Incidental Mutation 'R1903:Depdc5'
ID |
209920 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Depdc5
|
Ensembl Gene |
ENSMUSG00000037426 |
Gene Name |
DEP domain containing 5 |
Synonyms |
|
MMRRC Submission |
039923-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1903 (G1)
|
Quality Score |
134 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
33021045-33151580 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT to CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT
at 33067751 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049780]
[ENSMUST00000087897]
[ENSMUST00000119705]
[ENSMUST00000120902]
[ENSMUST00000195980]
|
AlphaFold |
P61460 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049780
|
SMART Domains |
Protein: ENSMUSP00000052807 Gene: ENSMUSG00000037426
Domain | Start | End | E-Value | Type |
Pfam:DUF3608
|
100 |
382 |
3.7e-64 |
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000087897
|
SMART Domains |
Protein: ENSMUSP00000085207 Gene: ENSMUSG00000037426
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 benign
Transcript: ENSMUST00000119705
|
SMART Domains |
Protein: ENSMUSP00000113862 Gene: ENSMUSG00000037426
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 benign
Transcript: ENSMUST00000120902
|
SMART Domains |
Protein: ENSMUSP00000113980 Gene: ENSMUSG00000037426
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 |
noncoding transcript
Transcript: ENSMUST00000139098
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158455
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201836
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195980
|
SMART Domains |
Protein: ENSMUSP00000143228 Gene: ENSMUSG00000037426
Domain | Start | End | E-Value | Type |
Pfam:DUF3608
|
100 |
147 |
4e-7 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201802
|
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 95.0%
- 20x: 91.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 120 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
A |
C |
9: 57,165,635 (GRCm39) |
S246R |
possibly damaging |
Het |
Abca13 |
C |
T |
11: 9,416,411 (GRCm39) |
R4058C |
probably benign |
Het |
Acacb |
A |
T |
5: 114,303,795 (GRCm39) |
R73* |
probably null |
Het |
Adam22 |
C |
T |
5: 8,184,525 (GRCm39) |
C489Y |
probably damaging |
Het |
Agap3 |
A |
T |
5: 24,698,011 (GRCm39) |
K460I |
probably damaging |
Het |
Ak4 |
T |
C |
4: 101,320,833 (GRCm39) |
I214T |
possibly damaging |
Het |
Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
Arrb2 |
T |
A |
11: 70,328,808 (GRCm39) |
H221Q |
probably damaging |
Het |
Atl1 |
T |
G |
12: 70,006,049 (GRCm39) |
F452V |
probably damaging |
Het |
Atp8b5 |
A |
G |
4: 43,357,063 (GRCm39) |
T604A |
probably damaging |
Het |
Bglap3 |
T |
C |
3: 88,276,068 (GRCm39) |
I95V |
probably benign |
Het |
Ccdc88a |
G |
T |
11: 29,411,788 (GRCm39) |
M532I |
probably benign |
Het |
Ccnl1 |
A |
G |
3: 65,854,332 (GRCm39) |
S430P |
possibly damaging |
Het |
Cdhr18 |
C |
T |
14: 13,829,657 (GRCm38) |
S695N |
possibly damaging |
Het |
Cdk5rap2 |
A |
T |
4: 70,321,791 (GRCm39) |
|
probably null |
Het |
Cep126 |
A |
T |
9: 8,120,748 (GRCm39) |
Y92N |
possibly damaging |
Het |
Cfap44 |
A |
C |
16: 44,242,737 (GRCm39) |
T714P |
probably benign |
Het |
Cnga1 |
T |
G |
5: 72,774,068 (GRCm39) |
D90A |
possibly damaging |
Het |
Cnot1 |
T |
C |
8: 96,469,749 (GRCm39) |
I1369V |
possibly damaging |
Het |
Coq3 |
T |
C |
4: 21,910,466 (GRCm39) |
S314P |
probably damaging |
Het |
Crhr1 |
A |
G |
11: 104,060,675 (GRCm39) |
R151G |
probably damaging |
Het |
Crybg2 |
A |
G |
4: 133,806,167 (GRCm39) |
I930V |
probably damaging |
Het |
Ctcf |
T |
A |
8: 106,402,620 (GRCm39) |
|
probably null |
Het |
Dct |
T |
C |
14: 118,271,690 (GRCm39) |
N380S |
probably benign |
Het |
Decr2 |
A |
T |
17: 26,306,387 (GRCm39) |
L83Q |
probably damaging |
Het |
Dgkb |
T |
C |
12: 38,216,776 (GRCm39) |
|
probably null |
Het |
Dnah1 |
T |
C |
14: 31,041,716 (GRCm39) |
D85G |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,574,637 (GRCm39) |
D1709G |
probably damaging |
Het |
Dnajc13 |
A |
C |
9: 104,106,136 (GRCm39) |
L346R |
probably damaging |
Het |
Dsc1 |
A |
T |
18: 20,229,045 (GRCm39) |
V415D |
probably damaging |
Het |
Duox2 |
T |
A |
2: 122,125,832 (GRCm39) |
I296F |
probably damaging |
Het |
Ece2 |
T |
A |
16: 20,463,922 (GRCm39) |
L890H |
probably damaging |
Het |
Ecsit |
A |
G |
9: 21,987,815 (GRCm39) |
S75P |
possibly damaging |
Het |
Enpp3 |
A |
G |
10: 24,654,687 (GRCm39) |
C664R |
probably damaging |
Het |
Evpl |
G |
T |
11: 116,117,854 (GRCm39) |
D778E |
probably damaging |
Het |
Eya3 |
T |
A |
4: 132,448,663 (GRCm39) |
|
probably null |
Het |
Fam217b |
A |
T |
2: 178,062,374 (GRCm39) |
I113F |
probably benign |
Het |
Galnt6 |
G |
A |
15: 100,613,999 (GRCm39) |
P101S |
possibly damaging |
Het |
Gm379 |
G |
A |
X: 107,707,870 (GRCm39) |
Q210* |
probably null |
Het |
Grk4 |
A |
T |
5: 34,833,531 (GRCm39) |
|
probably null |
Het |
Gtf3c4 |
A |
G |
2: 28,729,968 (GRCm39) |
V91A |
probably benign |
Het |
Hcfc2 |
G |
T |
10: 82,538,392 (GRCm39) |
G143V |
probably damaging |
Het |
Heatr4 |
A |
C |
12: 84,005,221 (GRCm39) |
H710Q |
probably damaging |
Het |
Htr3a |
A |
T |
9: 48,817,681 (GRCm39) |
D97E |
probably damaging |
Het |
Htr4 |
T |
G |
18: 62,561,193 (GRCm39) |
F151L |
probably benign |
Het |
Il22ra1 |
A |
T |
4: 135,478,219 (GRCm39) |
Q430L |
probably damaging |
Het |
Invs |
T |
A |
4: 48,402,824 (GRCm39) |
|
probably null |
Het |
Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
Irs1 |
T |
C |
1: 82,267,182 (GRCm39) |
S345G |
probably damaging |
Het |
Kdm4a |
A |
G |
4: 118,017,596 (GRCm39) |
V490A |
probably benign |
Het |
Kif26a |
C |
T |
12: 112,141,974 (GRCm39) |
R743C |
probably damaging |
Het |
Kif28 |
A |
G |
1: 179,530,088 (GRCm39) |
V691A |
possibly damaging |
Het |
Klhl5 |
T |
A |
5: 65,324,330 (GRCm39) |
L696Q |
probably benign |
Het |
Krtap5-1 |
T |
C |
7: 141,850,084 (GRCm39) |
|
probably benign |
Het |
Lama2 |
A |
C |
10: 27,064,395 (GRCm39) |
D1195E |
probably damaging |
Het |
Lamb1 |
T |
G |
12: 31,379,209 (GRCm39) |
L1722R |
probably damaging |
Het |
Lrp11 |
T |
A |
10: 7,499,544 (GRCm39) |
L245Q |
probably damaging |
Het |
Ltbp2 |
T |
C |
12: 84,876,879 (GRCm39) |
E422G |
probably benign |
Het |
Man2b1 |
T |
A |
8: 85,813,451 (GRCm39) |
D214E |
probably damaging |
Het |
Mlxipl |
A |
T |
5: 135,162,422 (GRCm39) |
D628V |
possibly damaging |
Het |
Msantd5f6 |
T |
A |
4: 73,321,675 (GRCm39) |
Y120F |
probably damaging |
Het |
Myo18b |
G |
A |
5: 112,840,624 (GRCm39) |
R2390C |
probably damaging |
Het |
Mypn |
T |
A |
10: 62,959,176 (GRCm39) |
R1048S |
probably benign |
Het |
Napepld |
A |
G |
5: 21,870,270 (GRCm39) |
S383P |
probably damaging |
Het |
Napsa |
A |
G |
7: 44,231,160 (GRCm39) |
T130A |
probably damaging |
Het |
Nbr1 |
T |
C |
11: 101,465,978 (GRCm39) |
I716T |
probably damaging |
Het |
Nexn |
A |
T |
3: 151,953,818 (GRCm39) |
M212K |
probably damaging |
Het |
Nlrp9b |
T |
A |
7: 19,757,182 (GRCm39) |
S140T |
probably benign |
Het |
Nxpe2 |
T |
C |
9: 48,230,906 (GRCm39) |
T488A |
probably benign |
Het |
Or10g3 |
T |
G |
14: 52,610,174 (GRCm39) |
Q112P |
possibly damaging |
Het |
Or10v1 |
A |
T |
19: 11,873,913 (GRCm39) |
Y176F |
probably benign |
Het |
Or5ac25 |
A |
T |
16: 59,182,526 (GRCm39) |
D18E |
probably benign |
Het |
Or7g12 |
A |
T |
9: 18,900,192 (GRCm39) |
K303* |
probably null |
Het |
Or8k20 |
C |
T |
2: 86,106,190 (GRCm39) |
V214I |
probably benign |
Het |
Osbpl5 |
T |
C |
7: 143,256,918 (GRCm39) |
D404G |
possibly damaging |
Het |
Pan2 |
T |
G |
10: 128,144,237 (GRCm39) |
L162R |
probably damaging |
Het |
Parp1 |
G |
T |
1: 180,416,235 (GRCm39) |
V545F |
probably damaging |
Het |
Pcdh18 |
A |
G |
3: 49,709,896 (GRCm39) |
V473A |
probably benign |
Het |
Plb1 |
A |
T |
5: 32,448,582 (GRCm39) |
N350I |
probably damaging |
Het |
Polr1a |
A |
G |
6: 71,944,898 (GRCm39) |
K1318R |
probably benign |
Het |
Ppp1r18 |
C |
T |
17: 36,184,738 (GRCm39) |
P130S |
probably damaging |
Het |
Prss48 |
C |
T |
3: 85,905,614 (GRCm39) |
W86* |
probably null |
Het |
Rab3c |
A |
T |
13: 110,220,744 (GRCm39) |
I137N |
probably damaging |
Het |
Rab3gap2 |
G |
C |
1: 184,954,099 (GRCm39) |
R57P |
probably benign |
Het |
Rad54l2 |
A |
C |
9: 106,570,916 (GRCm39) |
|
probably null |
Het |
Ralgapb |
C |
A |
2: 158,337,483 (GRCm39) |
N1147K |
probably benign |
Het |
Rfx7 |
C |
T |
9: 72,524,093 (GRCm39) |
R428C |
probably damaging |
Het |
Robo1 |
A |
G |
16: 72,757,092 (GRCm39) |
Q351R |
probably null |
Het |
Samd4 |
T |
C |
14: 47,311,585 (GRCm39) |
F81S |
probably damaging |
Het |
Shprh |
T |
A |
10: 11,059,541 (GRCm39) |
Y1097* |
probably null |
Het |
Sik3 |
C |
G |
9: 46,132,387 (GRCm39) |
H1276Q |
probably benign |
Het |
Slc24a4 |
T |
A |
12: 102,097,876 (GRCm39) |
D79E |
probably benign |
Het |
Slc7a13 |
A |
T |
4: 19,839,254 (GRCm39) |
I286F |
probably benign |
Het |
Smarca1 |
G |
A |
X: 46,938,840 (GRCm39) |
Q723* |
probably null |
Het |
Spata31d1b |
T |
C |
13: 59,865,882 (GRCm39) |
L1010P |
probably damaging |
Het |
Sult2a1 |
T |
C |
7: 13,569,900 (GRCm39) |
S111G |
possibly damaging |
Het |
Tecpr2 |
C |
T |
12: 110,914,346 (GRCm39) |
T1219M |
probably damaging |
Het |
Tesk1 |
T |
C |
4: 43,446,998 (GRCm39) |
M462T |
probably benign |
Het |
Thoc2l |
T |
A |
5: 104,666,196 (GRCm39) |
S239R |
probably benign |
Het |
Tmem171 |
C |
A |
13: 98,822,924 (GRCm39) |
G292* |
probably null |
Het |
Tmtc2 |
G |
T |
10: 105,025,969 (GRCm39) |
T833N |
probably benign |
Het |
Tnc |
G |
T |
4: 63,918,299 (GRCm39) |
T1204K |
probably benign |
Het |
Tnfaip3 |
T |
C |
10: 18,883,937 (GRCm39) |
K148E |
probably benign |
Het |
Tnrc18 |
G |
A |
5: 142,800,895 (GRCm39) |
S21F |
probably damaging |
Het |
Tns4 |
T |
C |
11: 98,966,401 (GRCm39) |
T425A |
probably damaging |
Het |
Tox |
T |
A |
4: 6,688,948 (GRCm39) |
Y472F |
probably damaging |
Het |
Trak2 |
A |
T |
1: 58,958,014 (GRCm39) |
|
probably null |
Het |
Trim33 |
T |
A |
3: 103,244,760 (GRCm39) |
Y716N |
probably damaging |
Het |
Trrap |
T |
G |
5: 144,752,863 (GRCm39) |
I1813R |
probably damaging |
Het |
Ttc29 |
A |
G |
8: 78,978,361 (GRCm39) |
E137G |
probably benign |
Het |
Ube2j2 |
A |
G |
4: 156,033,483 (GRCm39) |
K19R |
probably benign |
Het |
Ubxn2b |
T |
C |
4: 6,208,889 (GRCm39) |
I206T |
possibly damaging |
Het |
Usp40 |
A |
G |
1: 87,909,778 (GRCm39) |
F559L |
probably benign |
Het |
Utp4 |
T |
A |
8: 107,638,982 (GRCm39) |
|
probably null |
Het |
Vac14 |
A |
G |
8: 111,409,166 (GRCm39) |
N524S |
probably benign |
Het |
Vps13c |
T |
C |
9: 67,801,334 (GRCm39) |
S605P |
probably damaging |
Het |
Vwa5b2 |
G |
T |
16: 20,423,582 (GRCm39) |
S1165I |
possibly damaging |
Het |
Zdhhc19 |
C |
T |
16: 32,317,231 (GRCm39) |
R28* |
probably null |
Het |
Zfp106 |
T |
C |
2: 120,357,329 (GRCm39) |
I1189V |
probably benign |
Het |
Zfp189 |
C |
T |
4: 49,529,511 (GRCm39) |
Q205* |
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 |
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 |
R6969:Depdc5
|
UTSW |
5 |
33,141,204 (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'- GACCTCATCTAGATTGCAGTTTGC -3'
(R):5'- TCAGAATAAATACACAGCTGGGTG -3'
Sequencing Primer
(F):5'- GGTATACTAGGGGCCAACTTTATCC -3'
(R):5'- TGGTCAAACTGGGGAAAC -3'
|
Posted On |
2014-06-30 |