Incidental Mutation 'R7231:Depdc5'
| ID |
562454 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Depdc5
|
| Ensembl Gene |
ENSMUSG00000037426 |
| Gene Name |
DEP domain containing 5 |
| Synonyms |
|
| MMRRC Submission |
045342-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7231 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
32863701-32994236 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 32901865 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 303
(Q303K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113862
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049780]
[ENSMUST00000087897]
[ENSMUST00000119705]
[ENSMUST00000120902]
[ENSMUST00000195980]
|
| AlphaFold |
P61460 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049780
AA Change: Q303K
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000052807
Gene: ENSMUSG00000037426
AA Change: Q303K
| 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
AA Change: Q303K
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000085207
Gene: ENSMUSG00000037426
AA Change: Q303K
| 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 |
possibly damaging
Transcript: ENSMUST00000119705
AA Change: Q303K
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113862
Gene: ENSMUSG00000037426
AA Change: Q303K
| 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 |
possibly damaging
Transcript: ENSMUST00000120902
AA Change: Q303K
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113980
Gene: ENSMUSG00000037426
AA Change: Q303K
| 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: ENSMUST00000195980
|
| SMART Domains |
Protein: ENSMUSP00000143228
Gene: ENSMUSG00000037426
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3608
|
100 |
147 |
4e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201836
|
| Meta Mutation Damage Score |
0.1706 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (78/80) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,294,175 (GRCm38) |
T2013S |
probably benign |
Het |
| Ablim3 |
A |
G |
18: 61,805,064 (GRCm38) |
|
probably null |
Het |
| Acvrl1 |
T |
A |
15: 101,136,223 (GRCm38) |
C206* |
probably null |
Het |
| Adamts15 |
C |
A |
9: 30,906,158 (GRCm38) |
R541S |
probably damaging |
Het |
| Add3 |
A |
G |
19: 53,233,146 (GRCm38) |
I230V |
probably benign |
Het |
| Ankrd27 |
A |
G |
7: 35,628,446 (GRCm38) |
D742G |
possibly damaging |
Het |
| Asxl3 |
A |
G |
18: 22,517,540 (GRCm38) |
E862G |
probably damaging |
Het |
| Asxl3 |
A |
T |
18: 22,411,499 (GRCm38) |
|
probably null |
Het |
| Atp2b2 |
G |
A |
6: 113,765,732 (GRCm38) |
T798M |
possibly damaging |
Het |
| Car12 |
T |
C |
9: 66,752,317 (GRCm38) |
I208T |
probably damaging |
Het |
| Cgn |
T |
A |
3: 94,773,192 (GRCm38) |
Q600L |
probably damaging |
Het |
| Cgnl1 |
C |
T |
9: 71,632,645 (GRCm38) |
A1106T |
probably benign |
Het |
| Cmtr2 |
T |
C |
8: 110,222,546 (GRCm38) |
V496A |
probably benign |
Het |
| Cplx4 |
C |
A |
18: 65,957,052 (GRCm38) |
D99Y |
probably damaging |
Het |
| Cyfip2 |
T |
C |
11: 46,224,136 (GRCm38) |
T915A |
probably benign |
Het |
| Cyp4a32 |
T |
C |
4: 115,609,697 (GRCm38) |
L193P |
probably damaging |
Het |
| Dennd5b |
C |
T |
6: 149,044,604 (GRCm38) |
R503Q |
probably damaging |
Het |
| Dlx1 |
T |
A |
2: 71,532,496 (GRCm38) |
M249K |
possibly damaging |
Het |
| Dnah10 |
A |
T |
5: 124,813,828 (GRCm38) |
E3218V |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,965,647 (GRCm38) |
D2896G |
probably damaging |
Het |
| Dtx4 |
C |
A |
19: 12,469,658 (GRCm38) |
G557* |
probably null |
Het |
| Eps8l2 |
A |
G |
7: 141,360,392 (GRCm38) |
N512D |
probably damaging |
Het |
| Fam20a |
T |
C |
11: 109,721,375 (GRCm38) |
D114G |
possibly damaging |
Het |
| Fbln1 |
T |
C |
15: 85,206,152 (GRCm38) |
S7P |
unknown |
Het |
| Fli1 |
T |
C |
9: 32,424,188 (GRCm38) |
E316G |
probably damaging |
Het |
| Fmn2 |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
1: 174,609,203 (GRCm38) |
|
probably benign |
Het |
| Haus8 |
G |
A |
8: 71,253,137 (GRCm38) |
T302I |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,638,876 (GRCm38) |
I3582V |
probably benign |
Het |
| Hnrnpul1 |
G |
A |
7: 25,748,417 (GRCm38) |
Q161* |
probably null |
Het |
| Hsf4 |
C |
T |
8: 105,272,147 (GRCm38) |
A223V |
probably damaging |
Het |
| Ighg2c |
A |
G |
12: 113,288,016 (GRCm38) |
W164R |
|
Het |
| Isl1 |
A |
G |
13: 116,303,290 (GRCm38) |
V174A |
probably benign |
Het |
| Itih4 |
A |
T |
14: 30,896,614 (GRCm38) |
I661F |
probably benign |
Het |
| Klhl14 |
A |
T |
18: 21,652,136 (GRCm38) |
L78Q |
probably damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,339,282 (GRCm38) |
I177F |
unknown |
Het |
| Lingo3 |
T |
A |
10: 80,835,104 (GRCm38) |
T331S |
possibly damaging |
Het |
| Lrrc36 |
T |
C |
8: 105,461,057 (GRCm38) |
V535A |
possibly damaging |
Het |
| Mapk8ip2 |
T |
G |
15: 89,458,076 (GRCm38) |
S497A |
probably benign |
Het |
| Mbip |
A |
G |
12: 56,337,762 (GRCm38) |
|
probably null |
Het |
| Nelfa |
C |
T |
5: 33,898,825 (GRCm38) |
G498D |
probably damaging |
Het |
| Nherf2 |
C |
T |
17: 24,650,104 (GRCm38) |
R16H |
probably damaging |
Het |
| Nlrc5 |
T |
A |
8: 94,521,805 (GRCm38) |
|
probably null |
Het |
| Or2ag2b |
A |
T |
7: 106,818,443 (GRCm38) |
Y120F |
probably damaging |
Het |
| Or4f59 |
A |
T |
2: 112,042,366 (GRCm38) |
V222D |
probably damaging |
Het |
| Or56a3 |
T |
C |
7: 105,085,787 (GRCm38) |
S24P |
possibly damaging |
Het |
| Or7e171-ps1 |
T |
A |
9: 19,941,559 (GRCm38) |
T294S |
unknown |
Het |
| Pde2a |
A |
G |
7: 101,505,953 (GRCm38) |
Y567C |
probably damaging |
Het |
| Pdia4 |
A |
T |
6: 47,800,957 (GRCm38) |
F367Y |
probably benign |
Het |
| Pkdrej |
C |
A |
15: 85,816,188 (GRCm38) |
C1849F |
possibly damaging |
Het |
| Plekhj1 |
T |
G |
10: 80,797,658 (GRCm38) |
T52P |
probably damaging |
Het |
| Ppp2r5d |
A |
T |
17: 46,684,060 (GRCm38) |
Y572N |
probably benign |
Het |
| Prkcq |
T |
A |
2: 11,290,451 (GRCm38) |
Y570* |
probably null |
Het |
| Ptpn3 |
T |
A |
4: 57,245,062 (GRCm38) |
D226V |
probably damaging |
Het |
| Rab1b |
A |
G |
19: 5,105,201 (GRCm38) |
S22P |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,604,191 (GRCm38) |
S2060P |
probably damaging |
Het |
| Rnf148 |
G |
T |
6: 23,654,891 (GRCm38) |
S35R |
probably benign |
Het |
| Runx2 |
G |
A |
17: 44,814,192 (GRCm38) |
P80L |
probably damaging |
Het |
| Samd15 |
T |
A |
12: 87,201,044 (GRCm38) |
S168T |
possibly damaging |
Het |
| Slc26a4 |
T |
A |
12: 31,547,946 (GRCm38) |
N167I |
probably damaging |
Het |
| Slc39a1 |
C |
A |
3: 90,251,790 (GRCm38) |
H141Q |
probably benign |
Het |
| Snx21 |
T |
C |
2: 164,786,201 (GRCm38) |
S46P |
probably benign |
Het |
| Strip2 |
A |
G |
6: 29,944,487 (GRCm38) |
S657G |
probably damaging |
Het |
| Stxbp3 |
G |
A |
3: 108,800,809 (GRCm38) |
P392L |
probably damaging |
Het |
| Suclg1 |
G |
A |
6: 73,263,971 (GRCm38) |
R161H |
probably benign |
Het |
| Tas1r3 |
T |
C |
4: 155,862,826 (GRCm38) |
Y134C |
probably damaging |
Het |
| Tgif1 |
T |
A |
17: 70,846,173 (GRCm38) |
Q114L |
probably damaging |
Het |
| Tll2 |
A |
G |
19: 41,086,234 (GRCm38) |
F964L |
probably benign |
Het |
| Tmem181a |
T |
C |
17: 6,297,920 (GRCm38) |
S247P |
possibly damaging |
Het |
| Trav23 |
A |
T |
14: 53,977,568 (GRCm38) |
R79S |
probably damaging |
Het |
| Trf |
C |
A |
9: 103,225,148 (GRCm38) |
C177F |
probably damaging |
Het |
| Triml1 |
T |
C |
8: 43,136,371 (GRCm38) |
Y260C |
probably benign |
Het |
| Tulp4 |
T |
C |
17: 6,236,235 (GRCm38) |
F1513L |
probably benign |
Het |
| Umodl1 |
G |
A |
17: 30,986,116 (GRCm38) |
V562I |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,759,763 (GRCm38) |
K3083R |
possibly damaging |
Het |
| Vmn1r74 |
A |
T |
7: 11,846,961 (GRCm38) |
I63F |
probably benign |
Het |
| Vmn2r38 |
C |
T |
7: 9,097,638 (GRCm38) |
C43Y |
possibly damaging |
Het |
| Vmn2r50 |
A |
T |
7: 10,053,083 (GRCm38) |
N32K |
probably benign |
Het |
| Vps13d |
A |
G |
4: 145,057,462 (GRCm38) |
V3914A |
|
Het |
| Vwa5b2 |
A |
G |
16: 20,604,128 (GRCm38) |
T984A |
probably benign |
Het |
| Zc3h3 |
C |
T |
15: 75,840,382 (GRCm38) |
V77M |
probably damaging |
Het |
| Zfp397 |
A |
T |
18: 23,960,358 (GRCm38) |
H300L |
probably damaging |
Het |
| Zfp950 |
G |
A |
19: 61,119,212 (GRCm38) |
R478C |
probably benign |
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 |
|
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 |
|
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'- TGTGTGTCAGAGCTGCCTTC -3'
(R):5'- ACCCTATTAGAATGTACTGCTCTG -3'
Sequencing Primer
(F):5'- GTGTGGTTCAAGACACACTTTC -3'
(R):5'- GCTCTGAGATAATTTGAGGTGTAAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation