Incidental Mutation 'R5594:Depdc5'
| ID |
437687 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Depdc5
|
| Ensembl Gene |
ENSMUSG00000037426 |
| Gene Name |
DEP domain containing 5 |
| Synonyms |
|
| MMRRC Submission |
043146-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5594 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
32863701-32994236 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32901490 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 268
(T268A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113980
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049780]
[ENSMUST00000087897]
[ENSMUST00000119705]
[ENSMUST00000120902]
[ENSMUST00000195980]
|
| AlphaFold |
P61460 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049780
AA Change: T268A
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000052807
Gene: ENSMUSG00000037426
AA Change: T268A
| 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 benign
Transcript: ENSMUST00000087897
AA Change: T268A
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000085207
Gene: ENSMUSG00000037426
AA Change: T268A
| 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 |
possibly damaging
Transcript: ENSMUST00000119705
AA Change: T268A
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113862
Gene: ENSMUSG00000037426
AA Change: T268A
| 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 |
possibly damaging
Transcript: ENSMUST00000120902
AA Change: T268A
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113980
Gene: ENSMUSG00000037426
AA Change: T268A
| 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 |
noncoding transcript
Transcript: ENSMUST00000201802
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201836
|
| Meta Mutation Damage Score |
0.1276 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.4%
|
| Validation Efficiency |
100% (80/80) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930556J24Rik |
C |
T |
11: 3,938,027 (GRCm38) |
V120I |
unknown |
Het |
| 4931414P19Rik |
A |
G |
14: 54,584,984 (GRCm38) |
Y399H |
probably damaging |
Het |
| 5430419D17Rik |
T |
A |
7: 131,239,523 (GRCm38) |
D647E |
probably benign |
Het |
| 6430573F11Rik |
A |
G |
8: 36,512,298 (GRCm38) |
T352A |
probably benign |
Het |
| Abca9 |
G |
T |
11: 110,144,862 (GRCm38) |
P644Q |
probably damaging |
Het |
| Acly |
T |
C |
11: 100,522,120 (GRCm38) |
|
probably null |
Het |
| Adamts14 |
A |
T |
10: 61,227,101 (GRCm38) |
|
probably null |
Het |
| Ankdd1a |
T |
C |
9: 65,502,241 (GRCm38) |
N471S |
probably damaging |
Het |
| Ankrd39 |
C |
T |
1: 36,541,981 (GRCm38) |
G96R |
probably damaging |
Het |
| Arhgef28 |
T |
C |
13: 97,939,492 (GRCm38) |
T1345A |
probably benign |
Het |
| Arhgef40 |
T |
A |
14: 51,996,157 (GRCm38) |
L820H |
probably damaging |
Het |
| Atp2b4 |
A |
G |
1: 133,730,510 (GRCm38) |
V554A |
probably damaging |
Het |
| Birc7 |
G |
A |
2: 180,933,336 (GRCm38) |
|
probably null |
Het |
| Ccdc80 |
C |
T |
16: 45,116,263 (GRCm38) |
R684C |
probably benign |
Het |
| Cdc25b |
C |
A |
2: 131,191,618 (GRCm38) |
P159Q |
probably damaging |
Het |
| Chek2 |
G |
T |
5: 110,855,834 (GRCm38) |
|
probably null |
Het |
| Chil6 |
C |
T |
3: 106,394,429 (GRCm38) |
|
probably null |
Het |
| Cr2 |
A |
G |
1: 195,157,190 (GRCm38) |
I643T |
probably damaging |
Het |
| Cwf19l2 |
C |
A |
9: 3,418,773 (GRCm38) |
Q187K |
probably benign |
Het |
| Cyth4 |
A |
G |
15: 78,607,075 (GRCm38) |
|
probably null |
Het |
| Dnah17 |
G |
T |
11: 118,043,229 (GRCm38) |
|
probably null |
Het |
| Dnah3 |
T |
C |
7: 119,971,621 (GRCm38) |
Y2210C |
possibly damaging |
Het |
| Elmod3 |
G |
A |
6: 72,594,816 (GRCm38) |
|
probably benign |
Het |
| Eogt |
T |
A |
6: 97,116,035 (GRCm38) |
T394S |
probably benign |
Het |
| Evi5 |
A |
G |
5: 107,820,451 (GRCm38) |
V182A |
possibly damaging |
Het |
| Fbxo30 |
T |
C |
10: 11,290,479 (GRCm38) |
I315T |
probably benign |
Het |
| Fibcd1 |
T |
C |
2: 31,838,617 (GRCm38) |
N76S |
probably damaging |
Het |
| Gcc2 |
G |
T |
10: 58,287,242 (GRCm38) |
R1190M |
probably damaging |
Het |
| Gfm2 |
T |
C |
13: 97,165,038 (GRCm38) |
S450P |
probably damaging |
Het |
| Glg1 |
G |
A |
8: 111,187,881 (GRCm38) |
R424C |
probably damaging |
Het |
| Gm11543 |
T |
A |
11: 94,828,554 (GRCm38) |
|
noncoding transcript |
Het |
| Gm7102 |
C |
T |
19: 61,175,926 (GRCm38) |
G24R |
unknown |
Het |
| Hhip |
G |
T |
8: 79,996,863 (GRCm38) |
D387E |
probably damaging |
Het |
| Hif1a |
T |
A |
12: 73,937,792 (GRCm38) |
Y46* |
probably null |
Het |
| Hivep3 |
G |
T |
4: 120,123,048 (GRCm38) |
|
probably null |
Het |
| Kif13a |
T |
A |
13: 46,752,862 (GRCm38) |
E535V |
probably damaging |
Het |
| Lrch3 |
T |
C |
16: 32,914,184 (GRCm38) |
Y15H |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,759,397 (GRCm38) |
V3560E |
probably benign |
Het |
| Lyst |
T |
G |
13: 13,743,333 (GRCm38) |
I3326S |
probably damaging |
Het |
| Megf11 |
T |
C |
9: 64,686,473 (GRCm38) |
F613L |
probably damaging |
Het |
| Misp |
G |
A |
10: 79,827,143 (GRCm38) |
V465M |
probably damaging |
Het |
| Ms4a6c |
T |
A |
19: 11,478,173 (GRCm38) |
D115E |
probably benign |
Het |
| Msh6 |
A |
G |
17: 87,986,069 (GRCm38) |
T751A |
probably benign |
Het |
| Ntrk3 |
T |
A |
7: 78,451,899 (GRCm38) |
T429S |
probably benign |
Het |
| Olfr128 |
T |
A |
17: 37,923,611 (GRCm38) |
M15K |
probably benign |
Het |
| Olfr857 |
T |
C |
9: 19,713,006 (GRCm38) |
Y60H |
probably damaging |
Het |
| Oplah |
A |
C |
15: 76,296,637 (GRCm38) |
*1289G |
probably null |
Het |
| Otx1 |
C |
A |
11: 21,997,037 (GRCm38) |
A91S |
probably damaging |
Het |
| Pcdhga6 |
A |
T |
18: 37,708,528 (GRCm38) |
T434S |
probably benign |
Het |
| Pign |
A |
G |
1: 105,646,869 (GRCm38) |
|
probably benign |
Het |
| Poteg |
A |
T |
8: 27,447,968 (GRCm38) |
I51F |
probably benign |
Het |
| Prrc2c |
C |
A |
1: 162,699,031 (GRCm38) |
V204F |
unknown |
Het |
| Rhbdd3 |
T |
C |
11: 5,105,710 (GRCm38) |
S325P |
probably damaging |
Het |
| Rit1 |
T |
A |
3: 88,729,137 (GRCm38) |
L116Q |
probably damaging |
Het |
| Rpl22 |
T |
A |
4: 152,325,802 (GRCm38) |
|
probably benign |
Het |
| Rttn |
A |
G |
18: 89,090,436 (GRCm38) |
E1588G |
possibly damaging |
Het |
| Sardh |
A |
G |
2: 27,220,723 (GRCm38) |
F577S |
probably damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,785,139 (GRCm38) |
D105E |
probably benign |
Het |
| Slc22a23 |
T |
A |
13: 34,305,257 (GRCm38) |
D215V |
probably damaging |
Het |
| Slc4a8 |
C |
A |
15: 100,795,887 (GRCm38) |
P438T |
probably damaging |
Het |
| Sntb1 |
C |
G |
15: 55,642,795 (GRCm38) |
G461R |
probably damaging |
Het |
| Stk19 |
C |
T |
17: 34,820,562 (GRCm38) |
|
probably benign |
Het |
| Stx5a |
T |
C |
19: 8,748,465 (GRCm38) |
I143T |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 50,829,882 (GRCm38) |
H2232R |
possibly damaging |
Het |
| Ttc21b |
A |
G |
2: 66,236,235 (GRCm38) |
I358T |
probably benign |
Het |
| Tuba8 |
A |
G |
6: 121,225,904 (GRCm38) |
D392G |
possibly damaging |
Het |
| Vmn1r1 |
G |
A |
1: 182,157,407 (GRCm38) |
P231L |
probably damaging |
Het |
| Zfp330 |
A |
G |
8: 82,767,312 (GRCm38) |
W107R |
probably damaging |
Het |
| Zfp715 |
T |
A |
7: 43,299,692 (GRCm38) |
Q281H |
possibly damaging |
Het |
| Zfp9 |
T |
C |
6: 118,465,039 (GRCm38) |
T221A |
probably damaging |
Het |
| Zgpat |
T |
C |
2: 181,365,627 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Depdc5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00861:Depdc5
|
APN |
5 |
32,967,814 (GRCm38) |
splice site |
probably null |
|
|
IGL01019:Depdc5
|
APN |
5 |
32,893,401 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01067:Depdc5
|
APN |
5 |
32,899,067 (GRCm38) |
splice site |
probably null |
|
|
IGL01405:Depdc5
|
APN |
5 |
32,937,689 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL01577:Depdc5
|
APN |
5 |
32,955,897 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
IGL01633:Depdc5
|
APN |
5 |
32,924,200 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01998:Depdc5
|
APN |
5 |
32,945,151 (GRCm38) |
splice site |
probably benign |
|
|
IGL02025:Depdc5
|
APN |
5 |
32,946,632 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL02167:Depdc5
|
APN |
5 |
32,903,801 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02537:Depdc5
|
APN |
5 |
32,967,787 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02812:Depdc5
|
APN |
5 |
32,893,368 (GRCm38) |
splice site |
probably benign |
|
|
IGL03001:Depdc5
|
APN |
5 |
32,945,090 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
IGL03253:Depdc5
|
APN |
5 |
32,868,813 (GRCm38) |
unclassified |
probably benign |
|
|
alligator
|
UTSW |
5 |
32,964,507 (GRCm38) |
splice site |
probably null |
|
|
lagarto
|
UTSW |
5 |
32,979,508 (GRCm38) |
missense |
probably damaging |
1.00 |
|
sauros
|
UTSW |
5 |
32,986,966 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02988:Depdc5
|
UTSW |
5 |
32,956,167 (GRCm38) |
splice site |
probably null |
|
|
R0038:Depdc5
|
UTSW |
5 |
32,868,853 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0038:Depdc5
|
UTSW |
5 |
32,868,853 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0153:Depdc5
|
UTSW |
5 |
32,933,937 (GRCm38) |
splice site |
probably benign |
|
|
R0179:Depdc5
|
UTSW |
5 |
32,901,574 (GRCm38) |
unclassified |
probably benign |
|
|
R0212:Depdc5
|
UTSW |
5 |
32,912,242 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0239:Depdc5
|
UTSW |
5 |
32,943,240 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0239:Depdc5
|
UTSW |
5 |
32,943,240 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0302:Depdc5
|
UTSW |
5 |
32,904,546 (GRCm38) |
critical splice donor site |
probably benign |
|
|
R0511:Depdc5
|
UTSW |
5 |
32,945,028 (GRCm38) |
nonsense |
probably null |
|
|
R0677:Depdc5
|
UTSW |
5 |
32,901,470 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0884:Depdc5
|
UTSW |
5 |
32,917,978 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0973:Depdc5
|
UTSW |
5 |
32,986,966 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1314:Depdc5
|
UTSW |
5 |
32,877,074 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1611:Depdc5
|
UTSW |
5 |
32,990,953 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1687:Depdc5
|
UTSW |
5 |
32,910,407 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
R1748:Depdc5
|
UTSW |
5 |
32,917,942 (GRCm38) |
missense |
probably benign |
0.24 |
|
R1903:Depdc5
|
UTSW |
5 |
32,910,407 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
R1956:Depdc5
|
UTSW |
5 |
32,903,831 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1997:Depdc5
|
UTSW |
5 |
32,901,906 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2079:Depdc5
|
UTSW |
5 |
32,946,674 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R2131:Depdc5
|
UTSW |
5 |
32,990,781 (GRCm38) |
nonsense |
probably null |
|
|
R2291:Depdc5
|
UTSW |
5 |
32,979,402 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2422:Depdc5
|
UTSW |
5 |
32,991,035 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2851:Depdc5
|
UTSW |
5 |
32,924,171 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2852:Depdc5
|
UTSW |
5 |
32,924,171 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2937:Depdc5
|
UTSW |
5 |
32,901,621 (GRCm38) |
splice site |
probably null |
|
|
R2938:Depdc5
|
UTSW |
5 |
32,901,621 (GRCm38) |
splice site |
probably null |
|
|
R2974:Depdc5
|
UTSW |
5 |
32,934,017 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3884:Depdc5
|
UTSW |
5 |
32,944,077 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3967:Depdc5
|
UTSW |
5 |
32,944,115 (GRCm38) |
nonsense |
probably null |
|
|
R4118:Depdc5
|
UTSW |
5 |
32,964,635 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4197:Depdc5
|
UTSW |
5 |
32,991,203 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4407:Depdc5
|
UTSW |
5 |
32,904,534 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4534:Depdc5
|
UTSW |
5 |
32,910,407 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
R4535:Depdc5
|
UTSW |
5 |
32,910,407 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
R4538:Depdc5
|
UTSW |
5 |
32,983,946 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4613:Depdc5
|
UTSW |
5 |
32,975,446 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4736:Depdc5
|
UTSW |
5 |
32,975,322 (GRCm38) |
missense |
probably benign |
|
|
R4738:Depdc5
|
UTSW |
5 |
32,975,322 (GRCm38) |
missense |
probably benign |
|
|
R4765:Depdc5
|
UTSW |
5 |
32,937,635 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5021:Depdc5
|
UTSW |
5 |
32,979,414 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5259:Depdc5
|
UTSW |
5 |
32,938,291 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5261:Depdc5
|
UTSW |
5 |
32,938,291 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5541:Depdc5
|
UTSW |
5 |
32,864,629 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R5929:Depdc5
|
UTSW |
5 |
32,975,506 (GRCm38) |
nonsense |
probably null |
|
|
R6132:Depdc5
|
UTSW |
5 |
32,910,467 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6146:Depdc5
|
UTSW |
5 |
32,968,731 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6336:Depdc5
|
UTSW |
5 |
32,964,507 (GRCm38) |
splice site |
probably null |
|
|
R6468:Depdc5
|
UTSW |
5 |
32,912,231 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6911:Depdc5
|
UTSW |
5 |
32,924,192 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6969:Depdc5
|
UTSW |
5 |
32,983,860 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7002:Depdc5
|
UTSW |
5 |
32,877,158 (GRCm38) |
splice site |
probably null |
|
|
R7066:Depdc5
|
UTSW |
5 |
32,901,848 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7231:Depdc5
|
UTSW |
5 |
32,901,865 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7264:Depdc5
|
UTSW |
5 |
32,967,745 (GRCm38) |
missense |
probably benign |
|
|
R7302:Depdc5
|
UTSW |
5 |
32,979,508 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7386:Depdc5
|
UTSW |
5 |
32,927,936 (GRCm38) |
missense |
probably benign |
|
|
R7564:Depdc5
|
UTSW |
5 |
32,901,510 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7636:Depdc5
|
UTSW |
5 |
32,917,983 (GRCm38) |
missense |
probably benign |
|
|
R7795:Depdc5
|
UTSW |
5 |
32,944,103 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7845:Depdc5
|
UTSW |
5 |
32,903,915 (GRCm38) |
splice site |
probably null |
|
|
R8013:Depdc5
|
UTSW |
5 |
32,973,842 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8037:Depdc5
|
UTSW |
5 |
32,959,348 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8038:Depdc5
|
UTSW |
5 |
32,959,348 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8065:Depdc5
|
UTSW |
5 |
32,895,908 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R8067:Depdc5
|
UTSW |
5 |
32,895,908 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R8108:Depdc5
|
UTSW |
5 |
32,945,049 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8112:Depdc5
|
UTSW |
5 |
32,968,706 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R8213:Depdc5
|
UTSW |
5 |
32,937,637 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8382:Depdc5
|
UTSW |
5 |
32,927,898 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8680:Depdc5
|
UTSW |
5 |
32,944,038 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R8743:Depdc5
|
UTSW |
5 |
32,924,243 (GRCm38) |
missense |
probably benign |
0.10 |
|
R8754:Depdc5
|
UTSW |
5 |
32,979,537 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9157:Depdc5
|
UTSW |
5 |
32,945,108 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9364:Depdc5
|
UTSW |
5 |
32,964,732 (GRCm38) |
missense |
probably benign |
|
|
R9441:Depdc5
|
UTSW |
5 |
32,937,698 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9450:Depdc5
|
UTSW |
5 |
32,934,010 (GRCm38) |
missense |
probably benign |
|
|
R9459:Depdc5
|
UTSW |
5 |
32,990,773 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9554:Depdc5
|
UTSW |
5 |
32,964,732 (GRCm38) |
missense |
probably benign |
|
|
R9569:Depdc5
|
UTSW |
5 |
32,867,977 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9647:Depdc5
|
UTSW |
5 |
32,924,223 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9688:Depdc5
|
UTSW |
5 |
32,897,932 (GRCm38) |
nonsense |
probably null |
|
|
X0027:Depdc5
|
UTSW |
5 |
32,904,292 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Depdc5
|
UTSW |
5 |
32,943,282 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTAGGCATGCTCATCTCC -3'
(R):5'- ATCTCTTGGAAACTACCAGGAAGG -3'
Sequencing Primer
(F):5'- GGTAGGCATGCTCATCTCCTCATC -3'
(R):5'- GTGGAGGCTCACACTTTTAATCTCAG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation