Incidental Mutation 'R4765:Depdc5'
| ID |
366052 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Depdc5
|
| Ensembl Gene |
ENSMUSG00000037426 |
| Gene Name |
DEP domain containing 5 |
| Synonyms |
|
| MMRRC Submission |
042406-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4765 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
33021045-33151580 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 33094979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 752
(D752A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113980
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049780]
[ENSMUST00000087897]
[ENSMUST00000119705]
[ENSMUST00000120902]
[ENSMUST00000124780]
|
| AlphaFold |
P61460 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049780
AA Change: D752A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052807
Gene: ENSMUSG00000037426
AA Change: D752A
| 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 damaging
Transcript: ENSMUST00000087897
AA Change: D761A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085207
Gene: ENSMUSG00000037426
AA Change: D761A
| 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: D752A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113862
Gene: ENSMUSG00000037426
AA Change: D752A
| 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: D752A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113980
Gene: ENSMUSG00000037426
AA Change: D752A
| 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: D114A
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000120120
Gene: ENSMUSG00000037426
AA Change: D114A
| 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: D158A
|
| SMART Domains |
Protein: ENSMUSP00000121089
Gene: ENSMUSG00000037426
AA Change: D158A
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
C |
T |
11: 58,771,987 (GRCm39) |
R490C |
probably benign |
Het |
| Abcb11 |
A |
T |
2: 69,076,211 (GRCm39) |
F1166I |
probably damaging |
Het |
| Acta2 |
T |
C |
19: 34,223,552 (GRCm39) |
D181G |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,255,038 (GRCm39) |
I6195T |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Ankfy1 |
T |
G |
11: 72,603,117 (GRCm39) |
S49A |
probably benign |
Het |
| Azi2 |
A |
T |
9: 117,890,539 (GRCm39) |
|
probably benign |
Het |
| Bend3 |
A |
T |
10: 43,386,746 (GRCm39) |
S380C |
probably damaging |
Het |
| Bicc1 |
T |
C |
10: 70,776,423 (GRCm39) |
T759A |
probably damaging |
Het |
| Cdh10 |
G |
T |
15: 19,013,364 (GRCm39) |
V655L |
probably damaging |
Het |
| Cdkn2aip |
C |
A |
8: 48,166,582 (GRCm39) |
W75L |
probably damaging |
Het |
| Cenpj |
G |
A |
14: 56,787,002 (GRCm39) |
R192* |
probably null |
Het |
| Cflar |
T |
C |
1: 58,771,480 (GRCm39) |
S203P |
probably damaging |
Het |
| Chd6 |
A |
T |
2: 160,808,164 (GRCm39) |
C1683* |
probably null |
Het |
| Cpsf2 |
A |
G |
12: 101,963,699 (GRCm39) |
Y476C |
probably damaging |
Het |
| Cyp4a12a |
A |
G |
4: 115,183,388 (GRCm39) |
D169G |
possibly damaging |
Het |
| D430041D05Rik |
T |
A |
2: 104,044,441 (GRCm39) |
R1536S |
probably damaging |
Het |
| Dnah9 |
C |
T |
11: 65,818,552 (GRCm39) |
G78D |
probably damaging |
Het |
| Drc1 |
G |
T |
5: 30,506,075 (GRCm39) |
Q249H |
probably benign |
Het |
| Drg1 |
T |
C |
11: 3,200,280 (GRCm39) |
I364V |
probably benign |
Het |
| Dtymk |
T |
C |
1: 93,720,631 (GRCm39) |
H130R |
probably damaging |
Het |
| Elac2 |
T |
G |
11: 64,883,048 (GRCm39) |
F140V |
probably damaging |
Het |
| Enpp2 |
A |
G |
15: 54,739,068 (GRCm39) |
V353A |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,172,013 (GRCm39) |
D2900G |
probably damaging |
Het |
| Fermt2 |
G |
T |
14: 45,699,693 (GRCm39) |
T536K |
probably benign |
Het |
| Foxj2 |
G |
T |
6: 122,810,230 (GRCm39) |
Q196H |
probably benign |
Het |
| Gadl1 |
A |
G |
9: 115,795,381 (GRCm39) |
K328R |
probably null |
Het |
| Gata6 |
A |
G |
18: 11,054,394 (GRCm39) |
T108A |
probably benign |
Het |
| Gm16503 |
G |
T |
4: 147,625,554 (GRCm39) |
G16V |
unknown |
Het |
| Gpr37 |
T |
G |
6: 25,669,107 (GRCm39) |
E579A |
probably damaging |
Het |
| Gps2 |
T |
C |
11: 69,807,187 (GRCm39) |
|
probably benign |
Het |
| Hcn4 |
A |
T |
9: 58,765,260 (GRCm39) |
I581F |
unknown |
Het |
| Hfm1 |
T |
A |
5: 106,990,405 (GRCm39) |
Y1335F |
probably benign |
Het |
| Igsf10 |
A |
T |
3: 59,237,126 (GRCm39) |
S1018R |
probably benign |
Het |
| Katnal2 |
C |
T |
18: 77,065,239 (GRCm39) |
|
probably null |
Het |
| Kctd8 |
T |
C |
5: 69,498,191 (GRCm39) |
K152E |
possibly damaging |
Het |
| Lrp8 |
T |
C |
4: 107,711,592 (GRCm39) |
C459R |
probably damaging |
Het |
| Ly6l |
A |
T |
15: 75,321,543 (GRCm39) |
I48L |
probably benign |
Het |
| Megf10 |
A |
T |
18: 57,420,866 (GRCm39) |
I835F |
possibly damaging |
Het |
| Mei1 |
A |
T |
15: 81,996,686 (GRCm39) |
I946F |
possibly damaging |
Het |
| Mrtfb |
C |
A |
16: 13,230,458 (GRCm39) |
P1048T |
probably damaging |
Het |
| Myo7b |
G |
C |
18: 32,094,953 (GRCm39) |
L1881V |
probably benign |
Het |
| Nfkbiz |
T |
C |
16: 55,639,387 (GRCm39) |
|
probably null |
Het |
| Or4b13 |
T |
A |
2: 90,082,807 (GRCm39) |
Y175F |
probably damaging |
Het |
| Or5b24 |
T |
C |
19: 12,912,440 (GRCm39) |
C113R |
possibly damaging |
Het |
| Pcdhgc5 |
T |
C |
18: 37,955,122 (GRCm39) |
S799P |
probably benign |
Het |
| Plk4 |
A |
G |
3: 40,756,457 (GRCm39) |
E97G |
probably damaging |
Het |
| Pole2 |
A |
T |
12: 69,268,826 (GRCm39) |
H114Q |
possibly damaging |
Het |
| Rad9a |
C |
A |
19: 4,250,488 (GRCm39) |
V109L |
probably benign |
Het |
| Scn8a |
A |
G |
15: 100,938,352 (GRCm39) |
H1917R |
probably benign |
Het |
| Scyl2 |
C |
T |
10: 89,495,160 (GRCm39) |
V304I |
probably damaging |
Het |
| Serpina3f |
G |
C |
12: 104,185,690 (GRCm39) |
E298D |
probably benign |
Het |
| Shoc2 |
A |
G |
19: 53,976,734 (GRCm39) |
E208G |
probably benign |
Het |
| Sin3a |
G |
A |
9: 57,004,087 (GRCm39) |
V280I |
probably benign |
Het |
| Slc26a2 |
A |
T |
18: 61,332,558 (GRCm39) |
I291N |
probably damaging |
Het |
| Slc4a7 |
T |
G |
14: 14,762,414 (GRCm38) |
D600E |
probably damaging |
Het |
| Slc5a6 |
A |
T |
5: 31,195,427 (GRCm39) |
F430L |
possibly damaging |
Het |
| Snx19 |
A |
C |
9: 30,351,453 (GRCm39) |
Q840H |
probably damaging |
Het |
| Spast |
C |
A |
17: 74,676,211 (GRCm39) |
D340E |
probably damaging |
Het |
| Sprr4 |
G |
A |
3: 92,407,716 (GRCm39) |
P29S |
unknown |
Het |
| Stk11ip |
T |
G |
1: 75,503,799 (GRCm39) |
L239R |
probably damaging |
Het |
| Thoc6 |
A |
G |
17: 23,889,862 (GRCm39) |
L20P |
probably damaging |
Het |
| Tnfrsf8 |
A |
T |
4: 145,023,447 (GRCm39) |
S129T |
probably benign |
Het |
| Tnrc6c |
A |
G |
11: 117,633,753 (GRCm39) |
I1284V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,602,851 (GRCm39) |
Y16711C |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,541,331 (GRCm39) |
L33885P |
probably damaging |
Het |
| Ubn2 |
T |
A |
6: 38,456,075 (GRCm39) |
C501S |
probably damaging |
Het |
| Ubr1 |
A |
T |
2: 120,793,923 (GRCm39) |
L87* |
probably null |
Het |
| Uhmk1 |
T |
C |
1: 170,027,470 (GRCm39) |
Y320C |
probably damaging |
Het |
| Vldlr |
T |
C |
19: 27,217,947 (GRCm39) |
V465A |
probably damaging |
Het |
| Vmn1r1 |
C |
T |
1: 181,985,471 (GRCm39) |
A65T |
probably benign |
Het |
| Vmn2r25 |
C |
T |
6: 123,800,182 (GRCm39) |
C720Y |
probably damaging |
Het |
| Xrra1 |
T |
C |
7: 99,555,775 (GRCm39) |
Y381H |
probably benign |
Het |
| Zfhx4 |
T |
C |
3: 5,465,212 (GRCm39) |
L1790P |
probably benign |
Het |
| Zscan4d |
T |
A |
7: 10,896,594 (GRCm39) |
M259L |
probably benign |
Het |
|
| Other mutations in Depdc5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00861:Depdc5
|
APN |
5 |
33,125,158 (GRCm39) |
splice site |
probably null |
|
|
IGL01019:Depdc5
|
APN |
5 |
33,050,745 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01067:Depdc5
|
APN |
5 |
33,056,411 (GRCm39) |
splice site |
probably null |
|
|
IGL01405:Depdc5
|
APN |
5 |
33,095,033 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01577:Depdc5
|
APN |
5 |
33,113,241 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01633:Depdc5
|
APN |
5 |
33,081,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01998:Depdc5
|
APN |
5 |
33,102,495 (GRCm39) |
splice site |
probably benign |
|
|
IGL02025:Depdc5
|
APN |
5 |
33,103,976 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02167:Depdc5
|
APN |
5 |
33,061,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02537:Depdc5
|
APN |
5 |
33,125,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02812:Depdc5
|
APN |
5 |
33,050,712 (GRCm39) |
splice site |
probably benign |
|
|
IGL03001:Depdc5
|
APN |
5 |
33,102,434 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL03253:Depdc5
|
APN |
5 |
33,026,157 (GRCm39) |
unclassified |
probably benign |
|
|
alligator
|
UTSW |
5 |
33,121,851 (GRCm39) |
splice site |
probably null |
|
|
lagarto
|
UTSW |
5 |
33,136,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
sauros
|
UTSW |
5 |
33,144,310 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02988:Depdc5
|
UTSW |
5 |
33,113,511 (GRCm39) |
splice site |
probably null |
|
|
R0038:Depdc5
|
UTSW |
5 |
33,026,197 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0038:Depdc5
|
UTSW |
5 |
33,026,197 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0153:Depdc5
|
UTSW |
5 |
33,091,281 (GRCm39) |
splice site |
probably benign |
|
|
R0179:Depdc5
|
UTSW |
5 |
33,058,918 (GRCm39) |
unclassified |
probably benign |
|
|
R0212:Depdc5
|
UTSW |
5 |
33,069,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0239:Depdc5
|
UTSW |
5 |
33,100,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Depdc5
|
UTSW |
5 |
33,100,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0302:Depdc5
|
UTSW |
5 |
33,061,890 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R0511:Depdc5
|
UTSW |
5 |
33,102,372 (GRCm39) |
nonsense |
probably null |
|
|
R0677:Depdc5
|
UTSW |
5 |
33,058,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0884:Depdc5
|
UTSW |
5 |
33,075,322 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0973:Depdc5
|
UTSW |
5 |
33,144,310 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1314:Depdc5
|
UTSW |
5 |
33,034,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1611:Depdc5
|
UTSW |
5 |
33,148,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1687:Depdc5
|
UTSW |
5 |
33,067,751 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R1748:Depdc5
|
UTSW |
5 |
33,075,286 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1903:Depdc5
|
UTSW |
5 |
33,067,751 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R1956:Depdc5
|
UTSW |
5 |
33,061,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1997:Depdc5
|
UTSW |
5 |
33,059,250 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2079:Depdc5
|
UTSW |
5 |
33,104,018 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2131:Depdc5
|
UTSW |
5 |
33,148,125 (GRCm39) |
nonsense |
probably null |
|
|
R2291:Depdc5
|
UTSW |
5 |
33,136,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2422:Depdc5
|
UTSW |
5 |
33,148,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2851:Depdc5
|
UTSW |
5 |
33,081,515 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2852:Depdc5
|
UTSW |
5 |
33,081,515 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2937:Depdc5
|
UTSW |
5 |
33,058,965 (GRCm39) |
splice site |
probably null |
|
|
R2938:Depdc5
|
UTSW |
5 |
33,058,965 (GRCm39) |
splice site |
probably null |
|
|
R2974:Depdc5
|
UTSW |
5 |
33,091,361 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3884:Depdc5
|
UTSW |
5 |
33,101,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3967:Depdc5
|
UTSW |
5 |
33,101,459 (GRCm39) |
nonsense |
probably null |
|
|
R4118:Depdc5
|
UTSW |
5 |
33,121,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4197:Depdc5
|
UTSW |
5 |
33,148,547 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4407:Depdc5
|
UTSW |
5 |
33,061,878 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4534:Depdc5
|
UTSW |
5 |
33,067,751 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R4535:Depdc5
|
UTSW |
5 |
33,067,751 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R4538:Depdc5
|
UTSW |
5 |
33,141,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4613:Depdc5
|
UTSW |
5 |
33,132,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4736:Depdc5
|
UTSW |
5 |
33,132,666 (GRCm39) |
missense |
probably benign |
|
|
R4738:Depdc5
|
UTSW |
5 |
33,132,666 (GRCm39) |
missense |
probably benign |
|
|
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'- CGGCTGTGAATCCCATTTGC -3'
(R):5'- CGAAAGGCTTCAAACCTCAGTG -3'
Sequencing Primer
(F):5'- CTGTGAATCCCATTTGCATGATG -3'
(R):5'- AAAGGCTTCAAACCTCAGTGTTCTTC -3'
|
| Posted On |
2015-12-21 |
Incidental Mutation