Incidental Mutation 'R2079:Depdc5'
| ID |
229330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Depdc5
|
| Ensembl Gene |
ENSMUSG00000037426 |
| Gene Name |
DEP domain containing 5 |
| Synonyms |
|
| MMRRC Submission |
040084-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2079 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
33021045-33151580 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33104018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 373
(I373N)
|
| 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: I1011N
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000052807
Gene: ENSMUSG00000037426
AA Change: I1011N
| 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: I1020N
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000085207
Gene: ENSMUSG00000037426
AA Change: I1020N
| 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: I1011N
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000113862
Gene: ENSMUSG00000037426
AA Change: I1011N
| 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: I1011N
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000113980
Gene: ENSMUSG00000037426
AA Change: I1011N
| 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: I373N
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000120120
Gene: ENSMUSG00000037426
AA Change: I373N
| 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: I96N
|
| SMART Domains |
Protein: ENSMUSP00000118681
Gene: ENSMUSG00000037426
AA Change: I96N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
70 |
82 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000137169
AA Change: I417N
|
| SMART Domains |
Protein: ENSMUSP00000121089
Gene: ENSMUSG00000037426
AA Change: I417N
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
A |
T |
13: 104,598,746 (GRCm39) |
R862S |
probably benign |
Het |
| Aldoa |
T |
C |
7: 126,396,076 (GRCm39) |
D164G |
probably null |
Het |
| Ankle2 |
T |
C |
5: 110,392,371 (GRCm39) |
V459A |
probably damaging |
Het |
| Atp11a |
A |
G |
8: 12,907,902 (GRCm39) |
Y482C |
probably damaging |
Het |
| BC035947 |
A |
G |
1: 78,488,561 (GRCm39) |
|
probably benign |
Het |
| Cfap65 |
G |
A |
1: 74,956,358 (GRCm39) |
R1074C |
probably benign |
Het |
| Ciart |
G |
T |
3: 95,786,350 (GRCm39) |
H242N |
probably damaging |
Het |
| Cidec |
T |
A |
6: 113,402,615 (GRCm39) |
M220L |
probably benign |
Het |
| Clca3a1 |
A |
G |
3: 144,713,534 (GRCm39) |
I699T |
possibly damaging |
Het |
| Csf2rb2 |
T |
C |
15: 78,172,207 (GRCm39) |
D401G |
probably benign |
Het |
| Cyp2j6 |
C |
A |
4: 96,419,962 (GRCm39) |
L256F |
possibly damaging |
Het |
| Ddr2 |
A |
T |
1: 169,832,345 (GRCm39) |
Y148* |
probably null |
Het |
| Dpp10 |
A |
T |
1: 123,360,721 (GRCm39) |
M268K |
probably damaging |
Het |
| Fam118b |
C |
A |
9: 35,134,960 (GRCm39) |
V216F |
possibly damaging |
Het |
| Fancd2 |
T |
C |
6: 113,532,148 (GRCm39) |
V487A |
probably damaging |
Het |
| Fhad1 |
T |
A |
4: 141,718,513 (GRCm39) |
R147* |
probably null |
Het |
| Flt3 |
A |
G |
5: 147,291,893 (GRCm39) |
S544P |
probably damaging |
Het |
| Frem3 |
C |
A |
8: 81,341,732 (GRCm39) |
Q1342K |
probably benign |
Het |
| Garin3 |
T |
G |
11: 46,295,934 (GRCm39) |
V102G |
probably benign |
Het |
| Gimap4 |
T |
C |
6: 48,667,881 (GRCm39) |
M84T |
possibly damaging |
Het |
| Gm20481 |
T |
C |
17: 35,189,196 (GRCm39) |
K569R |
probably benign |
Het |
| Gm4871 |
A |
C |
5: 144,966,741 (GRCm39) |
D247E |
possibly damaging |
Het |
| Gm5141 |
A |
T |
13: 62,922,424 (GRCm39) |
N248K |
probably benign |
Het |
| Gulo |
A |
G |
14: 66,227,832 (GRCm39) |
Y367H |
probably damaging |
Het |
| Hap1 |
T |
C |
11: 100,244,572 (GRCm39) |
E120G |
probably damaging |
Het |
| Heatr3 |
T |
A |
8: 88,868,404 (GRCm39) |
N51K |
probably damaging |
Het |
| Hipk2 |
T |
C |
6: 38,795,720 (GRCm39) |
D183G |
probably damaging |
Het |
| Hnrnpll |
T |
A |
17: 80,342,806 (GRCm39) |
T439S |
probably benign |
Het |
| Hoxd3 |
A |
C |
2: 74,574,610 (GRCm39) |
E85D |
probably damaging |
Het |
| Ipo8 |
A |
T |
6: 148,690,660 (GRCm39) |
M694K |
probably damaging |
Het |
| Jag2 |
A |
G |
12: 112,883,997 (GRCm39) |
I194T |
probably damaging |
Het |
| Jrkl |
A |
T |
9: 13,244,864 (GRCm39) |
F266I |
probably damaging |
Het |
| Kcnt1 |
A |
G |
2: 25,790,260 (GRCm39) |
I436V |
possibly damaging |
Het |
| Kdm3b |
A |
T |
18: 34,936,570 (GRCm39) |
D284V |
probably damaging |
Het |
| Khdrbs2 |
A |
G |
1: 32,506,955 (GRCm39) |
T200A |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,557,278 (GRCm39) |
D1143G |
possibly damaging |
Het |
| Kremen1 |
G |
GGGGT |
11: 5,151,794 (GRCm39) |
|
probably null |
Het |
| Lama2 |
A |
C |
10: 27,245,049 (GRCm39) |
I244S |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,867,301 (GRCm39) |
P99S |
possibly damaging |
Het |
| Lrrc30 |
A |
T |
17: 67,938,875 (GRCm39) |
L235Q |
possibly damaging |
Het |
| Man2b2 |
C |
T |
5: 36,971,716 (GRCm39) |
V667M |
possibly damaging |
Het |
| Mmp2 |
T |
A |
8: 93,576,817 (GRCm39) |
N77K |
probably damaging |
Het |
| Myo1a |
A |
G |
10: 127,556,482 (GRCm39) |
E1009G |
probably benign |
Het |
| Ndst1 |
A |
G |
18: 60,828,581 (GRCm39) |
Y658H |
probably damaging |
Het |
| Nlrp10 |
A |
G |
7: 108,524,835 (GRCm39) |
L215P |
possibly damaging |
Het |
| Nrbp1 |
T |
C |
5: 31,408,417 (GRCm39) |
F526L |
probably benign |
Het |
| Or10p21 |
T |
C |
10: 128,847,898 (GRCm39) |
V248A |
probably damaging |
Het |
| Or51t4 |
T |
A |
7: 102,598,702 (GRCm39) |
F333L |
probably benign |
Het |
| Padi2 |
T |
C |
4: 140,660,507 (GRCm39) |
L329P |
probably damaging |
Het |
| Pcdhb20 |
A |
G |
18: 37,638,224 (GRCm39) |
Q250R |
probably benign |
Het |
| Pcdhb3 |
T |
A |
18: 37,436,362 (GRCm39) |
L776Q |
possibly damaging |
Het |
| Pik3cb |
A |
T |
9: 98,942,257 (GRCm39) |
M700K |
probably benign |
Het |
| Pla2g6 |
C |
T |
15: 79,197,194 (GRCm39) |
V127M |
probably damaging |
Het |
| Rabgef1 |
T |
C |
5: 130,219,776 (GRCm39) |
S80P |
probably damaging |
Het |
| Sema3a |
C |
T |
5: 13,501,098 (GRCm39) |
T47I |
possibly damaging |
Het |
| Sik2 |
C |
T |
9: 50,818,706 (GRCm39) |
|
probably null |
Het |
| Sin3a |
T |
C |
9: 56,996,807 (GRCm39) |
V112A |
probably benign |
Het |
| Slc26a6 |
G |
A |
9: 108,736,257 (GRCm39) |
A472T |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,311,502 (GRCm39) |
V561A |
probably benign |
Het |
| Syt16 |
C |
T |
12: 74,285,073 (GRCm39) |
T422I |
probably damaging |
Het |
| Tlr11 |
A |
T |
14: 50,598,437 (GRCm39) |
H141L |
probably damaging |
Het |
| Tmem252 |
A |
T |
19: 24,655,017 (GRCm39) |
E131D |
probably benign |
Het |
| Trim55 |
T |
G |
3: 19,698,830 (GRCm39) |
L20V |
probably damaging |
Het |
| Uqcrfs1 |
A |
T |
13: 30,725,291 (GRCm39) |
V83D |
probably benign |
Het |
| Utf1 |
C |
T |
7: 139,524,808 (GRCm39) |
R309* |
probably null |
Het |
| Uxs1 |
T |
C |
1: 43,804,133 (GRCm39) |
T261A |
probably damaging |
Het |
| Vmn1r24 |
T |
C |
6: 57,932,655 (GRCm39) |
I288V |
probably benign |
Het |
| Vmn1r80 |
A |
T |
7: 11,927,121 (GRCm39) |
D77V |
probably damaging |
Het |
| Vmn2r74 |
T |
G |
7: 85,606,383 (GRCm39) |
H321P |
probably benign |
Het |
| Zfp638 |
T |
C |
6: 83,930,371 (GRCm39) |
|
probably null |
Het |
| Zwilch |
T |
A |
9: 64,060,856 (GRCm39) |
Q332L |
probably damaging |
Het |
| Zwilch |
G |
T |
9: 64,060,857 (GRCm39) |
Q332K |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGTTAAACCAATATCTCCGAGCC -3'
(R):5'- ATCTTGGATAGATGACTGAGACACTG -3'
Sequencing Primer
(F):5'- TCTTCTATAGTCCACTAACCACAGAG -3'
(R):5'- CTGAAATGCCTTAAAGCCATGG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation