Incidental Mutation 'R0511:Depdc5'
| ID |
46892 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Depdc5
|
| Ensembl Gene |
ENSMUSG00000037426 |
| Gene Name |
DEP domain containing 5 |
| Synonyms |
|
| MMRRC Submission |
038705-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0511 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
33021045-33151580 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 33102372 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 365
(Y365*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049780]
[ENSMUST00000087897]
[ENSMUST00000119705]
[ENSMUST00000120902]
[ENSMUST00000124780]
[ENSMUST00000130461]
|
| AlphaFold |
P61460 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000049780
AA Change: Y959*
|
| SMART Domains |
Protein: ENSMUSP00000052807
Gene: ENSMUSG00000037426
AA Change: Y959*
| 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
AA Change: Y968*
|
| SMART Domains |
Protein: ENSMUSP00000085207
Gene: ENSMUSG00000037426
AA Change: Y968*
| 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
AA Change: Y959*
|
| SMART Domains |
Protein: ENSMUSP00000113862
Gene: ENSMUSG00000037426
AA Change: Y959*
| 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
AA Change: Y959*
|
| SMART Domains |
Protein: ENSMUSP00000113980
Gene: ENSMUSG00000037426
AA Change: Y959*
| 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: ENSMUST00000124780
AA Change: Y321*
|
| SMART Domains |
Protein: ENSMUSP00000120120
Gene: ENSMUSG00000037426
AA Change: Y321*
| 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 |
probably null
Transcript: ENSMUST00000130461
AA Change: Y44*
|
| SMART Domains |
Protein: ENSMUSP00000118681
Gene: ENSMUSG00000037426
AA Change: Y44*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
70 |
82 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000137169
AA Change: Y365*
|
| SMART Domains |
Protein: ENSMUSP00000121089
Gene: ENSMUSG00000037426
AA Change: Y365*
| 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: ENSMUST00000141812
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201802
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
100% (116/116) |
| 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: 118 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
A |
G |
3: 59,843,771 (GRCm39) |
H155R |
possibly damaging |
Het |
| Abca13 |
G |
T |
11: 9,244,559 (GRCm39) |
V2141L |
probably benign |
Het |
| Adam17 |
T |
C |
12: 21,390,459 (GRCm39) |
|
probably benign |
Het |
| Adam3 |
A |
T |
8: 25,185,331 (GRCm39) |
C456S |
probably damaging |
Het |
| Aldh4a1 |
G |
T |
4: 139,369,882 (GRCm39) |
|
probably benign |
Het |
| Anapc4 |
A |
G |
5: 52,999,359 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
A |
T |
10: 69,718,198 (GRCm39) |
Q483L |
probably damaging |
Het |
| Ankle2 |
A |
G |
5: 110,389,925 (GRCm39) |
|
probably benign |
Het |
| Ankrd13b |
T |
A |
11: 77,364,114 (GRCm39) |
T150S |
possibly damaging |
Het |
| Apeh |
A |
G |
9: 107,964,254 (GRCm39) |
M524T |
probably benign |
Het |
| Arl14epl |
T |
A |
18: 47,059,484 (GRCm39) |
|
probably null |
Het |
| Atg2a |
T |
C |
19: 6,302,569 (GRCm39) |
F964S |
possibly damaging |
Het |
| Atg2b |
C |
T |
12: 105,583,412 (GRCm39) |
V2050M |
probably damaging |
Het |
| Atp2b4 |
A |
T |
1: 133,659,956 (GRCm39) |
|
probably benign |
Het |
| Bbof1 |
T |
A |
12: 84,477,045 (GRCm39) |
S512T |
probably benign |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Car10 |
T |
C |
11: 93,381,408 (GRCm39) |
Y100H |
probably damaging |
Het |
| Ccdc81 |
T |
A |
7: 89,542,504 (GRCm39) |
E124V |
probably damaging |
Het |
| Cd84 |
A |
G |
1: 171,700,494 (GRCm39) |
T204A |
probably benign |
Het |
| Celf2 |
A |
G |
2: 6,608,987 (GRCm39) |
S178P |
probably damaging |
Het |
| Chat |
G |
A |
14: 32,130,976 (GRCm39) |
T555M |
probably damaging |
Het |
| Chd6 |
A |
G |
2: 160,834,111 (GRCm39) |
F917S |
probably damaging |
Het |
| Chrna2 |
C |
A |
14: 66,386,553 (GRCm39) |
T233N |
probably damaging |
Het |
| Cnpy2 |
T |
C |
10: 128,162,054 (GRCm39) |
V109A |
probably benign |
Het |
| Col4a1 |
T |
C |
8: 11,258,333 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
C |
T |
8: 15,982,529 (GRCm39) |
V2713M |
possibly damaging |
Het |
| Cuedc1 |
G |
A |
11: 88,074,231 (GRCm39) |
R255Q |
probably damaging |
Het |
| Cxcl15 |
A |
T |
5: 90,945,897 (GRCm39) |
|
probably benign |
Het |
| Dach1 |
A |
T |
14: 98,138,765 (GRCm39) |
H559Q |
possibly damaging |
Het |
| Dele1 |
T |
C |
18: 38,387,124 (GRCm39) |
|
probably null |
Het |
| Dennd4c |
C |
T |
4: 86,744,259 (GRCm39) |
T1367M |
probably damaging |
Het |
| Dicer1 |
T |
C |
12: 104,669,100 (GRCm39) |
Y1194C |
possibly damaging |
Het |
| Dmxl1 |
C |
G |
18: 50,024,534 (GRCm39) |
S1736* |
probably null |
Het |
| Dnah7a |
C |
T |
1: 53,536,285 (GRCm39) |
R2586K |
probably benign |
Het |
| Dnajb8 |
T |
C |
6: 88,199,467 (GRCm39) |
M1T |
probably null |
Het |
| Dync2h1 |
G |
A |
9: 7,122,692 (GRCm39) |
P2088L |
probably benign |
Het |
| Eftud2 |
T |
G |
11: 102,735,048 (GRCm39) |
H617P |
probably damaging |
Het |
| Ephb1 |
A |
G |
9: 101,873,179 (GRCm39) |
|
probably benign |
Het |
| Fam184a |
G |
T |
10: 53,574,975 (GRCm39) |
H155Q |
probably benign |
Het |
| Firrm |
T |
C |
1: 163,799,412 (GRCm39) |
|
probably null |
Het |
| Ganc |
G |
T |
2: 120,278,882 (GRCm39) |
E700* |
probably null |
Het |
| Gm10912 |
A |
G |
2: 103,897,290 (GRCm39) |
|
probably benign |
Het |
| Haus5 |
A |
T |
7: 30,358,492 (GRCm39) |
I294N |
probably damaging |
Het |
| Hmgcr |
G |
T |
13: 96,796,651 (GRCm39) |
|
probably null |
Het |
| Hr |
T |
A |
14: 70,799,352 (GRCm39) |
C641* |
probably null |
Het |
| Itga10 |
A |
G |
3: 96,565,490 (GRCm39) |
N1038S |
probably damaging |
Het |
| Itgb1bp1 |
T |
G |
12: 21,321,436 (GRCm39) |
Y172S |
probably damaging |
Het |
| Kprp |
T |
C |
3: 92,732,030 (GRCm39) |
N340S |
probably damaging |
Het |
| Kremen1 |
A |
G |
11: 5,165,447 (GRCm39) |
I41T |
probably damaging |
Het |
| Krt6b |
A |
G |
15: 101,586,042 (GRCm39) |
|
probably benign |
Het |
| Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
| Ldhd |
A |
G |
8: 112,356,309 (GRCm39) |
Y86H |
probably benign |
Het |
| Lilra6 |
A |
T |
7: 3,915,784 (GRCm39) |
I76N |
possibly damaging |
Het |
| Mak |
T |
C |
13: 41,199,743 (GRCm39) |
T299A |
probably benign |
Het |
| Med25 |
A |
G |
7: 44,534,502 (GRCm39) |
|
probably null |
Het |
| Mpg |
A |
T |
11: 32,180,039 (GRCm39) |
N189I |
probably damaging |
Het |
| Mroh8 |
A |
G |
2: 157,071,838 (GRCm39) |
Y556H |
probably damaging |
Het |
| Myh8 |
T |
A |
11: 67,175,333 (GRCm39) |
S294T |
probably benign |
Het |
| Myom1 |
T |
A |
17: 71,391,312 (GRCm39) |
D842E |
probably benign |
Het |
| Myorg |
A |
G |
4: 41,498,538 (GRCm39) |
F364S |
probably damaging |
Het |
| Nat2 |
C |
T |
8: 67,953,982 (GRCm39) |
Q31* |
probably null |
Het |
| Nf1 |
T |
A |
11: 79,329,595 (GRCm39) |
M653K |
probably benign |
Het |
| Nhs |
C |
A |
X: 160,620,355 (GRCm39) |
R1467I |
probably damaging |
Het |
| Npr2 |
A |
G |
4: 43,632,801 (GRCm39) |
E206G |
probably benign |
Het |
| Nsd3 |
G |
A |
8: 26,168,732 (GRCm39) |
G629D |
possibly damaging |
Het |
| Nwd1 |
G |
A |
8: 73,408,633 (GRCm39) |
C831Y |
probably damaging |
Het |
| Or52r1c |
T |
C |
7: 102,735,058 (GRCm39) |
I111T |
probably damaging |
Het |
| Or5t9 |
A |
G |
2: 86,659,950 (GRCm39) |
I285V |
probably benign |
Het |
| P2ry14 |
A |
G |
3: 59,023,449 (GRCm39) |
S4P |
possibly damaging |
Het |
| Parp4 |
A |
G |
14: 56,873,172 (GRCm39) |
|
probably benign |
Het |
| Pate14 |
A |
T |
9: 36,549,873 (GRCm39) |
|
probably null |
Het |
| Pclo |
A |
G |
5: 14,728,299 (GRCm39) |
|
probably benign |
Het |
| Pclo |
T |
C |
5: 14,729,412 (GRCm39) |
|
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,240,429 (GRCm39) |
S1202T |
possibly damaging |
Het |
| Pfkfb4 |
A |
G |
9: 108,856,825 (GRCm39) |
Y412C |
probably damaging |
Het |
| Pgm2 |
T |
A |
5: 64,267,898 (GRCm39) |
V449D |
probably damaging |
Het |
| Poldip3 |
T |
A |
15: 83,022,436 (GRCm39) |
D116V |
probably damaging |
Het |
| Pom121 |
G |
T |
5: 135,410,686 (GRCm39) |
Q824K |
unknown |
Het |
| Prkdc |
G |
T |
16: 15,649,146 (GRCm39) |
G3707* |
probably null |
Het |
| Prr14l |
T |
C |
5: 33,001,560 (GRCm39) |
|
probably benign |
Het |
| Ptbp2 |
T |
G |
3: 119,514,613 (GRCm39) |
I405L |
probably benign |
Het |
| Rad21l |
A |
T |
2: 151,490,989 (GRCm39) |
|
probably benign |
Het |
| Rbm6 |
G |
A |
9: 107,724,488 (GRCm39) |
Q488* |
probably null |
Het |
| Rdh1 |
T |
A |
10: 127,600,652 (GRCm39) |
M225K |
probably benign |
Het |
| Recql5 |
T |
C |
11: 115,819,209 (GRCm39) |
D119G |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
T |
C |
16: 72,810,013 (GRCm39) |
|
probably null |
Het |
| Samd12 |
G |
A |
15: 53,723,567 (GRCm39) |
T42I |
probably benign |
Het |
| Scn10a |
A |
T |
9: 119,442,766 (GRCm39) |
M1494K |
probably damaging |
Het |
| Sec31a |
G |
A |
5: 100,523,099 (GRCm39) |
P864L |
probably benign |
Het |
| Senp2 |
T |
C |
16: 21,855,320 (GRCm39) |
V344A |
probably benign |
Het |
| Serpina5 |
G |
A |
12: 104,069,621 (GRCm39) |
D278N |
probably benign |
Het |
| Sh3tc1 |
A |
T |
5: 35,860,806 (GRCm39) |
V1017D |
probably damaging |
Het |
| Sin3a |
T |
A |
9: 57,004,179 (GRCm39) |
Y310* |
probably null |
Het |
| Slc25a32 |
T |
C |
15: 38,960,940 (GRCm39) |
T248A |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Slc4a10 |
G |
A |
2: 62,117,206 (GRCm39) |
V722M |
probably damaging |
Het |
| Slco1a4 |
A |
G |
6: 141,776,586 (GRCm39) |
|
probably benign |
Het |
| Smg6 |
T |
A |
11: 74,819,884 (GRCm39) |
Y52N |
probably damaging |
Het |
| Sncb |
T |
G |
13: 54,913,400 (GRCm39) |
T33P |
probably damaging |
Het |
| Spef2 |
A |
G |
15: 9,584,070 (GRCm39) |
|
probably null |
Het |
| Spmip1 |
G |
T |
6: 29,478,169 (GRCm39) |
|
probably benign |
Het |
| Sugp1 |
A |
G |
8: 70,512,013 (GRCm39) |
E203G |
probably damaging |
Het |
| Suv39h2 |
A |
T |
2: 3,473,616 (GRCm39) |
C105S |
probably damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,963 (GRCm39) |
F205I |
probably damaging |
Het |
| Tnip1 |
A |
T |
11: 54,808,699 (GRCm39) |
M496K |
probably damaging |
Het |
| Tnxb |
G |
A |
17: 34,937,219 (GRCm39) |
E2889K |
probably damaging |
Het |
| Trim30b |
T |
A |
7: 104,015,010 (GRCm39) |
H126L |
possibly damaging |
Het |
| Trpm7 |
A |
T |
2: 126,668,638 (GRCm39) |
Y759* |
probably null |
Het |
| Ttc17 |
A |
G |
2: 94,153,465 (GRCm39) |
I1000T |
possibly damaging |
Het |
| Ttc27 |
A |
T |
17: 75,025,710 (GRCm39) |
N61I |
probably benign |
Het |
| Uba6 |
T |
C |
5: 86,260,609 (GRCm39) |
Y990C |
probably damaging |
Het |
| Vav3 |
A |
G |
3: 109,571,756 (GRCm39) |
|
probably benign |
Het |
| Vmn2r55 |
C |
T |
7: 12,404,945 (GRCm39) |
A153T |
possibly damaging |
Het |
| Wars2 |
A |
G |
3: 99,123,865 (GRCm39) |
D242G |
probably damaging |
Het |
| Xylt2 |
G |
A |
11: 94,560,762 (GRCm39) |
Q259* |
probably null |
Het |
| Zfp27 |
G |
A |
7: 29,593,947 (GRCm39) |
P673S |
probably damaging |
Het |
| Zgrf1 |
T |
C |
3: 127,378,309 (GRCm39) |
I1023T |
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 |
|
|
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 |
|
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'- GGACTATCTTGCACCAGCTTCAGAG -3'
(R):5'- TCATCCTTCAACAGGTAACGACTGC -3'
Sequencing Primer
(F):5'- TGAAGTTCTGGAGAACCCGA -3'
(R):5'- GTAGTCATGGGATACATCACCTG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation