Incidental Mutation 'R4613:Depdc5'
| ID |
350948 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Depdc5
|
| Ensembl Gene |
ENSMUSG00000037426 |
| Gene Name |
DEP domain containing 5 |
| Synonyms |
|
| MMRRC Submission |
041824-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4613 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
33021045-33151580 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33132790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 1300
(L1300H)
|
| 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: L1309H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000085207
Gene: ENSMUSG00000037426
AA Change: L1309H
| 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: L1300H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113862
Gene: ENSMUSG00000037426
AA Change: L1300H
| 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: L1278H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113980
Gene: ENSMUSG00000037426
AA Change: L1278H
| 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
AA Change: S626T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000120120
Gene: ENSMUSG00000037426
AA Change: S626T
| 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 |
noncoding transcript
Transcript: ENSMUST00000127560
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000137169
AA Change: L684H
|
| SMART Domains |
Protein: ENSMUSP00000121089
Gene: ENSMUSG00000037426
AA Change: L684H
| 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: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
A |
T |
17: 48,439,167 (GRCm39) |
L130I |
probably benign |
Het |
| Abca9 |
A |
G |
11: 110,035,610 (GRCm39) |
V670A |
probably benign |
Het |
| Adad1 |
A |
G |
3: 37,146,182 (GRCm39) |
N517D |
probably damaging |
Het |
| Ankle2 |
T |
C |
5: 110,379,245 (GRCm39) |
L48P |
probably benign |
Het |
| Aoc3 |
A |
T |
11: 101,228,485 (GRCm39) |
|
probably benign |
Het |
| Areg |
A |
G |
5: 91,291,363 (GRCm39) |
K102R |
probably benign |
Het |
| Bmp1 |
T |
C |
14: 70,745,963 (GRCm39) |
T167A |
probably damaging |
Het |
| C4b |
C |
T |
17: 34,953,525 (GRCm39) |
G986D |
probably benign |
Het |
| Caml |
G |
T |
13: 55,772,955 (GRCm39) |
G200C |
probably damaging |
Het |
| Ccdc40 |
A |
C |
11: 119,122,358 (GRCm39) |
R53S |
probably benign |
Het |
| Cdh22 |
T |
A |
2: 164,985,576 (GRCm39) |
I337L |
probably benign |
Het |
| Col12a1 |
A |
T |
9: 79,554,883 (GRCm39) |
V2065D |
probably benign |
Het |
| Copg2 |
A |
G |
6: 30,788,531 (GRCm39) |
S591P |
probably benign |
Het |
| Cyp2d34 |
G |
A |
15: 82,500,526 (GRCm39) |
P438S |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,421,931 (GRCm39) |
D163G |
probably damaging |
Het |
| Depdc1b |
T |
C |
13: 108,500,177 (GRCm39) |
V230A |
probably damaging |
Het |
| Dnah10 |
G |
T |
5: 124,839,933 (GRCm39) |
|
probably null |
Het |
| Dsc2 |
A |
T |
18: 20,174,876 (GRCm39) |
D466E |
probably damaging |
Het |
| Dthd1 |
A |
G |
5: 62,984,411 (GRCm39) |
D372G |
probably damaging |
Het |
| Eeig2 |
A |
T |
3: 108,934,571 (GRCm39) |
F23I |
probably benign |
Het |
| Eogt |
G |
T |
6: 97,111,265 (GRCm39) |
Q199K |
probably benign |
Het |
| Epha6 |
C |
A |
16: 59,486,960 (GRCm39) |
R1029L |
possibly damaging |
Het |
| Eppin |
C |
A |
2: 164,431,243 (GRCm39) |
E128* |
probably null |
Het |
| Fgf20 |
T |
C |
8: 40,739,652 (GRCm39) |
R33G |
probably benign |
Het |
| Fgg |
A |
G |
3: 82,917,397 (GRCm39) |
N142S |
probably damaging |
Het |
| Fhip2a |
C |
A |
19: 57,359,619 (GRCm39) |
P53Q |
probably damaging |
Het |
| Gba1 |
C |
T |
3: 89,115,951 (GRCm39) |
|
probably null |
Het |
| Gli2 |
A |
G |
1: 118,765,241 (GRCm39) |
V970A |
probably damaging |
Het |
| Gramd1b |
A |
T |
9: 40,219,289 (GRCm39) |
V508D |
probably damaging |
Het |
| Gucy2c |
T |
A |
6: 136,685,319 (GRCm39) |
D898V |
probably damaging |
Het |
| Kcnj15 |
T |
C |
16: 95,096,653 (GRCm39) |
Y92H |
probably damaging |
Het |
| L3mbtl3 |
A |
T |
10: 26,158,693 (GRCm39) |
S652T |
unknown |
Het |
| Ldb2 |
G |
T |
5: 44,633,893 (GRCm39) |
Q326K |
probably benign |
Het |
| Lipi |
C |
A |
16: 75,357,689 (GRCm39) |
R292L |
probably benign |
Het |
| Lrrc36 |
G |
A |
8: 106,176,246 (GRCm39) |
V207I |
possibly damaging |
Het |
| Lyplal1 |
C |
T |
1: 185,820,949 (GRCm39) |
G166D |
probably benign |
Het |
| Map1b |
A |
T |
13: 99,566,810 (GRCm39) |
Y1970* |
probably null |
Het |
| Map2 |
A |
G |
1: 66,464,628 (GRCm39) |
N287D |
probably damaging |
Het |
| Map3k11 |
A |
T |
19: 5,747,498 (GRCm39) |
Q578L |
probably benign |
Het |
| Map3k11 |
G |
T |
19: 5,747,499 (GRCm39) |
Q578H |
probably damaging |
Het |
| Map4k4 |
G |
A |
1: 40,056,351 (GRCm39) |
S1012N |
probably benign |
Het |
| Mapk13 |
A |
T |
17: 28,988,426 (GRCm39) |
N15Y |
probably damaging |
Het |
| Mapk15 |
G |
A |
15: 75,867,759 (GRCm39) |
A125T |
probably damaging |
Het |
| Mrgprb1 |
C |
A |
7: 48,097,456 (GRCm39) |
R152L |
possibly damaging |
Het |
| Mtrex |
C |
A |
13: 113,058,273 (GRCm39) |
E53* |
probably null |
Het |
| Muc5ac |
T |
G |
7: 141,344,840 (GRCm39) |
Y104D |
possibly damaging |
Het |
| Myo1h |
A |
G |
5: 114,486,440 (GRCm39) |
N566S |
possibly damaging |
Het |
| Myo1h |
C |
A |
5: 114,489,737 (GRCm39) |
H647Q |
probably benign |
Het |
| Neo1 |
A |
G |
9: 58,796,324 (GRCm39) |
I1201T |
possibly damaging |
Het |
| Nlgn1 |
T |
C |
3: 25,490,186 (GRCm39) |
T514A |
probably benign |
Het |
| Or10al4 |
A |
G |
17: 38,037,587 (GRCm39) |
Y224C |
probably damaging |
Het |
| Or12j4 |
A |
T |
7: 140,046,981 (GRCm39) |
Y289F |
probably damaging |
Het |
| Or7a42 |
A |
G |
10: 78,791,899 (GRCm39) |
N287D |
probably damaging |
Het |
| Or8d4 |
T |
A |
9: 40,039,018 (GRCm39) |
K80* |
probably null |
Het |
| Orc2 |
A |
T |
1: 58,539,468 (GRCm39) |
L57* |
probably null |
Het |
| Otoa |
G |
A |
7: 120,744,791 (GRCm39) |
V850M |
probably damaging |
Het |
| Pcnx3 |
T |
C |
19: 5,717,247 (GRCm39) |
T1579A |
possibly damaging |
Het |
| Pde5a |
A |
T |
3: 122,616,742 (GRCm39) |
Y564F |
probably damaging |
Het |
| Pdxk |
A |
C |
10: 78,283,753 (GRCm39) |
I147S |
probably damaging |
Het |
| Pfdn5 |
A |
G |
15: 102,237,187 (GRCm39) |
D108G |
probably benign |
Het |
| Pink1 |
T |
C |
4: 138,044,621 (GRCm39) |
D342G |
probably damaging |
Het |
| Prkacb |
A |
T |
3: 146,443,753 (GRCm39) |
V336E |
probably damaging |
Het |
| Ptpro |
C |
A |
6: 137,393,834 (GRCm39) |
S13* |
probably null |
Het |
| Rfng |
A |
G |
11: 120,673,476 (GRCm39) |
L215P |
probably damaging |
Het |
| Rpn2 |
T |
C |
2: 157,144,345 (GRCm39) |
F336L |
possibly damaging |
Het |
| Sacs |
A |
G |
14: 61,449,246 (GRCm39) |
|
probably null |
Het |
| Sirpb1a |
T |
A |
3: 15,482,097 (GRCm39) |
Y77F |
probably benign |
Het |
| Slc30a8 |
A |
G |
15: 52,196,971 (GRCm39) |
D294G |
probably benign |
Het |
| Sox13 |
T |
C |
1: 133,316,672 (GRCm39) |
I212V |
probably benign |
Het |
| Srebf2 |
T |
A |
15: 82,069,549 (GRCm39) |
I657N |
possibly damaging |
Het |
| Srsf6 |
C |
A |
2: 162,775,629 (GRCm39) |
T146K |
probably benign |
Het |
| Strn4 |
T |
C |
7: 16,558,088 (GRCm39) |
V162A |
possibly damaging |
Het |
| Sulf2 |
T |
C |
2: 165,974,525 (GRCm39) |
D53G |
probably damaging |
Het |
| Tbc1d8 |
T |
A |
1: 39,411,789 (GRCm39) |
I1016F |
probably damaging |
Het |
| Tfrc |
G |
T |
16: 32,437,475 (GRCm39) |
A278S |
probably damaging |
Het |
| Tnrc6a |
T |
G |
7: 122,783,512 (GRCm39) |
|
probably null |
Het |
| Vmn1r83 |
T |
C |
7: 12,055,695 (GRCm39) |
I121V |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,858,225 (GRCm39) |
S2200G |
possibly damaging |
Het |
| Washc2 |
T |
A |
6: 116,206,230 (GRCm39) |
D397E |
probably damaging |
Het |
| Wipf3 |
T |
C |
6: 54,462,540 (GRCm39) |
L250P |
probably damaging |
Het |
| Xirp1 |
A |
G |
9: 119,848,748 (GRCm39) |
F45S |
probably damaging |
Het |
| Xpo5 |
A |
G |
17: 46,547,889 (GRCm39) |
T910A |
probably benign |
Het |
| Zfp235 |
T |
C |
7: 23,841,101 (GRCm39) |
Y507H |
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 |
|
|
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 |
|
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'- GCAGTATTGAACAACCACTACTTC -3'
(R):5'- TAAGCAGGGCCTGTACATGC -3'
Sequencing Primer
(F):5'- CTCACTGTGTAAGCACTAGTAGC -3'
(R):5'- TACATGCTCGAGGGCTAGCAAC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation