Incidental Mutation 'R7358:Epg5'
ID |
571148 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epg5
|
Ensembl Gene |
ENSMUSG00000039840 |
Gene Name |
ectopic P-granules 5 autophagy tethering factor |
Synonyms |
5430411K18Rik |
MMRRC Submission |
045444-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.935)
|
Stock # |
R7358 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
77981680-78078228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 78002252 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 557
(D557V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038681
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044622]
|
AlphaFold |
Q80TA9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044622
AA Change: D557V
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000038681 Gene: ENSMUSG00000039840 AA Change: D557V
Domain | Start | End | E-Value | Type |
low complexity region
|
299 |
309 |
N/A |
INTRINSIC |
low complexity region
|
395 |
406 |
N/A |
INTRINSIC |
low complexity region
|
1074 |
1085 |
N/A |
INTRINSIC |
low complexity region
|
1499 |
1516 |
N/A |
INTRINSIC |
coiled coil region
|
1600 |
1626 |
N/A |
INTRINSIC |
low complexity region
|
2132 |
2145 |
N/A |
INTRINSIC |
low complexity region
|
2416 |
2427 |
N/A |
INTRINSIC |
low complexity region
|
2454 |
2469 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large coiled coil domain-containing protein that functions in autophagy during starvation conditions. Mutations in this gene cause Vici syndrome. [provided by RefSeq, Aug 2015] PHENOTYPE: Mice homozygous for a knock-out allele exhibit dysfunctional autophagy that leads to aggregate inclusions in motor neurons, motor neuron degeneration, denervation, muscle degeneration and premature death. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 90 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
A |
17: 24,510,529 (GRCm39) |
Q983L |
probably benign |
Het |
Agtr1a |
A |
T |
13: 30,564,962 (GRCm39) |
D9V |
probably benign |
Het |
Ahcyl |
T |
C |
16: 45,974,201 (GRCm39) |
E392G |
probably damaging |
Het |
Ankrd13c |
T |
A |
3: 157,697,374 (GRCm39) |
Y326* |
probably null |
Het |
Ano2 |
A |
G |
6: 125,687,696 (GRCm39) |
D67G |
probably benign |
Het |
Arhgef5 |
G |
A |
6: 43,256,507 (GRCm39) |
R1205H |
probably damaging |
Het |
Ascc3 |
T |
A |
10: 50,590,448 (GRCm39) |
Y1055* |
probably null |
Het |
Atad5 |
C |
T |
11: 80,023,862 (GRCm39) |
A1658V |
probably benign |
Het |
Atp6ap1l |
T |
C |
13: 91,031,926 (GRCm39) |
D252G |
probably damaging |
Het |
Bdkrb2 |
T |
C |
12: 105,558,800 (GRCm39) |
V347A |
possibly damaging |
Het |
Ccdc187 |
A |
T |
2: 26,146,007 (GRCm39) |
L1194Q |
probably damaging |
Het |
Chd9 |
A |
C |
8: 91,710,115 (GRCm39) |
D770A |
unknown |
Het |
Chd9 |
A |
G |
8: 91,760,846 (GRCm39) |
D2197G |
unknown |
Het |
Clip2 |
C |
A |
5: 134,531,484 (GRCm39) |
E774* |
probably null |
Het |
Clspn |
A |
G |
4: 126,459,993 (GRCm39) |
T407A |
probably benign |
Het |
Col24a1 |
T |
A |
3: 144,998,926 (GRCm39) |
|
probably null |
Het |
Cradd |
T |
A |
10: 95,158,637 (GRCm39) |
T37S |
probably damaging |
Het |
Cspg4b |
A |
G |
13: 113,456,501 (GRCm39) |
D849G |
|
Het |
Ctbp2 |
A |
G |
7: 132,600,610 (GRCm39) |
F70S |
probably damaging |
Het |
D3Ertd751e |
A |
T |
3: 41,701,000 (GRCm39) |
E6D |
probably damaging |
Het |
Dst |
T |
A |
1: 34,230,754 (GRCm39) |
F2782L |
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,159,479 (GRCm39) |
|
probably null |
Het |
Eif2s1 |
G |
T |
12: 78,927,969 (GRCm39) |
G215V |
probably damaging |
Het |
Eya4 |
C |
T |
10: 22,999,749 (GRCm39) |
|
probably null |
Het |
Fpr1 |
C |
A |
17: 18,097,242 (GRCm39) |
R249L |
probably damaging |
Het |
Fry |
A |
G |
5: 150,339,788 (GRCm39) |
T1520A |
probably benign |
Het |
Gapvd1 |
C |
T |
2: 34,580,473 (GRCm39) |
|
probably null |
Het |
Gemin4 |
A |
C |
11: 76,104,278 (GRCm39) |
L161* |
probably null |
Het |
Gid8 |
A |
T |
2: 180,359,779 (GRCm39) |
K221I |
probably benign |
Het |
Gm21028 |
A |
C |
7: 42,227,913 (GRCm39) |
C34G |
probably damaging |
Het |
Greb1 |
A |
G |
12: 16,774,882 (GRCm39) |
S172P |
probably damaging |
Het |
Herc2 |
A |
G |
7: 55,832,423 (GRCm39) |
I3040V |
possibly damaging |
Het |
Hmcn2 |
T |
A |
2: 31,306,824 (GRCm39) |
V3190E |
probably damaging |
Het |
Hrnr |
G |
T |
3: 93,230,448 (GRCm39) |
G229* |
probably null |
Het |
Igfn1 |
A |
T |
1: 135,891,738 (GRCm39) |
V2259D |
probably damaging |
Het |
Ism2 |
A |
G |
12: 87,326,814 (GRCm39) |
F375S |
probably damaging |
Het |
Kcnk4 |
T |
A |
19: 6,903,478 (GRCm39) |
D357V |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,901,040 (GRCm39) |
R914G |
possibly damaging |
Het |
Mars2 |
T |
C |
1: 55,276,729 (GRCm39) |
S111P |
probably damaging |
Het |
Mogat2 |
G |
A |
7: 98,881,673 (GRCm39) |
P88S |
possibly damaging |
Het |
Msh2 |
T |
A |
17: 88,024,957 (GRCm39) |
S612T |
possibly damaging |
Het |
Nvl |
A |
G |
1: 180,962,601 (GRCm39) |
L123P |
probably damaging |
Het |
Or1j20 |
T |
C |
2: 36,759,890 (GRCm39) |
V104A |
probably benign |
Het |
Or2d3c |
A |
T |
7: 106,526,111 (GRCm39) |
L185Q |
probably damaging |
Het |
Or51v15-ps1 |
A |
G |
7: 103,278,390 (GRCm39) |
L259P |
unknown |
Het |
Or5m11b |
T |
A |
2: 85,805,780 (GRCm39) |
S64R |
possibly damaging |
Het |
Or6c202 |
T |
A |
10: 128,995,939 (GRCm39) |
I305F |
probably benign |
Het |
Or7e174 |
A |
T |
9: 20,012,169 (GRCm39) |
Y38F |
probably damaging |
Het |
P2rx7 |
A |
T |
5: 122,804,205 (GRCm39) |
|
probably null |
Het |
Pard3 |
A |
T |
8: 128,319,573 (GRCm39) |
I1149L |
probably damaging |
Het |
Pcdha8 |
T |
A |
18: 37,125,830 (GRCm39) |
I104N |
probably damaging |
Het |
Pecr |
G |
A |
1: 72,306,624 (GRCm39) |
T219I |
probably benign |
Het |
Pgap2 |
A |
T |
7: 101,859,774 (GRCm39) |
|
probably benign |
Het |
Phf7 |
T |
C |
14: 30,963,745 (GRCm39) |
R76G |
probably benign |
Het |
Pigu |
T |
C |
2: 155,141,090 (GRCm39) |
T268A |
probably damaging |
Het |
Piwil4 |
T |
C |
9: 14,641,289 (GRCm39) |
T231A |
possibly damaging |
Het |
Pkd1l1 |
T |
G |
11: 8,895,202 (GRCm39) |
E636A |
|
Het |
Plscr3 |
T |
C |
11: 69,738,316 (GRCm39) |
S55P |
unknown |
Het |
Pnlip |
T |
A |
19: 58,664,976 (GRCm39) |
I268N |
probably damaging |
Het |
Podxl |
A |
T |
6: 31,501,929 (GRCm39) |
H343Q |
probably benign |
Het |
Prkcd |
T |
C |
14: 30,327,793 (GRCm39) |
T213A |
probably benign |
Het |
Prss22 |
T |
A |
17: 24,215,419 (GRCm39) |
Q119L |
probably benign |
Het |
Psme3ip1 |
T |
C |
8: 95,302,327 (GRCm39) |
N235D |
possibly damaging |
Het |
Ptprcap |
A |
G |
19: 4,206,238 (GRCm39) |
E107G |
possibly damaging |
Het |
Ptprg |
A |
G |
14: 12,154,198 (GRCm38) |
T640A |
possibly damaging |
Het |
Ptprh |
A |
T |
7: 4,554,006 (GRCm39) |
|
probably null |
Het |
Rasa4 |
A |
G |
5: 136,124,448 (GRCm39) |
T166A |
probably benign |
Het |
Sbf2 |
T |
C |
7: 109,998,555 (GRCm39) |
E626G |
possibly damaging |
Het |
Scn2a |
T |
A |
2: 65,512,850 (GRCm39) |
Y203* |
probably null |
Het |
Serpinb1a |
G |
C |
13: 33,026,981 (GRCm39) |
H320Q |
probably damaging |
Het |
Shisa7 |
G |
A |
7: 4,832,920 (GRCm39) |
T464I |
probably benign |
Het |
Slc47a2 |
G |
A |
11: 61,199,699 (GRCm39) |
A399V |
possibly damaging |
Het |
Snrnp200 |
A |
G |
2: 127,063,746 (GRCm39) |
T642A |
probably benign |
Het |
Spag16 |
A |
G |
1: 69,883,526 (GRCm39) |
H85R |
probably benign |
Het |
Spata31h1 |
A |
G |
10: 82,127,847 (GRCm39) |
L1721S |
possibly damaging |
Het |
Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
Stag3 |
C |
A |
5: 138,299,770 (GRCm39) |
L894M |
probably damaging |
Het |
Sun2 |
A |
T |
15: 79,618,313 (GRCm39) |
F284Y |
probably benign |
Het |
Tpx2 |
T |
A |
2: 152,718,550 (GRCm39) |
N184K |
probably benign |
Het |
Trpa1 |
A |
T |
1: 14,968,334 (GRCm39) |
N477K |
probably damaging |
Het |
Ttbk2 |
C |
T |
2: 120,620,791 (GRCm39) |
R157H |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,537,649 (GRCm39) |
E34760K |
probably benign |
Het |
Tysnd1 |
T |
C |
10: 61,532,427 (GRCm39) |
S360P |
probably damaging |
Het |
Uqcc5 |
A |
G |
14: 30,846,560 (GRCm39) |
V53A |
probably damaging |
Het |
Usp34 |
T |
A |
11: 23,311,683 (GRCm39) |
L511I |
probably damaging |
Het |
Vmn2r71 |
A |
T |
7: 85,273,468 (GRCm39) |
T761S |
possibly damaging |
Het |
Zdhhc18 |
G |
T |
4: 133,360,482 (GRCm39) |
C73* |
probably null |
Het |
Zfp975 |
A |
T |
7: 42,312,215 (GRCm39) |
C133S |
probably damaging |
Het |
Zfy1 |
T |
C |
Y: 735,141 (GRCm39) |
E214G |
unknown |
Het |
Zmym5 |
T |
A |
14: 57,031,597 (GRCm39) |
K504* |
probably null |
Het |
|
Other mutations in Epg5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01680:Epg5
|
APN |
18 |
78,055,956 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01778:Epg5
|
APN |
18 |
78,062,489 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01936:Epg5
|
APN |
18 |
78,028,316 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02189:Epg5
|
APN |
18 |
78,056,085 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02323:Epg5
|
APN |
18 |
78,056,047 (GRCm39) |
nonsense |
probably null |
|
IGL02567:Epg5
|
APN |
18 |
78,076,288 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02805:Epg5
|
APN |
18 |
78,073,406 (GRCm39) |
splice site |
probably benign |
|
IGL03282:Epg5
|
APN |
18 |
78,029,641 (GRCm39) |
missense |
probably benign |
0.25 |
stitch
|
UTSW |
18 |
77,991,514 (GRCm39) |
nonsense |
probably null |
|
R0011:Epg5
|
UTSW |
18 |
77,991,698 (GRCm39) |
missense |
probably benign |
|
R0172:Epg5
|
UTSW |
18 |
78,070,574 (GRCm39) |
missense |
probably benign |
0.00 |
R0335:Epg5
|
UTSW |
18 |
78,029,687 (GRCm39) |
missense |
probably benign |
0.25 |
R0380:Epg5
|
UTSW |
18 |
78,004,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R0441:Epg5
|
UTSW |
18 |
78,066,486 (GRCm39) |
splice site |
probably benign |
|
R0443:Epg5
|
UTSW |
18 |
77,999,118 (GRCm39) |
splice site |
probably benign |
|
R0445:Epg5
|
UTSW |
18 |
78,057,399 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0448:Epg5
|
UTSW |
18 |
78,066,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R0892:Epg5
|
UTSW |
18 |
78,011,843 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1081:Epg5
|
UTSW |
18 |
78,002,748 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1183:Epg5
|
UTSW |
18 |
78,003,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R1374:Epg5
|
UTSW |
18 |
78,024,541 (GRCm39) |
missense |
probably benign |
|
R1428:Epg5
|
UTSW |
18 |
78,005,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R1727:Epg5
|
UTSW |
18 |
78,059,030 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1780:Epg5
|
UTSW |
18 |
78,067,205 (GRCm39) |
missense |
probably damaging |
0.99 |
R1801:Epg5
|
UTSW |
18 |
78,026,705 (GRCm39) |
missense |
possibly damaging |
0.63 |
R1864:Epg5
|
UTSW |
18 |
78,018,246 (GRCm39) |
missense |
probably damaging |
0.99 |
R1908:Epg5
|
UTSW |
18 |
78,002,247 (GRCm39) |
missense |
probably benign |
0.26 |
R1909:Epg5
|
UTSW |
18 |
78,002,247 (GRCm39) |
missense |
probably benign |
0.26 |
R1916:Epg5
|
UTSW |
18 |
78,008,236 (GRCm39) |
missense |
probably benign |
0.00 |
R1986:Epg5
|
UTSW |
18 |
78,025,521 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2048:Epg5
|
UTSW |
18 |
78,067,202 (GRCm39) |
missense |
probably damaging |
0.98 |
R2080:Epg5
|
UTSW |
18 |
77,991,960 (GRCm39) |
missense |
probably benign |
0.01 |
R2106:Epg5
|
UTSW |
18 |
78,034,578 (GRCm39) |
nonsense |
probably null |
|
R2144:Epg5
|
UTSW |
18 |
77,997,412 (GRCm39) |
missense |
possibly damaging |
0.78 |
R2151:Epg5
|
UTSW |
18 |
78,070,517 (GRCm39) |
missense |
probably benign |
|
R2217:Epg5
|
UTSW |
18 |
77,992,287 (GRCm39) |
missense |
probably benign |
|
R2424:Epg5
|
UTSW |
18 |
78,011,828 (GRCm39) |
missense |
probably benign |
0.05 |
R2909:Epg5
|
UTSW |
18 |
78,026,691 (GRCm39) |
missense |
probably damaging |
1.00 |
R3725:Epg5
|
UTSW |
18 |
78,060,894 (GRCm39) |
missense |
probably benign |
0.00 |
R3899:Epg5
|
UTSW |
18 |
78,000,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R4019:Epg5
|
UTSW |
18 |
78,073,665 (GRCm39) |
missense |
probably damaging |
0.98 |
R4260:Epg5
|
UTSW |
18 |
78,058,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R4260:Epg5
|
UTSW |
18 |
78,002,336 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4448:Epg5
|
UTSW |
18 |
78,005,676 (GRCm39) |
missense |
probably damaging |
1.00 |
R4475:Epg5
|
UTSW |
18 |
77,991,723 (GRCm39) |
missense |
probably benign |
|
R4612:Epg5
|
UTSW |
18 |
78,025,629 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4666:Epg5
|
UTSW |
18 |
78,056,079 (GRCm39) |
missense |
probably benign |
0.45 |
R4767:Epg5
|
UTSW |
18 |
78,066,498 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4779:Epg5
|
UTSW |
18 |
78,034,580 (GRCm39) |
missense |
probably benign |
0.01 |
R4791:Epg5
|
UTSW |
18 |
77,992,211 (GRCm39) |
nonsense |
probably null |
|
R4797:Epg5
|
UTSW |
18 |
78,073,614 (GRCm39) |
missense |
probably benign |
0.00 |
R4812:Epg5
|
UTSW |
18 |
78,022,399 (GRCm39) |
missense |
probably benign |
0.01 |
R4899:Epg5
|
UTSW |
18 |
78,028,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R5000:Epg5
|
UTSW |
18 |
77,997,376 (GRCm39) |
missense |
probably benign |
|
R5031:Epg5
|
UTSW |
18 |
78,072,163 (GRCm39) |
missense |
probably benign |
0.00 |
R5050:Epg5
|
UTSW |
18 |
78,019,156 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5114:Epg5
|
UTSW |
18 |
78,038,828 (GRCm39) |
missense |
probably benign |
|
R5144:Epg5
|
UTSW |
18 |
78,058,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R5209:Epg5
|
UTSW |
18 |
77,994,497 (GRCm39) |
missense |
probably damaging |
1.00 |
R5213:Epg5
|
UTSW |
18 |
78,058,049 (GRCm39) |
missense |
probably benign |
0.01 |
R5270:Epg5
|
UTSW |
18 |
78,026,778 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5324:Epg5
|
UTSW |
18 |
78,005,660 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5443:Epg5
|
UTSW |
18 |
78,070,712 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5503:Epg5
|
UTSW |
18 |
77,994,422 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5593:Epg5
|
UTSW |
18 |
78,000,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R5718:Epg5
|
UTSW |
18 |
78,029,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R5773:Epg5
|
UTSW |
18 |
78,004,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R5828:Epg5
|
UTSW |
18 |
78,064,066 (GRCm39) |
missense |
probably damaging |
0.99 |
R5847:Epg5
|
UTSW |
18 |
78,073,270 (GRCm39) |
missense |
probably benign |
0.06 |
R5858:Epg5
|
UTSW |
18 |
77,991,514 (GRCm39) |
nonsense |
probably null |
|
R5914:Epg5
|
UTSW |
18 |
78,002,847 (GRCm39) |
critical splice donor site |
probably null |
|
R6124:Epg5
|
UTSW |
18 |
78,073,260 (GRCm39) |
missense |
probably benign |
|
R6228:Epg5
|
UTSW |
18 |
77,991,677 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6252:Epg5
|
UTSW |
18 |
78,028,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R6269:Epg5
|
UTSW |
18 |
77,991,585 (GRCm39) |
missense |
probably benign |
|
R6312:Epg5
|
UTSW |
18 |
78,022,426 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6320:Epg5
|
UTSW |
18 |
78,005,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R6328:Epg5
|
UTSW |
18 |
78,072,179 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6430:Epg5
|
UTSW |
18 |
78,019,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R6458:Epg5
|
UTSW |
18 |
77,991,469 (GRCm39) |
missense |
probably benign |
0.03 |
R6852:Epg5
|
UTSW |
18 |
78,056,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R6915:Epg5
|
UTSW |
18 |
78,022,380 (GRCm39) |
missense |
probably benign |
0.00 |
R6930:Epg5
|
UTSW |
18 |
78,057,378 (GRCm39) |
missense |
probably damaging |
0.99 |
R6932:Epg5
|
UTSW |
18 |
77,991,824 (GRCm39) |
missense |
probably benign |
0.00 |
R7127:Epg5
|
UTSW |
18 |
78,072,140 (GRCm39) |
missense |
probably damaging |
1.00 |
R7207:Epg5
|
UTSW |
18 |
77,992,170 (GRCm39) |
missense |
probably damaging |
1.00 |
R7225:Epg5
|
UTSW |
18 |
78,055,917 (GRCm39) |
missense |
probably benign |
0.45 |
R7414:Epg5
|
UTSW |
18 |
78,026,747 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7437:Epg5
|
UTSW |
18 |
78,066,493 (GRCm39) |
missense |
probably benign |
0.01 |
R7535:Epg5
|
UTSW |
18 |
78,076,141 (GRCm39) |
missense |
probably benign |
0.18 |
R7586:Epg5
|
UTSW |
18 |
78,073,275 (GRCm39) |
missense |
probably benign |
|
R7651:Epg5
|
UTSW |
18 |
78,024,615 (GRCm39) |
nonsense |
probably null |
|
R7715:Epg5
|
UTSW |
18 |
78,011,801 (GRCm39) |
missense |
probably damaging |
1.00 |
R7753:Epg5
|
UTSW |
18 |
77,991,560 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7981:Epg5
|
UTSW |
18 |
78,052,929 (GRCm39) |
critical splice donor site |
probably null |
|
R8114:Epg5
|
UTSW |
18 |
78,073,365 (GRCm39) |
missense |
probably benign |
0.41 |
R8124:Epg5
|
UTSW |
18 |
78,008,211 (GRCm39) |
missense |
probably benign |
0.05 |
R8307:Epg5
|
UTSW |
18 |
78,065,894 (GRCm39) |
missense |
probably damaging |
1.00 |
R8458:Epg5
|
UTSW |
18 |
77,991,946 (GRCm39) |
missense |
probably benign |
0.00 |
R8751:Epg5
|
UTSW |
18 |
78,008,225 (GRCm39) |
missense |
probably benign |
0.28 |
R8751:Epg5
|
UTSW |
18 |
78,008,224 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8751:Epg5
|
UTSW |
18 |
78,008,223 (GRCm39) |
missense |
probably benign |
0.07 |
R8888:Epg5
|
UTSW |
18 |
78,056,086 (GRCm39) |
missense |
possibly damaging |
0.76 |
R8971:Epg5
|
UTSW |
18 |
78,022,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R9045:Epg5
|
UTSW |
18 |
77,992,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R9291:Epg5
|
UTSW |
18 |
78,056,065 (GRCm39) |
nonsense |
probably null |
|
R9327:Epg5
|
UTSW |
18 |
77,991,435 (GRCm39) |
missense |
probably benign |
0.00 |
R9365:Epg5
|
UTSW |
18 |
77,997,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R9742:Epg5
|
UTSW |
18 |
78,024,170 (GRCm39) |
missense |
probably damaging |
1.00 |
X0023:Epg5
|
UTSW |
18 |
78,011,872 (GRCm39) |
missense |
probably damaging |
0.99 |
X0060:Epg5
|
UTSW |
18 |
78,005,700 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1088:Epg5
|
UTSW |
18 |
78,002,354 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAACTATGGATATGAACCAGGTAC -3'
(R):5'- TTTTGCACGGGTGGACACAG -3'
Sequencing Primer
(F):5'- ATACTTGCATTTCAGAAGACTTCC -3'
(R):5'- TGGACACAGGGCATGCTG -3'
|
Posted On |
2019-09-13 |