Incidental Mutation 'R4666:Epg5'
| ID |
351984 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epg5
|
| Ensembl Gene |
ENSMUSG00000039840 |
| Gene Name |
ectopic P-granules 5 autophagy tethering factor |
| Synonyms |
5430411K18Rik |
| MMRRC Submission |
041924-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.937)
|
| Stock # |
R4666 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
77981680-78078228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78056079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 1751
(N1751S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044622]
|
| AlphaFold |
Q80TA9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044622
AA Change: N1751S
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000038681
Gene: ENSMUSG00000039840
AA Change: N1751S
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| 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: 100 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410137M14Rik |
G |
A |
17: 37,289,794 (GRCm39) |
S12L |
probably benign |
Het |
| Abce1 |
A |
G |
8: 80,414,115 (GRCm39) |
V532A |
probably damaging |
Het |
| Adamts12 |
T |
A |
15: 11,311,578 (GRCm39) |
N1278K |
probably benign |
Het |
| Adipor1 |
T |
A |
1: 134,352,643 (GRCm39) |
I138N |
probably damaging |
Het |
| Aox1 |
C |
T |
1: 58,343,756 (GRCm39) |
Q480* |
probably null |
Het |
| Arhgef38 |
C |
T |
3: 132,846,533 (GRCm39) |
|
probably null |
Het |
| Atmin |
A |
G |
8: 117,684,698 (GRCm39) |
D786G |
probably damaging |
Het |
| Bltp3a |
G |
T |
17: 28,112,477 (GRCm39) |
W1222L |
possibly damaging |
Het |
| Capn1 |
A |
T |
19: 6,061,045 (GRCm39) |
N253K |
probably benign |
Het |
| Cdh8 |
T |
C |
8: 99,751,534 (GRCm39) |
T728A |
possibly damaging |
Het |
| Celsr1 |
A |
G |
15: 85,914,695 (GRCm39) |
S1093P |
probably damaging |
Het |
| Cep135 |
C |
A |
5: 76,764,701 (GRCm39) |
P560T |
probably benign |
Het |
| Chfr |
C |
T |
5: 110,292,733 (GRCm39) |
Q167* |
probably null |
Het |
| Chrna4 |
A |
G |
2: 180,679,286 (GRCm39) |
S54P |
probably damaging |
Het |
| Cntln |
A |
G |
4: 84,889,453 (GRCm39) |
N312S |
probably benign |
Het |
| Cntn6 |
A |
G |
6: 104,705,245 (GRCm39) |
E154G |
probably benign |
Het |
| Col6a6 |
T |
A |
9: 105,644,541 (GRCm39) |
Y1249F |
possibly damaging |
Het |
| Cpsf2 |
T |
C |
12: 101,949,466 (GRCm39) |
S61P |
probably damaging |
Het |
| Cpvl |
C |
T |
6: 53,908,918 (GRCm39) |
E282K |
probably benign |
Het |
| Cryba2 |
C |
T |
1: 74,929,207 (GRCm39) |
D179N |
probably benign |
Het |
| Daglb |
A |
T |
5: 143,489,104 (GRCm39) |
R654W |
probably damaging |
Het |
| Dennd3 |
A |
G |
15: 73,442,709 (GRCm39) |
D1244G |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,582,390 (GRCm39) |
E405G |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,905,536 (GRCm39) |
M4060T |
possibly damaging |
Het |
| Dph1 |
A |
G |
11: 75,072,156 (GRCm39) |
S238P |
probably damaging |
Het |
| Duox1 |
C |
T |
2: 122,149,956 (GRCm39) |
P116S |
probably benign |
Het |
| Ebf1 |
A |
G |
11: 44,882,384 (GRCm39) |
N447D |
probably damaging |
Het |
| Exoc6 |
A |
G |
19: 37,558,953 (GRCm39) |
D75G |
probably damaging |
Het |
| Extl2 |
T |
A |
3: 115,817,856 (GRCm39) |
I70N |
probably damaging |
Het |
| Fanca |
T |
C |
8: 123,995,711 (GRCm39) |
T1364A |
probably damaging |
Het |
| Fbln7 |
T |
A |
2: 128,736,830 (GRCm39) |
|
probably null |
Het |
| Foxa3 |
G |
T |
7: 18,748,297 (GRCm39) |
C275* |
probably null |
Het |
| Foxred1 |
C |
T |
9: 35,122,151 (GRCm39) |
|
probably benign |
Het |
| Galr2 |
A |
G |
11: 116,174,455 (GRCm39) |
T362A |
probably benign |
Het |
| Garem2 |
C |
A |
5: 30,319,665 (GRCm39) |
R376S |
probably damaging |
Het |
| Garre1 |
T |
C |
7: 33,984,198 (GRCm39) |
M142V |
probably damaging |
Het |
| Gatc |
T |
A |
5: 115,473,606 (GRCm39) |
N111I |
probably benign |
Het |
| Gjb4 |
C |
A |
4: 127,245,571 (GRCm39) |
K123N |
probably damaging |
Het |
| Gm9894 |
T |
C |
13: 67,913,213 (GRCm39) |
|
noncoding transcript |
Het |
| Gtdc1 |
T |
C |
2: 44,481,937 (GRCm39) |
N301S |
probably benign |
Het |
| Gtf2ird1 |
T |
A |
5: 134,412,756 (GRCm39) |
E55V |
probably damaging |
Het |
| Gtsf1 |
T |
C |
15: 103,329,632 (GRCm39) |
I96V |
probably benign |
Het |
| Homer1 |
T |
A |
13: 93,538,667 (GRCm39) |
I170N |
probably damaging |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Hoxb9 |
A |
G |
11: 96,165,657 (GRCm39) |
K242R |
possibly damaging |
Het |
| Ifna14 |
T |
C |
4: 88,489,573 (GRCm39) |
R155G |
probably benign |
Het |
| Lrrc7 |
GAAGTTGTTTGGAGATTCTTATCTTA |
GA |
3: 158,024,045 (GRCm39) |
|
probably benign |
Het |
| Lsm11 |
A |
G |
11: 45,824,640 (GRCm39) |
S296P |
probably damaging |
Het |
| Macrod2 |
T |
C |
2: 142,059,519 (GRCm39) |
L265P |
probably damaging |
Het |
| Mcu |
G |
A |
10: 59,292,521 (GRCm39) |
L53F |
probably damaging |
Het |
| Mpv17l2 |
A |
G |
8: 71,213,061 (GRCm39) |
V104A |
possibly damaging |
Het |
| Myh10 |
G |
A |
11: 68,692,556 (GRCm39) |
|
probably null |
Het |
| Nemf |
T |
C |
12: 69,359,054 (GRCm39) |
E1031G |
probably damaging |
Het |
| Nhsl1 |
G |
A |
10: 18,407,153 (GRCm39) |
S1395N |
probably damaging |
Het |
| Niban3 |
G |
T |
8: 72,056,469 (GRCm39) |
E390* |
probably null |
Het |
| Nlrp2 |
T |
A |
7: 5,322,188 (GRCm39) |
I82F |
probably benign |
Het |
| Nlrp4e |
T |
A |
7: 23,036,205 (GRCm39) |
L686* |
probably null |
Het |
| Nudt12os |
T |
A |
17: 59,331,546 (GRCm39) |
|
noncoding transcript |
Het |
| Or10ag57 |
T |
A |
2: 87,218,220 (GRCm39) |
I57K |
probably damaging |
Het |
| Or10j5 |
G |
A |
1: 172,785,157 (GRCm39) |
S265N |
probably benign |
Het |
| Or2h1b |
A |
T |
17: 37,462,270 (GRCm39) |
S44T |
possibly damaging |
Het |
| Or5ac23 |
A |
G |
16: 59,149,573 (GRCm39) |
Y100H |
possibly damaging |
Het |
| Or5k16 |
T |
C |
16: 58,736,947 (GRCm39) |
D19G |
probably benign |
Het |
| Or8g27 |
T |
A |
9: 39,129,142 (GRCm39) |
M163K |
probably damaging |
Het |
| Pde7a |
T |
C |
3: 19,314,420 (GRCm39) |
T59A |
probably damaging |
Het |
| Pde7b |
A |
C |
10: 20,314,496 (GRCm39) |
D203E |
probably damaging |
Het |
| Phkg2 |
T |
A |
7: 127,177,156 (GRCm39) |
I94N |
possibly damaging |
Het |
| Pik3r2 |
G |
A |
8: 71,221,503 (GRCm39) |
T667I |
possibly damaging |
Het |
| Pitx3 |
T |
A |
19: 46,125,540 (GRCm39) |
H68L |
possibly damaging |
Het |
| Prcd |
A |
G |
11: 116,558,990 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
C |
T |
19: 17,097,552 (GRCm39) |
R1019* |
probably null |
Het |
| Psap |
A |
G |
10: 60,136,324 (GRCm39) |
D486G |
probably benign |
Het |
| Purb |
A |
T |
11: 6,425,615 (GRCm39) |
V91E |
probably damaging |
Het |
| Recql |
C |
A |
6: 142,322,567 (GRCm39) |
V112F |
probably damaging |
Het |
| Rptor |
A |
T |
11: 119,634,708 (GRCm39) |
I175F |
probably damaging |
Het |
| Sbf1 |
C |
T |
15: 89,179,449 (GRCm39) |
V1385M |
probably damaging |
Het |
| Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
| Slc35f6 |
T |
C |
5: 30,812,957 (GRCm39) |
L37P |
probably damaging |
Het |
| Slc6a3 |
T |
A |
13: 73,686,700 (GRCm39) |
N22K |
possibly damaging |
Het |
| Sorl1 |
A |
T |
9: 41,915,347 (GRCm39) |
M1294K |
probably damaging |
Het |
| Sp6 |
C |
A |
11: 96,912,701 (GRCm39) |
A138E |
probably benign |
Het |
| Spag8 |
G |
T |
4: 43,653,408 (GRCm39) |
|
probably benign |
Het |
| Spmip4 |
G |
T |
6: 50,572,808 (GRCm39) |
T35K |
possibly damaging |
Het |
| Spon1 |
T |
A |
7: 113,628,204 (GRCm39) |
M320K |
probably benign |
Het |
| Tceanc2 |
A |
T |
4: 107,022,757 (GRCm39) |
S77T |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,337,313 (GRCm39) |
T1235S |
possibly damaging |
Het |
| Thsd7a |
T |
A |
6: 12,504,012 (GRCm39) |
I381F |
possibly damaging |
Het |
| Tmc4 |
T |
C |
7: 3,674,270 (GRCm39) |
|
probably null |
Het |
| Tmprss11d |
T |
C |
5: 86,457,260 (GRCm39) |
D133G |
probably damaging |
Het |
| Trav13n-3 |
T |
A |
14: 53,574,953 (GRCm39) |
V65D |
probably damaging |
Het |
| Trpm1 |
G |
T |
7: 63,852,782 (GRCm39) |
L65F |
probably damaging |
Het |
| Tyk2 |
C |
T |
9: 21,025,503 (GRCm39) |
A741T |
probably damaging |
Het |
| Ube2v1 |
T |
A |
2: 167,452,297 (GRCm39) |
Y102F |
probably damaging |
Het |
| Uckl1 |
A |
T |
2: 181,216,661 (GRCm39) |
S95T |
possibly damaging |
Het |
| Vcan |
C |
A |
13: 89,828,053 (GRCm39) |
W2171L |
probably damaging |
Het |
| Vinac1 |
T |
C |
2: 128,880,150 (GRCm39) |
H592R |
probably benign |
Het |
| Vmn1r64 |
T |
C |
7: 5,887,357 (GRCm39) |
N62S |
probably damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,799,831 (GRCm39) |
D469G |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,640,690 (GRCm39) |
S1352G |
probably benign |
Het |
| Zbtb38 |
C |
T |
9: 96,570,436 (GRCm39) |
R216H |
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 |
|
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'- ACCAGGTGTTTGTTAGCGGC -3'
(R):5'- AGAAAGCCTGGGATGTGATC -3'
Sequencing Primer
(F):5'- TGTTAGCGGCACTAAGTCC -3'
(R):5'- CACACTATGTGCAATGAGACTGTC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation