Incidental Mutation 'R7414:Epg5'
| ID |
575346 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epg5
|
| Ensembl Gene |
ENSMUSG00000039840 |
| Gene Name |
ectopic P-granules 5 autophagy tethering factor |
| Synonyms |
5430411K18Rik |
| MMRRC Submission |
045494-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.935)
|
| Stock # |
R7414 (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 78026747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 1246
(R1246L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044622]
|
| AlphaFold |
Q80TA9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044622
AA Change: R1246L
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000038681
Gene: ENSMUSG00000039840
AA Change: R1246L
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (98/101) |
| 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: 101 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082I17Rik |
G |
A |
5: 139,349,779 (GRCm39) |
T90M |
probably damaging |
Het |
| Abca4 |
T |
A |
3: 121,896,387 (GRCm39) |
S540T |
probably benign |
Het |
| Adcy4 |
G |
A |
14: 56,019,090 (GRCm39) |
L156F |
probably benign |
Het |
| Adcyap1 |
T |
A |
17: 93,510,256 (GRCm39) |
L95M |
probably damaging |
Het |
| Ahctf1 |
T |
C |
1: 179,611,670 (GRCm39) |
T567A |
probably benign |
Het |
| Ankrd26 |
T |
C |
6: 118,485,741 (GRCm39) |
I1378V |
possibly damaging |
Het |
| Ankrd44 |
T |
A |
1: 54,706,539 (GRCm39) |
H639L |
probably damaging |
Het |
| Arfrp1 |
C |
T |
2: 181,001,307 (GRCm39) |
R189Q |
possibly damaging |
Het |
| Astn2 |
T |
C |
4: 65,459,193 (GRCm39) |
D1126G |
possibly damaging |
Het |
| Bap1 |
G |
C |
14: 30,975,572 (GRCm39) |
G139R |
probably benign |
Het |
| Bms1 |
C |
T |
6: 118,360,706 (GRCm39) |
R1254Q |
possibly damaging |
Het |
| Ceacam15 |
A |
G |
7: 16,407,235 (GRCm39) |
V94A |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Cip2a |
T |
C |
16: 48,821,998 (GRCm39) |
F209L |
probably benign |
Het |
| Clec2m |
T |
C |
6: 129,302,596 (GRCm39) |
T144A |
probably benign |
Het |
| Clock |
T |
C |
5: 76,410,611 (GRCm39) |
T87A |
probably benign |
Het |
| Cntrl |
A |
T |
2: 35,055,479 (GRCm39) |
I1706L |
probably benign |
Het |
| Cr2 |
C |
A |
1: 194,832,344 (GRCm39) |
V981L |
probably benign |
Het |
| Cxcr6 |
G |
A |
9: 123,639,287 (GRCm39) |
W103* |
probably null |
Het |
| Dld |
A |
T |
12: 31,385,525 (GRCm39) |
F272Y |
probably damaging |
Het |
| Dmrt2 |
T |
A |
19: 25,650,950 (GRCm39) |
D45E |
probably benign |
Het |
| Eif2a |
T |
A |
3: 58,433,502 (GRCm39) |
L8* |
probably null |
Het |
| Ets1 |
T |
A |
9: 32,664,153 (GRCm39) |
C350* |
probably null |
Het |
| Fam135b |
C |
T |
15: 71,350,105 (GRCm39) |
R345Q |
probably damaging |
Het |
| Fbn2 |
C |
T |
18: 58,229,122 (GRCm39) |
R696H |
probably damaging |
Het |
| Gbf1 |
C |
A |
19: 46,271,797 (GRCm39) |
Y159* |
probably null |
Het |
| Gcsam |
T |
C |
16: 45,437,301 (GRCm39) |
|
probably null |
Het |
| Gmpr2 |
G |
T |
14: 55,910,259 (GRCm39) |
|
probably null |
Het |
| H2-T3 |
C |
A |
17: 36,498,275 (GRCm39) |
V257L |
not run |
Het |
| Hadha |
A |
G |
5: 30,331,610 (GRCm39) |
F449L |
possibly damaging |
Het |
| Haus3 |
T |
A |
5: 34,323,477 (GRCm39) |
I378L |
probably benign |
Het |
| Hdac7 |
T |
A |
15: 97,706,392 (GRCm39) |
H272L |
probably benign |
Het |
| Icam5 |
T |
C |
9: 20,948,889 (GRCm39) |
V747A |
probably damaging |
Het |
| Ifrd2 |
G |
A |
9: 107,467,370 (GRCm39) |
V81M |
possibly damaging |
Het |
| Insyn2a |
G |
T |
7: 134,519,738 (GRCm39) |
A264D |
probably benign |
Het |
| Ipcef1 |
G |
T |
10: 6,840,673 (GRCm39) |
C345* |
probably null |
Het |
| Ipmk |
T |
A |
10: 71,217,124 (GRCm39) |
F223I |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,274,706 (GRCm39) |
N825K |
probably benign |
Het |
| Itprid2 |
A |
G |
2: 79,475,072 (GRCm39) |
K344E |
possibly damaging |
Het |
| Kazn |
G |
A |
4: 141,836,649 (GRCm39) |
T530I |
|
Het |
| Kmt2d |
C |
T |
15: 98,737,737 (GRCm39) |
V5120M |
unknown |
Het |
| Krt6b |
T |
G |
15: 101,587,449 (GRCm39) |
D215A |
probably benign |
Het |
| Lgals12 |
T |
C |
19: 7,581,335 (GRCm39) |
K124R |
probably damaging |
Het |
| Lpar6 |
T |
A |
14: 73,476,240 (GRCm39) |
V67D |
probably damaging |
Het |
| Lrch3 |
T |
C |
16: 32,818,883 (GRCm39) |
Y661H |
probably damaging |
Het |
| Lrrc32 |
A |
T |
7: 98,149,201 (GRCm39) |
Q660H |
probably benign |
Het |
| Lurap1l |
T |
A |
4: 80,871,991 (GRCm39) |
H161Q |
probably benign |
Het |
| Map3k19 |
A |
G |
1: 127,766,189 (GRCm39) |
I245T |
probably damaging |
Het |
| Mcf2l |
T |
A |
8: 13,069,022 (GRCm39) |
*1119K |
probably null |
Het |
| Mertk |
C |
A |
2: 128,571,313 (GRCm39) |
A89E |
possibly damaging |
Het |
| Mical3 |
A |
T |
6: 121,011,074 (GRCm39) |
Y375N |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,374,309 (GRCm39) |
D121E |
|
Het |
| N4bp2l1 |
T |
A |
5: 150,499,758 (GRCm39) |
N116I |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,233,756 (GRCm39) |
|
probably null |
Het |
| Nlrp12 |
A |
T |
7: 3,289,977 (GRCm39) |
D178E |
probably benign |
Het |
| Nt5c2 |
C |
A |
19: 46,878,328 (GRCm39) |
G444C |
probably damaging |
Het |
| Or10g7 |
T |
A |
9: 39,905,349 (GRCm39) |
M81K |
possibly damaging |
Het |
| Or2f1b |
T |
A |
6: 42,739,762 (GRCm39) |
Y259N |
probably damaging |
Het |
| Or8b48 |
T |
C |
9: 38,492,764 (GRCm39) |
F64L |
probably benign |
Het |
| Pdcl2 |
A |
C |
5: 76,460,359 (GRCm39) |
S220A |
possibly damaging |
Het |
| Pip5kl1 |
T |
C |
2: 32,468,247 (GRCm39) |
S138P |
possibly damaging |
Het |
| Pkd1l1 |
A |
T |
11: 8,866,267 (GRCm39) |
N979K |
|
Het |
| Prkcb |
A |
T |
7: 122,167,450 (GRCm39) |
T387S |
possibly damaging |
Het |
| Pxdc1 |
A |
G |
13: 34,821,135 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
C |
T |
7: 109,913,271 (GRCm39) |
E1668K |
possibly damaging |
Het |
| Sec16a |
T |
G |
2: 26,313,643 (GRCm39) |
T455P |
|
Het |
| Sec24b |
C |
A |
3: 129,803,514 (GRCm39) |
V412F |
probably benign |
Het |
| Serpina3b |
A |
G |
12: 104,099,145 (GRCm39) |
N220S |
probably benign |
Het |
| Sgip1 |
C |
T |
4: 102,824,821 (GRCm39) |
Q581* |
probably null |
Het |
| Shf |
A |
T |
2: 122,190,063 (GRCm39) |
I175N |
possibly damaging |
Het |
| Slc16a10 |
G |
A |
10: 40,017,992 (GRCm39) |
T14M |
probably benign |
Het |
| Slc22a4 |
A |
T |
11: 53,888,254 (GRCm39) |
M258K |
probably benign |
Het |
| Slfn8 |
A |
T |
11: 82,907,618 (GRCm39) |
Y308* |
probably null |
Het |
| Slfnl1 |
T |
C |
4: 120,392,451 (GRCm39) |
Y249H |
probably damaging |
Het |
| Smchd1 |
T |
C |
17: 71,782,074 (GRCm39) |
Y29C |
probably damaging |
Het |
| Snai1 |
C |
A |
2: 167,380,588 (GRCm39) |
|
probably null |
Het |
| Sntg1 |
T |
C |
1: 8,518,289 (GRCm39) |
Y368C |
probably damaging |
Het |
| Snx33 |
C |
T |
9: 56,833,151 (GRCm39) |
R306H |
probably damaging |
Het |
| Spop |
G |
A |
11: 95,365,334 (GRCm39) |
V126M |
probably damaging |
Het |
| Taar3 |
A |
T |
10: 23,825,715 (GRCm39) |
Y87F |
probably damaging |
Het |
| Tarm1 |
C |
A |
7: 3,545,318 (GRCm39) |
M177I |
probably benign |
Het |
| Tcerg1l |
A |
G |
7: 137,819,786 (GRCm39) |
F485L |
probably damaging |
Het |
| Thsd7b |
A |
T |
1: 129,556,717 (GRCm39) |
I435F |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,464,388 (GRCm39) |
D39G |
possibly damaging |
Het |
| Tigd4 |
T |
C |
3: 84,501,128 (GRCm39) |
V15A |
probably benign |
Het |
| Tll2 |
T |
C |
19: 41,092,268 (GRCm39) |
D523G |
probably damaging |
Het |
| Tmem117 |
A |
G |
15: 94,612,776 (GRCm39) |
D104G |
probably damaging |
Het |
| Tmem132b |
T |
C |
5: 125,864,555 (GRCm39) |
L887P |
probably damaging |
Het |
| Tnfrsf26 |
A |
T |
7: 143,168,642 (GRCm39) |
V132D |
probably damaging |
Het |
| Tomt |
T |
A |
7: 101,549,715 (GRCm39) |
D191V |
probably damaging |
Het |
| Ttc39b |
T |
C |
4: 83,160,459 (GRCm39) |
M373V |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,568,493 (GRCm39) |
P27467S |
possibly damaging |
Het |
| Ttn |
A |
C |
2: 76,573,130 (GRCm39) |
V25921G |
probably damaging |
Het |
| Ubxn2a |
A |
C |
12: 4,941,381 (GRCm39) |
V75G |
probably damaging |
Het |
| Uchl5 |
A |
T |
1: 143,682,433 (GRCm39) |
K319N |
unknown |
Het |
| Ugt2b1 |
T |
C |
5: 87,073,693 (GRCm39) |
D222G |
probably damaging |
Het |
| Vmn1r213 |
A |
G |
13: 23,195,446 (GRCm39) |
I10V |
unknown |
Het |
| Vps13b |
T |
C |
15: 35,910,973 (GRCm39) |
I3579T |
probably damaging |
Het |
| Xpo5 |
T |
A |
17: 46,532,295 (GRCm39) |
H443Q |
probably benign |
Het |
| Zfp316 |
A |
G |
5: 143,250,407 (GRCm39) |
M2T |
unknown |
Het |
| Zscan4-ps2 |
A |
G |
7: 11,251,359 (GRCm39) |
T160A |
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 |
|
|
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 |
|
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'- GCTTGAGACCTGCATGCATG -3'
(R):5'- GAAGCTGAACAGTACTAAACCTTC -3'
Sequencing Primer
(F):5'- CTAGGCAAATGCTGTTTCACTGAGC -3'
(R):5'- TGAACAGTACTAAACCTTCACAGTAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation