Incidental Mutation 'R5114:Epg5'
| ID |
394131 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epg5
|
| Ensembl Gene |
ENSMUSG00000039840 |
| Gene Name |
ectopic P-granules 5 autophagy tethering factor |
| Synonyms |
5430411K18Rik |
| MMRRC Submission |
042702-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.937)
|
| Stock # |
R5114 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
77981680-78078228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 78038828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 1519
(A1519T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044622]
|
| AlphaFold |
Q80TA9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044622
AA Change: A1519T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000038681
Gene: ENSMUSG00000039840
AA Change: A1519T
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
99% (93/94) |
| 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 |
|---|
| 5830454E08Rik |
T |
A |
9: 120,406,693 (GRCm39) |
|
probably benign |
Het |
| Ada |
G |
A |
2: 163,572,406 (GRCm39) |
R225C |
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,867,254 (GRCm39) |
K625R |
probably benign |
Het |
| Ano1 |
T |
C |
7: 144,210,820 (GRCm39) |
I182V |
possibly damaging |
Het |
| Aoc1l2 |
A |
T |
6: 48,908,292 (GRCm39) |
M431L |
probably benign |
Het |
| Aox4 |
T |
C |
1: 58,285,445 (GRCm39) |
V643A |
possibly damaging |
Het |
| Arcn1 |
T |
C |
9: 44,671,441 (GRCm39) |
I29V |
probably benign |
Het |
| Arhgap15 |
A |
G |
2: 43,670,630 (GRCm39) |
T5A |
probably benign |
Het |
| Asb10 |
A |
T |
5: 24,745,740 (GRCm39) |
L62Q |
probably damaging |
Het |
| Atp23 |
T |
A |
10: 126,723,403 (GRCm39) |
H233L |
possibly damaging |
Het |
| Bglap2 |
C |
T |
3: 88,289,432 (GRCm39) |
|
probably benign |
Het |
| Carnmt1 |
T |
C |
19: 18,655,098 (GRCm39) |
S84P |
probably damaging |
Het |
| Ccdc152 |
A |
G |
15: 3,312,319 (GRCm39) |
I180T |
probably damaging |
Het |
| Cdr2l |
T |
C |
11: 115,284,186 (GRCm39) |
F174S |
probably damaging |
Het |
| Celsr2 |
C |
T |
3: 108,301,312 (GRCm39) |
V2695I |
probably benign |
Het |
| Chd1 |
C |
A |
17: 15,948,460 (GRCm39) |
S127R |
probably benign |
Het |
| Chmp4c |
T |
A |
3: 10,450,646 (GRCm39) |
F75L |
probably benign |
Het |
| Col13a1 |
A |
C |
10: 61,725,880 (GRCm39) |
V260G |
possibly damaging |
Het |
| Col5a1 |
A |
G |
2: 27,915,664 (GRCm39) |
N183D |
probably damaging |
Het |
| Cpn1 |
C |
T |
19: 43,974,634 (GRCm39) |
V32M |
probably damaging |
Het |
| Cxcl1 |
A |
G |
5: 91,039,373 (GRCm39) |
M39V |
probably benign |
Het |
| Dpep2 |
T |
A |
8: 106,712,825 (GRCm39) |
D455V |
probably damaging |
Het |
| Dpp7 |
G |
A |
2: 25,242,749 (GRCm39) |
T441I |
possibly damaging |
Het |
| Dst |
C |
A |
1: 34,241,640 (GRCm39) |
H4001N |
probably damaging |
Het |
| Esrp2 |
C |
T |
8: 106,858,820 (GRCm39) |
V606I |
probably benign |
Het |
| Fbxo40 |
T |
C |
16: 36,789,236 (GRCm39) |
K625E |
probably damaging |
Het |
| Gbp2b |
A |
T |
3: 142,303,946 (GRCm39) |
I14F |
probably damaging |
Het |
| Gpr37l1 |
G |
T |
1: 135,094,676 (GRCm39) |
F189L |
probably damaging |
Het |
| Heatr5a |
G |
A |
12: 52,003,020 (GRCm39) |
Q161* |
probably null |
Het |
| Hspa4l |
T |
C |
3: 40,700,197 (GRCm39) |
Y30H |
possibly damaging |
Het |
| Hspg2 |
G |
A |
4: 137,239,237 (GRCm39) |
C388Y |
probably damaging |
Het |
| Kcna1 |
A |
G |
6: 126,619,330 (GRCm39) |
I330T |
probably damaging |
Het |
| Klhl3 |
T |
A |
13: 58,166,781 (GRCm39) |
Y350F |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,919,118 (GRCm39) |
|
probably null |
Het |
| Krtap10-4 |
A |
T |
10: 77,662,520 (GRCm39) |
C109* |
probably null |
Het |
| Lrch4 |
T |
C |
5: 137,636,179 (GRCm39) |
S377P |
probably benign |
Het |
| Lrrc8c |
C |
A |
5: 105,755,349 (GRCm39) |
H375N |
probably damaging |
Het |
| Lsg1 |
T |
C |
16: 30,380,538 (GRCm39) |
E633G |
probably damaging |
Het |
| Mcoln1 |
T |
C |
8: 3,560,697 (GRCm39) |
|
probably benign |
Het |
| Med12l |
C |
A |
3: 59,167,109 (GRCm39) |
T1523K |
possibly damaging |
Het |
| Mrps27 |
A |
T |
13: 99,547,973 (GRCm39) |
|
probably benign |
Het |
| Mzb1 |
T |
A |
18: 35,780,717 (GRCm39) |
Y158F |
probably benign |
Het |
| Nat8l |
T |
A |
5: 34,155,823 (GRCm39) |
C160S |
probably damaging |
Het |
| Ncf4 |
T |
C |
15: 78,146,593 (GRCm39) |
|
probably benign |
Het |
| Or1b1 |
A |
T |
2: 36,994,814 (GRCm39) |
Y283N |
probably damaging |
Het |
| Or1o3 |
T |
C |
17: 37,573,730 (GRCm39) |
Y275C |
probably damaging |
Het |
| Pak2 |
T |
A |
16: 31,861,936 (GRCm39) |
|
probably benign |
Het |
| Pcdhga12 |
T |
C |
18: 37,901,160 (GRCm39) |
I664T |
probably benign |
Het |
| Pcnx2 |
A |
C |
8: 126,564,749 (GRCm39) |
L1048R |
possibly damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,652,949 (GRCm39) |
M246V |
probably damaging |
Het |
| Pkd2l2 |
T |
A |
18: 34,566,355 (GRCm39) |
V522D |
probably benign |
Het |
| Plekhh1 |
A |
T |
12: 79,115,880 (GRCm39) |
M808L |
probably benign |
Het |
| Plpp2 |
C |
A |
10: 79,362,973 (GRCm39) |
R157L |
probably benign |
Het |
| Plrg1 |
T |
A |
3: 82,978,558 (GRCm39) |
H441Q |
probably benign |
Het |
| Pnpla6 |
T |
C |
8: 3,572,613 (GRCm39) |
V300A |
probably damaging |
Het |
| Ptprb |
A |
T |
10: 116,184,088 (GRCm39) |
K1633N |
possibly damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,659,508 (GRCm39) |
V2004A |
possibly damaging |
Het |
| Rasd1 |
G |
T |
11: 59,854,933 (GRCm39) |
S182R |
possibly damaging |
Het |
| Rc3h2 |
A |
T |
2: 37,288,373 (GRCm39) |
|
probably null |
Het |
| Rrp1b |
T |
A |
17: 32,255,445 (GRCm39) |
|
probably benign |
Het |
| Ruvbl1 |
T |
C |
6: 88,474,272 (GRCm39) |
I425T |
probably benign |
Het |
| Shisal1 |
T |
C |
15: 84,301,427 (GRCm39) |
D72G |
probably damaging |
Het |
| Sipa1l1 |
C |
T |
12: 82,487,682 (GRCm39) |
A1652V |
probably benign |
Het |
| Slc12a2 |
A |
G |
18: 58,032,344 (GRCm39) |
Y348C |
probably damaging |
Het |
| Slc14a2 |
C |
A |
18: 78,238,963 (GRCm39) |
V219L |
possibly damaging |
Het |
| Smc1b |
G |
T |
15: 84,949,185 (GRCm39) |
P1242Q |
probably damaging |
Het |
| Smim33 |
A |
G |
18: 35,861,894 (GRCm39) |
Y126C |
probably damaging |
Het |
| Snx27 |
T |
A |
3: 94,431,551 (GRCm39) |
D281V |
probably damaging |
Het |
| Spem2 |
C |
T |
11: 69,707,973 (GRCm39) |
V331I |
probably benign |
Het |
| Sptb |
C |
A |
12: 76,656,052 (GRCm39) |
K1343N |
probably damaging |
Het |
| Sult2a8 |
T |
C |
7: 14,147,584 (GRCm39) |
I236V |
probably benign |
Het |
| Syk |
A |
G |
13: 52,765,071 (GRCm39) |
E66G |
probably damaging |
Het |
| Synm |
T |
A |
7: 67,385,406 (GRCm39) |
E310V |
probably damaging |
Het |
| Tas2r118 |
G |
A |
6: 23,969,209 (GRCm39) |
A284V |
probably benign |
Het |
| Thoc2l |
T |
A |
5: 104,667,742 (GRCm39) |
F755I |
probably damaging |
Het |
| Tlr11 |
A |
G |
14: 50,600,578 (GRCm39) |
N855D |
possibly damaging |
Het |
| Tmem230 |
G |
T |
2: 132,087,871 (GRCm39) |
|
probably benign |
Het |
| Trappc8 |
G |
A |
18: 20,977,237 (GRCm39) |
T844I |
probably benign |
Het |
| Trmt44 |
T |
C |
5: 35,722,812 (GRCm39) |
S419G |
possibly damaging |
Het |
| Trpv1 |
T |
A |
11: 73,132,574 (GRCm39) |
V396E |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Tubgcp2 |
A |
G |
7: 139,587,354 (GRCm39) |
I337T |
possibly damaging |
Het |
| Ubr4 |
T |
C |
4: 139,137,934 (GRCm39) |
I1097T |
probably damaging |
Het |
| Vmn2r61 |
T |
C |
7: 41,949,953 (GRCm39) |
F791S |
possibly damaging |
Het |
| Zdhhc2 |
T |
A |
8: 40,898,825 (GRCm39) |
M45K |
probably benign |
Het |
| Zfp383 |
T |
A |
7: 29,614,166 (GRCm39) |
D140E |
probably damaging |
Het |
| Zfp712 |
C |
A |
13: 67,189,425 (GRCm39) |
K367N |
probably damaging |
Het |
| Zfp763 |
C |
T |
17: 33,237,949 (GRCm39) |
A399T |
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 |
|
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 |
|
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'- GGCTTGTGGGATTTATTCAGAACTC -3'
(R):5'- TAAACTACCTGGACGAGTGCAG -3'
Sequencing Primer
(F):5'- CAGAATTAACTGACCAGGGCTTTGTC -3'
(R):5'- TGCAGCGACGAGAATGCTG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation