Incidental Mutation 'R0335:Epg5'
| ID |
26236 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epg5
|
| Ensembl Gene |
ENSMUSG00000039840 |
| Gene Name |
ectopic P-granules 5 autophagy tethering factor |
| Synonyms |
5430411K18Rik |
| MMRRC Submission |
038544-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.937)
|
| Stock # |
R0335 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
77981680-78078228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 78029687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 1350
(T1350M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044622]
|
| AlphaFold |
Q80TA9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044622
AA Change: T1350M
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000038681
Gene: ENSMUSG00000039840
AA Change: T1350M
| 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: 98.8%
- 3x: 97.6%
- 10x: 94.6%
- 20x: 87.5%
|
| Validation Efficiency |
100% (89/89) |
| 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 |
|---|
| Adamts12 |
G |
T |
15: 11,311,144 (GRCm39) |
D1134Y |
possibly damaging |
Het |
| Add3 |
A |
G |
19: 53,225,259 (GRCm39) |
T460A |
probably benign |
Het |
| Amer3 |
A |
C |
1: 34,618,381 (GRCm39) |
|
probably benign |
Het |
| Arhgap22 |
C |
T |
14: 33,081,065 (GRCm39) |
|
probably benign |
Het |
| Arhgap32 |
T |
G |
9: 32,171,056 (GRCm39) |
S1279A |
probably benign |
Het |
| Bcas1 |
G |
A |
2: 170,260,601 (GRCm39) |
T26M |
probably damaging |
Het |
| Begain |
A |
T |
12: 109,004,860 (GRCm39) |
F256I |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,023,301 (GRCm39) |
V2210A |
probably damaging |
Het |
| Cabin1 |
A |
T |
10: 75,492,883 (GRCm39) |
I1804N |
probably damaging |
Het |
| Cad |
G |
A |
5: 31,231,329 (GRCm39) |
|
probably benign |
Het |
| Carmil1 |
G |
A |
13: 24,257,966 (GRCm39) |
S762L |
probably damaging |
Het |
| Ccdc93 |
T |
A |
1: 121,420,706 (GRCm39) |
L529Q |
probably damaging |
Het |
| Cdh12 |
T |
A |
15: 21,578,635 (GRCm39) |
|
probably null |
Het |
| Cep15 |
A |
G |
14: 12,301,266 (GRCm38) |
E124G |
possibly damaging |
Het |
| Clip2 |
T |
A |
5: 134,564,069 (GRCm39) |
|
probably benign |
Het |
| Cmip |
T |
C |
8: 118,172,105 (GRCm39) |
I480T |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 96,498,628 (GRCm39) |
I203K |
probably benign |
Het |
| Col18a1 |
G |
A |
10: 76,895,197 (GRCm39) |
P1155S |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,531,956 (GRCm39) |
|
probably benign |
Het |
| Crybg3 |
A |
T |
16: 59,364,503 (GRCm39) |
L2373Q |
probably damaging |
Het |
| D130043K22Rik |
A |
T |
13: 25,071,860 (GRCm39) |
I935F |
probably damaging |
Het |
| Dapl1 |
T |
A |
2: 59,326,938 (GRCm39) |
D61E |
possibly damaging |
Het |
| Def6 |
A |
G |
17: 28,447,043 (GRCm39) |
D558G |
possibly damaging |
Het |
| Dnah6 |
T |
C |
6: 73,046,382 (GRCm39) |
|
probably benign |
Het |
| Dvl2 |
G |
A |
11: 69,891,861 (GRCm39) |
|
probably benign |
Het |
| Ecd |
A |
C |
14: 20,370,802 (GRCm39) |
V639G |
probably benign |
Het |
| Erbb4 |
C |
A |
1: 68,298,418 (GRCm39) |
M657I |
probably benign |
Het |
| Evi5 |
T |
C |
5: 107,960,277 (GRCm39) |
R431G |
probably benign |
Het |
| Fbxo11 |
G |
A |
17: 88,323,041 (GRCm39) |
A115V |
possibly damaging |
Het |
| Fgfr2 |
T |
C |
7: 129,797,979 (GRCm39) |
T192A |
probably benign |
Het |
| Gas7 |
C |
T |
11: 67,552,878 (GRCm39) |
A146V |
possibly damaging |
Het |
| Gatad2b |
T |
A |
3: 90,263,489 (GRCm39) |
S529T |
probably benign |
Het |
| Gm10722 |
G |
T |
9: 3,001,048 (GRCm39) |
Q41H |
probably null |
Het |
| Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
| Gm7535 |
A |
G |
17: 18,131,374 (GRCm39) |
|
probably benign |
Het |
| Gstm1 |
T |
A |
3: 107,920,012 (GRCm39) |
N193I |
possibly damaging |
Het |
| Heatr5b |
G |
A |
17: 79,135,375 (GRCm39) |
P252L |
probably benign |
Het |
| Hmgb1 |
A |
G |
5: 148,987,441 (GRCm39) |
V36A |
probably benign |
Het |
| Hrh1 |
G |
T |
6: 114,457,193 (GRCm39) |
W158L |
probably damaging |
Het |
| Ighv6-4 |
T |
C |
12: 114,370,294 (GRCm39) |
M53V |
probably benign |
Het |
| Iqgap2 |
T |
A |
13: 95,772,141 (GRCm39) |
D1346V |
probably damaging |
Het |
| Kcng3 |
A |
T |
17: 83,895,166 (GRCm39) |
N433K |
possibly damaging |
Het |
| Kif1a |
T |
A |
1: 92,980,288 (GRCm39) |
|
probably benign |
Het |
| Lctl |
C |
A |
9: 64,026,169 (GRCm39) |
Q75K |
probably benign |
Het |
| Ldb3 |
T |
A |
14: 34,300,608 (GRCm39) |
I89F |
possibly damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,584,378 (GRCm39) |
L156Q |
probably damaging |
Het |
| Mark2 |
G |
T |
19: 7,259,193 (GRCm39) |
T83K |
probably benign |
Het |
| Ms4a15 |
A |
T |
19: 10,957,574 (GRCm39) |
D170E |
probably damaging |
Het |
| Msantd2 |
A |
G |
9: 37,434,056 (GRCm39) |
S99G |
possibly damaging |
Het |
| Nemf |
G |
T |
12: 69,400,577 (GRCm39) |
T124N |
probably benign |
Het |
| Nlrp9c |
A |
T |
7: 26,093,561 (GRCm39) |
F35I |
possibly damaging |
Het |
| Nwd2 |
A |
G |
5: 63,962,116 (GRCm39) |
I567V |
probably benign |
Het |
| Optn |
C |
T |
2: 5,028,926 (GRCm39) |
G526R |
probably damaging |
Het |
| Or11l3 |
T |
C |
11: 58,516,566 (GRCm39) |
Y102C |
probably damaging |
Het |
| Or13p8 |
A |
G |
4: 118,584,367 (GRCm39) |
I308V |
probably null |
Het |
| Or5v1b |
A |
C |
17: 37,841,533 (GRCm39) |
I222L |
probably benign |
Het |
| Or7g16 |
T |
A |
9: 18,727,290 (GRCm39) |
Q100L |
probably damaging |
Het |
| Pdk4 |
T |
C |
6: 5,491,138 (GRCm39) |
E209G |
probably benign |
Het |
| Plch1 |
T |
C |
3: 63,618,399 (GRCm39) |
Q712R |
probably damaging |
Het |
| Pnpla1 |
T |
A |
17: 29,105,852 (GRCm39) |
V569E |
possibly damaging |
Het |
| Prkar2a |
A |
T |
9: 108,596,457 (GRCm39) |
D134V |
probably damaging |
Het |
| Ptov1 |
T |
A |
7: 44,514,046 (GRCm39) |
Q40L |
possibly damaging |
Het |
| Ptprq |
T |
C |
10: 107,544,589 (GRCm39) |
I314V |
probably benign |
Het |
| Rabl2 |
T |
C |
15: 89,468,169 (GRCm39) |
K66E |
probably damaging |
Het |
| Rnf38 |
A |
G |
4: 44,152,507 (GRCm39) |
V19A |
possibly damaging |
Het |
| Scn2a |
T |
A |
2: 65,512,435 (GRCm39) |
W191R |
probably damaging |
Het |
| Sec22b |
T |
A |
3: 97,828,572 (GRCm39) |
F212I |
possibly damaging |
Het |
| Sec24c |
T |
A |
14: 20,738,783 (GRCm39) |
|
probably null |
Het |
| Septin2 |
T |
C |
1: 93,423,321 (GRCm39) |
S51P |
probably damaging |
Het |
| Serpinb1a |
T |
C |
13: 33,032,639 (GRCm39) |
N90S |
probably damaging |
Het |
| Slc1a2 |
C |
T |
2: 102,574,208 (GRCm39) |
T206I |
probably benign |
Het |
| Slc25a19 |
C |
A |
11: 115,515,032 (GRCm39) |
R42L |
probably damaging |
Het |
| St14 |
G |
A |
9: 31,002,620 (GRCm39) |
|
probably benign |
Het |
| Stxbp1 |
C |
T |
2: 32,692,917 (GRCm39) |
|
probably benign |
Het |
| Tas2r131 |
C |
T |
6: 132,934,792 (GRCm39) |
V6I |
probably benign |
Het |
| Tdo2 |
T |
A |
3: 81,871,307 (GRCm39) |
M235L |
probably benign |
Het |
| Tenm3 |
T |
G |
8: 48,685,140 (GRCm39) |
H2432P |
probably damaging |
Het |
| Tmprss15 |
C |
T |
16: 78,821,630 (GRCm39) |
|
probably benign |
Het |
| Tmx1 |
A |
G |
12: 70,500,030 (GRCm39) |
N30D |
probably benign |
Het |
| Tom1 |
A |
G |
8: 75,791,020 (GRCm39) |
|
probably null |
Het |
| Top2a |
T |
C |
11: 98,913,781 (GRCm39) |
N20S |
probably benign |
Het |
| Ttc23l |
T |
A |
15: 10,540,049 (GRCm39) |
T145S |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,236,983 (GRCm39) |
M3351K |
possibly damaging |
Het |
| Vmn1r47 |
T |
C |
6: 89,999,641 (GRCm39) |
S258P |
probably damaging |
Het |
| Vmn2r8 |
T |
G |
5: 108,945,317 (GRCm39) |
|
probably null |
Het |
| Vps11 |
T |
C |
9: 44,265,135 (GRCm39) |
Q641R |
probably null |
Het |
| Wapl |
T |
A |
14: 34,414,281 (GRCm39) |
I381N |
probably damaging |
Het |
| Zmym6 |
G |
A |
4: 127,016,601 (GRCm39) |
G794E |
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 |
|
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 |
|
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'- GAGTCAGCACCTGAAAGCTCTCTTC -3'
(R):5'- ATCAAAGCCAGCAGCTCTAGCG -3'
Sequencing Primer
(F):5'- cagacagacagacagacagac -3'
(R):5'- AGCTCTAGCGGCTCTAGC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation