Incidental Mutation 'R5503:Epg5'
| ID |
430791 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epg5
|
| Ensembl Gene |
ENSMUSG00000039840 |
| Gene Name |
ectopic P-granules 5 autophagy tethering factor |
| Synonyms |
5430411K18Rik |
| MMRRC Submission |
043064-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.935)
|
| Stock # |
R5503 (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 77994422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 351
(M351K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044622]
|
| AlphaFold |
Q80TA9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044622
AA Change: M351K
PolyPhen 2
Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000038681
Gene: ENSMUSG00000039840
AA Change: M351K
| 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 |
0.1413 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.4%
- 10x: 95.4%
- 20x: 91.5%
|
| Validation Efficiency |
96% (103/107) |
| 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 |
|---|
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| Abca6 |
A |
G |
11: 110,109,083 (GRCm39) |
S696P |
probably damaging |
Het |
| Abca9 |
G |
A |
11: 110,032,436 (GRCm39) |
T727M |
probably damaging |
Het |
| Alpk2 |
T |
C |
18: 65,439,312 (GRCm39) |
R1161G |
probably benign |
Het |
| Amy1 |
T |
C |
3: 113,349,709 (GRCm39) |
D487G |
probably benign |
Het |
| Arap2 |
G |
A |
5: 62,787,529 (GRCm39) |
A1409V |
probably damaging |
Het |
| B4galt6 |
C |
A |
18: 20,878,409 (GRCm39) |
|
probably null |
Het |
| Cacna1s |
G |
A |
1: 136,014,480 (GRCm39) |
G382D |
probably damaging |
Het |
| Camk2a |
A |
G |
18: 61,111,072 (GRCm39) |
D87G |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,436,620 (GRCm39) |
Y492C |
probably damaging |
Het |
| Cert1 |
C |
T |
13: 96,679,747 (GRCm39) |
R26C |
possibly damaging |
Het |
| Col18a1 |
C |
T |
10: 76,907,454 (GRCm39) |
G861D |
probably damaging |
Het |
| Crybg1 |
C |
A |
10: 43,874,762 (GRCm39) |
S782I |
probably benign |
Het |
| Csgalnact1 |
G |
A |
8: 68,914,125 (GRCm39) |
L27F |
probably damaging |
Het |
| Dab1 |
T |
A |
4: 104,369,461 (GRCm39) |
C3S |
probably benign |
Het |
| Dapk1 |
T |
C |
13: 60,873,126 (GRCm39) |
F343L |
probably benign |
Het |
| Dgat1 |
A |
T |
15: 76,386,394 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
C |
A |
12: 117,844,186 (GRCm39) |
|
probably null |
Het |
| Dsg2 |
T |
A |
18: 20,713,708 (GRCm39) |
Y226* |
probably null |
Het |
| F13b |
A |
G |
1: 139,450,281 (GRCm39) |
T648A |
probably benign |
Het |
| Fgf17 |
T |
C |
14: 70,874,408 (GRCm39) |
Y127C |
probably damaging |
Het |
| Fkbp15 |
G |
A |
4: 62,246,124 (GRCm39) |
P435S |
probably benign |
Het |
| Gfm1 |
G |
A |
3: 67,361,060 (GRCm39) |
|
probably null |
Het |
| Gigyf1 |
T |
C |
5: 137,521,729 (GRCm39) |
|
probably benign |
Het |
| Gm12830 |
A |
T |
4: 114,678,936 (GRCm39) |
T6S |
unknown |
Het |
| Gm6465 |
A |
T |
5: 11,898,150 (GRCm39) |
N88I |
probably damaging |
Het |
| Gpr18 |
C |
T |
14: 122,149,159 (GRCm39) |
V289I |
probably damaging |
Het |
| Ipp |
G |
T |
4: 116,395,135 (GRCm39) |
E557* |
probably null |
Het |
| Klhl12 |
T |
A |
1: 134,413,653 (GRCm39) |
|
probably null |
Het |
| Klhl38 |
A |
G |
15: 58,185,745 (GRCm39) |
V328A |
possibly damaging |
Het |
| Kndc1 |
A |
G |
7: 139,511,802 (GRCm39) |
T1470A |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,957,939 (GRCm39) |
D2173E |
possibly damaging |
Het |
| Lipi |
T |
C |
16: 75,370,864 (GRCm39) |
K118E |
probably benign |
Het |
| Marf1 |
A |
C |
16: 13,970,095 (GRCm39) |
L208R |
probably damaging |
Het |
| Misp |
G |
A |
10: 79,662,552 (GRCm39) |
R323K |
probably damaging |
Het |
| Mlxip |
T |
A |
5: 123,533,390 (GRCm39) |
M133K |
probably damaging |
Het |
| Mon2 |
A |
T |
10: 122,868,550 (GRCm39) |
M501K |
possibly damaging |
Het |
| Myh2 |
A |
G |
11: 67,064,275 (GRCm39) |
I77V |
probably benign |
Het |
| Napa |
C |
A |
7: 15,849,549 (GRCm39) |
Q254K |
probably benign |
Het |
| Nckap5l |
C |
A |
15: 99,323,503 (GRCm39) |
G1000V |
probably damaging |
Het |
| Neo1 |
A |
T |
9: 58,892,933 (GRCm39) |
S236R |
possibly damaging |
Het |
| Neurl4 |
T |
A |
11: 69,797,194 (GRCm39) |
Y594N |
probably damaging |
Het |
| Nmral1 |
G |
A |
16: 4,533,493 (GRCm39) |
P94L |
probably benign |
Het |
| Notch3 |
A |
T |
17: 32,366,029 (GRCm39) |
I1024N |
probably benign |
Het |
| Nsd1 |
T |
A |
13: 55,393,752 (GRCm39) |
I451K |
probably damaging |
Het |
| Nt5c3b |
T |
C |
11: 100,323,883 (GRCm39) |
D143G |
probably benign |
Het |
| Oplah |
A |
G |
15: 76,189,646 (GRCm39) |
|
probably null |
Het |
| Or13a17 |
A |
C |
7: 140,271,309 (GRCm39) |
M164L |
probably benign |
Het |
| Or2ak4 |
T |
A |
11: 58,649,154 (GRCm39) |
V221E |
probably damaging |
Het |
| Or6b2b |
C |
A |
1: 92,418,918 (GRCm39) |
K186N |
probably benign |
Het |
| Or7d10 |
A |
G |
9: 19,831,675 (GRCm39) |
T57A |
probably benign |
Het |
| Or8b48 |
T |
C |
9: 38,493,368 (GRCm39) |
V265A |
probably benign |
Het |
| Or8g19 |
A |
G |
9: 39,055,780 (GRCm39) |
N128S |
probably benign |
Het |
| Phb2 |
T |
A |
6: 124,689,985 (GRCm39) |
|
probably benign |
Het |
| Plcl2 |
A |
G |
17: 50,816,957 (GRCm39) |
I108V |
probably benign |
Het |
| Plpp6 |
T |
A |
19: 28,942,146 (GRCm39) |
M249K |
probably damaging |
Het |
| Pnpt1 |
G |
A |
11: 29,088,156 (GRCm39) |
G189E |
probably damaging |
Het |
| Pramel17 |
A |
T |
4: 101,692,999 (GRCm39) |
Y334N |
probably benign |
Het |
| Ptprn |
C |
T |
1: 75,228,519 (GRCm39) |
V853M |
probably damaging |
Het |
| Ptprq |
T |
C |
10: 107,524,189 (GRCm39) |
|
probably null |
Het |
| Rai1 |
G |
A |
11: 60,077,279 (GRCm39) |
V448I |
probably benign |
Het |
| Rbm20 |
T |
A |
19: 53,839,785 (GRCm39) |
C925S |
possibly damaging |
Het |
| Rin3 |
C |
A |
12: 102,279,314 (GRCm39) |
P41Q |
probably benign |
Het |
| Rpl31-ps21 |
T |
C |
5: 21,324,505 (GRCm39) |
|
noncoding transcript |
Het |
| Rpl39-ps |
A |
T |
15: 102,543,561 (GRCm39) |
|
noncoding transcript |
Het |
| Rtn4ip1 |
T |
A |
10: 43,783,879 (GRCm39) |
D133E |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,768,453 (GRCm39) |
K2839E |
possibly damaging |
Het |
| Septin5 |
T |
C |
16: 18,442,118 (GRCm39) |
K268R |
probably benign |
Het |
| Serpinb6b |
T |
A |
13: 33,161,642 (GRCm39) |
D238E |
possibly damaging |
Het |
| Slc15a2 |
C |
T |
16: 36,582,747 (GRCm39) |
V214M |
probably damaging |
Het |
| Smarca2 |
T |
C |
19: 26,601,336 (GRCm39) |
M18T |
probably damaging |
Het |
| Smarca2 |
C |
A |
19: 26,659,446 (GRCm39) |
T912K |
possibly damaging |
Het |
| Smdt1 |
A |
T |
15: 82,232,101 (GRCm39) |
R46S |
possibly damaging |
Het |
| Spa17 |
A |
C |
9: 37,523,273 (GRCm39) |
F5V |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 99,934,560 (GRCm39) |
E614G |
possibly damaging |
Het |
| Sstr4 |
CGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
2: 148,237,471 (GRCm39) |
|
probably benign |
Het |
| Tlr1 |
A |
T |
5: 65,083,635 (GRCm39) |
V314D |
probably damaging |
Het |
| Trappc8 |
A |
T |
18: 20,969,957 (GRCm39) |
L1011Q |
probably benign |
Het |
| Tsga10 |
A |
G |
1: 37,800,028 (GRCm39) |
*691Q |
probably null |
Het |
| Vav1 |
A |
T |
17: 57,610,079 (GRCm39) |
K420* |
probably null |
Het |
| Vmn1r174 |
C |
G |
7: 23,453,562 (GRCm39) |
T76R |
probably benign |
Het |
| Vmn2r116 |
A |
G |
17: 23,605,778 (GRCm39) |
E230G |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,452,312 (GRCm39) |
T637A |
probably damaging |
Het |
| Zbtb7a |
A |
G |
10: 80,980,631 (GRCm39) |
E275G |
probably damaging |
Het |
| Zfp280b |
A |
G |
10: 75,875,296 (GRCm39) |
|
probably null |
Het |
| Zfp763 |
A |
G |
17: 33,238,507 (GRCm39) |
Y213H |
possibly damaging |
Het |
| Zfp78 |
T |
A |
7: 6,381,528 (GRCm39) |
W161R |
probably benign |
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 |
|
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'- CCCACTGTGTCCTATGTACAGTG -3'
(R):5'- GGAAGCTGTCACTGCTTACG -3'
Sequencing Primer
(F):5'- TATGTACAGTGTTGGCCCCCG -3'
(R):5'- GGTCTGCCTGATAAACTGCTAAAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation