Incidental Mutation 'R1909:Epg5'
| ID |
210224 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epg5
|
| Ensembl Gene |
ENSMUSG00000039840 |
| Gene Name |
ectopic P-granules 5 autophagy tethering factor |
| Synonyms |
5430411K18Rik |
| MMRRC Submission |
039928-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.935)
|
| Stock # |
R1909 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
77981680-78078228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78002247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 555
(D555E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044622]
|
| AlphaFold |
Q80TA9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044622
AA Change: D555E
PolyPhen 2
Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000038681
Gene: ENSMUSG00000039840
AA Change: D555E
| 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: 97.4%
- 3x: 96.8%
- 10x: 95.4%
- 20x: 93.1%
|
| 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: 112 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
A |
C |
11: 101,301,057 (GRCm39) |
|
probably null |
Het |
| Abcc5 |
A |
G |
16: 20,195,259 (GRCm39) |
|
probably null |
Het |
| Abcc6 |
T |
C |
7: 45,669,558 (GRCm39) |
|
probably null |
Het |
| Adam15 |
C |
A |
3: 89,252,637 (GRCm39) |
M317I |
probably benign |
Het |
| Ago3 |
T |
C |
4: 126,240,530 (GRCm39) |
T111A |
probably damaging |
Het |
| Amz1 |
G |
T |
5: 140,738,216 (GRCm39) |
S492I |
probably benign |
Het |
| Arid1a |
T |
C |
4: 133,421,072 (GRCm39) |
N911S |
unknown |
Het |
| Ascl2 |
C |
A |
7: 142,521,900 (GRCm39) |
A115S |
probably damaging |
Het |
| Ash1l |
T |
C |
3: 88,891,835 (GRCm39) |
V1238A |
probably benign |
Het |
| Asxl2 |
G |
T |
12: 3,524,577 (GRCm39) |
V202F |
probably damaging |
Het |
| Atp10a |
A |
T |
7: 58,478,460 (GRCm39) |
Q1501L |
probably benign |
Het |
| Avpr1a |
A |
T |
10: 122,288,113 (GRCm39) |
I374L |
probably benign |
Het |
| Bmal2 |
A |
T |
6: 146,712,308 (GRCm39) |
E111V |
probably benign |
Het |
| Bmx |
T |
C |
X: 163,022,411 (GRCm39) |
H157R |
probably benign |
Het |
| Camk4 |
T |
A |
18: 33,291,869 (GRCm39) |
|
probably null |
Het |
| Ccdc103 |
G |
A |
11: 102,773,392 (GRCm39) |
D5N |
probably benign |
Het |
| Ccdc186 |
A |
T |
19: 56,781,793 (GRCm39) |
N70K |
probably damaging |
Het |
| Cebpz |
A |
T |
17: 79,242,336 (GRCm39) |
Y439* |
probably null |
Het |
| Cfap206 |
A |
C |
4: 34,722,714 (GRCm39) |
S122R |
probably benign |
Het |
| Cnst |
T |
C |
1: 179,450,356 (GRCm39) |
S607P |
probably damaging |
Het |
| Col8a2 |
C |
A |
4: 126,205,926 (GRCm39) |
D645E |
possibly damaging |
Het |
| Cpsf4l |
A |
T |
11: 113,594,204 (GRCm39) |
|
probably null |
Het |
| Crim1 |
C |
T |
17: 78,620,556 (GRCm39) |
T332I |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 15,956,116 (GRCm39) |
Y3364N |
probably damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,771,402 (GRCm39) |
S998T |
probably benign |
Het |
| Dab2ip |
C |
G |
2: 35,608,827 (GRCm39) |
A587G |
probably damaging |
Het |
| Dach1 |
C |
T |
14: 98,138,829 (GRCm39) |
G486D |
probably damaging |
Het |
| Ddx24 |
T |
C |
12: 103,376,241 (GRCm39) |
I752V |
probably damaging |
Het |
| Dennd2b |
G |
A |
7: 109,124,533 (GRCm39) |
Q686* |
probably null |
Het |
| Dhx33 |
A |
G |
11: 70,879,933 (GRCm39) |
V359A |
probably benign |
Het |
| Dip2c |
A |
T |
13: 9,583,386 (GRCm39) |
T123S |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,629,063 (GRCm39) |
E4207K |
probably damaging |
Het |
| Eef1b2 |
G |
T |
1: 63,216,431 (GRCm39) |
D21Y |
probably damaging |
Het |
| Eif3b |
T |
C |
5: 140,418,692 (GRCm39) |
S462P |
probably damaging |
Het |
| Elmod2 |
G |
C |
8: 84,042,998 (GRCm39) |
R277G |
probably benign |
Het |
| Ercc8 |
A |
T |
13: 108,312,100 (GRCm39) |
K172* |
probably null |
Het |
| Fat3 |
T |
C |
9: 15,909,411 (GRCm39) |
N2197S |
probably benign |
Het |
| Fbf1 |
A |
G |
11: 116,036,818 (GRCm39) |
V972A |
possibly damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,843,773 (GRCm39) |
V887A |
possibly damaging |
Het |
| Fes |
T |
C |
7: 80,036,609 (GRCm39) |
R113G |
probably damaging |
Het |
| Fzd1 |
G |
T |
5: 4,807,481 (GRCm39) |
H34N |
probably benign |
Het |
| Galnt17 |
T |
A |
5: 131,140,676 (GRCm39) |
Y147F |
probably benign |
Het |
| Garre1 |
T |
A |
7: 33,957,461 (GRCm39) |
I59L |
probably benign |
Het |
| Gdf6 |
T |
C |
4: 9,859,971 (GRCm39) |
L351P |
probably damaging |
Het |
| Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
| Gm2381 |
A |
T |
7: 42,469,352 (GRCm39) |
H257Q |
probably damaging |
Het |
| Hivep1 |
A |
T |
13: 42,309,122 (GRCm39) |
K454M |
probably benign |
Het |
| Hmmr |
T |
A |
11: 40,598,925 (GRCm39) |
E566D |
probably damaging |
Het |
| Hydin |
T |
G |
8: 111,314,404 (GRCm39) |
V4296G |
probably damaging |
Het |
| Il18r1 |
T |
A |
1: 40,514,074 (GRCm39) |
D93E |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,393,576 (GRCm39) |
D667G |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,714,855 (GRCm39) |
I3278T |
probably benign |
Het |
| Lrp4 |
T |
A |
2: 91,328,753 (GRCm39) |
V1551D |
possibly damaging |
Het |
| Mdn1 |
CGGAGGAGGAGGAGGAG |
CGGAGGAGGAGGAG |
4: 32,760,839 (GRCm39) |
|
probably benign |
Het |
| Mga |
T |
A |
2: 119,757,075 (GRCm39) |
H1018Q |
possibly damaging |
Het |
| Ncoa7 |
A |
T |
10: 30,565,796 (GRCm39) |
M666K |
probably damaging |
Het |
| Ndnf |
T |
G |
6: 65,680,297 (GRCm39) |
V192G |
possibly damaging |
Het |
| Nr4a1 |
T |
A |
15: 101,172,108 (GRCm39) |
I594N |
probably damaging |
Het |
| Or13a27 |
T |
C |
7: 139,925,378 (GRCm39) |
I175V |
probably benign |
Het |
| Or2ag16 |
T |
C |
7: 106,352,202 (GRCm39) |
N131S |
probably benign |
Het |
| Or4k44 |
T |
A |
2: 111,368,359 (GRCm39) |
I92F |
probably damaging |
Het |
| Or51q1 |
G |
A |
7: 103,628,997 (GRCm39) |
W199* |
probably null |
Het |
| Or52z13 |
A |
G |
7: 103,246,550 (GRCm39) |
N9S |
probably benign |
Het |
| Paxbp1 |
T |
C |
16: 90,841,193 (GRCm39) |
|
probably benign |
Het |
| Pcdhb8 |
A |
G |
18: 37,489,015 (GRCm39) |
E231G |
possibly damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,410,825 (GRCm39) |
Y1856N |
probably benign |
Het |
| Pde3a |
T |
C |
6: 141,195,965 (GRCm39) |
V217A |
probably benign |
Het |
| Phf11 |
A |
T |
14: 59,496,062 (GRCm39) |
S17R |
probably benign |
Het |
| Pira13 |
A |
T |
7: 3,825,918 (GRCm39) |
I317N |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,717,587 (GRCm39) |
D674E |
probably benign |
Het |
| Pnisr |
T |
A |
4: 21,869,517 (GRCm39) |
M335K |
possibly damaging |
Het |
| Pnpla7 |
T |
A |
2: 24,887,300 (GRCm39) |
M48K |
possibly damaging |
Het |
| Pomgnt2 |
A |
T |
9: 121,811,257 (GRCm39) |
I508N |
possibly damaging |
Het |
| Ppp2r5e |
C |
G |
12: 75,516,341 (GRCm39) |
A239P |
probably damaging |
Het |
| Prkca |
A |
T |
11: 107,830,438 (GRCm39) |
D217E |
possibly damaging |
Het |
| Rac3 |
A |
C |
11: 120,614,163 (GRCm39) |
I142L |
probably benign |
Het |
| Ralgapb |
G |
T |
2: 158,286,595 (GRCm39) |
A347S |
probably damaging |
Het |
| Rbm43 |
G |
C |
2: 51,815,446 (GRCm39) |
S258R |
possibly damaging |
Het |
| Rnf182 |
T |
A |
13: 43,821,899 (GRCm39) |
V150E |
probably benign |
Het |
| Rsph10b |
T |
C |
5: 143,922,309 (GRCm39) |
F409L |
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,715,235 (GRCm39) |
L2778M |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,161,696 (GRCm39) |
N284S |
possibly damaging |
Het |
| Scyl2 |
A |
T |
10: 89,476,767 (GRCm39) |
M786K |
probably benign |
Het |
| Sema4g |
C |
A |
19: 44,986,061 (GRCm39) |
R301S |
probably damaging |
Het |
| Senp6 |
A |
T |
9: 80,021,056 (GRCm39) |
E245D |
possibly damaging |
Het |
| Setx |
T |
C |
2: 29,053,021 (GRCm39) |
V2095A |
possibly damaging |
Het |
| Slc13a2 |
A |
T |
11: 78,290,968 (GRCm39) |
M412K |
possibly damaging |
Het |
| Slc25a4 |
T |
C |
8: 46,662,437 (GRCm39) |
N74D |
probably damaging |
Het |
| Slc28a1 |
T |
A |
7: 80,791,783 (GRCm39) |
F316L |
probably damaging |
Het |
| Slfn8 |
G |
A |
11: 82,894,447 (GRCm39) |
Q731* |
probably null |
Het |
| Slitrk4 |
A |
G |
X: 63,316,229 (GRCm39) |
I146T |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,753,422 (GRCm39) |
|
probably benign |
Het |
| Smg8 |
G |
T |
11: 86,971,439 (GRCm39) |
Y777* |
probably null |
Het |
| Smyd1 |
T |
A |
6: 71,216,563 (GRCm39) |
K61N |
probably benign |
Het |
| Sod2 |
T |
C |
17: 13,234,056 (GRCm39) |
*223R |
probably null |
Het |
| Sp6 |
G |
T |
11: 96,912,334 (GRCm39) |
A16S |
probably benign |
Het |
| Spata31d1a |
A |
C |
13: 59,850,509 (GRCm39) |
Y540D |
probably damaging |
Het |
| Spatc1l |
A |
G |
10: 76,399,751 (GRCm39) |
D91G |
probably damaging |
Het |
| Spg7 |
A |
G |
8: 123,807,480 (GRCm39) |
T419A |
probably benign |
Het |
| St8sia4 |
A |
G |
1: 95,555,298 (GRCm39) |
I244T |
probably damaging |
Het |
| Tbl2 |
C |
T |
5: 135,181,845 (GRCm39) |
R27W |
probably damaging |
Het |
| Tmed4 |
G |
A |
11: 6,224,694 (GRCm39) |
P47L |
probably damaging |
Het |
| Tmsb10b |
T |
C |
7: 24,561,731 (GRCm39) |
I10T |
possibly damaging |
Het |
| Tmtc1 |
T |
C |
6: 148,345,546 (GRCm39) |
D51G |
possibly damaging |
Het |
| Ttc28 |
T |
C |
5: 111,431,920 (GRCm39) |
|
probably null |
Het |
| Unc13d |
A |
G |
11: 115,961,121 (GRCm39) |
F412S |
probably damaging |
Het |
| Unc45b |
A |
C |
11: 82,816,913 (GRCm39) |
K451T |
probably damaging |
Het |
| Vmn2r16 |
A |
G |
5: 109,511,853 (GRCm39) |
M687V |
probably benign |
Het |
| Vmn2r68 |
T |
A |
7: 84,883,260 (GRCm39) |
H164L |
probably benign |
Het |
| Vps51 |
A |
G |
19: 6,119,499 (GRCm39) |
V625A |
probably benign |
Het |
| Wapl |
T |
A |
14: 34,413,869 (GRCm39) |
W244R |
probably damaging |
Het |
| Wdr75 |
C |
T |
1: 45,862,563 (GRCm39) |
T794I |
probably benign |
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 |
|
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 |
|
R7358:Epg5
|
UTSW |
18 |
78,002,252 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
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'- TCAGGCTCTGAACTATGGATATGAAC -3'
(R):5'- TTTTGCACGGGTGGACACAG -3'
Sequencing Primer
(F):5'- CTGAACTATGGATATGAACCAGGTAC -3'
(R):5'- TGGACACAGGGCATGCTG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation