Incidental Mutation 'R4612:Epg5'
| ID |
344895 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epg5
|
| Ensembl Gene |
ENSMUSG00000039840 |
| Gene Name |
ectopic P-granules 5 autophagy tethering factor |
| Synonyms |
5430411K18Rik |
| MMRRC Submission |
041823-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.935)
|
| Stock # |
R4612 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
77981680-78078228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 78025629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 1224
(T1224I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044622]
|
| AlphaFold |
Q80TA9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044622
AA Change: T1224I
PolyPhen 2
Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000038681
Gene: ENSMUSG00000039840
AA Change: T1224I
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 109 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019D03Rik |
T |
C |
1: 52,964,635 (GRCm39) |
D31G |
probably benign |
Het |
| 5730455P16Rik |
A |
T |
11: 80,268,806 (GRCm39) |
M1K |
probably null |
Het |
| Abca15 |
A |
G |
7: 119,934,384 (GRCm39) |
D120G |
probably benign |
Het |
| Adam26a |
A |
T |
8: 44,021,830 (GRCm39) |
N553K |
probably damaging |
Het |
| Adam32 |
A |
T |
8: 25,362,752 (GRCm39) |
C558S |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,079,587 (GRCm39) |
F212L |
probably benign |
Het |
| Adam39 |
A |
T |
8: 41,278,958 (GRCm39) |
S450C |
probably damaging |
Het |
| Agap2 |
A |
T |
10: 126,915,965 (GRCm39) |
T159S |
unknown |
Het |
| Ahnak |
G |
A |
19: 8,981,088 (GRCm39) |
V791I |
probably benign |
Het |
| Ak7 |
T |
G |
12: 105,727,772 (GRCm39) |
L468R |
probably damaging |
Het |
| Akap12 |
A |
G |
10: 4,304,456 (GRCm39) |
D422G |
probably damaging |
Het |
| Antxr1 |
T |
A |
6: 87,265,155 (GRCm39) |
I129F |
probably damaging |
Het |
| Arhgap32 |
G |
A |
9: 32,170,775 (GRCm39) |
G1185D |
probably damaging |
Het |
| Atf7ip2 |
A |
T |
16: 10,059,427 (GRCm39) |
E322D |
probably benign |
Het |
| Atg4b |
T |
C |
1: 93,714,263 (GRCm39) |
F349L |
probably damaging |
Het |
| Atp6v1c1 |
A |
G |
15: 38,677,856 (GRCm39) |
K127R |
probably damaging |
Het |
| Atxn1l |
C |
T |
8: 110,458,736 (GRCm39) |
V509M |
possibly damaging |
Het |
| B3glct |
T |
A |
5: 149,663,022 (GRCm39) |
I260N |
probably damaging |
Het |
| Bcl2l12 |
G |
A |
7: 44,646,009 (GRCm39) |
P70L |
probably damaging |
Het |
| Bok |
T |
A |
1: 93,621,900 (GRCm39) |
F157L |
probably damaging |
Het |
| Bves |
G |
A |
10: 45,215,373 (GRCm39) |
G16D |
probably benign |
Het |
| Cacna1b |
T |
A |
2: 24,516,864 (GRCm39) |
K65* |
probably null |
Het |
| Casc3 |
A |
G |
11: 98,713,784 (GRCm39) |
T339A |
probably benign |
Het |
| Ccdc18 |
C |
T |
5: 108,283,307 (GRCm39) |
S6L |
probably benign |
Het |
| Cd86 |
A |
G |
16: 36,435,692 (GRCm39) |
Y242H |
probably benign |
Het |
| Chd3 |
A |
C |
11: 69,244,035 (GRCm39) |
Y1249* |
probably null |
Het |
| Chrne |
T |
C |
11: 70,507,848 (GRCm39) |
T284A |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,523,339 (GRCm39) |
D2746G |
probably damaging |
Het |
| Cryaa |
T |
A |
17: 31,897,448 (GRCm39) |
M72K |
probably benign |
Het |
| Csmd1 |
G |
T |
8: 15,971,908 (GRCm39) |
|
probably null |
Het |
| Det1 |
A |
T |
7: 78,493,454 (GRCm39) |
N183K |
probably damaging |
Het |
| Dis3 |
C |
A |
14: 99,328,871 (GRCm39) |
V294L |
probably benign |
Het |
| Dnah2 |
G |
A |
11: 69,374,193 (GRCm39) |
L1493F |
possibly damaging |
Het |
| Dsc2 |
A |
T |
18: 20,174,876 (GRCm39) |
D466E |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,595,470 (GRCm39) |
S558T |
probably benign |
Het |
| Dzip3 |
A |
T |
16: 48,772,403 (GRCm39) |
L422* |
probably null |
Het |
| Elp6 |
T |
C |
9: 110,143,087 (GRCm39) |
F100S |
probably damaging |
Het |
| Exoc1l |
A |
T |
5: 76,664,345 (GRCm39) |
N145Y |
probably damaging |
Het |
| F830016B08Rik |
T |
A |
18: 60,434,087 (GRCm39) |
I390N |
probably benign |
Het |
| Fam110c |
A |
G |
12: 31,124,655 (GRCm39) |
T206A |
unknown |
Het |
| Fam187b |
G |
A |
7: 30,676,518 (GRCm39) |
G9D |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,478,184 (GRCm39) |
D2410G |
probably damaging |
Het |
| Fbln1 |
T |
A |
15: 85,122,760 (GRCm39) |
F390Y |
probably benign |
Het |
| Fgg |
A |
G |
3: 82,917,397 (GRCm39) |
N142S |
probably damaging |
Het |
| Fhip1a |
G |
A |
3: 85,637,679 (GRCm39) |
R207* |
probably null |
Het |
| Flcn |
T |
C |
11: 59,683,513 (GRCm39) |
T555A |
probably damaging |
Het |
| Foxq1 |
G |
T |
13: 31,742,808 (GRCm39) |
|
probably benign |
Het |
| Gm3233 |
A |
T |
10: 77,595,498 (GRCm39) |
|
probably benign |
Het |
| Gprc5a |
G |
A |
6: 135,055,927 (GRCm39) |
V125I |
probably damaging |
Het |
| Gria2 |
T |
C |
3: 80,639,358 (GRCm39) |
D218G |
probably damaging |
Het |
| Gtf3c5 |
C |
T |
2: 28,469,596 (GRCm39) |
A103T |
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,266,886 (GRCm39) |
T1964A |
possibly damaging |
Het |
| Htatip2 |
G |
T |
7: 49,422,345 (GRCm39) |
E188* |
probably null |
Het |
| Ifna13 |
T |
G |
4: 88,562,113 (GRCm39) |
E170D |
probably damaging |
Het |
| Il4ra |
A |
G |
7: 125,175,255 (GRCm39) |
T488A |
probably benign |
Het |
| Jup |
G |
T |
11: 100,272,660 (GRCm39) |
H251N |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,852,426 (GRCm39) |
|
probably null |
Het |
| Klhl28 |
T |
A |
12: 65,004,034 (GRCm39) |
I160L |
probably damaging |
Het |
| Klk1b5 |
A |
T |
7: 43,494,696 (GRCm39) |
T60S |
possibly damaging |
Het |
| Kntc1 |
A |
G |
5: 123,950,706 (GRCm39) |
R1995G |
probably damaging |
Het |
| Lrig2 |
A |
C |
3: 104,370,099 (GRCm39) |
I844M |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,288,771 (GRCm39) |
W3698* |
probably null |
Het |
| Lyar |
T |
A |
5: 38,382,053 (GRCm39) |
S12T |
possibly damaging |
Het |
| Map3k19 |
T |
C |
1: 127,743,037 (GRCm39) |
K1507E |
probably benign |
Het |
| Mre11a |
G |
A |
9: 14,714,199 (GRCm39) |
G267R |
probably damaging |
Het |
| Mthfd1l |
A |
G |
10: 3,980,717 (GRCm39) |
Q473R |
probably damaging |
Het |
| Ncald |
T |
A |
15: 37,397,593 (GRCm39) |
E29V |
probably benign |
Het |
| Neb |
T |
C |
2: 52,177,255 (GRCm39) |
D1362G |
probably damaging |
Het |
| Nme2 |
T |
C |
11: 93,846,428 (GRCm39) |
T7A |
possibly damaging |
Het |
| Nod2 |
T |
A |
8: 89,391,664 (GRCm39) |
L657Q |
possibly damaging |
Het |
| Nrm |
T |
A |
17: 36,174,421 (GRCm39) |
V75E |
probably benign |
Het |
| Ogfod1 |
A |
C |
8: 94,763,975 (GRCm39) |
K20T |
possibly damaging |
Het |
| Omp |
T |
C |
7: 97,794,348 (GRCm39) |
N93S |
probably damaging |
Het |
| Or10h28 |
T |
A |
17: 33,488,454 (GRCm39) |
V252E |
probably benign |
Het |
| Or14a256 |
T |
A |
7: 86,264,944 (GRCm39) |
Q303L |
probably benign |
Het |
| Or5h27 |
T |
C |
16: 59,006,674 (GRCm39) |
I57M |
probably damaging |
Het |
| Pcdhb15 |
A |
C |
18: 37,608,648 (GRCm39) |
T627P |
probably damaging |
Het |
| Pld1 |
A |
G |
3: 28,185,882 (GRCm39) |
T1036A |
possibly damaging |
Het |
| Pogk |
C |
A |
1: 166,226,334 (GRCm39) |
E606* |
probably null |
Het |
| Ppp1r10 |
T |
A |
17: 36,238,823 (GRCm39) |
L292Q |
probably damaging |
Het |
| Prpf6 |
T |
C |
2: 181,273,872 (GRCm39) |
C339R |
possibly damaging |
Het |
| Psd |
T |
A |
19: 46,301,778 (GRCm39) |
D937V |
probably benign |
Het |
| Rbak |
T |
C |
5: 143,160,222 (GRCm39) |
Q277R |
probably benign |
Het |
| Sbno1 |
T |
A |
5: 124,542,087 (GRCm39) |
Y355F |
probably damaging |
Het |
| Sec23ip |
C |
T |
7: 128,352,226 (GRCm39) |
Q201* |
probably null |
Het |
| Serpinb3a |
T |
C |
1: 106,975,337 (GRCm39) |
K157E |
probably damaging |
Het |
| Slc22a28 |
A |
T |
19: 8,078,770 (GRCm39) |
N306K |
probably damaging |
Het |
| Smarca2 |
C |
A |
19: 26,753,625 (GRCm39) |
D1584E |
possibly damaging |
Het |
| Snx29 |
C |
A |
16: 11,265,359 (GRCm39) |
Q530K |
probably damaging |
Het |
| Stard10 |
C |
A |
7: 100,994,877 (GRCm39) |
Q278K |
possibly damaging |
Het |
| Tgm2 |
C |
T |
2: 157,966,124 (GRCm39) |
C510Y |
probably benign |
Het |
| Tlr9 |
C |
T |
9: 106,101,006 (GRCm39) |
P99L |
probably damaging |
Het |
| Tmco4 |
T |
C |
4: 138,717,871 (GRCm39) |
W4R |
probably benign |
Het |
| Tmem151a |
T |
A |
19: 5,121,862 (GRCm39) |
|
probably benign |
Het |
| Tmem255b |
T |
C |
8: 13,504,228 (GRCm39) |
V140A |
probably benign |
Het |
| Trbj1-2 |
C |
T |
6: 41,510,950 (GRCm39) |
|
probably benign |
Het |
| Trpm2 |
T |
C |
10: 77,781,750 (GRCm39) |
T290A |
probably damaging |
Het |
| Tsc22d1 |
G |
A |
14: 76,656,445 (GRCm39) |
E120K |
possibly damaging |
Het |
| Ttc29 |
A |
G |
8: 79,052,175 (GRCm39) |
D352G |
probably benign |
Het |
| Usp25 |
A |
T |
16: 76,830,833 (GRCm39) |
I30F |
possibly damaging |
Het |
| Usp34 |
A |
C |
11: 23,382,268 (GRCm39) |
N1993T |
probably damaging |
Het |
| Vmn2r124 |
A |
C |
17: 18,283,284 (GRCm39) |
H326P |
probably benign |
Het |
| Vmn2r92 |
C |
A |
17: 18,387,132 (GRCm39) |
T157K |
probably benign |
Het |
| Vstm5 |
A |
T |
9: 15,168,789 (GRCm39) |
I118F |
probably benign |
Het |
| Vwa7 |
T |
C |
17: 35,242,426 (GRCm39) |
V510A |
probably damaging |
Het |
| Zfhx4 |
G |
A |
3: 5,462,123 (GRCm39) |
S1266N |
probably damaging |
Het |
| Zfp763 |
T |
A |
17: 33,237,922 (GRCm39) |
N408Y |
probably benign |
Het |
| Zswim5 |
C |
T |
4: 116,843,901 (GRCm39) |
H980Y |
probably damaging |
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 |
|
|
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'- TGCTAATAGCCTTGGGTAGAGTC -3'
(R):5'- TGTTCTGAGTGCTATACATACAGC -3'
Sequencing Primer
(F):5'- ATAGCCTTGGGTAGAGTCAAAGTCTC -3'
(R):5'- TCATCTGACTGTGAGGAAACTG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation