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 |
32863701-32994236 bp(+) (GRCm38) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT to CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT
at 32910407 bp (GRCm38)
|
| 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: 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201836
|
| 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: 57,258,352 (GRCm38) |
S246R |
possibly damaging |
Het |
| Abca13 |
C |
T |
11: 9,466,411 (GRCm38) |
R4058C |
probably benign |
Het |
| Acacb |
A |
T |
5: 114,165,734 (GRCm38) |
R73* |
probably null |
Het |
| Adam22 |
C |
T |
5: 8,134,525 (GRCm38) |
C489Y |
probably damaging |
Het |
| Agap3 |
A |
T |
5: 24,493,013 (GRCm38) |
K460I |
probably damaging |
Het |
| Ak4 |
T |
C |
4: 101,463,636 (GRCm38) |
I214T |
possibly damaging |
Het |
| Anpep |
C |
T |
7: 79,838,256 (GRCm38) |
E518K |
probably benign |
Het |
| Arrb2 |
T |
A |
11: 70,437,982 (GRCm38) |
H221Q |
probably damaging |
Het |
| Atl1 |
T |
G |
12: 69,959,275 (GRCm38) |
F452V |
probably damaging |
Het |
| Atp8b5 |
A |
G |
4: 43,357,063 (GRCm38) |
T604A |
probably damaging |
Het |
| BC005561 |
T |
A |
5: 104,518,330 (GRCm38) |
S239R |
probably benign |
Het |
| Bglap3 |
T |
C |
3: 88,368,761 (GRCm38) |
I95V |
probably benign |
Het |
| Ccdc88a |
G |
T |
11: 29,461,788 (GRCm38) |
M532I |
probably benign |
Het |
| Ccnl1 |
A |
G |
3: 65,946,911 (GRCm38) |
S430P |
possibly damaging |
Het |
| Cdk5rap2 |
A |
T |
4: 70,403,554 (GRCm38) |
|
probably null |
Het |
| Cep126 |
A |
T |
9: 8,120,747 (GRCm38) |
Y92N |
possibly damaging |
Het |
| Cfap44 |
A |
C |
16: 44,422,374 (GRCm38) |
T714P |
probably benign |
Het |
| Cnga1 |
T |
G |
5: 72,616,725 (GRCm38) |
D90A |
possibly damaging |
Het |
| Cnot1 |
T |
C |
8: 95,743,121 (GRCm38) |
I1369V |
possibly damaging |
Het |
| Coq3 |
T |
C |
4: 21,910,466 (GRCm38) |
S314P |
probably damaging |
Het |
| Crhr1 |
A |
G |
11: 104,169,849 (GRCm38) |
R151G |
probably damaging |
Het |
| Crybg2 |
A |
G |
4: 134,078,856 (GRCm38) |
I930V |
probably damaging |
Het |
| Ctcf |
T |
A |
8: 105,675,988 (GRCm38) |
|
probably null |
Het |
| Dct |
T |
C |
14: 118,034,278 (GRCm38) |
N380S |
probably benign |
Het |
| Decr2 |
A |
T |
17: 26,087,413 (GRCm38) |
L83Q |
probably damaging |
Het |
| Dgkb |
T |
C |
12: 38,166,777 (GRCm38) |
|
probably null |
Het |
| Dnah1 |
T |
C |
14: 31,319,759 (GRCm38) |
D85G |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,535,478 (GRCm38) |
D1709G |
probably damaging |
Het |
| Dnajc13 |
A |
C |
9: 104,228,937 (GRCm38) |
L346R |
probably damaging |
Het |
| Dsc1 |
A |
T |
18: 20,095,988 (GRCm38) |
V415D |
probably damaging |
Het |
| Duox2 |
T |
A |
2: 122,295,351 (GRCm38) |
I296F |
probably damaging |
Het |
| Ece2 |
T |
A |
16: 20,645,172 (GRCm38) |
L890H |
probably damaging |
Het |
| Ecsit |
A |
G |
9: 22,076,519 (GRCm38) |
S75P |
possibly damaging |
Het |
| Enpp3 |
A |
G |
10: 24,778,789 (GRCm38) |
C664R |
probably damaging |
Het |
| Evpl |
G |
T |
11: 116,227,028 (GRCm38) |
D778E |
probably damaging |
Het |
| Eya3 |
T |
A |
4: 132,721,352 (GRCm38) |
|
probably null |
Het |
| Fam217b |
A |
T |
2: 178,420,581 (GRCm38) |
I113F |
probably benign |
Het |
| Galnt6 |
G |
A |
15: 100,716,118 (GRCm38) |
P101S |
possibly damaging |
Het |
| Gm11487 |
T |
A |
4: 73,403,438 (GRCm38) |
Y120F |
probably damaging |
Het |
| Gm281 |
C |
T |
14: 13,829,657 (GRCm38) |
S695N |
possibly damaging |
Het |
| Gm379 |
G |
A |
X: 108,664,264 (GRCm38) |
Q210* |
probably null |
Het |
| Grk4 |
A |
T |
5: 34,676,187 (GRCm38) |
|
probably null |
Het |
| Gtf3c4 |
A |
G |
2: 28,839,956 (GRCm38) |
V91A |
probably benign |
Het |
| Hcfc2 |
G |
T |
10: 82,702,558 (GRCm38) |
G143V |
probably damaging |
Het |
| Heatr4 |
A |
C |
12: 83,958,447 (GRCm38) |
H710Q |
probably damaging |
Het |
| Htr3a |
A |
T |
9: 48,906,381 (GRCm38) |
D97E |
probably damaging |
Het |
| Htr4 |
T |
G |
18: 62,428,122 (GRCm38) |
F151L |
probably benign |
Het |
| Il22ra1 |
A |
T |
4: 135,750,908 (GRCm38) |
Q430L |
probably damaging |
Het |
| Invs |
T |
A |
4: 48,402,824 (GRCm38) |
|
probably null |
Het |
| Ip6k1 |
G |
A |
9: 108,040,996 (GRCm38) |
E77K |
possibly damaging |
Het |
| Irs1 |
T |
C |
1: 82,289,461 (GRCm38) |
S345G |
probably damaging |
Het |
| Kdm4a |
A |
G |
4: 118,160,399 (GRCm38) |
V490A |
probably benign |
Het |
| Kif26a |
C |
T |
12: 112,175,540 (GRCm38) |
R743C |
probably damaging |
Het |
| Kif28 |
A |
G |
1: 179,702,523 (GRCm38) |
V691A |
possibly damaging |
Het |
| Klhl5 |
T |
A |
5: 65,166,987 (GRCm38) |
L696Q |
probably benign |
Het |
| Krtap5-1 |
T |
C |
7: 142,296,347 (GRCm38) |
|
probably benign |
Het |
| Lama2 |
A |
C |
10: 27,188,399 (GRCm38) |
D1195E |
probably damaging |
Het |
| Lamb1 |
T |
G |
12: 31,329,210 (GRCm38) |
L1722R |
probably damaging |
Het |
| Lrp11 |
T |
A |
10: 7,623,780 (GRCm38) |
L245Q |
probably damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,830,105 (GRCm38) |
E422G |
probably benign |
Het |
| Man2b1 |
T |
A |
8: 85,086,822 (GRCm38) |
D214E |
probably damaging |
Het |
| Mlxipl |
A |
T |
5: 135,133,568 (GRCm38) |
D628V |
possibly damaging |
Het |
| Myo18b |
G |
A |
5: 112,692,758 (GRCm38) |
R2390C |
probably damaging |
Het |
| Mypn |
T |
A |
10: 63,123,397 (GRCm38) |
R1048S |
probably benign |
Het |
| Napepld |
A |
G |
5: 21,665,272 (GRCm38) |
S383P |
probably damaging |
Het |
| Napsa |
A |
G |
7: 44,581,736 (GRCm38) |
T130A |
probably damaging |
Het |
| Nbr1 |
T |
C |
11: 101,575,152 (GRCm38) |
I716T |
probably damaging |
Het |
| Nexn |
A |
T |
3: 152,248,181 (GRCm38) |
M212K |
probably damaging |
Het |
| Nlrp9b |
T |
A |
7: 20,023,257 (GRCm38) |
S140T |
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,319,606 (GRCm38) |
T488A |
probably benign |
Het |
| Olfr1051 |
C |
T |
2: 86,275,846 (GRCm38) |
V214I |
probably benign |
Het |
| Olfr1420 |
A |
T |
19: 11,896,549 (GRCm38) |
Y176F |
probably benign |
Het |
| Olfr1512 |
T |
G |
14: 52,372,717 (GRCm38) |
Q112P |
possibly damaging |
Het |
| Olfr209 |
A |
T |
16: 59,362,163 (GRCm38) |
D18E |
probably benign |
Het |
| Olfr834 |
A |
T |
9: 18,988,896 (GRCm38) |
K303* |
probably null |
Het |
| Osbpl5 |
T |
C |
7: 143,703,181 (GRCm38) |
D404G |
possibly damaging |
Het |
| Pan2 |
T |
G |
10: 128,308,368 (GRCm38) |
L162R |
probably damaging |
Het |
| Parp1 |
G |
T |
1: 180,588,670 (GRCm38) |
V545F |
probably damaging |
Het |
| Pcdh18 |
A |
G |
3: 49,755,447 (GRCm38) |
V473A |
probably benign |
Het |
| Plb1 |
A |
T |
5: 32,291,238 (GRCm38) |
N350I |
probably damaging |
Het |
| Polr1a |
A |
G |
6: 71,967,914 (GRCm38) |
K1318R |
probably benign |
Het |
| Ppp1r18 |
C |
T |
17: 35,873,846 (GRCm38) |
P130S |
probably damaging |
Het |
| Prss48 |
C |
T |
3: 85,998,307 (GRCm38) |
W86* |
probably null |
Het |
| Rab3c |
A |
T |
13: 110,084,210 (GRCm38) |
I137N |
probably damaging |
Het |
| Rab3gap2 |
G |
C |
1: 185,221,902 (GRCm38) |
R57P |
probably benign |
Het |
| Rad54l2 |
A |
C |
9: 106,693,717 (GRCm38) |
|
probably null |
Het |
| Ralgapb |
C |
A |
2: 158,495,563 (GRCm38) |
N1147K |
probably benign |
Het |
| Rfx7 |
C |
T |
9: 72,616,811 (GRCm38) |
R428C |
probably damaging |
Het |
| Robo1 |
A |
G |
16: 72,960,204 (GRCm38) |
Q351R |
probably null |
Het |
| Samd4 |
T |
C |
14: 47,074,128 (GRCm38) |
F81S |
probably damaging |
Het |
| Shprh |
T |
A |
10: 11,183,797 (GRCm38) |
Y1097* |
probably null |
Het |
| Sik3 |
C |
G |
9: 46,221,089 (GRCm38) |
H1276Q |
probably benign |
Het |
| Slc24a4 |
T |
A |
12: 102,131,617 (GRCm38) |
D79E |
probably benign |
Het |
| Slc7a13 |
A |
T |
4: 19,839,254 (GRCm38) |
I286F |
probably benign |
Het |
| Smarca1 |
G |
A |
X: 47,849,963 (GRCm38) |
Q723* |
probably null |
Het |
| Spata31d1b |
T |
C |
13: 59,718,068 (GRCm38) |
L1010P |
probably damaging |
Het |
| Sult2a1 |
T |
C |
7: 13,835,975 (GRCm38) |
S111G |
possibly damaging |
Het |
| Tecpr2 |
C |
T |
12: 110,947,912 (GRCm38) |
T1219M |
probably damaging |
Het |
| Tesk1 |
T |
C |
4: 43,446,998 (GRCm38) |
M462T |
probably benign |
Het |
| Tmem171 |
C |
A |
13: 98,686,416 (GRCm38) |
G292* |
probably null |
Het |
| Tmtc2 |
G |
T |
10: 105,190,108 (GRCm38) |
T833N |
probably benign |
Het |
| Tnc |
G |
T |
4: 64,000,062 (GRCm38) |
T1204K |
probably benign |
Het |
| Tnfaip3 |
T |
C |
10: 19,008,189 (GRCm38) |
K148E |
probably benign |
Het |
| Tnrc18 |
G |
A |
5: 142,815,140 (GRCm38) |
S21F |
probably damaging |
Het |
| Tns4 |
T |
C |
11: 99,075,575 (GRCm38) |
T425A |
probably damaging |
Het |
| Tox |
T |
A |
4: 6,688,948 (GRCm38) |
Y472F |
probably damaging |
Het |
| Trak2 |
A |
T |
1: 58,918,855 (GRCm38) |
|
probably null |
Het |
| Trim33 |
T |
A |
3: 103,337,444 (GRCm38) |
Y716N |
probably damaging |
Het |
| Trrap |
T |
G |
5: 144,816,053 (GRCm38) |
I1813R |
probably damaging |
Het |
| Ttc29 |
A |
G |
8: 78,251,732 (GRCm38) |
E137G |
probably benign |
Het |
| Ube2j2 |
A |
G |
4: 155,949,026 (GRCm38) |
K19R |
probably benign |
Het |
| Ubxn2b |
T |
C |
4: 6,208,889 (GRCm38) |
I206T |
possibly damaging |
Het |
| Usp40 |
A |
G |
1: 87,982,056 (GRCm38) |
F559L |
probably benign |
Het |
| Utp4 |
T |
A |
8: 106,912,350 (GRCm38) |
|
probably null |
Het |
| Vac14 |
A |
G |
8: 110,682,534 (GRCm38) |
N524S |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,894,052 (GRCm38) |
S605P |
probably damaging |
Het |
| Vwa5b2 |
G |
T |
16: 20,604,832 (GRCm38) |
S1165I |
possibly damaging |
Het |
| Zdhhc19 |
C |
T |
16: 32,498,413 (GRCm38) |
R28* |
probably null |
Het |
| Zfp106 |
T |
C |
2: 120,526,848 (GRCm38) |
I1189V |
probably benign |
Het |
| Zfp189 |
C |
T |
4: 49,529,511 (GRCm38) |
Q205* |
probably null |
Het |
|
| Other mutations in Depdc5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00861:Depdc5
|
APN |
5 |
32,967,814 (GRCm38) |
splice site |
probably null |
|
|
IGL01019:Depdc5
|
APN |
5 |
32,893,401 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01067:Depdc5
|
APN |
5 |
32,899,067 (GRCm38) |
splice site |
probably null |
|
|
IGL01405:Depdc5
|
APN |
5 |
32,937,689 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL01577:Depdc5
|
APN |
5 |
32,955,897 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
IGL01633:Depdc5
|
APN |
5 |
32,924,200 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01998:Depdc5
|
APN |
5 |
32,945,151 (GRCm38) |
splice site |
probably benign |
|
|
IGL02025:Depdc5
|
APN |
5 |
32,946,632 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL02167:Depdc5
|
APN |
5 |
32,903,801 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02537:Depdc5
|
APN |
5 |
32,967,787 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02812:Depdc5
|
APN |
5 |
32,893,368 (GRCm38) |
splice site |
probably benign |
|
|
IGL03001:Depdc5
|
APN |
5 |
32,945,090 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
IGL03253:Depdc5
|
APN |
5 |
32,868,813 (GRCm38) |
unclassified |
probably benign |
|
|
alligator
|
UTSW |
5 |
32,964,507 (GRCm38) |
splice site |
probably null |
|
|
lagarto
|
UTSW |
5 |
32,979,508 (GRCm38) |
missense |
probably damaging |
1.00 |
|
sauros
|
UTSW |
5 |
32,986,966 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02988:Depdc5
|
UTSW |
5 |
32,956,167 (GRCm38) |
splice site |
probably null |
|
|
R0038:Depdc5
|
UTSW |
5 |
32,868,853 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0038:Depdc5
|
UTSW |
5 |
32,868,853 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0153:Depdc5
|
UTSW |
5 |
32,933,937 (GRCm38) |
splice site |
probably benign |
|
|
R0179:Depdc5
|
UTSW |
5 |
32,901,574 (GRCm38) |
unclassified |
probably benign |
|
|
R0212:Depdc5
|
UTSW |
5 |
32,912,242 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0239:Depdc5
|
UTSW |
5 |
32,943,240 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0239:Depdc5
|
UTSW |
5 |
32,943,240 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0302:Depdc5
|
UTSW |
5 |
32,904,546 (GRCm38) |
critical splice donor site |
probably benign |
|
|
R0511:Depdc5
|
UTSW |
5 |
32,945,028 (GRCm38) |
nonsense |
probably null |
|
|
R0677:Depdc5
|
UTSW |
5 |
32,901,470 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0884:Depdc5
|
UTSW |
5 |
32,917,978 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0973:Depdc5
|
UTSW |
5 |
32,986,966 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1314:Depdc5
|
UTSW |
5 |
32,877,074 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1611:Depdc5
|
UTSW |
5 |
32,990,953 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1687:Depdc5
|
UTSW |
5 |
32,910,407 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
R1748:Depdc5
|
UTSW |
5 |
32,917,942 (GRCm38) |
missense |
probably benign |
0.24 |
|
R1956:Depdc5
|
UTSW |
5 |
32,903,831 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1997:Depdc5
|
UTSW |
5 |
32,901,906 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2079:Depdc5
|
UTSW |
5 |
32,946,674 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R2131:Depdc5
|
UTSW |
5 |
32,990,781 (GRCm38) |
nonsense |
probably null |
|
|
R2291:Depdc5
|
UTSW |
5 |
32,979,402 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2422:Depdc5
|
UTSW |
5 |
32,991,035 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2851:Depdc5
|
UTSW |
5 |
32,924,171 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2852:Depdc5
|
UTSW |
5 |
32,924,171 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2937:Depdc5
|
UTSW |
5 |
32,901,621 (GRCm38) |
splice site |
probably null |
|
|
R2938:Depdc5
|
UTSW |
5 |
32,901,621 (GRCm38) |
splice site |
probably null |
|
|
R2974:Depdc5
|
UTSW |
5 |
32,934,017 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3884:Depdc5
|
UTSW |
5 |
32,944,077 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3967:Depdc5
|
UTSW |
5 |
32,944,115 (GRCm38) |
nonsense |
probably null |
|
|
R4118:Depdc5
|
UTSW |
5 |
32,964,635 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4197:Depdc5
|
UTSW |
5 |
32,991,203 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4407:Depdc5
|
UTSW |
5 |
32,904,534 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4534:Depdc5
|
UTSW |
5 |
32,910,407 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
R4535:Depdc5
|
UTSW |
5 |
32,910,407 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
R4538:Depdc5
|
UTSW |
5 |
32,983,946 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4613:Depdc5
|
UTSW |
5 |
32,975,446 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4736:Depdc5
|
UTSW |
5 |
32,975,322 (GRCm38) |
missense |
probably benign |
|
|
R4738:Depdc5
|
UTSW |
5 |
32,975,322 (GRCm38) |
missense |
probably benign |
|
|
R4765:Depdc5
|
UTSW |
5 |
32,937,635 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5021:Depdc5
|
UTSW |
5 |
32,979,414 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5259:Depdc5
|
UTSW |
5 |
32,938,291 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5261:Depdc5
|
UTSW |
5 |
32,938,291 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5541:Depdc5
|
UTSW |
5 |
32,864,629 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R5594:Depdc5
|
UTSW |
5 |
32,901,490 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R5929:Depdc5
|
UTSW |
5 |
32,975,506 (GRCm38) |
nonsense |
probably null |
|
|
R6132:Depdc5
|
UTSW |
5 |
32,910,467 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6146:Depdc5
|
UTSW |
5 |
32,968,731 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6336:Depdc5
|
UTSW |
5 |
32,964,507 (GRCm38) |
splice site |
probably null |
|
|
R6468:Depdc5
|
UTSW |
5 |
32,912,231 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6911:Depdc5
|
UTSW |
5 |
32,924,192 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6969:Depdc5
|
UTSW |
5 |
32,983,860 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7002:Depdc5
|
UTSW |
5 |
32,877,158 (GRCm38) |
splice site |
probably null |
|
|
R7066:Depdc5
|
UTSW |
5 |
32,901,848 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7231:Depdc5
|
UTSW |
5 |
32,901,865 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7264:Depdc5
|
UTSW |
5 |
32,967,745 (GRCm38) |
missense |
probably benign |
|
|
R7302:Depdc5
|
UTSW |
5 |
32,979,508 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7386:Depdc5
|
UTSW |
5 |
32,927,936 (GRCm38) |
missense |
probably benign |
|
|
R7564:Depdc5
|
UTSW |
5 |
32,901,510 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7636:Depdc5
|
UTSW |
5 |
32,917,983 (GRCm38) |
missense |
probably benign |
|
|
R7795:Depdc5
|
UTSW |
5 |
32,944,103 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7845:Depdc5
|
UTSW |
5 |
32,903,915 (GRCm38) |
splice site |
probably null |
|
|
R8013:Depdc5
|
UTSW |
5 |
32,973,842 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8037:Depdc5
|
UTSW |
5 |
32,959,348 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8038:Depdc5
|
UTSW |
5 |
32,959,348 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8065:Depdc5
|
UTSW |
5 |
32,895,908 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R8067:Depdc5
|
UTSW |
5 |
32,895,908 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R8108:Depdc5
|
UTSW |
5 |
32,945,049 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8112:Depdc5
|
UTSW |
5 |
32,968,706 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R8213:Depdc5
|
UTSW |
5 |
32,937,637 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8382:Depdc5
|
UTSW |
5 |
32,927,898 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8680:Depdc5
|
UTSW |
5 |
32,944,038 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R8743:Depdc5
|
UTSW |
5 |
32,924,243 (GRCm38) |
missense |
probably benign |
0.10 |
|
R8754:Depdc5
|
UTSW |
5 |
32,979,537 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9157:Depdc5
|
UTSW |
5 |
32,945,108 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9364:Depdc5
|
UTSW |
5 |
32,964,732 (GRCm38) |
missense |
probably benign |
|
|
R9441:Depdc5
|
UTSW |
5 |
32,937,698 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9450:Depdc5
|
UTSW |
5 |
32,934,010 (GRCm38) |
missense |
probably benign |
|
|
R9459:Depdc5
|
UTSW |
5 |
32,990,773 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9554:Depdc5
|
UTSW |
5 |
32,964,732 (GRCm38) |
missense |
probably benign |
|
|
R9569:Depdc5
|
UTSW |
5 |
32,867,977 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9647:Depdc5
|
UTSW |
5 |
32,924,223 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9688:Depdc5
|
UTSW |
5 |
32,897,932 (GRCm38) |
nonsense |
probably null |
|
|
X0027:Depdc5
|
UTSW |
5 |
32,904,292 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Depdc5
|
UTSW |
5 |
32,943,282 (GRCm38) |
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 |
Incidental Mutation