Incidental Mutation 'R1997:Depdc5'
| ID |
224308 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Depdc5
|
| Ensembl Gene |
ENSMUSG00000037426 |
| Gene Name |
DEP domain containing 5 |
| Synonyms |
|
| MMRRC Submission |
040007-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1997 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
33021045-33151580 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 33059250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113980
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049780]
[ENSMUST00000049780]
[ENSMUST00000087897]
[ENSMUST00000087897]
[ENSMUST00000119705]
[ENSMUST00000119705]
[ENSMUST00000120902]
[ENSMUST00000120902]
[ENSMUST00000120902]
[ENSMUST00000120902]
[ENSMUST00000195980]
[ENSMUST00000195980]
|
| AlphaFold |
P61460 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000049780
|
| SMART Domains |
Protein: ENSMUSP00000052807
Gene: ENSMUSG00000037426
| 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 null
Transcript: ENSMUST00000049780
|
| SMART Domains |
Protein: ENSMUSP00000052807
Gene: ENSMUSG00000037426
| 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 null
Transcript: ENSMUST00000087897
|
| SMART Domains |
Protein: ENSMUSP00000085207
Gene: ENSMUSG00000037426
| 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 null
Transcript: ENSMUST00000087897
|
| SMART Domains |
Protein: ENSMUSP00000085207
Gene: ENSMUSG00000037426
| 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 null
Transcript: ENSMUST00000119705
|
| SMART Domains |
Protein: ENSMUSP00000113862
Gene: ENSMUSG00000037426
| 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 null
Transcript: ENSMUST00000119705
|
| SMART Domains |
Protein: ENSMUSP00000113862
Gene: ENSMUSG00000037426
| 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 null
Transcript: ENSMUST00000120902
|
| SMART Domains |
Protein: ENSMUSP00000113980
Gene: ENSMUSG00000037426
| 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 null
Transcript: ENSMUST00000120902
|
| SMART Domains |
Protein: ENSMUSP00000113980
Gene: ENSMUSG00000037426
| 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 null
Transcript: ENSMUST00000120902
|
| SMART Domains |
Protein: ENSMUSP00000113980
Gene: ENSMUSG00000037426
| 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 null
Transcript: ENSMUST00000120902
|
| SMART Domains |
Protein: ENSMUSP00000113980
Gene: ENSMUSG00000037426
| 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 |
noncoding transcript
Transcript: ENSMUST00000139098
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195980
|
| SMART Domains |
Protein: ENSMUSP00000143228
Gene: ENSMUSG00000037426
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3608
|
100 |
147 |
4e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195980
|
| SMART Domains |
Protein: ENSMUSP00000143228
Gene: ENSMUSG00000037426
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3608
|
100 |
147 |
4e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201802
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201836
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.2%
|
| 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: 100 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
G |
14: 32,382,005 (GRCm39) |
F1320S |
possibly damaging |
Het |
| Aaas |
C |
T |
15: 102,248,494 (GRCm39) |
V241I |
probably benign |
Het |
| Abca17 |
A |
G |
17: 24,504,700 (GRCm39) |
I1233T |
probably benign |
Het |
| Acin1 |
T |
C |
14: 54,884,156 (GRCm39) |
|
probably null |
Het |
| Acly |
A |
T |
11: 100,409,977 (GRCm39) |
I185N |
probably damaging |
Het |
| Adamts16 |
T |
C |
13: 70,901,386 (GRCm39) |
D897G |
probably benign |
Het |
| Allc |
A |
C |
12: 28,613,482 (GRCm39) |
D153E |
probably benign |
Het |
| Ankrd12 |
A |
G |
17: 66,291,879 (GRCm39) |
S1185P |
probably damaging |
Het |
| Aoc1l2 |
A |
T |
6: 48,909,363 (GRCm39) |
Q536L |
probably damaging |
Het |
| Ap1g2 |
T |
C |
14: 55,339,835 (GRCm39) |
E448G |
probably benign |
Het |
| Atg9a |
A |
T |
1: 75,166,270 (GRCm39) |
V50D |
probably benign |
Het |
| Bace2 |
A |
T |
16: 97,216,289 (GRCm39) |
D294V |
possibly damaging |
Het |
| Camsap2 |
T |
C |
1: 136,199,283 (GRCm39) |
K708E |
probably damaging |
Het |
| Card10 |
G |
A |
15: 78,678,175 (GRCm39) |
R358C |
probably damaging |
Het |
| Ccdc81 |
A |
T |
7: 89,547,271 (GRCm39) |
V39E |
probably damaging |
Het |
| Cdh20 |
A |
T |
1: 109,976,668 (GRCm39) |
D111V |
probably damaging |
Het |
| Cercam |
C |
A |
2: 29,762,935 (GRCm39) |
T223K |
probably benign |
Het |
| Cimip2a |
T |
G |
2: 25,110,217 (GRCm39) |
L43R |
probably damaging |
Het |
| Cog5 |
A |
G |
12: 31,710,848 (GRCm39) |
H76R |
possibly damaging |
Het |
| Col28a1 |
A |
T |
6: 7,999,644 (GRCm39) |
N1024K |
probably benign |
Het |
| Csrnp3 |
A |
T |
2: 65,779,446 (GRCm39) |
N41Y |
probably damaging |
Het |
| Cyp2t4 |
G |
A |
7: 26,857,038 (GRCm39) |
|
probably null |
Het |
| Dbn1 |
T |
C |
13: 55,630,254 (GRCm39) |
H38R |
probably damaging |
Het |
| Dclre1b |
A |
G |
3: 103,710,672 (GRCm39) |
V287A |
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,755,634 (GRCm39) |
T1609A |
probably benign |
Het |
| Dhcr7 |
T |
G |
7: 143,401,167 (GRCm39) |
D446E |
probably damaging |
Het |
| Dlx5 |
A |
T |
6: 6,879,680 (GRCm39) |
M129K |
possibly damaging |
Het |
| Dnah11 |
C |
G |
12: 118,046,203 (GRCm39) |
G1745A |
possibly damaging |
Het |
| Dnm3 |
T |
C |
1: 162,181,281 (GRCm39) |
T133A |
possibly damaging |
Het |
| Eif3e |
A |
G |
15: 43,129,005 (GRCm39) |
L205P |
probably damaging |
Het |
| Fam91a1 |
A |
G |
15: 58,296,044 (GRCm39) |
|
probably null |
Het |
| Fank1 |
C |
T |
7: 133,463,954 (GRCm39) |
T50I |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,223,473 (GRCm39) |
T940A |
possibly damaging |
Het |
| Fkbp10 |
T |
C |
11: 100,306,841 (GRCm39) |
F78L |
probably damaging |
Het |
| Gabbr2 |
A |
C |
4: 46,787,502 (GRCm39) |
F387C |
probably damaging |
Het |
| Ggnbp2 |
A |
T |
11: 84,751,387 (GRCm39) |
L138I |
probably damaging |
Het |
| Gm2832 |
T |
A |
14: 41,002,943 (GRCm39) |
|
probably null |
Het |
| Gm5084 |
T |
A |
13: 60,360,344 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9979 |
T |
C |
13: 40,859,228 (GRCm39) |
|
noncoding transcript |
Het |
| Hepacam2 |
A |
G |
6: 3,487,241 (GRCm39) |
S39P |
probably damaging |
Het |
| Hesx1 |
A |
T |
14: 26,723,340 (GRCm39) |
N57Y |
probably damaging |
Het |
| Kcnh1 |
G |
A |
1: 191,959,243 (GRCm39) |
V266I |
probably damaging |
Het |
| Kif24 |
T |
C |
4: 41,392,904 (GRCm39) |
T1168A |
possibly damaging |
Het |
| Kng2 |
A |
T |
16: 22,843,626 (GRCm39) |
F118I |
possibly damaging |
Het |
| Lig3 |
C |
T |
11: 82,678,492 (GRCm39) |
P245S |
probably benign |
Het |
| Loxhd1 |
G |
T |
18: 77,383,465 (GRCm39) |
W121C |
probably damaging |
Het |
| Ltn1 |
A |
G |
16: 87,178,525 (GRCm39) |
V1568A |
probably damaging |
Het |
| Map3k4 |
A |
T |
17: 12,473,882 (GRCm39) |
|
probably null |
Het |
| Mcm10 |
C |
T |
2: 4,998,571 (GRCm39) |
V790M |
probably damaging |
Het |
| Mia3 |
A |
T |
1: 183,125,707 (GRCm39) |
F1223I |
possibly damaging |
Het |
| Mlec |
C |
A |
5: 115,288,405 (GRCm39) |
K150N |
probably damaging |
Het |
| Morn4 |
T |
C |
19: 42,064,977 (GRCm39) |
K70R |
possibly damaging |
Het |
| Mphosph10 |
A |
C |
7: 64,037,195 (GRCm39) |
|
probably null |
Het |
| Myocd |
G |
A |
11: 65,095,147 (GRCm39) |
Q47* |
probably null |
Het |
| Nav2 |
T |
A |
7: 49,198,219 (GRCm39) |
S1283T |
probably benign |
Het |
| Nbeal2 |
T |
C |
9: 110,461,266 (GRCm39) |
H1599R |
probably damaging |
Het |
| Nek10 |
G |
T |
14: 14,827,003 (GRCm38) |
G67V |
probably benign |
Het |
| Nlgn2 |
A |
C |
11: 69,718,876 (GRCm39) |
V271G |
probably damaging |
Het |
| Or1o2 |
A |
G |
17: 37,542,523 (GRCm39) |
V246A |
probably damaging |
Het |
| Or2l5 |
A |
C |
16: 19,333,792 (GRCm39) |
V198G |
probably damaging |
Het |
| Pcolce2 |
A |
T |
9: 95,576,793 (GRCm39) |
M355L |
probably benign |
Het |
| Per2 |
T |
C |
1: 91,368,581 (GRCm39) |
E264G |
probably damaging |
Het |
| Phf2 |
A |
G |
13: 48,982,384 (GRCm39) |
L113P |
unknown |
Het |
| Piwil2 |
A |
G |
14: 70,664,107 (GRCm39) |
V14A |
possibly damaging |
Het |
| Plekha6 |
G |
A |
1: 133,191,556 (GRCm39) |
A146T |
probably benign |
Het |
| Plxnb2 |
C |
T |
15: 89,042,971 (GRCm39) |
V1473I |
probably benign |
Het |
| Pms2 |
T |
C |
5: 143,850,518 (GRCm39) |
L111P |
probably damaging |
Het |
| Polg |
A |
G |
7: 79,108,979 (GRCm39) |
L533P |
probably damaging |
Het |
| Ppp1r12b |
A |
G |
1: 134,774,093 (GRCm39) |
|
probably benign |
Het |
| Ppp2r1b |
T |
A |
9: 50,778,671 (GRCm39) |
M208K |
possibly damaging |
Het |
| Prdm5 |
A |
G |
6: 65,913,072 (GRCm39) |
Y207C |
probably damaging |
Het |
| Prkar2b |
A |
G |
12: 32,013,934 (GRCm39) |
V314A |
probably damaging |
Het |
| Proser1 |
T |
A |
3: 53,386,292 (GRCm39) |
S725T |
probably benign |
Het |
| Psg20 |
A |
G |
7: 18,416,535 (GRCm39) |
F194L |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,050,496 (GRCm39) |
I2255V |
probably damaging |
Het |
| Sardh |
T |
G |
2: 27,134,409 (GRCm39) |
T36P |
probably damaging |
Het |
| Sec23a |
T |
A |
12: 59,048,793 (GRCm39) |
I110L |
probably benign |
Het |
| Slc22a29 |
T |
A |
19: 8,195,162 (GRCm39) |
I158L |
probably benign |
Het |
| Slc35c1 |
T |
C |
2: 92,284,984 (GRCm39) |
D210G |
probably benign |
Het |
| Syde2 |
A |
G |
3: 145,704,746 (GRCm39) |
N566S |
probably benign |
Het |
| Tcf20 |
G |
A |
15: 82,741,431 (GRCm39) |
Q7* |
probably null |
Het |
| Terb2 |
T |
A |
2: 122,035,338 (GRCm39) |
H186Q |
possibly damaging |
Het |
| Tet2 |
G |
A |
3: 133,192,350 (GRCm39) |
Q695* |
probably null |
Het |
| Tnfaip1 |
T |
C |
11: 78,420,973 (GRCm39) |
Y29C |
probably damaging |
Het |
| Traf3 |
A |
G |
12: 111,227,095 (GRCm39) |
K328E |
probably benign |
Het |
| Uaca |
A |
G |
9: 60,777,623 (GRCm39) |
E668G |
probably damaging |
Het |
| Ube2o |
T |
A |
11: 116,436,163 (GRCm39) |
E326V |
probably damaging |
Het |
| Ubr1 |
C |
T |
2: 120,776,754 (GRCm39) |
|
probably null |
Het |
| Vmn1r19 |
T |
A |
6: 57,382,033 (GRCm39) |
S195R |
probably damaging |
Het |
| Vmn1r213 |
T |
G |
13: 23,196,473 (GRCm39) |
V352G |
probably benign |
Het |
| Vmn2r19 |
T |
A |
6: 123,292,880 (GRCm39) |
D307E |
probably damaging |
Het |
| Wdfy3 |
T |
C |
5: 102,116,812 (GRCm39) |
D76G |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,401,376 (GRCm39) |
C4114* |
probably null |
Het |
| Zbed6 |
A |
G |
1: 133,584,451 (GRCm39) |
L962P |
probably damaging |
Het |
| Zdhhc23 |
A |
T |
16: 43,799,305 (GRCm39) |
C37S |
probably damaging |
Het |
| Zfp628 |
G |
T |
7: 4,921,831 (GRCm39) |
G18W |
probably damaging |
Het |
| Zfp712 |
T |
A |
13: 67,190,114 (GRCm39) |
K138* |
probably null |
Het |
| Zfp867 |
A |
T |
11: 59,354,417 (GRCm39) |
V304D |
probably damaging |
Het |
| Zfp870 |
T |
C |
17: 33,103,027 (GRCm39) |
T102A |
possibly damaging |
Het |
| Zmym5 |
G |
A |
14: 57,035,210 (GRCm39) |
S286L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTGTCAGAGCTGCCTTC -3'
(R):5'- TCTAAAATCAGCTGAGGGATGGTG -3'
Sequencing Primer
(F):5'- CTGAGATTAAAAGTGTGAGCCTCCAC -3'
(R):5'- TGATTCCCCAGCAGAAGGC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation