Incidental Mutation 'R4736:Depdc5'
| ID |
359237 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Depdc5
|
| Ensembl Gene |
ENSMUSG00000037426 |
| Gene Name |
DEP domain containing 5 |
| Synonyms |
|
| MMRRC Submission |
041963-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4736 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
32863701-32994236 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32975322 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 1237
(M1237V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113980
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087897]
[ENSMUST00000119705]
[ENSMUST00000120902]
[ENSMUST00000124780]
|
| AlphaFold |
P61460 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087897
AA Change: M1268V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000085207
Gene: ENSMUSG00000037426
AA Change: M1268V
| 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: M1259V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113862
Gene: ENSMUSG00000037426
AA Change: M1259V
| 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: M1237V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113980
Gene: ENSMUSG00000037426
AA Change: M1237V
| 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 |
silent
Transcript: ENSMUST00000124780
|
| SMART Domains |
Protein: ENSMUSP00000120120
Gene: ENSMUSG00000037426
| 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 |
noncoding transcript
Transcript: ENSMUST00000127560
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000137169
AA Change: M643V
|
| SMART Domains |
Protein: ENSMUSP00000121089
Gene: ENSMUSG00000037426
AA Change: M643V
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.4%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 138,068,485 (GRCm38) |
I1145T |
probably damaging |
Het |
| Aadat |
T |
C |
8: 60,540,106 (GRCm38) |
V360A |
probably benign |
Het |
| Abhd16a |
A |
T |
17: 35,101,883 (GRCm38) |
T436S |
probably benign |
Het |
| Acbd5 |
G |
T |
2: 23,099,584 (GRCm38) |
L406F |
probably damaging |
Het |
| Agrn |
G |
A |
4: 156,172,401 (GRCm38) |
T1142M |
probably benign |
Het |
| Aig1 |
C |
A |
10: 13,801,930 (GRCm38) |
W106L |
probably damaging |
Het |
| Akr1d1 |
T |
C |
6: 37,557,600 (GRCm38) |
|
probably null |
Het |
| Ap1g1 |
G |
A |
8: 109,855,082 (GRCm38) |
D658N |
possibly damaging |
Het |
| Arhgap45 |
A |
G |
10: 80,026,172 (GRCm38) |
Y520C |
probably damaging |
Het |
| Arhgap5 |
A |
T |
12: 52,519,077 (GRCm38) |
M944L |
probably benign |
Het |
| Asic5 |
C |
T |
3: 81,999,809 (GRCm38) |
T47I |
possibly damaging |
Het |
| BC052040 |
A |
G |
2: 115,581,888 (GRCm38) |
I2V |
probably benign |
Het |
| Cabp5 |
A |
G |
7: 13,400,739 (GRCm38) |
|
probably null |
Het |
| Ccr6 |
A |
T |
17: 8,256,064 (GRCm38) |
R34* |
probably null |
Het |
| Clec4a2 |
T |
C |
6: 123,140,663 (GRCm38) |
I180T |
probably damaging |
Het |
| Cmtr1 |
A |
G |
17: 29,700,242 (GRCm38) |
E704G |
possibly damaging |
Het |
| Cyth3 |
G |
A |
5: 143,684,479 (GRCm38) |
|
probably null |
Het |
| Dbt |
T |
C |
3: 116,539,132 (GRCm38) |
I200T |
probably damaging |
Het |
| Dennd6b |
T |
C |
15: 89,185,592 (GRCm38) |
H468R |
probably benign |
Het |
| Dpp6 |
A |
G |
5: 27,712,659 (GRCm38) |
Y616C |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,006,862 (GRCm38) |
S3710T |
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 138,198,097 (GRCm38) |
S1584T |
probably benign |
Het |
| Emc3 |
G |
A |
6: 113,531,349 (GRCm38) |
T45I |
possibly damaging |
Het |
| Esf1 |
T |
A |
2: 140,124,971 (GRCm38) |
D685V |
probably damaging |
Het |
| Ezr |
A |
G |
17: 6,741,576 (GRCm38) |
S366P |
probably benign |
Het |
| Gbe1 |
C |
T |
16: 70,495,253 (GRCm38) |
A491V |
probably damaging |
Het |
| Haus6 |
A |
G |
4: 86,600,749 (GRCm38) |
|
probably null |
Het |
| Heca |
G |
A |
10: 17,915,187 (GRCm38) |
Q12* |
probably null |
Het |
| Hpdl |
T |
C |
4: 116,821,024 (GRCm38) |
N80S |
probably damaging |
Het |
| Hydin |
A |
T |
8: 110,523,208 (GRCm38) |
Q2261L |
probably benign |
Het |
| Itgae |
G |
T |
11: 73,114,880 (GRCm38) |
R290L |
possibly damaging |
Het |
| Kcna10 |
C |
A |
3: 107,195,492 (GRCm38) |
L480I |
probably benign |
Het |
| Kif27 |
T |
C |
13: 58,328,971 (GRCm38) |
T622A |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,204,929 (GRCm38) |
N966S |
probably damaging |
Het |
| Mdfic |
A |
G |
6: 15,741,020 (GRCm38) |
K38E |
possibly damaging |
Het |
| Med25 |
G |
A |
7: 44,892,288 (GRCm38) |
A26V |
probably damaging |
Het |
| Mrpl19 |
A |
T |
6: 81,964,348 (GRCm38) |
S77R |
probably damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,512,547 (GRCm38) |
D493G |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,240,920 (GRCm38) |
T69A |
probably benign |
Het |
| Myo16 |
G |
T |
8: 10,373,527 (GRCm38) |
G288W |
probably damaging |
Het |
| Myo9b |
T |
C |
8: 71,356,592 (GRCm38) |
L1815P |
probably damaging |
Het |
| Myom2 |
T |
A |
8: 15,081,271 (GRCm38) |
L323Q |
probably damaging |
Het |
| Naip1 |
T |
C |
13: 100,444,526 (GRCm38) |
D71G |
possibly damaging |
Het |
| Nktr |
T |
A |
9: 121,749,739 (GRCm38) |
|
probably benign |
Het |
| Nol10 |
A |
G |
12: 17,355,287 (GRCm38) |
K88E |
probably damaging |
Het |
| Nol4 |
T |
C |
18: 22,718,993 (GRCm38) |
D505G |
probably damaging |
Het |
| Nynrin |
T |
A |
14: 55,863,997 (GRCm38) |
N374K |
probably damaging |
Het |
| Obscn |
A |
T |
11: 59,063,536 (GRCm38) |
L3740Q |
probably damaging |
Het |
| Olfr1000 |
T |
C |
2: 85,607,983 (GRCm38) |
H309R |
probably benign |
Het |
| Otub2 |
T |
A |
12: 103,392,844 (GRCm38) |
L64Q |
probably benign |
Het |
| Pgm5 |
G |
A |
19: 24,834,805 (GRCm38) |
A121V |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,377,175 (GRCm38) |
Y120N |
probably benign |
Het |
| Rpl36al |
G |
A |
12: 69,182,958 (GRCm38) |
A60V |
possibly damaging |
Het |
| Rspo4 |
T |
C |
2: 151,843,134 (GRCm38) |
Y21H |
probably benign |
Het |
| Scube2 |
A |
G |
7: 109,831,205 (GRCm38) |
V455A |
probably benign |
Het |
| Serpina1f |
T |
C |
12: 103,693,546 (GRCm38) |
D159G |
probably damaging |
Het |
| Sf1 |
A |
G |
19: 6,365,664 (GRCm38) |
D11G |
probably damaging |
Het |
| Siglecg |
T |
C |
7: 43,417,908 (GRCm38) |
F633S |
probably benign |
Het |
| Skiv2l |
A |
G |
17: 34,848,197 (GRCm38) |
S89P |
possibly damaging |
Het |
| Slc22a13 |
T |
C |
9: 119,193,632 (GRCm38) |
E501G |
probably damaging |
Het |
| Slc44a3 |
A |
G |
3: 121,510,206 (GRCm38) |
S294P |
probably damaging |
Het |
| Smad3 |
T |
G |
9: 63,757,560 (GRCm38) |
K40Q |
probably damaging |
Het |
| Soga1 |
T |
A |
2: 157,020,554 (GRCm38) |
D1485V |
probably damaging |
Het |
| Stt3a |
T |
A |
9: 36,749,712 (GRCm38) |
M268L |
probably benign |
Het |
| Taf4 |
A |
T |
2: 179,924,494 (GRCm38) |
V817E |
probably damaging |
Het |
| Tgfbr1 |
A |
G |
4: 47,383,835 (GRCm38) |
T58A |
probably benign |
Het |
| Trpc6 |
T |
C |
9: 8,609,870 (GRCm38) |
V113A |
probably damaging |
Het |
| Ttll13 |
T |
A |
7: 80,248,276 (GRCm38) |
|
probably null |
Het |
| Uba7 |
T |
C |
9: 107,980,165 (GRCm38) |
L742P |
probably benign |
Het |
| Ulk2 |
A |
G |
11: 61,833,435 (GRCm38) |
L174P |
probably damaging |
Het |
| Unc5c |
A |
T |
3: 141,816,931 (GRCm38) |
Y706F |
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,649,672 (GRCm38) |
|
probably null |
Het |
| Usp34 |
T |
A |
11: 23,393,749 (GRCm38) |
|
probably null |
Het |
| Vmn1r71 |
A |
T |
7: 10,747,864 (GRCm38) |
V233D |
possibly damaging |
Het |
| Xpo6 |
T |
C |
7: 126,140,583 (GRCm38) |
K439R |
probably benign |
Het |
| Xrn1 |
G |
T |
9: 96,033,636 (GRCm38) |
G1271C |
probably damaging |
Het |
| Yes1 |
A |
T |
5: 32,660,777 (GRCm38) |
E386V |
probably damaging |
Het |
| Zfp759 |
C |
A |
13: 67,139,344 (GRCm38) |
H320N |
probably damaging |
Het |
| Zfp990 |
A |
T |
4: 145,536,942 (GRCm38) |
H170L |
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 |
|
|
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 |
|
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'- GCAGTATTGAACAACCACTACTTC -3'
(R):5'- CTGCTTGCATAAGAGGCTGG -3'
Sequencing Primer
(F):5'- CTCACTGTGTAAGCACTAGTAGC -3'
(R):5'- ATAAGAGGCTGGCCGGC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation