Incidental Mutation 'R1727:Epg5'
ID |
198290 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epg5
|
Ensembl Gene |
ENSMUSG00000039840 |
Gene Name |
ectopic P-granules 5 autophagy tethering factor |
Synonyms |
5430411K18Rik |
MMRRC Submission |
039759-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.935)
|
Stock # |
R1727 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
77981680-78078228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 78059030 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 1928
(V1928E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038681
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044622]
|
AlphaFold |
Q80TA9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044622
AA Change: V1928E
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000038681 Gene: ENSMUSG00000039840 AA Change: V1928E
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 |
0.3379 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.3%
|
Validation Efficiency |
96% (98/102) |
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: 96 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts6 |
T |
C |
13: 104,565,472 (GRCm39) |
|
probably benign |
Het |
Ak2 |
C |
T |
4: 128,901,556 (GRCm39) |
P159L |
probably damaging |
Het |
Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
Akr1a1 |
A |
G |
4: 116,498,248 (GRCm39) |
L99P |
probably damaging |
Het |
Anxa8 |
T |
A |
14: 33,811,547 (GRCm39) |
M34K |
probably damaging |
Het |
Axl |
T |
G |
7: 25,460,191 (GRCm39) |
D767A |
possibly damaging |
Het |
B430305J03Rik |
A |
G |
3: 61,271,299 (GRCm39) |
|
probably benign |
Het |
Cdh24 |
A |
T |
14: 54,876,095 (GRCm39) |
Y182* |
probably null |
Het |
Cdk5rap2 |
T |
C |
4: 70,190,916 (GRCm39) |
D1043G |
probably benign |
Het |
Cdk5rap2 |
A |
T |
4: 70,208,209 (GRCm39) |
S746T |
possibly damaging |
Het |
Cep120 |
T |
C |
18: 53,860,801 (GRCm39) |
M210V |
probably benign |
Het |
Chga |
C |
T |
12: 102,527,696 (GRCm39) |
H117Y |
possibly damaging |
Het |
Cnga4 |
T |
C |
7: 105,054,961 (GRCm39) |
W79R |
probably damaging |
Het |
Cntnap5b |
C |
T |
1: 100,141,469 (GRCm39) |
T575I |
possibly damaging |
Het |
Col6a3 |
T |
A |
1: 90,724,296 (GRCm39) |
|
probably null |
Het |
Copz2 |
T |
C |
11: 96,744,301 (GRCm39) |
V71A |
probably benign |
Het |
Dennd3 |
G |
T |
15: 73,436,977 (GRCm39) |
R1068L |
possibly damaging |
Het |
Dhrs7 |
T |
C |
12: 72,706,238 (GRCm39) |
T56A |
probably damaging |
Het |
Dnah17 |
G |
A |
11: 117,961,315 (GRCm39) |
T2557I |
probably damaging |
Het |
Dnah17 |
A |
T |
11: 117,987,362 (GRCm39) |
L1320* |
probably null |
Het |
Dynlt2b |
T |
A |
16: 32,241,751 (GRCm39) |
M78K |
probably benign |
Het |
Eif3b |
T |
C |
5: 140,411,077 (GRCm39) |
I176T |
probably damaging |
Het |
Eif4b |
T |
A |
15: 101,998,497 (GRCm39) |
D392E |
possibly damaging |
Het |
Eif4h |
T |
C |
5: 134,668,134 (GRCm39) |
Y7C |
probably damaging |
Het |
Enam |
A |
T |
5: 88,651,853 (GRCm39) |
S1046C |
probably damaging |
Het |
Erbin |
T |
A |
13: 103,964,476 (GRCm39) |
E1222V |
probably benign |
Het |
Fhdc1 |
T |
A |
3: 84,353,483 (GRCm39) |
I581F |
possibly damaging |
Het |
Fhip2b |
C |
A |
14: 70,831,438 (GRCm39) |
G32V |
probably damaging |
Het |
Fstl4 |
A |
C |
11: 52,959,478 (GRCm39) |
Q173P |
probably damaging |
Het |
Gm266 |
A |
G |
12: 111,451,913 (GRCm39) |
F98L |
possibly damaging |
Het |
Gsdmc2 |
T |
C |
15: 63,721,628 (GRCm39) |
|
probably benign |
Het |
Gtf2h3 |
A |
G |
5: 124,728,419 (GRCm39) |
Q156R |
probably benign |
Het |
H2-T23 |
T |
C |
17: 36,342,545 (GRCm39) |
T198A |
possibly damaging |
Het |
Il1r1 |
C |
A |
1: 40,332,424 (GRCm39) |
A68E |
probably benign |
Het |
Kcna7 |
A |
T |
7: 45,058,930 (GRCm39) |
I406F |
possibly damaging |
Het |
Lbr |
A |
G |
1: 181,647,481 (GRCm39) |
I432T |
probably benign |
Het |
Lnx1 |
A |
T |
5: 74,768,577 (GRCm39) |
|
probably null |
Het |
Lrrcc1 |
T |
A |
3: 14,602,423 (GRCm39) |
I50N |
probably damaging |
Het |
Lss |
T |
C |
10: 76,375,678 (GRCm39) |
V237A |
possibly damaging |
Het |
Mcm10 |
A |
G |
2: 5,011,336 (GRCm39) |
F212L |
probably benign |
Het |
Methig1 |
A |
C |
15: 100,251,130 (GRCm39) |
I14L |
probably benign |
Het |
Mrpl41 |
A |
T |
2: 24,864,636 (GRCm39) |
V55E |
probably damaging |
Het |
Mtfp1 |
C |
A |
11: 4,043,982 (GRCm39) |
D83Y |
probably damaging |
Het |
Myh1 |
T |
A |
11: 67,101,292 (GRCm39) |
|
probably benign |
Het |
Myo1e |
T |
C |
9: 70,283,806 (GRCm39) |
F834S |
possibly damaging |
Het |
Ndufs7 |
A |
T |
10: 80,091,853 (GRCm39) |
|
probably benign |
Het |
Nlrp4e |
T |
A |
7: 23,020,420 (GRCm39) |
N302K |
probably benign |
Het |
Nt5e |
T |
A |
9: 88,210,082 (GRCm39) |
M115K |
possibly damaging |
Het |
Nup153 |
A |
T |
13: 46,847,261 (GRCm39) |
C723S |
probably damaging |
Het |
Obox6 |
G |
A |
7: 15,568,502 (GRCm39) |
P125S |
probably benign |
Het |
Or1n2 |
G |
A |
2: 36,797,405 (GRCm39) |
C149Y |
probably benign |
Het |
Or2t48 |
A |
T |
11: 58,420,342 (GRCm39) |
S157T |
possibly damaging |
Het |
Or52n3 |
C |
T |
7: 104,530,721 (GRCm39) |
T269I |
probably benign |
Het |
Or5an11 |
T |
G |
19: 12,246,365 (GRCm39) |
I257S |
possibly damaging |
Het |
Or8i2 |
A |
G |
2: 86,852,607 (GRCm39) |
F94L |
probably damaging |
Het |
Pcdh1 |
A |
C |
18: 38,336,085 (GRCm39) |
Y44* |
probably null |
Het |
Pcdhb6 |
A |
T |
18: 37,467,640 (GRCm39) |
D187V |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,727,001 (GRCm39) |
|
probably benign |
Het |
Pdcl3 |
T |
A |
1: 39,034,836 (GRCm39) |
I80K |
possibly damaging |
Het |
Pde12 |
A |
T |
14: 26,390,022 (GRCm39) |
V229E |
probably benign |
Het |
Plcg1 |
A |
G |
2: 160,590,008 (GRCm39) |
E142G |
probably benign |
Het |
Plxnb1 |
A |
G |
9: 108,930,125 (GRCm39) |
|
probably null |
Het |
Pnpla1 |
A |
G |
17: 29,097,508 (GRCm39) |
I225V |
probably benign |
Het |
Polr2f |
A |
G |
15: 79,028,805 (GRCm39) |
|
probably benign |
Het |
Prob1 |
A |
G |
18: 35,787,364 (GRCm39) |
S297P |
possibly damaging |
Het |
Qsox2 |
A |
C |
2: 26,110,970 (GRCm39) |
S132A |
probably benign |
Het |
Rab19 |
T |
A |
6: 39,365,095 (GRCm39) |
Y118* |
probably null |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Rptn |
T |
C |
3: 93,304,445 (GRCm39) |
S593P |
possibly damaging |
Het |
Septin11 |
T |
C |
5: 93,304,783 (GRCm39) |
I200T |
probably damaging |
Het |
Slc10a4 |
T |
A |
5: 73,173,491 (GRCm39) |
|
probably benign |
Het |
Slc9c1 |
A |
T |
16: 45,422,324 (GRCm39) |
I1130F |
probably benign |
Het |
Slit3 |
C |
T |
11: 35,520,659 (GRCm39) |
R599C |
probably damaging |
Het |
Snx19 |
C |
T |
9: 30,344,662 (GRCm39) |
P622L |
probably damaging |
Het |
Sspo |
T |
C |
6: 48,471,782 (GRCm39) |
L50P |
probably damaging |
Het |
St8sia1 |
A |
T |
6: 142,822,453 (GRCm39) |
C137S |
probably damaging |
Het |
Syt11 |
G |
C |
3: 88,669,259 (GRCm39) |
T211S |
possibly damaging |
Het |
Tanc1 |
A |
C |
2: 59,621,153 (GRCm39) |
Y324S |
probably damaging |
Het |
Tas2r136 |
T |
C |
6: 132,754,753 (GRCm39) |
I125V |
possibly damaging |
Het |
Tbc1d15 |
A |
T |
10: 115,046,130 (GRCm39) |
W458R |
probably damaging |
Het |
Tecta |
G |
T |
9: 42,270,597 (GRCm39) |
T1237N |
probably damaging |
Het |
Tet2 |
T |
A |
3: 133,193,051 (GRCm39) |
D461V |
probably damaging |
Het |
Tmco3 |
G |
A |
8: 13,368,866 (GRCm39) |
V573M |
possibly damaging |
Het |
Tmem212 |
A |
T |
3: 27,938,961 (GRCm39) |
M175K |
probably benign |
Het |
Traf6 |
A |
G |
2: 101,527,084 (GRCm39) |
H278R |
probably benign |
Het |
Trerf1 |
T |
A |
17: 47,652,092 (GRCm39) |
|
noncoding transcript |
Het |
Ttn |
A |
C |
2: 76,576,988 (GRCm39) |
V24635G |
probably damaging |
Het |
Ush1c |
A |
T |
7: 45,858,655 (GRCm39) |
D544E |
probably damaging |
Het |
Usp47 |
C |
T |
7: 111,685,307 (GRCm39) |
T586M |
probably damaging |
Het |
Vmn2r1 |
T |
A |
3: 63,989,163 (GRCm39) |
M34K |
probably benign |
Het |
Vmn2r102 |
T |
A |
17: 19,897,770 (GRCm39) |
W262R |
probably damaging |
Het |
Wasf3 |
C |
T |
5: 146,403,769 (GRCm39) |
A293V |
probably benign |
Het |
Xrn2 |
A |
G |
2: 146,903,436 (GRCm39) |
Q812R |
probably benign |
Het |
Zc3h7b |
T |
C |
15: 81,652,230 (GRCm39) |
I10T |
probably damaging |
Het |
Zfp747 |
A |
T |
7: 126,973,249 (GRCm39) |
L307Q |
probably damaging |
Het |
Zfp777 |
A |
T |
6: 48,020,824 (GRCm39) |
F266Y |
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 |
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'- CGGCCATCTCTTCTAGGTAATGGAGAC -3'
(R):5'- TGGACAACAGATACACACCTCTTTGC -3'
Sequencing Primer
(F):5'- ACGGTACAGTGGCTTTCTGAC -3'
(R):5'- GTGAGTATACGGGCTCACC -3'
|
Posted On |
2014-05-23 |