Incidental Mutation 'R8108:Depdc5'
| ID |
630722 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Depdc5
|
| Ensembl Gene |
ENSMUSG00000037426 |
| Gene Name |
DEP domain containing 5 |
| Synonyms |
|
| MMRRC Submission |
067537-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8108 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
32863701-32994236 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 32945049 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 966
(D966E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113862
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049780]
[ENSMUST00000087897]
[ENSMUST00000119705]
[ENSMUST00000120902]
[ENSMUST00000124780]
[ENSMUST00000130461]
|
| AlphaFold |
P61460 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049780
AA Change: D966E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000052807
Gene: ENSMUSG00000037426
AA Change: D966E
| 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: D975E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000085207
Gene: ENSMUSG00000037426
AA Change: D975E
| 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
AA Change: D966E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000113862
Gene: ENSMUSG00000037426
AA Change: D966E
| 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
AA Change: D966E
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000113980
Gene: ENSMUSG00000037426
AA Change: D966E
| 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
AA Change: D328E
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000120120
Gene: ENSMUSG00000037426
AA Change: D328E
| 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: ENSMUSP00000118681
Gene: ENSMUSG00000037426
AA Change: D51E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
70 |
82 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000121089
Gene: ENSMUSG00000037426
AA Change: D372E
| 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: 99.9%
- 3x: 99.7%
- 10x: 99.0%
- 20x: 97.3%
|
| Validation Efficiency |
99% (72/73) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot1 |
T |
A |
12: 84,017,361 (GRCm38) |
H414Q |
probably benign |
Het |
| Actrt2 |
A |
T |
4: 154,667,036 (GRCm38) |
D214E |
probably benign |
Het |
| Ccdc7a |
T |
C |
8: 128,980,153 (GRCm38) |
T332A |
unknown |
Het |
| Chd9 |
C |
T |
8: 90,933,224 (GRCm38) |
H271Y |
unknown |
Het |
| Dolpp1 |
A |
G |
2: 30,396,246 (GRCm38) |
Y119C |
probably benign |
Het |
| Dscam |
G |
C |
16: 96,643,879 (GRCm38) |
D1537E |
probably benign |
Het |
| Dusp16 |
A |
G |
6: 134,739,873 (GRCm38) |
I157T |
probably benign |
Het |
| Dyrk2 |
T |
C |
10: 118,859,829 (GRCm38) |
D508G |
probably benign |
Het |
| Endov |
T |
C |
11: 119,507,411 (GRCm38) |
V334A |
probably benign |
Het |
| Ep400 |
A |
T |
5: 110,687,883 (GRCm38) |
V1956E |
unknown |
Het |
| Erich3 |
A |
T |
3: 154,720,115 (GRCm38) |
Y83F |
possibly damaging |
Het |
| Fbrsl1 |
T |
C |
5: 110,378,379 (GRCm38) |
|
probably null |
Het |
| Gm1110 |
T |
C |
9: 26,920,661 (GRCm38) |
I65V |
probably damaging |
Het |
| Gm28374 |
A |
G |
19: 6,082,200 (GRCm38) |
V19A |
|
Het |
| Gm436 |
A |
T |
4: 144,670,669 (GRCm38) |
N164K |
probably benign |
Het |
| Gpr107 |
C |
A |
2: 31,184,869 (GRCm38) |
H336Q |
probably damaging |
Het |
| Gpr137b |
T |
C |
13: 13,359,406 (GRCm38) |
Y355C |
|
Het |
| Grm1 |
C |
A |
10: 10,720,132 (GRCm38) |
R584L |
probably benign |
Het |
| Gse1 |
T |
C |
8: 120,229,810 (GRCm38) |
S347P |
unknown |
Het |
| Ier3ip1 |
T |
A |
18: 76,940,525 (GRCm38) |
I69K |
possibly damaging |
Het |
| Impact |
T |
G |
18: 12,984,331 (GRCm38) |
L154V |
probably benign |
Het |
| Katnb1 |
T |
C |
8: 95,093,945 (GRCm38) |
F141S |
possibly damaging |
Het |
| Kifap3 |
T |
A |
1: 163,797,362 (GRCm38) |
N162K |
probably damaging |
Het |
| Klhl5 |
A |
G |
5: 65,148,587 (GRCm38) |
|
probably null |
Het |
| Klre1 |
A |
G |
6: 129,584,222 (GRCm38) |
D182G |
probably benign |
Het |
| Krt42 |
T |
A |
11: 100,266,957 (GRCm38) |
Y227F |
probably benign |
Het |
| Lhcgr |
T |
A |
17: 88,742,050 (GRCm38) |
K683* |
probably null |
Het |
| Lrrc37a |
G |
A |
11: 103,503,057 (GRCm38) |
S514F |
probably benign |
Het |
| Lrrc9 |
G |
T |
12: 72,454,059 (GRCm38) |
L186F |
probably damaging |
Het |
| Metrn |
A |
G |
17: 25,795,030 (GRCm38) |
V274A |
probably benign |
Het |
| Mettl25 |
A |
T |
10: 105,823,179 (GRCm38) |
F414L |
possibly damaging |
Het |
| Mixl1 |
A |
G |
1: 180,696,702 (GRCm38) |
V104A |
probably damaging |
Het |
| Myo9b |
T |
A |
8: 71,348,342 (GRCm38) |
M1047K |
probably damaging |
Het |
| Nbea |
G |
A |
3: 55,819,315 (GRCm38) |
A2081V |
probably benign |
Het |
| Ndufs1 |
A |
T |
1: 63,150,012 (GRCm38) |
D551E |
possibly damaging |
Het |
| Nectin3 |
T |
C |
16: 46,464,121 (GRCm38) |
T67A |
possibly damaging |
Het |
| Nme8 |
C |
T |
13: 19,650,960 (GRCm38) |
V519I |
probably benign |
Het |
| Npat |
G |
T |
9: 53,571,129 (GRCm38) |
G1379V |
probably benign |
Het |
| Obscn |
T |
A |
11: 59,061,634 (GRCm38) |
T3870S |
probably benign |
Het |
| Olfr1000 |
T |
C |
2: 85,608,749 (GRCm38) |
R54G |
possibly damaging |
Het |
| Olfr1288 |
T |
C |
2: 111,479,234 (GRCm38) |
V150A |
possibly damaging |
Het |
| Olfr177 |
T |
C |
16: 58,872,236 (GRCm38) |
M305V |
probably benign |
Het |
| Olfr379-ps1 |
T |
A |
11: 73,433,854 (GRCm38) |
H124L |
unknown |
Het |
| Olfr871 |
T |
A |
9: 20,212,451 (GRCm38) |
M34K |
possibly damaging |
Het |
| Olfr910 |
A |
G |
9: 38,539,410 (GRCm38) |
N172D |
probably damaging |
Het |
| Parp8 |
A |
T |
13: 116,867,073 (GRCm38) |
Y769* |
probably null |
Het |
| Pcnx |
C |
T |
12: 81,918,819 (GRCm38) |
R59* |
probably null |
Het |
| Pdzd2 |
G |
A |
15: 12,373,506 (GRCm38) |
S2181L |
probably benign |
Het |
| Phldb1 |
T |
C |
9: 44,711,161 (GRCm38) |
E65G |
probably damaging |
Het |
| Ppif |
C |
T |
14: 25,698,326 (GRCm38) |
T157M |
probably damaging |
Het |
| Ppp3ca |
T |
A |
3: 136,932,225 (GRCm38) |
|
probably null |
Het |
| Proser1 |
T |
A |
3: 53,472,088 (GRCm38) |
|
probably null |
Het |
| Reg3d |
T |
A |
6: 78,376,079 (GRCm38) |
K174* |
probably null |
Het |
| Rubcn |
A |
T |
16: 32,856,950 (GRCm38) |
L55Q |
probably damaging |
Het |
| Sec14l3 |
T |
C |
11: 4,066,198 (GRCm38) |
L39P |
probably damaging |
Het |
| Ska3 |
A |
G |
14: 57,826,102 (GRCm38) |
I4T |
probably damaging |
Het |
| Slc30a10 |
A |
G |
1: 185,464,154 (GRCm38) |
I338V |
possibly damaging |
Het |
| Slc35g1 |
T |
A |
19: 38,402,831 (GRCm38) |
L187H |
probably damaging |
Het |
| Slc35g1 |
C |
G |
19: 38,402,829 (GRCm38) |
S186R |
probably damaging |
Het |
| Spata5 |
T |
C |
3: 37,431,782 (GRCm38) |
S218P |
probably benign |
Het |
| Tbc1d5 |
T |
C |
17: 50,742,086 (GRCm38) |
I659V |
probably benign |
Het |
| Tbl3 |
G |
T |
17: 24,700,916 (GRCm38) |
D751E |
probably benign |
Het |
| Tdrd3 |
T |
A |
14: 87,486,266 (GRCm38) |
D311E |
possibly damaging |
Het |
| Tenm4 |
T |
C |
7: 96,854,728 (GRCm38) |
F1335S |
probably benign |
Het |
| Tm2d1 |
A |
T |
4: 98,375,023 (GRCm38) |
C83S |
probably damaging |
Het |
| Tnfrsf22 |
A |
T |
7: 143,638,373 (GRCm38) |
V192D |
unknown |
Het |
| Trpm6 |
A |
G |
19: 18,811,790 (GRCm38) |
T575A |
probably damaging |
Het |
| Uri1 |
T |
C |
7: 37,981,673 (GRCm38) |
D102G |
possibly damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,103,050 (GRCm38) |
C570S |
probably damaging |
Het |
| Vps13a |
C |
T |
19: 16,640,787 (GRCm38) |
V2906I |
probably damaging |
Het |
| Zfp472 |
T |
C |
17: 32,978,003 (GRCm38) |
Y351H |
possibly damaging |
Het |
| Zfp874a |
G |
T |
13: 67,443,234 (GRCm38) |
Y110* |
probably null |
Het |
| Zfp986 |
T |
A |
4: 145,899,305 (GRCm38) |
N178K |
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 |
|
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 |
|
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'- CTTGCACCAGCTTCAGAGAG -3'
(R):5'- GGGTAGTCATGGGATACATCAC -3'
Sequencing Primer
(F):5'- GAGCTCCCTGGAAGGACTCTTATTAC -3'
(R):5'- TAGTCATGGGATACATCACCTGGC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation