Incidental Mutation 'R5000:Epg5'
ID |
444535 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epg5
|
Ensembl Gene |
ENSMUSG00000039840 |
Gene Name |
ectopic P-granules 5 autophagy tethering factor |
Synonyms |
5430411K18Rik |
MMRRC Submission |
042594-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.935)
|
Stock # |
R5000 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
77981680-78078228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 77997376 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 413
(V413A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038681
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044622]
|
AlphaFold |
Q80TA9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044622
AA Change: V413A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000038681 Gene: ENSMUSG00000039840 AA Change: V413A
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
Validation Efficiency |
98% (97/99) |
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: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022A10Rik |
T |
A |
7: 27,255,946 (GRCm39) |
F11Y |
probably benign |
Het |
Abca5 |
A |
G |
11: 110,201,050 (GRCm39) |
L450P |
probably damaging |
Het |
Abi1 |
T |
A |
2: 22,840,211 (GRCm39) |
R357W |
probably damaging |
Het |
Acot7 |
G |
A |
4: 152,270,820 (GRCm39) |
G55R |
probably benign |
Het |
Aicda |
G |
A |
6: 122,538,826 (GRCm39) |
V14I |
probably damaging |
Het |
Anxa4 |
G |
T |
6: 86,742,766 (GRCm39) |
|
probably benign |
Het |
Apobr |
T |
A |
7: 126,185,729 (GRCm39) |
D413E |
possibly damaging |
Het |
Ash1l |
T |
C |
3: 88,965,941 (GRCm39) |
Y2448H |
probably damaging |
Het |
Atf7ip |
A |
G |
6: 136,559,426 (GRCm39) |
E749G |
probably damaging |
Het |
Atp8b3 |
A |
T |
10: 80,357,676 (GRCm39) |
N1114K |
possibly damaging |
Het |
Bdnf |
C |
A |
2: 109,553,993 (GRCm39) |
N122K |
probably benign |
Het |
Boc |
A |
T |
16: 44,310,517 (GRCm39) |
I801N |
probably damaging |
Het |
Brap |
A |
T |
5: 121,800,089 (GRCm39) |
K37* |
probably null |
Het |
Ccar1 |
C |
T |
10: 62,586,784 (GRCm39) |
E885K |
unknown |
Het |
Ccdc103 |
A |
G |
11: 102,774,932 (GRCm39) |
N177S |
probably benign |
Het |
Ccdc116 |
G |
A |
16: 16,959,657 (GRCm39) |
P344L |
possibly damaging |
Het |
Cdca5 |
T |
C |
19: 6,135,463 (GRCm39) |
S28P |
possibly damaging |
Het |
Ceacam20 |
T |
C |
7: 19,699,453 (GRCm39) |
I14T |
probably damaging |
Het |
Chrnb1 |
A |
T |
11: 69,677,858 (GRCm39) |
V298E |
probably damaging |
Het |
Cnksr3 |
G |
A |
10: 7,076,746 (GRCm39) |
Q149* |
probably null |
Het |
Csnk1a1 |
T |
C |
18: 61,711,840 (GRCm39) |
F97L |
probably damaging |
Het |
Dag1 |
A |
T |
9: 108,085,216 (GRCm39) |
S642T |
probably benign |
Het |
Dedd2 |
A |
G |
7: 24,903,068 (GRCm39) |
V297A |
possibly damaging |
Het |
Dhcr7 |
C |
T |
7: 143,395,060 (GRCm39) |
T189M |
possibly damaging |
Het |
Dlgap1 |
T |
C |
17: 71,073,053 (GRCm39) |
S691P |
probably damaging |
Het |
Dmgdh |
A |
C |
13: 93,825,046 (GRCm39) |
H123P |
probably damaging |
Het |
Dnah6 |
C |
T |
6: 73,121,798 (GRCm39) |
V1395I |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,606,201 (GRCm39) |
Y1273C |
probably damaging |
Het |
Dnah7b |
T |
A |
1: 46,138,663 (GRCm39) |
L235* |
probably null |
Het |
Elac2 |
T |
C |
11: 64,876,379 (GRCm39) |
F3L |
probably benign |
Het |
Elovl7 |
A |
T |
13: 108,410,915 (GRCm39) |
K163N |
probably benign |
Het |
Espl1 |
T |
A |
15: 102,206,986 (GRCm39) |
L150Q |
probably damaging |
Het |
F2rl3 |
T |
A |
8: 73,489,307 (GRCm39) |
L178Q |
probably damaging |
Het |
Fam120a |
T |
C |
13: 49,051,143 (GRCm39) |
E754G |
probably damaging |
Het |
Fam53b |
T |
C |
7: 132,317,730 (GRCm39) |
N304S |
probably benign |
Het |
Fbxo41 |
T |
C |
6: 85,460,901 (GRCm39) |
E269G |
probably damaging |
Het |
Fcrla |
T |
C |
1: 170,749,959 (GRCm39) |
T4A |
probably benign |
Het |
Frmpd1 |
A |
T |
4: 45,261,931 (GRCm39) |
|
probably null |
Het |
Gm9376 |
A |
G |
14: 118,504,702 (GRCm39) |
M45V |
probably benign |
Het |
Gpr68 |
G |
A |
12: 100,844,596 (GRCm39) |
A316V |
probably benign |
Het |
Hmgcl |
G |
A |
4: 135,689,511 (GRCm39) |
C323Y |
probably benign |
Het |
Hnrnpu |
T |
C |
1: 178,156,941 (GRCm39) |
|
probably benign |
Het |
Ier2 |
T |
A |
8: 85,389,353 (GRCm39) |
I10F |
probably damaging |
Het |
Ip6k1 |
C |
T |
9: 107,922,798 (GRCm39) |
Q234* |
probably null |
Het |
Llgl2 |
T |
C |
11: 115,735,728 (GRCm39) |
V108A |
probably benign |
Het |
Lrfn3 |
T |
C |
7: 30,059,805 (GRCm39) |
N140S |
possibly damaging |
Het |
Lrig1 |
T |
A |
6: 94,588,430 (GRCm39) |
H573L |
probably damaging |
Het |
Lrrk2 |
T |
A |
15: 91,634,081 (GRCm39) |
W1393R |
probably damaging |
Het |
Mrc1 |
T |
A |
2: 14,249,000 (GRCm39) |
Y179N |
probably damaging |
Het |
Mtfr1 |
C |
T |
3: 19,265,743 (GRCm39) |
L93F |
probably damaging |
Het |
Muc19 |
T |
C |
15: 91,757,429 (GRCm39) |
|
noncoding transcript |
Het |
Ndst2 |
C |
T |
14: 20,774,975 (GRCm39) |
|
probably null |
Het |
Nmd3 |
A |
T |
3: 69,624,735 (GRCm39) |
|
probably benign |
Het |
Nsd3 |
A |
G |
8: 26,172,593 (GRCm39) |
Y784C |
probably damaging |
Het |
Or4a27 |
A |
T |
2: 88,559,910 (GRCm39) |
I11N |
probably damaging |
Het |
Or7a36 |
G |
A |
10: 78,820,514 (GRCm39) |
V297I |
probably benign |
Het |
Papln |
A |
G |
12: 83,821,663 (GRCm39) |
Y297C |
probably damaging |
Het |
Pdhx |
T |
C |
2: 102,871,385 (GRCm39) |
|
probably null |
Het |
Pdpk1 |
T |
C |
17: 24,330,019 (GRCm39) |
T6A |
possibly damaging |
Het |
Prcp |
T |
C |
7: 92,568,368 (GRCm39) |
W267R |
probably damaging |
Het |
Prg2 |
T |
C |
2: 84,812,367 (GRCm39) |
S26P |
probably benign |
Het |
Psg26 |
A |
T |
7: 18,214,057 (GRCm39) |
Y202N |
possibly damaging |
Het |
Psrc1 |
T |
C |
3: 108,287,839 (GRCm39) |
|
probably benign |
Het |
Rap1gds1 |
A |
T |
3: 138,662,011 (GRCm39) |
M366K |
probably damaging |
Het |
Robo4 |
G |
T |
9: 37,319,664 (GRCm39) |
R527L |
probably benign |
Het |
Sel1l3 |
G |
A |
5: 53,357,776 (GRCm39) |
T72M |
probably damaging |
Het |
Selenoo |
G |
A |
15: 88,978,387 (GRCm39) |
R270H |
probably damaging |
Het |
Sema3d |
A |
G |
5: 12,498,005 (GRCm39) |
T4A |
probably benign |
Het |
Shroom1 |
A |
T |
11: 53,357,944 (GRCm39) |
|
probably benign |
Het |
Slc25a19 |
T |
C |
11: 115,507,497 (GRCm39) |
|
probably null |
Het |
Snx29 |
A |
C |
16: 11,221,371 (GRCm39) |
I266L |
probably damaging |
Het |
Spo11 |
T |
C |
2: 172,831,193 (GRCm39) |
S255P |
probably damaging |
Het |
Spock3 |
T |
C |
8: 63,698,158 (GRCm39) |
V167A |
possibly damaging |
Het |
Tmc7 |
A |
G |
7: 118,158,077 (GRCm39) |
|
probably null |
Het |
Tmtc4 |
A |
G |
14: 123,170,743 (GRCm39) |
V509A |
possibly damaging |
Het |
Trim24 |
A |
G |
6: 37,935,547 (GRCm39) |
D880G |
probably benign |
Het |
Ube2j2 |
G |
A |
4: 156,030,841 (GRCm39) |
M1I |
probably null |
Het |
Ubr4 |
T |
A |
4: 139,163,480 (GRCm39) |
C2627S |
probably damaging |
Het |
Unc5d |
A |
T |
8: 29,205,775 (GRCm39) |
M512K |
possibly damaging |
Het |
Usp18 |
A |
G |
6: 121,229,479 (GRCm39) |
R33G |
possibly damaging |
Het |
Utp23 |
T |
A |
15: 51,745,569 (GRCm39) |
V23D |
probably damaging |
Het |
Wdr17 |
T |
A |
8: 55,118,161 (GRCm39) |
M512L |
possibly damaging |
Het |
Wdr64 |
T |
A |
1: 175,553,941 (GRCm39) |
|
probably null |
Het |
Zbtb6 |
T |
C |
2: 37,319,251 (GRCm39) |
T226A |
probably benign |
Het |
Zc3hc1 |
T |
A |
6: 30,375,987 (GRCm39) |
H191L |
possibly damaging |
Het |
Zdhhc4 |
C |
A |
5: 143,310,688 (GRCm39) |
C48F |
probably damaging |
Het |
Zfp335 |
T |
A |
2: 164,736,588 (GRCm39) |
T1016S |
probably benign |
Het |
Zfp583 |
A |
G |
7: 6,328,473 (GRCm39) |
Y39H |
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 |
|
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 |
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'- TCTGAAGAGTCGTCCCTCAC -3'
(R):5'- CTGACCTCAAAGGCAGAGTTC -3'
Sequencing Primer
(F):5'- GAAGAGTCGTCCCTCACAGAGC -3'
(R):5'- CCTCAAAGGCAGAGTTCATTAAAG -3'
|
Posted On |
2016-11-11 |