Incidental Mutation 'IGL03001:Depdc5'
ID |
407355 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Depdc5
|
Ensembl Gene |
ENSMUSG00000037426 |
Gene Name |
DEP domain containing 5 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03001
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
33021045-33151580 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 33102434 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 342
(V342A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120120
(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: V980A
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000052807 Gene: ENSMUSG00000037426 AA Change: V980A
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: V989A
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000085207 Gene: ENSMUSG00000037426 AA Change: V989A
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: V980A
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000113862 Gene: ENSMUSG00000037426 AA Change: V980A
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: V980A
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000113980 Gene: ENSMUSG00000037426 AA Change: V980A
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 |
possibly damaging
Transcript: ENSMUST00000124780
AA Change: V342A
PolyPhen 2
Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000120120 Gene: ENSMUSG00000037426 AA Change: V342A
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 |
unknown
Transcript: ENSMUST00000130461
AA Change: V65A
|
SMART Domains |
Protein: ENSMUSP00000118681 Gene: ENSMUSG00000037426 AA Change: V65A
Domain | Start | End | E-Value | Type |
low complexity region
|
70 |
82 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000137169
AA Change: V386A
|
SMART Domains |
Protein: ENSMUSP00000121089 Gene: ENSMUSG00000037426 AA Change: V386A
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201802
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141812
|
Coding Region Coverage |
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
A |
C |
7: 78,761,042 (GRCm39) |
D1918A |
probably damaging |
Het |
Ahcy |
C |
A |
2: 154,906,748 (GRCm39) |
D182Y |
probably damaging |
Het |
Aldob |
T |
G |
4: 49,542,844 (GRCm39) |
D110A |
probably damaging |
Het |
Alkbh8 |
A |
T |
9: 3,344,602 (GRCm39) |
M53L |
probably benign |
Het |
Aqr |
T |
C |
2: 113,977,400 (GRCm39) |
D363G |
probably benign |
Het |
Asxl3 |
A |
G |
18: 22,650,455 (GRCm39) |
R815G |
probably damaging |
Het |
Atf4 |
T |
A |
15: 80,140,858 (GRCm39) |
W83R |
probably damaging |
Het |
Baz1a |
A |
T |
12: 54,969,896 (GRCm39) |
M587K |
possibly damaging |
Het |
Btbd8 |
T |
C |
5: 107,645,708 (GRCm39) |
I9T |
probably damaging |
Het |
Cactin |
T |
A |
10: 81,161,568 (GRCm39) |
I700N |
probably damaging |
Het |
Catsperg2 |
T |
C |
7: 29,424,504 (GRCm39) |
S95G |
probably benign |
Het |
Cd1d1 |
C |
T |
3: 86,905,468 (GRCm39) |
S175N |
probably benign |
Het |
Chd4 |
C |
A |
6: 125,078,529 (GRCm39) |
A217E |
possibly damaging |
Het |
Cnbd2 |
T |
C |
2: 156,175,554 (GRCm39) |
|
probably null |
Het |
Cntnap5c |
G |
A |
17: 58,362,634 (GRCm39) |
C329Y |
probably damaging |
Het |
Col12a1 |
C |
T |
9: 79,540,955 (GRCm39) |
G2391R |
probably damaging |
Het |
Col5a3 |
T |
A |
9: 20,719,040 (GRCm39) |
D238V |
unknown |
Het |
Cuedc1 |
T |
C |
11: 88,073,315 (GRCm39) |
V160A |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,126,123 (GRCm39) |
D1338G |
probably benign |
Het |
Dpyd |
T |
C |
3: 118,710,891 (GRCm39) |
V433A |
probably benign |
Het |
Epb41l5 |
T |
C |
1: 119,545,374 (GRCm39) |
H179R |
probably damaging |
Het |
Fbf1 |
T |
C |
11: 116,056,712 (GRCm39) |
|
probably benign |
Het |
Flnb |
T |
C |
14: 7,934,680 (GRCm38) |
S2251P |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,820,968 (GRCm39) |
|
probably benign |
Het |
Grin2b |
C |
T |
6: 135,716,113 (GRCm39) |
V735M |
probably damaging |
Het |
Itpr3 |
T |
G |
17: 27,308,586 (GRCm39) |
|
probably benign |
Het |
Lingo4 |
C |
T |
3: 94,309,703 (GRCm39) |
R214C |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 40,817,901 (GRCm39) |
R2329H |
probably damaging |
Het |
Lrrc47 |
T |
C |
4: 154,100,450 (GRCm39) |
L342P |
probably damaging |
Het |
Mmp15 |
T |
C |
8: 96,094,845 (GRCm39) |
S240P |
probably damaging |
Het |
Ndufaf4 |
T |
A |
4: 24,901,747 (GRCm39) |
N95K |
probably benign |
Het |
Nms |
C |
T |
1: 38,980,993 (GRCm39) |
P60S |
probably benign |
Het |
Npas3 |
A |
T |
12: 53,547,975 (GRCm39) |
Y77F |
probably damaging |
Het |
Or2ak7 |
T |
G |
11: 58,574,702 (GRCm39) |
M1R |
probably null |
Het |
Or51f5 |
G |
T |
7: 102,424,460 (GRCm39) |
C243F |
probably damaging |
Het |
Or5d43 |
T |
A |
2: 88,105,189 (GRCm39) |
D68V |
probably damaging |
Het |
Or8d2b |
A |
G |
9: 38,789,374 (GRCm39) |
M301V |
probably benign |
Het |
Or9m2 |
T |
A |
2: 87,820,493 (GRCm39) |
Y13N |
probably benign |
Het |
Or9s27 |
T |
A |
1: 92,516,273 (GRCm39) |
S74T |
probably damaging |
Het |
Picalm |
T |
C |
7: 89,831,454 (GRCm39) |
V429A |
probably benign |
Het |
Pkhd1l1 |
T |
A |
15: 44,421,400 (GRCm39) |
I3056N |
probably damaging |
Het |
Pomt1 |
G |
T |
2: 32,134,338 (GRCm39) |
M286I |
probably benign |
Het |
Popdc2 |
A |
T |
16: 38,189,881 (GRCm39) |
Y176F |
probably benign |
Het |
Psg21 |
A |
T |
7: 18,386,410 (GRCm39) |
M192K |
probably benign |
Het |
Psma1 |
C |
A |
7: 113,865,674 (GRCm39) |
A219S |
probably benign |
Het |
Rad21l |
T |
G |
2: 151,510,389 (GRCm39) |
H22P |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,370,767 (GRCm39) |
T4791A |
probably damaging |
Het |
Sdk2 |
A |
G |
11: 113,712,452 (GRCm39) |
V1609A |
probably benign |
Het |
Sema3e |
T |
A |
5: 14,291,057 (GRCm39) |
S606T |
probably benign |
Het |
Slc16a4 |
A |
T |
3: 107,218,858 (GRCm39) |
R486S |
possibly damaging |
Het |
Slc17a3 |
T |
C |
13: 24,040,767 (GRCm39) |
L331P |
probably damaging |
Het |
Slc38a11 |
A |
T |
2: 65,184,159 (GRCm39) |
V164D |
probably damaging |
Het |
Slc38a6 |
A |
G |
12: 73,383,827 (GRCm39) |
I173V |
probably benign |
Het |
Synpo2 |
T |
C |
3: 122,873,604 (GRCm39) |
T1121A |
probably benign |
Het |
Tfcp2 |
T |
C |
15: 100,426,302 (GRCm39) |
D83G |
possibly damaging |
Het |
Thnsl1 |
A |
G |
2: 21,216,455 (GRCm39) |
T70A |
probably damaging |
Het |
Tnfrsf21 |
A |
G |
17: 43,398,786 (GRCm39) |
I631V |
probably damaging |
Het |
Tor2a |
C |
A |
2: 32,647,329 (GRCm39) |
H6Q |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,565,267 (GRCm39) |
N19993S |
probably benign |
Het |
Vps53 |
T |
C |
11: 76,029,150 (GRCm39) |
E119G |
probably damaging |
Het |
Zkscan6 |
T |
C |
11: 65,705,495 (GRCm39) |
W69R |
probably damaging |
Het |
Zng1 |
T |
C |
19: 24,900,002 (GRCm39) |
K301E |
probably benign |
Het |
Zswim8 |
T |
C |
14: 20,764,459 (GRCm39) |
S610P |
probably damaging |
Het |
|
Other mutations in Depdc5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00861:Depdc5
|
APN |
5 |
33,125,158 (GRCm39) |
splice site |
probably null |
|
IGL01019:Depdc5
|
APN |
5 |
33,050,745 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01067:Depdc5
|
APN |
5 |
33,056,411 (GRCm39) |
splice site |
probably null |
|
IGL01405:Depdc5
|
APN |
5 |
33,095,033 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01577:Depdc5
|
APN |
5 |
33,113,241 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL01633:Depdc5
|
APN |
5 |
33,081,544 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01998:Depdc5
|
APN |
5 |
33,102,495 (GRCm39) |
splice site |
probably benign |
|
IGL02025:Depdc5
|
APN |
5 |
33,103,976 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02167:Depdc5
|
APN |
5 |
33,061,145 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02537:Depdc5
|
APN |
5 |
33,125,131 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02812:Depdc5
|
APN |
5 |
33,050,712 (GRCm39) |
splice site |
probably benign |
|
IGL03253:Depdc5
|
APN |
5 |
33,026,157 (GRCm39) |
unclassified |
probably benign |
|
alligator
|
UTSW |
5 |
33,121,851 (GRCm39) |
splice site |
probably null |
|
lagarto
|
UTSW |
5 |
33,136,852 (GRCm39) |
missense |
probably damaging |
1.00 |
sauros
|
UTSW |
5 |
33,144,310 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02988:Depdc5
|
UTSW |
5 |
33,113,511 (GRCm39) |
splice site |
probably null |
|
R0038:Depdc5
|
UTSW |
5 |
33,026,197 (GRCm39) |
missense |
probably benign |
0.01 |
R0038:Depdc5
|
UTSW |
5 |
33,026,197 (GRCm39) |
missense |
probably benign |
0.01 |
R0153:Depdc5
|
UTSW |
5 |
33,091,281 (GRCm39) |
splice site |
probably benign |
|
R0179:Depdc5
|
UTSW |
5 |
33,058,918 (GRCm39) |
unclassified |
probably benign |
|
R0212:Depdc5
|
UTSW |
5 |
33,069,586 (GRCm39) |
missense |
probably benign |
0.00 |
R0239:Depdc5
|
UTSW |
5 |
33,100,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R0239:Depdc5
|
UTSW |
5 |
33,100,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R0302:Depdc5
|
UTSW |
5 |
33,061,890 (GRCm39) |
critical splice donor site |
probably benign |
|
R0511:Depdc5
|
UTSW |
5 |
33,102,372 (GRCm39) |
nonsense |
probably null |
|
R0677:Depdc5
|
UTSW |
5 |
33,058,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R0884:Depdc5
|
UTSW |
5 |
33,075,322 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0973:Depdc5
|
UTSW |
5 |
33,144,310 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1314:Depdc5
|
UTSW |
5 |
33,034,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R1611:Depdc5
|
UTSW |
5 |
33,148,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R1687:Depdc5
|
UTSW |
5 |
33,067,751 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R1748:Depdc5
|
UTSW |
5 |
33,075,286 (GRCm39) |
missense |
probably benign |
0.24 |
R1903:Depdc5
|
UTSW |
5 |
33,067,751 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R1956:Depdc5
|
UTSW |
5 |
33,061,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R1997:Depdc5
|
UTSW |
5 |
33,059,250 (GRCm39) |
critical splice donor site |
probably null |
|
R2079:Depdc5
|
UTSW |
5 |
33,104,018 (GRCm39) |
missense |
possibly damaging |
0.75 |
R2131:Depdc5
|
UTSW |
5 |
33,148,125 (GRCm39) |
nonsense |
probably null |
|
R2291:Depdc5
|
UTSW |
5 |
33,136,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R2422:Depdc5
|
UTSW |
5 |
33,148,379 (GRCm39) |
missense |
probably damaging |
1.00 |
R2851:Depdc5
|
UTSW |
5 |
33,081,515 (GRCm39) |
missense |
probably damaging |
0.96 |
R2852:Depdc5
|
UTSW |
5 |
33,081,515 (GRCm39) |
missense |
probably damaging |
0.96 |
R2937:Depdc5
|
UTSW |
5 |
33,058,965 (GRCm39) |
splice site |
probably null |
|
R2938:Depdc5
|
UTSW |
5 |
33,058,965 (GRCm39) |
splice site |
probably null |
|
R2974:Depdc5
|
UTSW |
5 |
33,091,361 (GRCm39) |
critical splice donor site |
probably null |
|
R3884:Depdc5
|
UTSW |
5 |
33,101,421 (GRCm39) |
missense |
probably damaging |
1.00 |
R3967:Depdc5
|
UTSW |
5 |
33,101,459 (GRCm39) |
nonsense |
probably null |
|
R4118:Depdc5
|
UTSW |
5 |
33,121,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R4197:Depdc5
|
UTSW |
5 |
33,148,547 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4407:Depdc5
|
UTSW |
5 |
33,061,878 (GRCm39) |
critical splice donor site |
probably null |
|
R4534:Depdc5
|
UTSW |
5 |
33,067,751 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R4535:Depdc5
|
UTSW |
5 |
33,067,751 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R4538:Depdc5
|
UTSW |
5 |
33,141,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R4613:Depdc5
|
UTSW |
5 |
33,132,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R4736:Depdc5
|
UTSW |
5 |
33,132,666 (GRCm39) |
missense |
probably benign |
|
R4738:Depdc5
|
UTSW |
5 |
33,132,666 (GRCm39) |
missense |
probably benign |
|
R4765:Depdc5
|
UTSW |
5 |
33,094,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R5021:Depdc5
|
UTSW |
5 |
33,136,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R5259:Depdc5
|
UTSW |
5 |
33,095,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R5261:Depdc5
|
UTSW |
5 |
33,095,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R5541:Depdc5
|
UTSW |
5 |
33,021,973 (GRCm39) |
utr 5 prime |
probably benign |
|
R5594:Depdc5
|
UTSW |
5 |
33,058,834 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5929:Depdc5
|
UTSW |
5 |
33,132,850 (GRCm39) |
nonsense |
probably null |
|
R6132:Depdc5
|
UTSW |
5 |
33,067,811 (GRCm39) |
missense |
probably damaging |
0.99 |
R6146:Depdc5
|
UTSW |
5 |
33,126,075 (GRCm39) |
missense |
probably benign |
0.01 |
R6336:Depdc5
|
UTSW |
5 |
33,121,851 (GRCm39) |
splice site |
probably null |
|
R6468:Depdc5
|
UTSW |
5 |
33,069,575 (GRCm39) |
missense |
probably benign |
0.02 |
R6911:Depdc5
|
UTSW |
5 |
33,081,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R6969:Depdc5
|
UTSW |
5 |
33,141,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R7002:Depdc5
|
UTSW |
5 |
33,034,502 (GRCm39) |
splice site |
probably null |
|
R7066:Depdc5
|
UTSW |
5 |
33,059,192 (GRCm39) |
missense |
probably benign |
0.08 |
R7231:Depdc5
|
UTSW |
5 |
33,059,209 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7264:Depdc5
|
UTSW |
5 |
33,125,089 (GRCm39) |
missense |
probably benign |
|
R7302:Depdc5
|
UTSW |
5 |
33,136,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R7386:Depdc5
|
UTSW |
5 |
33,085,280 (GRCm39) |
missense |
probably benign |
|
R7564:Depdc5
|
UTSW |
5 |
33,058,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R7636:Depdc5
|
UTSW |
5 |
33,075,327 (GRCm39) |
missense |
probably benign |
|
R7795:Depdc5
|
UTSW |
5 |
33,101,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R7845:Depdc5
|
UTSW |
5 |
33,061,259 (GRCm39) |
splice site |
probably null |
|
R8013:Depdc5
|
UTSW |
5 |
33,131,186 (GRCm39) |
missense |
probably benign |
0.01 |
R8037:Depdc5
|
UTSW |
5 |
33,116,692 (GRCm39) |
critical splice donor site |
probably null |
|
R8038:Depdc5
|
UTSW |
5 |
33,116,692 (GRCm39) |
critical splice donor site |
probably null |
|
R8065:Depdc5
|
UTSW |
5 |
33,053,252 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8067:Depdc5
|
UTSW |
5 |
33,053,252 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8108:Depdc5
|
UTSW |
5 |
33,102,393 (GRCm39) |
missense |
probably benign |
0.01 |
R8112:Depdc5
|
UTSW |
5 |
33,126,050 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8213:Depdc5
|
UTSW |
5 |
33,094,981 (GRCm39) |
missense |
probably damaging |
1.00 |
R8382:Depdc5
|
UTSW |
5 |
33,085,242 (GRCm39) |
missense |
probably benign |
0.00 |
R8680:Depdc5
|
UTSW |
5 |
33,101,382 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8743:Depdc5
|
UTSW |
5 |
33,081,587 (GRCm39) |
missense |
probably benign |
0.10 |
R8754:Depdc5
|
UTSW |
5 |
33,136,881 (GRCm39) |
missense |
probably benign |
0.00 |
R9157:Depdc5
|
UTSW |
5 |
33,102,452 (GRCm39) |
missense |
probably damaging |
0.98 |
R9364:Depdc5
|
UTSW |
5 |
33,122,076 (GRCm39) |
missense |
probably benign |
|
R9441:Depdc5
|
UTSW |
5 |
33,095,042 (GRCm39) |
missense |
probably benign |
0.03 |
R9450:Depdc5
|
UTSW |
5 |
33,091,354 (GRCm39) |
missense |
probably benign |
|
R9459:Depdc5
|
UTSW |
5 |
33,148,117 (GRCm39) |
missense |
probably damaging |
0.99 |
R9554:Depdc5
|
UTSW |
5 |
33,122,076 (GRCm39) |
missense |
probably benign |
|
R9569:Depdc5
|
UTSW |
5 |
33,025,321 (GRCm39) |
missense |
probably damaging |
0.98 |
R9647:Depdc5
|
UTSW |
5 |
33,081,567 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9688:Depdc5
|
UTSW |
5 |
33,055,276 (GRCm39) |
nonsense |
probably null |
|
X0027:Depdc5
|
UTSW |
5 |
33,061,636 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Depdc5
|
UTSW |
5 |
33,100,626 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Posted On |
2016-08-02 |