Incidental Mutation 'R6228:Epg5'
ID |
504520 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epg5
|
Ensembl Gene |
ENSMUSG00000039840 |
Gene Name |
ectopic P-granules 5 autophagy tethering factor |
Synonyms |
5430411K18Rik |
MMRRC Submission |
044357-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.935)
|
Stock # |
R6228 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
77981680-78078228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 77991677 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 125
(V125F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038681
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044622]
|
AlphaFold |
Q80TA9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044622
AA Change: V125F
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000038681 Gene: ENSMUSG00000039840 AA Change: V125F
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 |
|
Meta Mutation Damage Score |
0.1108 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.9%
|
Validation Efficiency |
100% (93/93) |
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: 93 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
G |
T |
7: 45,679,680 (GRCm39) |
T9K |
probably benign |
Het |
Ankrd28 |
T |
C |
14: 31,429,177 (GRCm39) |
H925R |
probably damaging |
Het |
Antxrl |
A |
T |
14: 33,778,556 (GRCm39) |
T128S |
probably damaging |
Het |
Atosa |
A |
G |
9: 74,913,645 (GRCm39) |
M100V |
possibly damaging |
Het |
Atp8b5 |
T |
C |
4: 43,304,674 (GRCm39) |
Y62H |
probably damaging |
Het |
Bmpr2 |
G |
T |
1: 59,906,595 (GRCm39) |
V563L |
probably benign |
Het |
Btn1a1 |
A |
T |
13: 23,648,521 (GRCm39) |
L104Q |
probably damaging |
Het |
Caskin1 |
C |
G |
17: 24,726,154 (GRCm39) |
D1420E |
probably damaging |
Het |
Cdc14a |
A |
T |
3: 116,144,862 (GRCm39) |
I150N |
probably damaging |
Het |
Cdc26 |
C |
T |
4: 62,321,031 (GRCm39) |
R4Q |
probably damaging |
Het |
Cfap46 |
T |
C |
7: 139,236,496 (GRCm39) |
D160G |
probably damaging |
Het |
Cxcr4 |
A |
C |
1: 128,519,920 (GRCm39) |
|
probably null |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dgat1 |
T |
C |
15: 76,387,493 (GRCm39) |
N317S |
possibly damaging |
Het |
Disp1 |
G |
A |
1: 182,880,589 (GRCm39) |
T228M |
possibly damaging |
Het |
Dixdc1 |
A |
C |
9: 50,614,656 (GRCm39) |
|
probably null |
Het |
Dnase1l2 |
C |
A |
17: 24,661,492 (GRCm39) |
|
probably benign |
Het |
Dsg2 |
T |
C |
18: 20,727,350 (GRCm39) |
|
probably null |
Het |
Duox2 |
A |
T |
2: 122,117,674 (GRCm39) |
F887I |
probably benign |
Het |
Duxf4 |
A |
G |
10: 58,071,344 (GRCm39) |
M290T |
probably benign |
Het |
Efcab6 |
T |
C |
15: 83,851,825 (GRCm39) |
D351G |
possibly damaging |
Het |
Ep400 |
A |
G |
5: 110,818,808 (GRCm39) |
V2621A |
probably damaging |
Het |
Ephb1 |
T |
C |
9: 101,800,783 (GRCm39) |
R953G |
probably damaging |
Het |
Etfdh |
G |
T |
3: 79,519,336 (GRCm39) |
Y272* |
probably null |
Het |
Fam117b |
A |
G |
1: 60,008,207 (GRCm39) |
E347G |
probably damaging |
Het |
Gfra3 |
A |
T |
18: 34,828,846 (GRCm39) |
C183S |
probably damaging |
Het |
Gmip |
A |
G |
8: 70,268,773 (GRCm39) |
D466G |
probably damaging |
Het |
Golga5 |
G |
A |
12: 102,450,740 (GRCm39) |
M464I |
probably benign |
Het |
Gpd1 |
A |
T |
15: 99,621,146 (GRCm39) |
Q320L |
possibly damaging |
Het |
H2-Oa |
G |
T |
17: 34,312,851 (GRCm39) |
D43Y |
probably damaging |
Het |
Hecw1 |
T |
A |
13: 14,520,623 (GRCm39) |
I205F |
probably damaging |
Het |
Ighv8-13 |
A |
G |
12: 115,728,973 (GRCm39) |
Y95H |
probably damaging |
Het |
Igkv6-20 |
T |
C |
6: 70,313,081 (GRCm39) |
M31V |
possibly damaging |
Het |
Itih1 |
T |
C |
14: 30,653,217 (GRCm39) |
D737G |
probably benign |
Het |
Kcnc4 |
G |
C |
3: 107,355,693 (GRCm39) |
H252D |
probably damaging |
Het |
Kcnj14 |
T |
A |
7: 45,468,921 (GRCm39) |
T195S |
probably damaging |
Het |
Limch1 |
A |
T |
5: 67,173,845 (GRCm39) |
D642V |
probably damaging |
Het |
Lrp2 |
T |
G |
2: 69,312,710 (GRCm39) |
D2526A |
possibly damaging |
Het |
Lrrc8a |
A |
G |
2: 30,146,565 (GRCm39) |
T460A |
possibly damaging |
Het |
Lrrn4cl |
A |
G |
19: 8,829,135 (GRCm39) |
T38A |
probably benign |
Het |
Lypd8 |
A |
T |
11: 58,277,629 (GRCm39) |
Q137L |
possibly damaging |
Het |
Mapkapk3 |
A |
G |
9: 107,137,262 (GRCm39) |
Y206H |
probably damaging |
Het |
Mrc1 |
G |
A |
2: 14,276,115 (GRCm39) |
G483D |
probably benign |
Het |
Mrpl35 |
C |
A |
6: 71,800,661 (GRCm39) |
|
probably benign |
Het |
Mycbp2 |
T |
A |
14: 103,497,665 (GRCm39) |
H936L |
probably benign |
Het |
Myh3 |
A |
T |
11: 66,978,312 (GRCm39) |
Y433F |
probably benign |
Het |
Napb |
C |
T |
2: 148,540,098 (GRCm39) |
|
probably null |
Het |
Nbeal1 |
C |
A |
1: 60,335,083 (GRCm39) |
Q2288K |
probably benign |
Het |
Ndst3 |
G |
A |
3: 123,465,301 (GRCm39) |
Q224* |
probably null |
Het |
Nkapd1 |
A |
G |
9: 50,518,971 (GRCm39) |
S214P |
possibly damaging |
Het |
Nkd2 |
A |
G |
13: 73,969,579 (GRCm39) |
S284P |
probably benign |
Het |
Or10a2 |
T |
C |
7: 106,673,343 (GRCm39) |
Y103H |
probably damaging |
Het |
Or5b12 |
A |
T |
19: 12,897,301 (GRCm39) |
V124E |
probably damaging |
Het |
Or6k2 |
G |
A |
1: 173,979,712 (GRCm39) |
S210N |
probably benign |
Het |
Or8h10 |
T |
C |
2: 86,809,035 (GRCm39) |
Y35C |
probably damaging |
Het |
Pcdhb8 |
A |
G |
18: 37,490,037 (GRCm39) |
T572A |
probably benign |
Het |
Pcdhb9 |
A |
G |
18: 37,535,115 (GRCm39) |
I370V |
probably benign |
Het |
Pcsk5 |
T |
G |
19: 17,558,631 (GRCm39) |
E592A |
possibly damaging |
Het |
Pigc |
T |
C |
1: 161,798,036 (GRCm39) |
V6A |
probably benign |
Het |
Pla2g6 |
T |
G |
15: 79,189,924 (GRCm39) |
I389L |
probably benign |
Het |
Pnliprp2 |
T |
C |
19: 58,751,874 (GRCm39) |
|
probably null |
Het |
Psmb11 |
T |
C |
14: 54,863,646 (GRCm39) |
V288A |
probably benign |
Het |
Rapgef5 |
A |
G |
12: 117,685,398 (GRCm39) |
|
probably null |
Het |
Rcn3 |
T |
C |
7: 44,732,720 (GRCm39) |
N316S |
probably damaging |
Het |
Rgs6 |
A |
G |
12: 83,112,738 (GRCm39) |
K183E |
probably damaging |
Het |
Rhoc |
A |
G |
3: 104,700,297 (GRCm39) |
|
probably null |
Het |
Serinc5 |
T |
C |
13: 92,844,616 (GRCm39) |
C453R |
probably damaging |
Het |
Slc14a1 |
A |
C |
18: 78,159,614 (GRCm39) |
M93R |
probably damaging |
Het |
Slc25a3 |
A |
T |
10: 90,958,090 (GRCm39) |
D83E |
probably damaging |
Het |
Slc36a3 |
T |
C |
11: 55,015,777 (GRCm39) |
Y459C |
probably benign |
Het |
Slc44a5 |
A |
T |
3: 153,944,800 (GRCm39) |
Y139F |
probably benign |
Het |
Spag17 |
A |
T |
3: 99,929,918 (GRCm39) |
Q539L |
probably benign |
Het |
Stap2 |
C |
T |
17: 56,306,976 (GRCm39) |
V234M |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,544,231 (GRCm39) |
Y4450C |
probably damaging |
Het |
Taf6l |
C |
T |
19: 8,756,030 (GRCm39) |
R206Q |
probably benign |
Het |
Tbc1d23 |
C |
T |
16: 57,003,266 (GRCm39) |
V501I |
probably damaging |
Het |
Thap2 |
T |
C |
10: 115,208,751 (GRCm39) |
H123R |
probably damaging |
Het |
Tlx3 |
C |
A |
11: 33,152,432 (GRCm39) |
W221L |
probably benign |
Het |
Tmem262 |
T |
A |
19: 6,130,567 (GRCm39) |
|
probably null |
Het |
Tpmt |
C |
A |
13: 47,180,735 (GRCm39) |
R201S |
probably benign |
Het |
Trpm6 |
T |
C |
19: 18,831,655 (GRCm39) |
S1507P |
probably damaging |
Het |
Ttc9c |
T |
C |
19: 8,795,847 (GRCm39) |
E64G |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,640,790 (GRCm39) |
S13653T |
probably damaging |
Het |
Ugt3a1 |
G |
T |
15: 9,310,726 (GRCm39) |
W336L |
possibly damaging |
Het |
Vmn1r215 |
C |
A |
13: 23,260,633 (GRCm39) |
N224K |
probably benign |
Het |
Vmn2r59 |
C |
T |
7: 41,691,835 (GRCm39) |
|
probably null |
Het |
Wdfy3 |
A |
G |
5: 102,046,295 (GRCm39) |
S1853P |
possibly damaging |
Het |
Wdr36 |
A |
T |
18: 32,975,059 (GRCm39) |
Y137F |
possibly damaging |
Het |
Zdhhc17 |
T |
C |
10: 110,792,216 (GRCm39) |
D324G |
probably benign |
Het |
Zfp217 |
T |
C |
2: 169,961,497 (GRCm39) |
T277A |
probably benign |
Het |
Zfp451 |
A |
G |
1: 33,842,219 (GRCm39) |
|
probably benign |
Het |
Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
Het |
Zfp871 |
T |
C |
17: 32,994,858 (GRCm39) |
S106G |
possibly 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 |
|
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 |
|
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'- CTCAAAGGAGATGACCTGAAGTCG -3'
(R):5'- ACACCTTTGAACAGCCGAGG -3'
Sequencing Primer
(F):5'- ACCTGAAGTCGTCTGCTGAC -3'
(R):5'- AGGGCGGCTTCATCTTGC -3'
|
Posted On |
2018-02-28 |