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 |
33021045-33151580 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 33132666 bp (GRCm39)
|
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: 137,774,246 (GRCm39) |
I1145T |
probably damaging |
Het |
Aadat |
T |
C |
8: 60,993,140 (GRCm39) |
V360A |
probably benign |
Het |
Abhd16a |
A |
T |
17: 35,320,859 (GRCm39) |
T436S |
probably benign |
Het |
Acbd5 |
G |
T |
2: 22,989,596 (GRCm39) |
L406F |
probably damaging |
Het |
Agrn |
G |
A |
4: 156,256,858 (GRCm39) |
T1142M |
probably benign |
Het |
Aig1 |
C |
A |
10: 13,677,674 (GRCm39) |
W106L |
probably damaging |
Het |
Akr1d1 |
T |
C |
6: 37,534,535 (GRCm39) |
|
probably null |
Het |
Ap1g1 |
G |
A |
8: 110,581,714 (GRCm39) |
D658N |
possibly damaging |
Het |
Arhgap45 |
A |
G |
10: 79,862,006 (GRCm39) |
Y520C |
probably damaging |
Het |
Arhgap5 |
A |
T |
12: 52,565,860 (GRCm39) |
M944L |
probably benign |
Het |
Asic5 |
C |
T |
3: 81,907,116 (GRCm39) |
T47I |
possibly damaging |
Het |
Cabp5 |
A |
G |
7: 13,134,664 (GRCm39) |
|
probably null |
Het |
Ccr6 |
A |
T |
17: 8,474,896 (GRCm39) |
R34* |
probably null |
Het |
Cdin1 |
A |
G |
2: 115,412,369 (GRCm39) |
I2V |
probably benign |
Het |
Clec4a2 |
T |
C |
6: 123,117,622 (GRCm39) |
I180T |
probably damaging |
Het |
Cmtr1 |
A |
G |
17: 29,919,216 (GRCm39) |
E704G |
possibly damaging |
Het |
Cyth3 |
G |
A |
5: 143,670,234 (GRCm39) |
|
probably null |
Het |
Dbt |
T |
C |
3: 116,332,781 (GRCm39) |
I200T |
probably damaging |
Het |
Dennd6b |
T |
C |
15: 89,069,795 (GRCm39) |
H468R |
probably benign |
Het |
Dpp6 |
A |
G |
5: 27,917,657 (GRCm39) |
Y616C |
probably damaging |
Het |
Dync2h1 |
A |
T |
9: 7,006,862 (GRCm39) |
S3710T |
probably benign |
Het |
Eif4g3 |
T |
A |
4: 137,925,408 (GRCm39) |
S1584T |
probably benign |
Het |
Emc3 |
G |
A |
6: 113,508,310 (GRCm39) |
T45I |
possibly damaging |
Het |
Esf1 |
T |
A |
2: 139,966,891 (GRCm39) |
D685V |
probably damaging |
Het |
Ezr |
A |
G |
17: 7,008,975 (GRCm39) |
S366P |
probably benign |
Het |
Gbe1 |
C |
T |
16: 70,292,141 (GRCm39) |
A491V |
probably damaging |
Het |
Haus6 |
A |
G |
4: 86,518,986 (GRCm39) |
|
probably null |
Het |
Heca |
G |
A |
10: 17,790,935 (GRCm39) |
Q12* |
probably null |
Het |
Hpdl |
T |
C |
4: 116,678,221 (GRCm39) |
N80S |
probably damaging |
Het |
Hydin |
A |
T |
8: 111,249,840 (GRCm39) |
Q2261L |
probably benign |
Het |
Itgae |
G |
T |
11: 73,005,706 (GRCm39) |
R290L |
possibly damaging |
Het |
Kcna10 |
C |
A |
3: 107,102,808 (GRCm39) |
L480I |
probably benign |
Het |
Kif27 |
T |
C |
13: 58,476,785 (GRCm39) |
T622A |
probably benign |
Het |
Lama2 |
T |
C |
10: 27,080,925 (GRCm39) |
N966S |
probably damaging |
Het |
Mdfic |
A |
G |
6: 15,741,019 (GRCm39) |
K38E |
possibly damaging |
Het |
Med25 |
G |
A |
7: 44,541,712 (GRCm39) |
A26V |
probably damaging |
Het |
Mrpl19 |
A |
T |
6: 81,941,329 (GRCm39) |
S77R |
probably damaging |
Het |
Mtcl2 |
T |
A |
2: 156,862,474 (GRCm39) |
D1485V |
probably damaging |
Het |
Mybpc2 |
T |
C |
7: 44,161,971 (GRCm39) |
D493G |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,131,746 (GRCm39) |
T69A |
probably benign |
Het |
Myo16 |
G |
T |
8: 10,423,527 (GRCm39) |
G288W |
probably damaging |
Het |
Myo9b |
T |
C |
8: 71,809,236 (GRCm39) |
L1815P |
probably damaging |
Het |
Myom2 |
T |
A |
8: 15,131,271 (GRCm39) |
L323Q |
probably damaging |
Het |
Naip1 |
T |
C |
13: 100,581,034 (GRCm39) |
D71G |
possibly damaging |
Het |
Nktr |
T |
A |
9: 121,578,805 (GRCm39) |
|
probably benign |
Het |
Nol10 |
A |
G |
12: 17,405,288 (GRCm39) |
K88E |
probably damaging |
Het |
Nol4 |
T |
C |
18: 22,852,050 (GRCm39) |
D505G |
probably damaging |
Het |
Nynrin |
T |
A |
14: 56,101,454 (GRCm39) |
N374K |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,954,362 (GRCm39) |
L3740Q |
probably damaging |
Het |
Or5g23 |
T |
C |
2: 85,438,327 (GRCm39) |
H309R |
probably benign |
Het |
Otub2 |
T |
A |
12: 103,359,103 (GRCm39) |
L64Q |
probably benign |
Het |
Pgm5 |
G |
A |
19: 24,812,169 (GRCm39) |
A121V |
probably damaging |
Het |
Pi4ka |
A |
T |
16: 17,195,039 (GRCm39) |
Y120N |
probably benign |
Het |
Rpl36al |
G |
A |
12: 69,229,732 (GRCm39) |
A60V |
possibly damaging |
Het |
Rspo4 |
T |
C |
2: 151,685,054 (GRCm39) |
Y21H |
probably benign |
Het |
Scube2 |
A |
G |
7: 109,430,412 (GRCm39) |
V455A |
probably benign |
Het |
Serpina1f |
T |
C |
12: 103,659,805 (GRCm39) |
D159G |
probably damaging |
Het |
Sf1 |
A |
G |
19: 6,415,694 (GRCm39) |
D11G |
probably damaging |
Het |
Siglecg |
T |
C |
7: 43,067,332 (GRCm39) |
F633S |
probably benign |
Het |
Skic2 |
A |
G |
17: 35,067,173 (GRCm39) |
S89P |
possibly damaging |
Het |
Slc22a13 |
T |
C |
9: 119,022,698 (GRCm39) |
E501G |
probably damaging |
Het |
Slc44a3 |
A |
G |
3: 121,303,855 (GRCm39) |
S294P |
probably damaging |
Het |
Smad3 |
T |
G |
9: 63,664,842 (GRCm39) |
K40Q |
probably damaging |
Het |
Stt3a |
T |
A |
9: 36,661,008 (GRCm39) |
M268L |
probably benign |
Het |
Taf4 |
A |
T |
2: 179,566,287 (GRCm39) |
V817E |
probably damaging |
Het |
Tgfbr1 |
A |
G |
4: 47,383,835 (GRCm39) |
T58A |
probably benign |
Het |
Trpc6 |
T |
C |
9: 8,609,871 (GRCm39) |
V113A |
probably damaging |
Het |
Ttll13 |
T |
A |
7: 79,898,024 (GRCm39) |
|
probably null |
Het |
Uba7 |
T |
C |
9: 107,857,364 (GRCm39) |
L742P |
probably benign |
Het |
Ulk2 |
A |
G |
11: 61,724,261 (GRCm39) |
L174P |
probably damaging |
Het |
Unc5c |
A |
T |
3: 141,522,692 (GRCm39) |
Y706F |
probably benign |
Het |
Unc80 |
A |
T |
1: 66,688,831 (GRCm39) |
|
probably null |
Het |
Usp34 |
T |
A |
11: 23,343,749 (GRCm39) |
|
probably null |
Het |
Vmn1r71 |
A |
T |
7: 10,481,791 (GRCm39) |
V233D |
possibly damaging |
Het |
Xpo6 |
T |
C |
7: 125,739,755 (GRCm39) |
K439R |
probably benign |
Het |
Xrn1 |
G |
T |
9: 95,915,689 (GRCm39) |
G1271C |
probably damaging |
Het |
Yes1 |
A |
T |
5: 32,818,121 (GRCm39) |
E386V |
probably damaging |
Het |
Zfp759 |
C |
A |
13: 67,287,408 (GRCm39) |
H320N |
probably damaging |
Het |
Zfp990 |
A |
T |
4: 145,263,512 (GRCm39) |
H170L |
possibly 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 |
|
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 |
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 |
|
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 |