Incidental Mutation 'R6969:Depdc5'
ID |
543371 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Depdc5
|
Ensembl Gene |
ENSMUSG00000037426 |
Gene Name |
DEP domain containing 5 |
Synonyms |
|
MMRRC Submission |
045079-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6969 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
33021045-33151580 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 33141204 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 1368
(V1368G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113980
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087897]
[ENSMUST00000119705]
[ENSMUST00000120902]
[ENSMUST00000124780]
|
AlphaFold |
P61460 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000087897
AA Change: V1399G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000085207 Gene: ENSMUSG00000037426 AA Change: V1399G
Domain | Start | End | E-Value | Type |
Pfam:DUF3608
|
100 |
382 |
2.3e-63 |
PFAM |
low complexity region
|
491 |
508 |
N/A |
INTRINSIC |
low complexity region
|
656 |
667 |
N/A |
INTRINSIC |
low complexity region
|
690 |
699 |
N/A |
INTRINSIC |
low complexity region
|
826 |
836 |
N/A |
INTRINSIC |
low complexity region
|
994 |
1006 |
N/A |
INTRINSIC |
low complexity region
|
1159 |
1175 |
N/A |
INTRINSIC |
DEP
|
1184 |
1259 |
2.49e-15 |
SMART |
low complexity region
|
1322 |
1335 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119705
AA Change: V1390G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113862 Gene: ENSMUSG00000037426 AA Change: V1390G
Domain | Start | End | E-Value | Type |
Pfam:DUF3608
|
100 |
382 |
3e-117 |
PFAM |
low complexity region
|
491 |
508 |
N/A |
INTRINSIC |
low complexity region
|
656 |
667 |
N/A |
INTRINSIC |
low complexity region
|
690 |
699 |
N/A |
INTRINSIC |
low complexity region
|
817 |
827 |
N/A |
INTRINSIC |
low complexity region
|
985 |
997 |
N/A |
INTRINSIC |
low complexity region
|
1150 |
1166 |
N/A |
INTRINSIC |
DEP
|
1175 |
1250 |
2.49e-15 |
SMART |
low complexity region
|
1313 |
1326 |
N/A |
INTRINSIC |
low complexity region
|
1511 |
1525 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000120902
AA Change: V1368G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113980 Gene: ENSMUSG00000037426 AA Change: V1368G
Domain | Start | End | E-Value | Type |
Pfam:DUF3608
|
100 |
382 |
3.7e-63 |
PFAM |
low complexity region
|
491 |
508 |
N/A |
INTRINSIC |
low complexity region
|
656 |
667 |
N/A |
INTRINSIC |
low complexity region
|
690 |
699 |
N/A |
INTRINSIC |
low complexity region
|
817 |
827 |
N/A |
INTRINSIC |
low complexity region
|
985 |
997 |
N/A |
INTRINSIC |
low complexity region
|
1128 |
1144 |
N/A |
INTRINSIC |
DEP
|
1153 |
1228 |
2.49e-15 |
SMART |
low complexity region
|
1291 |
1304 |
N/A |
INTRINSIC |
low complexity region
|
1489 |
1503 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124780
|
SMART Domains |
Protein: ENSMUSP00000120120 Gene: ENSMUSG00000037426
Domain | Start | End | E-Value | Type |
low complexity region
|
179 |
189 |
N/A |
INTRINSIC |
low complexity region
|
347 |
359 |
N/A |
INTRINSIC |
SCOP:d1fsha_
|
519 |
586 |
1e-13 |
SMART |
Blast:DEP
|
537 |
589 |
2e-24 |
BLAST |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000121089 Gene: ENSMUSG00000037426 AA Change: V774G
Domain | Start | End | E-Value | Type |
low complexity region
|
54 |
65 |
N/A |
INTRINSIC |
low complexity region
|
88 |
97 |
N/A |
INTRINSIC |
low complexity region
|
224 |
234 |
N/A |
INTRINSIC |
low complexity region
|
392 |
404 |
N/A |
INTRINSIC |
low complexity region
|
535 |
551 |
N/A |
INTRINSIC |
DEP
|
560 |
635 |
2.49e-15 |
SMART |
low complexity region
|
698 |
711 |
N/A |
INTRINSIC |
low complexity region
|
896 |
910 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this gene is a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] PHENOTYPE: Mice homozygous for a knock-out allele exhibit preweaning lethality. Mice homozygous for a conditional allele activated in neurons exhibit reduced body weight, limb grasping, premature death, spontaneous seizure, increased brain size due to neuron hypertrophy and increased PTZ seizure susceptibility. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
T |
A |
6: 86,958,317 (GRCm39) |
L800H |
unknown |
Het |
Ap2b1 |
T |
A |
11: 83,280,552 (GRCm39) |
D788E |
probably damaging |
Het |
Arfgef1 |
G |
T |
1: 10,223,904 (GRCm39) |
Q1465K |
probably damaging |
Het |
Arfgef1 |
T |
C |
1: 10,223,903 (GRCm39) |
Q1465R |
probably damaging |
Het |
Arhgap9 |
G |
A |
10: 127,162,512 (GRCm39) |
E348K |
probably benign |
Het |
B4galnt2 |
A |
T |
11: 95,782,756 (GRCm39) |
F19I |
probably benign |
Het |
Bdp1 |
A |
T |
13: 100,211,039 (GRCm39) |
I551N |
probably damaging |
Het |
Ceacam16 |
A |
G |
7: 19,586,230 (GRCm39) |
*427Q |
probably null |
Het |
Chd9 |
A |
C |
8: 91,705,542 (GRCm39) |
Q260P |
probably benign |
Het |
Col16a1 |
A |
T |
4: 129,986,880 (GRCm39) |
|
probably benign |
Het |
Csmd1 |
A |
T |
8: 17,266,805 (GRCm39) |
N40K |
possibly damaging |
Het |
Dnah7b |
C |
A |
1: 46,397,398 (GRCm39) |
P3943Q |
probably damaging |
Het |
Dnttip2 |
A |
G |
3: 122,076,141 (GRCm39) |
Q691R |
probably damaging |
Het |
Dusp10 |
T |
C |
1: 183,801,085 (GRCm39) |
L284P |
probably damaging |
Het |
Efr3b |
A |
G |
12: 4,018,624 (GRCm39) |
V574A |
probably benign |
Het |
Erc2 |
A |
T |
14: 27,620,553 (GRCm39) |
I60F |
probably damaging |
Het |
Exoc2 |
A |
G |
13: 31,095,161 (GRCm39) |
V245A |
probably benign |
Het |
Fasl |
G |
T |
1: 161,609,244 (GRCm39) |
F37L |
probably damaging |
Het |
Fat3 |
G |
A |
9: 15,941,212 (GRCm39) |
P1360S |
probably benign |
Het |
Gpsm1 |
C |
T |
2: 26,230,555 (GRCm39) |
P502S |
probably benign |
Het |
Gtpbp10 |
C |
A |
5: 5,605,331 (GRCm39) |
G124V |
probably damaging |
Het |
Insm2 |
T |
C |
12: 55,646,963 (GRCm39) |
C236R |
probably damaging |
Het |
Irf2bpl |
A |
G |
12: 86,929,468 (GRCm39) |
Y402H |
possibly damaging |
Het |
Irx6 |
A |
G |
8: 93,403,958 (GRCm39) |
E175G |
probably damaging |
Het |
Kcnh8 |
C |
T |
17: 53,184,971 (GRCm39) |
R418* |
probably null |
Het |
Kif3c |
G |
A |
12: 3,416,114 (GRCm39) |
R45Q |
probably benign |
Het |
Larp7-ps |
A |
G |
4: 92,079,826 (GRCm39) |
I54T |
probably damaging |
Het |
Lpin1 |
A |
G |
12: 16,630,862 (GRCm39) |
F12S |
probably damaging |
Het |
Lrba |
A |
T |
3: 86,526,897 (GRCm39) |
T156S |
probably benign |
Het |
Lrrc19 |
G |
T |
4: 94,527,610 (GRCm39) |
N200K |
probably benign |
Het |
Lrrc7 |
G |
A |
3: 157,862,550 (GRCm39) |
H1296Y |
probably benign |
Het |
Ltn1 |
A |
T |
16: 87,212,578 (GRCm39) |
F661Y |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,351,593 (GRCm39) |
Y1893C |
probably benign |
Het |
Mmd |
G |
C |
11: 90,148,362 (GRCm39) |
A15P |
probably damaging |
Het |
Myh2 |
T |
C |
11: 67,088,092 (GRCm39) |
F1903L |
probably benign |
Het |
Myom3 |
T |
C |
4: 135,528,371 (GRCm39) |
L1072P |
probably damaging |
Het |
Or13l2 |
A |
T |
3: 97,318,118 (GRCm39) |
Y126* |
probably null |
Het |
Or56a41 |
T |
C |
7: 104,740,463 (GRCm39) |
I128V |
probably benign |
Het |
Or5bw2 |
G |
A |
7: 6,573,320 (GRCm39) |
C110Y |
probably damaging |
Het |
Or7g35 |
A |
T |
9: 19,495,886 (GRCm39) |
T18S |
possibly damaging |
Het |
Patl2 |
A |
T |
2: 121,959,410 (GRCm39) |
V18D |
possibly damaging |
Het |
Pkn1 |
T |
C |
8: 84,410,055 (GRCm39) |
S395G |
probably damaging |
Het |
Ptprm |
A |
G |
17: 67,219,413 (GRCm39) |
I726T |
possibly damaging |
Het |
Rab3gap2 |
T |
C |
1: 184,968,209 (GRCm39) |
L187P |
probably damaging |
Het |
Ric1 |
A |
T |
19: 29,563,182 (GRCm39) |
E535V |
probably damaging |
Het |
Ripor3 |
T |
C |
2: 167,827,657 (GRCm39) |
K598R |
probably benign |
Het |
Rnf40 |
A |
G |
7: 127,195,495 (GRCm39) |
E607G |
possibly damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Sbsn |
A |
G |
7: 30,452,616 (GRCm39) |
T544A |
probably benign |
Het |
Scaf1 |
C |
A |
7: 44,657,253 (GRCm39) |
|
probably benign |
Het |
Sec24a |
T |
C |
11: 51,591,643 (GRCm39) |
M1018V |
probably benign |
Het |
Shmt1 |
C |
T |
11: 60,695,153 (GRCm39) |
A54T |
probably damaging |
Het |
Slc39a14 |
C |
A |
14: 70,546,275 (GRCm39) |
V383F |
probably damaging |
Het |
Slc5a2 |
A |
G |
7: 127,871,249 (GRCm39) |
T346A |
probably benign |
Het |
Slco4a1 |
G |
A |
2: 180,106,601 (GRCm39) |
S261N |
probably benign |
Het |
Smarcc1 |
C |
G |
9: 110,025,388 (GRCm39) |
S688R |
probably damaging |
Het |
Sppl2b |
G |
A |
10: 80,700,959 (GRCm39) |
A314T |
probably damaging |
Het |
Sptb |
A |
T |
12: 76,654,781 (GRCm39) |
V1513E |
probably damaging |
Het |
Stx17 |
A |
T |
4: 48,140,462 (GRCm39) |
I56F |
probably damaging |
Het |
Tbc1d9 |
A |
G |
8: 83,968,171 (GRCm39) |
Y424C |
probably damaging |
Het |
Tgm3 |
A |
G |
2: 129,883,949 (GRCm39) |
K536E |
probably benign |
Het |
Tti2 |
A |
G |
8: 31,644,329 (GRCm39) |
I309V |
possibly damaging |
Het |
Tymp |
G |
A |
15: 89,258,251 (GRCm39) |
S334L |
probably benign |
Het |
Unc13b |
T |
C |
4: 43,263,538 (GRCm39) |
F1587L |
possibly damaging |
Het |
Vgf |
G |
T |
5: 137,060,507 (GRCm39) |
|
probably benign |
Het |
Zfp59 |
T |
C |
7: 27,552,922 (GRCm39) |
S125P |
probably damaging |
Het |
Zfp641 |
A |
T |
15: 98,188,448 (GRCm39) |
M144K |
possibly damaging |
Het |
Zfp93 |
A |
T |
7: 23,974,806 (GRCm39) |
K264* |
probably null |
Het |
|
Other mutations in Depdc5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00861:Depdc5
|
APN |
5 |
33,125,158 (GRCm39) |
splice site |
probably null |
|
IGL01019:Depdc5
|
APN |
5 |
33,050,745 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01067:Depdc5
|
APN |
5 |
33,056,411 (GRCm39) |
splice site |
probably null |
|
IGL01405:Depdc5
|
APN |
5 |
33,095,033 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01577:Depdc5
|
APN |
5 |
33,113,241 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL01633:Depdc5
|
APN |
5 |
33,081,544 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01998:Depdc5
|
APN |
5 |
33,102,495 (GRCm39) |
splice site |
probably benign |
|
IGL02025:Depdc5
|
APN |
5 |
33,103,976 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02167:Depdc5
|
APN |
5 |
33,061,145 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02537:Depdc5
|
APN |
5 |
33,125,131 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02812:Depdc5
|
APN |
5 |
33,050,712 (GRCm39) |
splice site |
probably benign |
|
IGL03001:Depdc5
|
APN |
5 |
33,102,434 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL03253:Depdc5
|
APN |
5 |
33,026,157 (GRCm39) |
unclassified |
probably benign |
|
alligator
|
UTSW |
5 |
33,121,851 (GRCm39) |
splice site |
probably null |
|
lagarto
|
UTSW |
5 |
33,136,852 (GRCm39) |
missense |
probably damaging |
1.00 |
sauros
|
UTSW |
5 |
33,144,310 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02988:Depdc5
|
UTSW |
5 |
33,113,511 (GRCm39) |
splice site |
probably null |
|
R0038:Depdc5
|
UTSW |
5 |
33,026,197 (GRCm39) |
missense |
probably benign |
0.01 |
R0038:Depdc5
|
UTSW |
5 |
33,026,197 (GRCm39) |
missense |
probably benign |
0.01 |
R0153:Depdc5
|
UTSW |
5 |
33,091,281 (GRCm39) |
splice site |
probably benign |
|
R0179:Depdc5
|
UTSW |
5 |
33,058,918 (GRCm39) |
unclassified |
probably benign |
|
R0212:Depdc5
|
UTSW |
5 |
33,069,586 (GRCm39) |
missense |
probably benign |
0.00 |
R0239:Depdc5
|
UTSW |
5 |
33,100,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R0239:Depdc5
|
UTSW |
5 |
33,100,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R0302:Depdc5
|
UTSW |
5 |
33,061,890 (GRCm39) |
critical splice donor site |
probably benign |
|
R0511:Depdc5
|
UTSW |
5 |
33,102,372 (GRCm39) |
nonsense |
probably null |
|
R0677:Depdc5
|
UTSW |
5 |
33,058,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R0884:Depdc5
|
UTSW |
5 |
33,075,322 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0973:Depdc5
|
UTSW |
5 |
33,144,310 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1314:Depdc5
|
UTSW |
5 |
33,034,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R1611:Depdc5
|
UTSW |
5 |
33,148,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R1687:Depdc5
|
UTSW |
5 |
33,067,751 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R1748:Depdc5
|
UTSW |
5 |
33,075,286 (GRCm39) |
missense |
probably benign |
0.24 |
R1903:Depdc5
|
UTSW |
5 |
33,067,751 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R1956:Depdc5
|
UTSW |
5 |
33,061,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R1997:Depdc5
|
UTSW |
5 |
33,059,250 (GRCm39) |
critical splice donor site |
probably null |
|
R2079:Depdc5
|
UTSW |
5 |
33,104,018 (GRCm39) |
missense |
possibly damaging |
0.75 |
R2131:Depdc5
|
UTSW |
5 |
33,148,125 (GRCm39) |
nonsense |
probably null |
|
R2291:Depdc5
|
UTSW |
5 |
33,136,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R2422:Depdc5
|
UTSW |
5 |
33,148,379 (GRCm39) |
missense |
probably damaging |
1.00 |
R2851:Depdc5
|
UTSW |
5 |
33,081,515 (GRCm39) |
missense |
probably damaging |
0.96 |
R2852:Depdc5
|
UTSW |
5 |
33,081,515 (GRCm39) |
missense |
probably damaging |
0.96 |
R2937:Depdc5
|
UTSW |
5 |
33,058,965 (GRCm39) |
splice site |
probably null |
|
R2938:Depdc5
|
UTSW |
5 |
33,058,965 (GRCm39) |
splice site |
probably null |
|
R2974:Depdc5
|
UTSW |
5 |
33,091,361 (GRCm39) |
critical splice donor site |
probably null |
|
R3884:Depdc5
|
UTSW |
5 |
33,101,421 (GRCm39) |
missense |
probably damaging |
1.00 |
R3967:Depdc5
|
UTSW |
5 |
33,101,459 (GRCm39) |
nonsense |
probably null |
|
R4118:Depdc5
|
UTSW |
5 |
33,121,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R4197:Depdc5
|
UTSW |
5 |
33,148,547 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4407:Depdc5
|
UTSW |
5 |
33,061,878 (GRCm39) |
critical splice donor site |
probably null |
|
R4534:Depdc5
|
UTSW |
5 |
33,067,751 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R4535:Depdc5
|
UTSW |
5 |
33,067,751 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R4538:Depdc5
|
UTSW |
5 |
33,141,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R4613:Depdc5
|
UTSW |
5 |
33,132,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R4736:Depdc5
|
UTSW |
5 |
33,132,666 (GRCm39) |
missense |
probably benign |
|
R4738:Depdc5
|
UTSW |
5 |
33,132,666 (GRCm39) |
missense |
probably benign |
|
R4765:Depdc5
|
UTSW |
5 |
33,094,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R5021:Depdc5
|
UTSW |
5 |
33,136,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R5259:Depdc5
|
UTSW |
5 |
33,095,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R5261:Depdc5
|
UTSW |
5 |
33,095,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R5541:Depdc5
|
UTSW |
5 |
33,021,973 (GRCm39) |
utr 5 prime |
probably benign |
|
R5594:Depdc5
|
UTSW |
5 |
33,058,834 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5929:Depdc5
|
UTSW |
5 |
33,132,850 (GRCm39) |
nonsense |
probably null |
|
R6132:Depdc5
|
UTSW |
5 |
33,067,811 (GRCm39) |
missense |
probably damaging |
0.99 |
R6146:Depdc5
|
UTSW |
5 |
33,126,075 (GRCm39) |
missense |
probably benign |
0.01 |
R6336:Depdc5
|
UTSW |
5 |
33,121,851 (GRCm39) |
splice site |
probably null |
|
R6468:Depdc5
|
UTSW |
5 |
33,069,575 (GRCm39) |
missense |
probably benign |
0.02 |
R6911:Depdc5
|
UTSW |
5 |
33,081,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R7002:Depdc5
|
UTSW |
5 |
33,034,502 (GRCm39) |
splice site |
probably null |
|
R7066:Depdc5
|
UTSW |
5 |
33,059,192 (GRCm39) |
missense |
probably benign |
0.08 |
R7231:Depdc5
|
UTSW |
5 |
33,059,209 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7264:Depdc5
|
UTSW |
5 |
33,125,089 (GRCm39) |
missense |
probably benign |
|
R7302:Depdc5
|
UTSW |
5 |
33,136,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R7386:Depdc5
|
UTSW |
5 |
33,085,280 (GRCm39) |
missense |
probably benign |
|
R7564:Depdc5
|
UTSW |
5 |
33,058,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R7636:Depdc5
|
UTSW |
5 |
33,075,327 (GRCm39) |
missense |
probably benign |
|
R7795:Depdc5
|
UTSW |
5 |
33,101,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R7845:Depdc5
|
UTSW |
5 |
33,061,259 (GRCm39) |
splice site |
probably null |
|
R8013:Depdc5
|
UTSW |
5 |
33,131,186 (GRCm39) |
missense |
probably benign |
0.01 |
R8037:Depdc5
|
UTSW |
5 |
33,116,692 (GRCm39) |
critical splice donor site |
probably null |
|
R8038:Depdc5
|
UTSW |
5 |
33,116,692 (GRCm39) |
critical splice donor site |
probably null |
|
R8065:Depdc5
|
UTSW |
5 |
33,053,252 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8067:Depdc5
|
UTSW |
5 |
33,053,252 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8108:Depdc5
|
UTSW |
5 |
33,102,393 (GRCm39) |
missense |
probably benign |
0.01 |
R8112:Depdc5
|
UTSW |
5 |
33,126,050 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8213:Depdc5
|
UTSW |
5 |
33,094,981 (GRCm39) |
missense |
probably damaging |
1.00 |
R8382:Depdc5
|
UTSW |
5 |
33,085,242 (GRCm39) |
missense |
probably benign |
0.00 |
R8680:Depdc5
|
UTSW |
5 |
33,101,382 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8743:Depdc5
|
UTSW |
5 |
33,081,587 (GRCm39) |
missense |
probably benign |
0.10 |
R8754:Depdc5
|
UTSW |
5 |
33,136,881 (GRCm39) |
missense |
probably benign |
0.00 |
R9157:Depdc5
|
UTSW |
5 |
33,102,452 (GRCm39) |
missense |
probably damaging |
0.98 |
R9364:Depdc5
|
UTSW |
5 |
33,122,076 (GRCm39) |
missense |
probably benign |
|
R9441:Depdc5
|
UTSW |
5 |
33,095,042 (GRCm39) |
missense |
probably benign |
0.03 |
R9450:Depdc5
|
UTSW |
5 |
33,091,354 (GRCm39) |
missense |
probably benign |
|
R9459:Depdc5
|
UTSW |
5 |
33,148,117 (GRCm39) |
missense |
probably damaging |
0.99 |
R9554:Depdc5
|
UTSW |
5 |
33,122,076 (GRCm39) |
missense |
probably benign |
|
R9569:Depdc5
|
UTSW |
5 |
33,025,321 (GRCm39) |
missense |
probably damaging |
0.98 |
R9647:Depdc5
|
UTSW |
5 |
33,081,567 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9688:Depdc5
|
UTSW |
5 |
33,055,276 (GRCm39) |
nonsense |
probably null |
|
X0027:Depdc5
|
UTSW |
5 |
33,061,636 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Depdc5
|
UTSW |
5 |
33,100,626 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTGTCAGGAAGCATGCTCAC -3'
(R):5'- CTTTTGGAAGGCGGTGACTC -3'
Sequencing Primer
(F):5'- ACACTCTTTCCTGACCAGAATGG -3'
(R):5'- GCAGCTCTTACTATCGAACAGGTG -3'
|
Posted On |
2018-11-28 |