T |
17: 47,689,088 |
|
probably benign |
Het |
| Gdpd3 |
A |
G |
7: 126,775,502 |
S290G |
probably benign |
Het |
| Gm6768 |
T |
G |
12: 119,261,106 |
|
noncoding transcript |
Het |
| Gmip |
T |
A |
8: 69,817,085 |
L610Q |
probably damaging |
Het |
| Gprc5c |
T |
A |
11: 114,864,025 |
I176N |
probably damaging |
Het |
| Grm3 |
A |
G |
5: 9,511,556 |
F765L |
probably damaging |
Het |
| Hhat |
A |
T |
1: 192,759,757 |
L2Q |
probably damaging |
Het |
| Hrasls5 |
C |
T |
19: 7,619,291 |
P148S |
probably damaging |
Het |
| Hspbap1 |
T |
C |
16: 35,817,222 |
S214P |
probably damaging |
Het |
| Ighv1-62-3 |
C |
A |
12: 115,461,289 |
V21F |
probably damaging |
Het |
| Kcnj15 |
A |
T |
16: 95,295,668 |
K50* |
probably null |
Het |
| Kidins220 |
T |
C |
12: 25,056,909 |
S1454P |
possibly damaging |
Het |
| Kl |
T |
A |
5: 150,988,853 |
M689K |
possibly damaging |
Het |
| Klhl23 |
T |
G |
2: 69,824,854 |
L356R |
probably damaging |
Het |
| Kndc1 |
A |
T |
7: 139,921,213 |
D806V |
probably benign |
Het |
| Krt26 |
T |
C |
11: 99,337,489 |
E139G |
probably benign |
Het |
| Lefty1 |
T |
C |
1: 180,935,116 |
F3L |
unknown |
Het |
| Madd |
A |
C |
2: 91,165,457 |
Y853* |
probably null |
Het |
| Map1a |
T |
A |
2: 121,289,823 |
D63E |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,684,735 |
V815E |
probably damaging |
Het |
| Mettl3 |
A |
G |
14: 52,295,020 |
Y569H |
probably damaging |
Het |
| Mknk2 |
T |
C |
10: 80,669,025 |
|
probably null |
Het |
| Mpp3 |
C |
A |
11: 102,008,566 |
R376S |
probably benign |
Het |
| Nup160 |
T |
A |
2: 90,690,105 |
Y293* |
probably null |
Het |
| Nupl1 |
A |
T |
14: 60,244,616 |
F100I |
possibly damaging |
Het |
| Nxpe2 |
A |
C |
9: 48,326,191 |
L255V |
probably benign |
Het |
| Olfr1423 |
T |
C |
19: 12,036,736 |
E2G |
probably benign |
Het |
| Olfr167 |
A |
T |
16: 19,515,531 |
L35Q |
probably damaging |
Het |
| Olfr390 |
T |
A |
11: 73,787,695 |
Y252* |
probably null |
Het |
| Olfr479 |
A |
G |
7: 108,055,899 |
I306V |
probably benign |
Het |
| Padi3 |
A |
T |
4: 140,796,394 |
D248E |
probably damaging |
Het |
| Paxip1 |
G |
T |
5: 27,761,618 |
H637N |
probably damaging |
Het |
| Pde4b |
T |
A |
4: 102,601,551 |
M296K |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,575,606 |
H2089R |
probably benign |
Het |
| Prpf40a |
T |
C |
2: 53,157,915 |
M197V |
probably benign |
Het |
| Rhebl1 |
T |
C |
15: 98,878,279 |
I165V |
probably benign |
Het |
| Rock1 |
A |
T |
18: 10,106,426 |
V481E |
possibly damaging |
Het |
| Rtca |
T |
A |
3: 116,507,827 |
T24S |
probably benign |
Het |
| Serpina3c |
T |
A |
12: 104,152,068 |
I4F |
possibly damaging |
Het |
| Serpina3j |
C |
A |
12: 104,317,390 |
A249E |
possibly damaging |
Het |
| Slc38a9 |
A |
G |
13: 112,689,376 |
N116S |
probably damaging |
Het |
| Slco2b1 |
C |
T |
7: 99,690,563 |
V58I |
possibly damaging |
Het |
| Slfn8 |
T |
A |
11: 83,017,321 |
Y132F |
probably damaging |
Het |
| Smg6 |
T |
G |
11: 75,156,207 |
I1242S |
probably damaging |
Het |
| Tap2 |
G |
T |
17: 34,212,047 |
V374L |
probably benign |
Het |
| Tbc1d10b |
G |
A |
7: 127,207,996 |
T123M |
probably damaging |
Het |
| Tenm2 |
A |
C |
11: 36,008,783 |
V2516G |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 48,395,573 |
R12Q |
probably damaging |
Het |
| Tmem130 |
T |
A |
5: 144,737,851 |
M355L |
probably benign |
Het |
| Tns4 |
C |
T |
11: 99,075,550 |
S433N |
probably benign |
Het |
| Traip |
G |
T |
9: 107,970,619 |
|
probably null |
Het |
| Trmo |
G |
A |
4: 46,389,390 |
R2C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,944,160 |
I2134N |
probably damaging |
Het |
| Uba1y |
A |
G |
Y: 825,984 |
D380G |
probably benign |
Het |
| Ube2t |
T |
A |
1: 134,967,960 |
|
probably null |
Het |
| Ugdh |
A |
T |
5: 65,417,581 |
Y367* |
probably null |
Het |
| Usp45 |
A |
C |
4: 21,810,797 |
D331A |
probably damaging |
Het |
| Vmn1r84 |
G |
T |
7: 12,361,914 |
T284K |
possibly damaging |
Het |
| Vmn1r91 |
T |
A |
7: 20,101,435 |
F93Y |
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,801,670 |
Y255N |
probably benign |
Het |
| Vmn2r96 |
A |
T |
17: 18,583,959 |
Q490H |
probably benign |
Het |
| Vwa2 |
A |
G |
19: 56,903,465 |
|
probably null |
Het |
| Vwf |
A |
G |
6: 125,657,065 |
K169E |
unknown |
Het |
| Zc3h7b |
G |
C |
15: 81,778,710 |
|
probably null |
Het |
| Zfp458 |
T |
A |
13: 67,257,598 |
H259L |
possibly damaging |
Het |
| Zfp647 |
G |
A |
15: 76,912,085 |
P125L |
probably damaging |
Het |
| Zfp804b |
A |
G |
5: 6,769,910 |
V1051A |
probably benign |
Het |
|
| Other mutations in Eprs |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00528:Eprs
|
APN |
1 |
185,407,148 (GRCm38) |
missense |
probably benign |
0.11 |
|
IGL00532:Eprs
|
APN |
1 |
185,407,148 (GRCm38) |
missense |
probably benign |
0.11 |
|
IGL00543:Eprs
|
APN |
1 |
185,407,148 (GRCm38) |
missense |
probably benign |
0.11 |
|
IGL00553:Eprs
|
APN |
1 |
185,407,148 (GRCm38) |
missense |
probably benign |
0.11 |
|
IGL00574:Eprs
|
APN |
1 |
185,407,148 (GRCm38) |
missense |
probably benign |
0.11 |
|
IGL00583:Eprs
|
APN |
1 |
185,407,148 (GRCm38) |
missense |
probably benign |
0.11 |
|
IGL00946:Eprs
|
APN |
1 |
185,407,701 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01062:Eprs
|
APN |
1 |
185,379,615 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL01477:Eprs
|
APN |
1 |
185,411,375 (GRCm38) |
splice site |
probably benign |
|
|
IGL01608:Eprs
|
APN |
1 |
185,385,114 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01767:Eprs
|
APN |
1 |
185,384,915 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02136:Eprs
|
APN |
1 |
185,384,983 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02302:Eprs
|
APN |
1 |
185,387,124 (GRCm38) |
splice site |
probably benign |
|
|
IGL02528:Eprs
|
APN |
1 |
185,413,489 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02631:Eprs
|
APN |
1 |
185,427,898 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02989:Eprs
|
APN |
1 |
185,418,366 (GRCm38) |
missense |
probably benign |
0.31 |
|
IGL03004:Eprs
|
APN |
1 |
185,381,833 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0003:Eprs
|
UTSW |
1 |
185,414,391 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0003:Eprs
|
UTSW |
1 |
185,414,391 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0179:Eprs
|
UTSW |
1 |
185,413,547 (GRCm38) |
missense |
probably benign |
|
|
R0783:Eprs
|
UTSW |
1 |
185,398,458 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1319:Eprs
|
UTSW |
1 |
185,384,962 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1335:Eprs
|
UTSW |
1 |
185,387,089 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1514:Eprs
|
UTSW |
1 |
185,381,834 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1590:Eprs
|
UTSW |
1 |
185,401,510 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1688:Eprs
|
UTSW |
1 |
185,384,896 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1725:Eprs
|
UTSW |
1 |
185,406,992 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2182:Eprs
|
UTSW |
1 |
185,379,742 (GRCm38) |
splice site |
probably null |
|
|
R2228:Eprs
|
UTSW |
1 |
185,367,537 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2336:Eprs
|
UTSW |
1 |
185,411,374 (GRCm38) |
splice site |
probably benign |
|
|
R2338:Eprs
|
UTSW |
1 |
185,415,808 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2439:Eprs
|
UTSW |
1 |
185,379,742 (GRCm38) |
splice site |
probably null |
|
|
R2914:Eprs
|
UTSW |
1 |
185,379,742 (GRCm38) |
splice site |
probably null |
|
|
R3001:Eprs
|
UTSW |
1 |
185,424,391 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3002:Eprs
|
UTSW |
1 |
185,424,391 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3003:Eprs
|
UTSW |
1 |
185,424,391 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3547:Eprs
|
UTSW |
1 |
185,379,742 (GRCm38) |
splice site |
probably null |
|
|
R3775:Eprs
|
UTSW |
1 |
185,373,008 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3878:Eprs
|
UTSW |
1 |
185,415,953 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3902:Eprs
|
UTSW |
1 |
185,379,742 (GRCm38) |
splice site |
probably null |
|
|
R3913:Eprs
|
UTSW |
1 |
185,379,742 (GRCm38) |
splice site |
probably null |
|
|
R4579:Eprs
|
UTSW |
1 |
185,401,607 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4664:Eprs
|
UTSW |
1 |
185,373,076 (GRCm38) |
intron |
probably benign |
|
|
R4680:Eprs
|
UTSW |
1 |
185,386,278 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R4712:Eprs
|
UTSW |
1 |
185,428,108 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4749:Eprs
|
UTSW |
1 |
185,396,130 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4995:Eprs
|
UTSW |
1 |
185,410,139 (GRCm38) |
intron |
probably benign |
|
|
R5154:Eprs
|
UTSW |
1 |
185,413,465 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5640:Eprs
|
UTSW |
1 |
185,374,184 (GRCm38) |
missense |
probably benign |
0.34 |
|
R5662:Eprs
|
UTSW |
1 |
185,394,425 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R6037:Eprs
|
UTSW |
1 |
185,396,109 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6037:Eprs
|
UTSW |
1 |
185,396,109 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6387:Eprs
|
UTSW |
1 |
185,387,084 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6647:Eprs
|
UTSW |
1 |
185,414,424 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6701:Eprs
|
UTSW |
1 |
185,370,890 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6997:Eprs
|
UTSW |
1 |
185,396,163 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R7295:Eprs
|
UTSW |
1 |
185,418,210 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R7305:Eprs
|
UTSW |
1 |
185,379,701 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7729:Eprs
|
UTSW |
1 |
185,413,169 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7732:Eprs
|
UTSW |
1 |
185,372,939 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7733:Eprs
|
UTSW |
1 |
185,397,161 (GRCm38) |
missense |
probably benign |
|
|
R7826:Eprs
|
UTSW |
1 |
185,406,968 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7988:Eprs
|
UTSW |
1 |
185,418,348 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8071:Eprs
|
UTSW |
1 |
185,394,456 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R8157:Eprs
|
UTSW |
1 |
185,398,394 (GRCm38) |
missense |
probably benign |
0.21 |
|
R8209:Eprs
|
UTSW |
1 |
185,407,615 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R8370:Eprs
|
UTSW |
1 |
185,399,257 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8493:Eprs
|
UTSW |
1 |
185,407,174 (GRCm38) |
nonsense |
probably null |
|
|
R8556:Eprs
|
UTSW |
1 |
185,420,288 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8877:Eprs
|
UTSW |
1 |
185,415,874 (GRCm38) |
nonsense |
probably null |
|
|
R9096:Eprs
|
UTSW |
1 |
185,407,106 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9097:Eprs
|
UTSW |
1 |
185,407,106 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9112:Eprs
|
UTSW |
1 |
185,397,076 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9189:Eprs
|
UTSW |
1 |
185,374,137 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R9489:Eprs
|
UTSW |
1 |
185,407,699 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9489:Eprs
|
UTSW |
1 |
185,407,698 (GRCm38) |
missense |
probably benign |
0.20 |
|
R9518:Eprs
|
UTSW |
1 |
185,379,566 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9586:Eprs
|
UTSW |
1 |
185,407,549 (GRCm38) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGAAGGCACAGTACAAGTC -3'
(R):5'- TCTAAGTCTAAGGTGAGCAGGTG -3'
Sequencing Primer
(F):5'- ATCGAGTATAAGCCTGTGTCTGCTAC -3'
(R):5'- GTGATGTGCTGCCTATTTTTAACATC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation