Incidental Mutation 'R2291:Depdc5'
| ID |
244340 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Depdc5
|
| Ensembl Gene |
ENSMUSG00000037426 |
| Gene Name |
DEP domain containing 5 |
| Synonyms |
|
| MMRRC Submission |
040290-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2291 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
33021045-33151580 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 33136746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 1339
(Q1339K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113862
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087897]
[ENSMUST00000119705]
[ENSMUST00000120902]
[ENSMUST00000124780]
|
| AlphaFold |
P61460 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087897
AA Change: Q1348K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000085207
Gene: ENSMUSG00000037426
AA Change: Q1348K
| 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 damaging
Transcript: ENSMUST00000119705
AA Change: Q1339K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113862
Gene: ENSMUSG00000037426
AA Change: Q1339K
| 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 damaging
Transcript: ENSMUST00000120902
AA Change: Q1317K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113980
Gene: ENSMUSG00000037426
AA Change: Q1317K
| 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
|
| 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 |
unknown
Transcript: ENSMUST00000137169
AA Change: Q723K
|
| SMART Domains |
Protein: ENSMUSP00000121089
Gene: ENSMUSG00000037426
AA Change: Q723K
| 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: 99.2%
- 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
T |
3: 124,207,450 (GRCm39) |
I247N |
probably damaging |
Het |
| Afdn |
A |
G |
17: 14,109,153 (GRCm39) |
K1559E |
probably damaging |
Het |
| Ankhd1 |
C |
T |
18: 36,777,386 (GRCm39) |
T1523I |
probably benign |
Het |
| Apc |
T |
A |
18: 34,445,544 (GRCm39) |
N795K |
probably benign |
Het |
| Arhgap26 |
G |
T |
18: 39,490,751 (GRCm39) |
|
probably benign |
Het |
| Atm |
C |
T |
9: 53,402,209 (GRCm39) |
|
probably null |
Het |
| Atp1a4 |
T |
C |
1: 172,072,473 (GRCm39) |
N394D |
probably damaging |
Het |
| Brinp3 |
T |
A |
1: 146,776,812 (GRCm39) |
S420T |
possibly damaging |
Het |
| Cacna1d |
G |
T |
14: 29,764,299 (GRCm39) |
R2078S |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,279,429 (GRCm39) |
D1720G |
probably damaging |
Het |
| Camk2a |
T |
A |
18: 61,097,031 (GRCm39) |
V38E |
probably damaging |
Het |
| Camk4 |
G |
A |
18: 33,240,996 (GRCm39) |
|
probably null |
Het |
| Ccr7 |
G |
A |
11: 99,036,161 (GRCm39) |
R254C |
probably damaging |
Het |
| Celf5 |
C |
T |
10: 81,302,881 (GRCm39) |
G267D |
probably damaging |
Het |
| Cfap65 |
G |
A |
1: 74,965,634 (GRCm39) |
P459S |
probably damaging |
Het |
| Chd1l |
T |
C |
3: 97,498,599 (GRCm39) |
K267E |
probably damaging |
Het |
| Chl1 |
T |
A |
6: 103,692,354 (GRCm39) |
Y331N |
probably damaging |
Het |
| Cltc |
G |
A |
11: 86,624,448 (GRCm39) |
T158I |
probably benign |
Het |
| Col16a1 |
T |
A |
4: 129,960,833 (GRCm39) |
D430E |
unknown |
Het |
| Cspg4 |
T |
C |
9: 56,800,027 (GRCm39) |
V1597A |
probably damaging |
Het |
| Cstf2t |
T |
A |
19: 31,062,264 (GRCm39) |
L600H |
probably benign |
Het |
| Cyp27b1 |
T |
C |
10: 126,884,163 (GRCm39) |
V5A |
possibly damaging |
Het |
| Diaph3 |
G |
T |
14: 87,203,882 (GRCm39) |
P592Q |
probably damaging |
Het |
| Dync2i1 |
A |
T |
12: 116,193,191 (GRCm39) |
|
probably null |
Het |
| Epha8 |
T |
C |
4: 136,660,658 (GRCm39) |
M687V |
probably damaging |
Het |
| Fhod1 |
T |
A |
8: 106,063,596 (GRCm39) |
|
probably benign |
Het |
| Gls2 |
C |
A |
10: 128,043,479 (GRCm39) |
S73* |
probably null |
Het |
| Gm3604 |
T |
A |
13: 62,519,657 (GRCm39) |
M33L |
probably damaging |
Het |
| Gpr39 |
A |
G |
1: 125,605,278 (GRCm39) |
T69A |
probably benign |
Het |
| Hal |
T |
C |
10: 93,339,398 (GRCm39) |
F496L |
probably damaging |
Het |
| Hipk1 |
T |
C |
3: 103,668,926 (GRCm39) |
E490G |
probably damaging |
Het |
| Ints7 |
T |
G |
1: 191,338,315 (GRCm39) |
|
probably null |
Het |
| Itpr3 |
A |
G |
17: 27,332,553 (GRCm39) |
E1799G |
possibly damaging |
Het |
| Kif11 |
T |
A |
19: 37,395,451 (GRCm39) |
M570K |
probably benign |
Het |
| Kif18b |
G |
T |
11: 102,799,096 (GRCm39) |
Q702K |
probably damaging |
Het |
| Kif19a |
A |
G |
11: 114,681,019 (GRCm39) |
T247A |
probably damaging |
Het |
| Lama3 |
A |
G |
18: 12,658,136 (GRCm39) |
E360G |
probably damaging |
Het |
| Loxl3 |
G |
T |
6: 83,014,469 (GRCm39) |
A126S |
probably benign |
Het |
| Mc5r |
C |
T |
18: 68,472,435 (GRCm39) |
R265W |
probably damaging |
Het |
| Mpl |
A |
G |
4: 118,306,197 (GRCm39) |
V340A |
probably benign |
Het |
| Mrpl13 |
G |
T |
15: 55,411,615 (GRCm39) |
H56Q |
probably damaging |
Het |
| Msr1 |
T |
C |
8: 40,077,263 (GRCm39) |
T116A |
probably benign |
Het |
| N4bp3 |
T |
C |
11: 51,536,930 (GRCm39) |
K48E |
probably damaging |
Het |
| Naaladl1 |
A |
G |
19: 6,156,225 (GRCm39) |
T104A |
probably benign |
Het |
| Neu1 |
C |
T |
17: 35,151,742 (GRCm39) |
R179W |
probably damaging |
Het |
| Or10d5 |
T |
C |
9: 39,861,630 (GRCm39) |
T146A |
probably benign |
Het |
| Or8k21 |
A |
T |
2: 86,145,524 (GRCm39) |
Y35* |
probably null |
Het |
| Osbp |
G |
T |
19: 11,951,198 (GRCm39) |
E248* |
probably null |
Het |
| Otx1 |
T |
A |
11: 21,946,634 (GRCm39) |
|
probably benign |
Het |
| Parp4 |
A |
T |
14: 56,851,274 (GRCm39) |
Q759L |
probably damaging |
Het |
| Pax6 |
A |
C |
2: 105,516,228 (GRCm39) |
S169R |
probably benign |
Het |
| Pigg |
T |
G |
5: 108,480,783 (GRCm39) |
I389M |
probably damaging |
Het |
| Pla2g4a |
C |
A |
1: 149,776,940 (GRCm39) |
V59F |
probably damaging |
Het |
| Plcb4 |
A |
T |
2: 135,781,903 (GRCm39) |
Q241H |
probably benign |
Het |
| Plpp6 |
A |
G |
19: 28,941,720 (GRCm39) |
D107G |
probably damaging |
Het |
| Ppp6r2 |
T |
A |
15: 89,159,690 (GRCm39) |
L459Q |
probably damaging |
Het |
| Prss55 |
A |
T |
14: 64,313,171 (GRCm39) |
W238R |
probably damaging |
Het |
| Rgl1 |
C |
T |
1: 152,412,032 (GRCm39) |
E446K |
probably damaging |
Het |
| Ric3 |
C |
T |
7: 108,638,090 (GRCm39) |
G221D |
probably damaging |
Het |
| Rnf167 |
T |
C |
11: 70,540,129 (GRCm39) |
F83S |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,798,202 (GRCm39) |
V947M |
probably damaging |
Het |
| Scn1a |
A |
G |
2: 66,119,312 (GRCm39) |
L1397P |
probably benign |
Het |
| Sh3bp1 |
T |
A |
15: 78,802,519 (GRCm39) |
V251E |
possibly damaging |
Het |
| Slc25a10 |
A |
T |
11: 120,387,900 (GRCm39) |
I198L |
probably benign |
Het |
| Smoc2 |
A |
T |
17: 14,589,233 (GRCm39) |
N234I |
possibly damaging |
Het |
| Spdl1 |
T |
A |
11: 34,710,136 (GRCm39) |
K382* |
probably null |
Het |
| Ssrp1 |
G |
A |
2: 84,872,660 (GRCm39) |
|
probably null |
Het |
| Tril |
G |
T |
6: 53,795,012 (GRCm39) |
R737S |
probably damaging |
Het |
| Triqk |
T |
A |
4: 12,974,817 (GRCm39) |
|
probably null |
Het |
| Ttc19 |
T |
C |
11: 62,174,519 (GRCm39) |
Y128H |
probably damaging |
Het |
| Vmn1r15 |
T |
C |
6: 57,235,677 (GRCm39) |
S182P |
possibly damaging |
Het |
| Vmn1r226 |
A |
G |
17: 20,908,475 (GRCm39) |
I236V |
probably damaging |
Het |
| Vmn2r120 |
A |
C |
17: 57,816,479 (GRCm39) |
N625K |
probably damaging |
Het |
| Vmn2r78 |
T |
C |
7: 86,569,362 (GRCm39) |
I85T |
probably damaging |
Het |
| Whamm |
C |
T |
7: 81,241,519 (GRCm39) |
R277* |
probably null |
Het |
| Wnt7a |
C |
T |
6: 91,371,468 (GRCm39) |
V165I |
probably benign |
Het |
| Zbtb40 |
A |
T |
4: 136,712,328 (GRCm39) |
Y1127N |
possibly damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,594,705 (GRCm39) |
H762Q |
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 |
|
|
R2079:Depdc5
|
UTSW |
5 |
33,104,018 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2131:Depdc5
|
UTSW |
5 |
33,148,125 (GRCm39) |
nonsense |
probably null |
|
|
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'- CTAGATCTCTGGGCTGTTGACTAG -3'
(R):5'- GGCTATCCCTACAGGTCAATAGG -3'
Sequencing Primer
(F):5'- GTGATTTCCAGAGATAGAAGCCTC -3'
(R):5'- CCCTACAGGTCAATAGGTTAAGTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation