Incidental Mutation 'R6146:Depdc5'
ID |
488869 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Depdc5
|
Ensembl Gene |
ENSMUSG00000037426 |
Gene Name |
DEP domain containing 5 |
Synonyms |
|
MMRRC Submission |
044293-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6146 (G1)
|
Quality Score |
200.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
33021045-33151580 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 33126075 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 569
(E569G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120120
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087897]
[ENSMUST00000119705]
[ENSMUST00000120902]
[ENSMUST00000124780]
[ENSMUST00000130461]
|
AlphaFold |
P61460 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087897
AA Change: E1216G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000085207 Gene: ENSMUSG00000037426 AA Change: E1216G
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: E1207G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113862 Gene: ENSMUSG00000037426 AA Change: E1207G
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: E1185G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113980 Gene: ENSMUSG00000037426 AA Change: E1185G
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: E569G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000120120 Gene: ENSMUSG00000037426 AA Change: E569G
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 |
probably benign
Transcript: ENSMUST00000130461
|
SMART Domains |
Protein: ENSMUSP00000118681 Gene: ENSMUSG00000037426
Domain | Start | End | E-Value | Type |
low complexity region
|
70 |
82 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000137169
AA Change: E591G
|
SMART Domains |
Protein: ENSMUSP00000121089 Gene: ENSMUSG00000037426 AA Change: E591G
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: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
A |
G |
5: 8,946,587 (GRCm39) |
E29G |
probably benign |
Het |
Abi3bp |
T |
C |
16: 56,491,628 (GRCm39) |
S552P |
probably damaging |
Het |
Adgrg7 |
A |
G |
16: 56,593,829 (GRCm39) |
I129T |
probably benign |
Het |
Adhfe1 |
A |
G |
1: 9,623,943 (GRCm39) |
N148S |
probably damaging |
Het |
AI182371 |
A |
G |
2: 34,987,983 (GRCm39) |
Y77H |
probably damaging |
Het |
Aldh5a1 |
C |
T |
13: 25,103,661 (GRCm39) |
|
probably null |
Het |
Ankrd2 |
A |
G |
19: 42,028,544 (GRCm39) |
T67A |
possibly damaging |
Het |
Anln |
A |
T |
9: 22,287,604 (GRCm39) |
C232* |
probably null |
Het |
Cchcr1 |
A |
G |
17: 35,839,475 (GRCm39) |
D587G |
possibly damaging |
Het |
Cgn |
G |
T |
3: 94,674,435 (GRCm39) |
Q901K |
possibly damaging |
Het |
Cip2a |
A |
T |
16: 48,814,692 (GRCm39) |
K18* |
probably null |
Het |
Cluh |
G |
T |
11: 74,558,054 (GRCm39) |
|
probably null |
Het |
Crebbp |
G |
A |
16: 3,902,487 (GRCm39) |
Q2213* |
probably null |
Het |
Cyp2d22 |
T |
A |
15: 82,258,036 (GRCm39) |
|
probably null |
Het |
Dcdc2a |
T |
C |
13: 25,389,440 (GRCm39) |
V456A |
probably benign |
Het |
Dnah5 |
T |
C |
15: 28,459,331 (GRCm39) |
F4517L |
probably benign |
Het |
Doc2b |
T |
C |
11: 75,664,421 (GRCm39) |
K317E |
probably damaging |
Het |
Dysf |
T |
A |
6: 84,180,181 (GRCm39) |
D1951E |
probably damaging |
Het |
Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
F2rl2 |
A |
C |
13: 95,837,149 (GRCm39) |
I65L |
probably benign |
Het |
Fbxw17 |
A |
G |
13: 50,586,548 (GRCm39) |
K417E |
probably benign |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Fxr2 |
A |
G |
11: 69,532,165 (GRCm39) |
M96V |
possibly damaging |
Het |
Kcnj10 |
C |
A |
1: 172,196,892 (GRCm39) |
Y135* |
probably null |
Het |
Kidins220 |
G |
A |
12: 25,102,812 (GRCm39) |
R1238Q |
probably damaging |
Het |
Krt31 |
T |
C |
11: 99,939,056 (GRCm39) |
N255S |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,341,345 (GRCm39) |
D945G |
probably benign |
Het |
Lrrc66 |
T |
C |
5: 73,765,432 (GRCm39) |
D537G |
probably benign |
Het |
Ltbp4 |
T |
A |
7: 27,019,149 (GRCm39) |
I992F |
probably damaging |
Het |
Lzts1 |
A |
G |
8: 69,593,524 (GRCm39) |
S28P |
probably benign |
Het |
Mrc2 |
C |
A |
11: 105,216,470 (GRCm39) |
N86K |
probably damaging |
Het |
Mroh6 |
C |
A |
15: 75,758,486 (GRCm39) |
A302S |
possibly damaging |
Het |
Muc16 |
T |
A |
9: 18,409,093 (GRCm39) |
N198Y |
probably damaging |
Het |
Myo9a |
T |
C |
9: 59,778,512 (GRCm39) |
S1423P |
probably benign |
Het |
Or10ag58 |
A |
T |
2: 87,265,662 (GRCm39) |
D277V |
possibly damaging |
Het |
Or2b28 |
A |
T |
13: 21,531,164 (GRCm39) |
Y22F |
possibly damaging |
Het |
Or5h22 |
A |
G |
16: 58,895,077 (GRCm39) |
V122A |
probably benign |
Het |
Or5p56 |
G |
T |
7: 107,589,620 (GRCm39) |
G16V |
probably damaging |
Het |
Or5w17 |
A |
C |
2: 87,583,602 (GRCm39) |
L245R |
probably damaging |
Het |
Or9g4 |
T |
A |
2: 85,504,938 (GRCm39) |
K186* |
probably null |
Het |
Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
Polg |
T |
C |
7: 79,100,260 (GRCm39) |
M1184V |
probably benign |
Het |
Prl8a8 |
T |
C |
13: 27,694,463 (GRCm39) |
Y108C |
probably damaging |
Het |
Proser1 |
T |
A |
3: 53,385,540 (GRCm39) |
I474N |
probably damaging |
Het |
Rab44 |
A |
G |
17: 29,354,391 (GRCm39) |
|
probably benign |
Het |
Rbp1 |
C |
A |
9: 98,307,669 (GRCm39) |
D79E |
possibly damaging |
Het |
Rnf213 |
T |
C |
11: 119,326,825 (GRCm39) |
V1605A |
probably benign |
Het |
Rps24 |
A |
T |
14: 24,540,803 (GRCm39) |
|
probably null |
Het |
Setd5 |
T |
C |
6: 113,098,773 (GRCm39) |
|
probably null |
Het |
Skic3 |
A |
G |
13: 76,333,359 (GRCm39) |
E1536G |
probably damaging |
Het |
Slc38a3 |
T |
C |
9: 107,532,228 (GRCm39) |
I435V |
probably benign |
Het |
Slco1a5 |
T |
A |
6: 142,180,534 (GRCm39) |
M623L |
probably benign |
Het |
Spaca9 |
G |
A |
2: 28,583,793 (GRCm39) |
R64W |
probably damaging |
Het |
Spn |
A |
G |
7: 126,735,479 (GRCm39) |
S343P |
possibly damaging |
Het |
Sptan1 |
A |
G |
2: 29,894,535 (GRCm39) |
T1168A |
probably benign |
Het |
Sptbn4 |
A |
T |
7: 27,064,012 (GRCm39) |
L2138* |
probably null |
Het |
Tg |
T |
A |
15: 66,545,216 (GRCm39) |
|
probably null |
Het |
Tigd5 |
T |
A |
15: 75,782,094 (GRCm39) |
L152Q |
probably damaging |
Het |
Tmem163 |
C |
T |
1: 127,447,126 (GRCm39) |
V170I |
probably benign |
Het |
Tpr |
T |
C |
1: 150,298,913 (GRCm39) |
C1068R |
possibly damaging |
Het |
Ubr1 |
A |
T |
2: 120,723,690 (GRCm39) |
Y1290N |
probably damaging |
Het |
Vmn1r184 |
T |
A |
7: 25,966,817 (GRCm39) |
F188I |
probably benign |
Het |
Vmn2r100 |
G |
A |
17: 19,742,522 (GRCm39) |
V299I |
probably benign |
Het |
Vmn2r91 |
T |
G |
17: 18,356,518 (GRCm39) |
H728Q |
probably benign |
Het |
Vta1 |
T |
C |
10: 14,581,096 (GRCm39) |
Y37C |
probably damaging |
Het |
Wbp2 |
C |
A |
11: 115,974,728 (GRCm39) |
M35I |
probably benign |
Het |
Zcchc9 |
G |
A |
13: 91,953,986 (GRCm39) |
Q90* |
probably null |
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 |
|
IGL03001:Depdc5
|
APN |
5 |
33,102,434 (GRCm39) |
missense |
possibly damaging |
0.74 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTCTTCTATCATGCCATGGGG -3'
(R):5'- TATTCAAAGGCAGACCCAGC -3'
Sequencing Primer
(F):5'- GGAGTTATATATAAACCCTCCCTTGG -3'
(R):5'- CAACTCCAGATACGTATTATGTCTGG -3'
|
Posted On |
2017-10-10 |