Incidental Mutation 'R0179:Depdc5'
| ID |
23029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Depdc5
|
| Ensembl Gene |
ENSMUSG00000037426 |
| Gene Name |
DEP domain containing 5 |
| Synonyms |
|
| MMRRC Submission |
038447-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0179 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
32863701-32994236 bp(+) (GRCm38) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 32901574 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 |
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: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
98% (81/83) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700022I11Rik |
T |
C |
4: 42,972,214 (GRCm38) |
S516P |
probably benign |
Het |
| 4932431P20Rik |
A |
G |
7: 29,535,940 (GRCm38) |
|
noncoding transcript |
Het |
| Adamts1 |
C |
T |
16: 85,795,465 (GRCm38) |
S948N |
probably benign |
Het |
| Adck1 |
A |
T |
12: 88,459,172 (GRCm38) |
M457L |
possibly damaging |
Het |
| Adprm |
A |
T |
11: 67,038,225 (GRCm38) |
H313Q |
possibly damaging |
Het |
| Adssl1 |
T |
C |
12: 112,632,269 (GRCm38) |
I104T |
probably benign |
Het |
| Agxt2 |
A |
C |
15: 10,399,048 (GRCm38) |
Q435P |
possibly damaging |
Het |
| Amotl1 |
G |
A |
9: 14,548,773 (GRCm38) |
A890V |
probably benign |
Het |
| Ankrd50 |
A |
G |
3: 38,455,314 (GRCm38) |
V968A |
possibly damaging |
Het |
| Brf2 |
T |
C |
8: 27,125,868 (GRCm38) |
D163G |
possibly damaging |
Het |
| Cd226 |
C |
A |
18: 89,207,139 (GRCm38) |
N53K |
probably benign |
Het |
| Cdc42ep2 |
T |
C |
19: 5,918,608 (GRCm38) |
D23G |
probably benign |
Het |
| Cdc7 |
T |
C |
5: 106,965,039 (GRCm38) |
S8P |
probably benign |
Het |
| Cdh8 |
C |
T |
8: 99,111,712 (GRCm38) |
E499K |
possibly damaging |
Het |
| Chd7 |
T |
A |
4: 8,862,516 (GRCm38) |
F2534L |
probably benign |
Het |
| Ckb |
T |
C |
12: 111,670,176 (GRCm38) |
T255A |
probably benign |
Het |
| Cntnap5c |
G |
T |
17: 57,769,625 (GRCm38) |
W19L |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,167,859 (GRCm38) |
E1854G |
probably benign |
Het |
| Colec12 |
C |
T |
18: 9,858,921 (GRCm38) |
P568L |
unknown |
Het |
| Cop1 |
A |
G |
1: 159,250,066 (GRCm38) |
D157G |
probably benign |
Het |
| Csf2rb |
A |
C |
15: 78,336,372 (GRCm38) |
Q38P |
possibly damaging |
Het |
| Ctla2b |
T |
C |
13: 60,896,293 (GRCm38) |
D52G |
possibly damaging |
Het |
| Dcaf7 |
A |
T |
11: 106,051,797 (GRCm38) |
D190V |
probably damaging |
Het |
| Dgkq |
A |
G |
5: 108,658,200 (GRCm38) |
|
probably benign |
Het |
| Dhrs2 |
A |
G |
14: 55,240,476 (GRCm38) |
T222A |
probably damaging |
Het |
| Dock1 |
G |
A |
7: 135,098,837 (GRCm38) |
D1109N |
probably damaging |
Het |
| E4f1 |
G |
C |
17: 24,451,437 (GRCm38) |
T92S |
possibly damaging |
Het |
| Ep400 |
A |
T |
5: 110,668,649 (GRCm38) |
S2669T |
probably damaging |
Het |
| Eprs |
T |
G |
1: 185,413,547 (GRCm38) |
D1184E |
probably benign |
Het |
| Fpr-rs4 |
A |
T |
17: 18,022,027 (GRCm38) |
K99* |
probably null |
Het |
| Fzr1 |
A |
T |
10: 81,369,070 (GRCm38) |
|
probably benign |
Het |
| Gcc2 |
C |
T |
10: 58,276,650 (GRCm38) |
R1001C |
probably benign |
Het |
| Gm4884 |
A |
G |
7: 41,043,828 (GRCm38) |
D407G |
probably benign |
Het |
| Golga4 |
A |
T |
9: 118,560,740 (GRCm38) |
|
probably null |
Het |
| Gp2 |
T |
G |
7: 119,452,317 (GRCm38) |
D225A |
possibly damaging |
Het |
| Gramd1a |
T |
A |
7: 31,142,418 (GRCm38) |
T120S |
probably damaging |
Het |
| Hbb-bh2 |
T |
A |
7: 103,839,227 (GRCm38) |
N121I |
probably benign |
Het |
| Htr6 |
A |
T |
4: 139,062,126 (GRCm38) |
L276Q |
probably damaging |
Het |
| Itga9 |
A |
T |
9: 118,661,386 (GRCm38) |
I262F |
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,915,084 (GRCm38) |
|
probably benign |
Het |
| Large1 |
T |
C |
8: 73,098,846 (GRCm38) |
N200S |
probably benign |
Het |
| Lct |
C |
T |
1: 128,327,685 (GRCm38) |
V207I |
probably benign |
Het |
| Marf1 |
C |
A |
16: 14,151,176 (GRCm38) |
L144F |
probably damaging |
Het |
| Morc2b |
A |
T |
17: 33,136,982 (GRCm38) |
Y605* |
probably null |
Het |
| Mtus1 |
G |
T |
8: 41,002,361 (GRCm38) |
L87I |
possibly damaging |
Het |
| Muc2 |
A |
G |
7: 141,748,971 (GRCm38) |
Y17C |
probably damaging |
Het |
| Myf5 |
T |
C |
10: 107,485,918 (GRCm38) |
D5G |
possibly damaging |
Het |
| Nasp |
C |
T |
4: 116,602,157 (GRCm38) |
V375M |
probably damaging |
Het |
| Nr1h2 |
A |
T |
7: 44,552,265 (GRCm38) |
|
probably null |
Het |
| Nrg2 |
T |
C |
18: 36,022,415 (GRCm38) |
Q447R |
probably benign |
Het |
| Ntn5 |
G |
A |
7: 45,686,313 (GRCm38) |
G56D |
probably damaging |
Het |
| Oasl2 |
A |
G |
5: 114,910,912 (GRCm38) |
R138G |
probably benign |
Het |
| Olfr1209 |
A |
T |
2: 88,909,893 (GRCm38) |
C167S |
possibly damaging |
Het |
| Olfr1489 |
T |
A |
19: 13,633,140 (GRCm38) |
F10I |
probably damaging |
Het |
| Olfr827 |
T |
C |
10: 130,210,338 (GRCm38) |
Y264C |
probably damaging |
Het |
| Pcdhb5 |
G |
A |
18: 37,322,559 (GRCm38) |
G664D |
probably damaging |
Het |
| Ppp1r15a |
T |
C |
7: 45,525,000 (GRCm38) |
E128G |
probably damaging |
Het |
| Prpf19 |
T |
C |
19: 10,897,808 (GRCm38) |
|
probably benign |
Het |
| Ptpn3 |
T |
A |
4: 57,270,118 (GRCm38) |
T15S |
probably benign |
Het |
| R3hdm2 |
G |
A |
10: 127,495,106 (GRCm38) |
C818Y |
probably damaging |
Het |
| Rad51d |
A |
G |
11: 82,889,998 (GRCm38) |
V39A |
possibly damaging |
Het |
| Rptor |
A |
T |
11: 119,872,367 (GRCm38) |
T926S |
probably benign |
Het |
| Rwdd4a |
G |
A |
8: 47,542,707 (GRCm38) |
D41N |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,899,560 (GRCm38) |
T250A |
probably benign |
Het |
| Ssbp3 |
T |
C |
4: 107,046,388 (GRCm38) |
S334P |
probably damaging |
Het |
| Suco |
A |
G |
1: 161,876,305 (GRCm38) |
|
probably benign |
Het |
| Synj1 |
T |
C |
16: 90,964,631 (GRCm38) |
K649R |
possibly damaging |
Het |
| Tdp2 |
C |
T |
13: 24,840,448 (GRCm38) |
H243Y |
possibly damaging |
Het |
| Tinag |
A |
G |
9: 76,996,882 (GRCm38) |
|
probably benign |
Het |
| Trerf1 |
T |
C |
17: 47,316,662 (GRCm38) |
|
noncoding transcript |
Het |
| Trip10 |
T |
C |
17: 57,262,349 (GRCm38) |
|
probably benign |
Het |
| Tsen54 |
A |
T |
11: 115,822,030 (GRCm38) |
S131C |
probably damaging |
Het |
| Unc5c |
A |
T |
3: 141,818,067 (GRCm38) |
R794* |
probably null |
Het |
| Vmn2r59 |
A |
T |
7: 42,047,008 (GRCm38) |
Y103* |
probably null |
Het |
| Washc5 |
A |
G |
15: 59,352,530 (GRCm38) |
V460A |
probably benign |
Het |
| Whamm |
A |
G |
7: 81,594,015 (GRCm38) |
T358A |
probably benign |
Het |
| Xlr4b |
C |
T |
X: 73,218,671 (GRCm38) |
|
probably benign |
Het |
| Zbbx |
C |
T |
3: 75,085,562 (GRCm38) |
|
probably benign |
Het |
| Zdhhc23 |
G |
A |
16: 43,973,703 (GRCm38) |
P203S |
probably benign |
Het |
| Zfp27 |
T |
A |
7: 29,896,425 (GRCm38) |
E38D |
possibly damaging |
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 |
|
|
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 |
|
R1903:Depdc5
|
UTSW |
5 |
32,910,407 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
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'- CCTCTCTTGAAACTTTGTCATGAGCCTG -3'
(R):5'- CCTTGTGCTGAGGTAGAATTGTCTCC -3'
Sequencing Primer
(F):5'- ACTTTGTCATGAGCCTGATAGC -3'
(R):5'- gctaggtggtggaggctc -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation