Incidental Mutation 'R0038:Depdc5'
| ID |
32803 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Depdc5
|
| Ensembl Gene |
ENSMUSG00000037426 |
| Gene Name |
DEP domain containing 5 |
| Synonyms |
|
| MMRRC Submission |
038332-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0038 (G1)
|
| Quality Score |
190 |
|
Status
|
Validated
(trace)
|
| Chromosome |
5 |
| Chromosomal Location |
32863701-32994236 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32868853 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 60
(E60G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049780]
[ENSMUST00000087897]
[ENSMUST00000118698]
[ENSMUST00000119705]
[ENSMUST00000120902]
[ENSMUST00000125574]
[ENSMUST00000149350]
[ENSMUST00000150130]
[ENSMUST00000195980]
[ENSMUST00000202927]
|
| AlphaFold |
P61460 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049780
AA Change: E60G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000052807
Gene: ENSMUSG00000037426
AA Change: E60G
| 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: E60G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000085207
Gene: ENSMUSG00000037426
AA Change: E60G
| 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 benign
Transcript: ENSMUST00000118698
AA Change: E60G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000112906
Gene: ENSMUSG00000037426
AA Change: E60G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3608
|
100 |
205 |
1.9e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119705
AA Change: E60G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000113862
Gene: ENSMUSG00000037426
AA Change: E60G
| 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 benign
Transcript: ENSMUST00000120902
AA Change: E60G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000113980
Gene: ENSMUSG00000037426
AA Change: E60G
| 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: ENSMUST00000125574
AA Change: E60G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000122173
Gene: ENSMUSG00000037426
AA Change: E60G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3608
|
100 |
137 |
6.9e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139098
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139463
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149350
AA Change: E60G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122461
Gene: ENSMUSG00000037426
AA Change: E60G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3608
|
100 |
161 |
1.5e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150130
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195980
AA Change: E60G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000143228
Gene: ENSMUSG00000037426
AA Change: E60G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3608
|
100 |
147 |
4e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201802
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202927
|
| Meta Mutation Damage Score |
0.1023 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
100% (72/72) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agfg1 |
T |
C |
1: 82,886,102 (GRCm38) |
|
probably benign |
Het |
| Ankrd28 |
A |
T |
14: 31,708,035 (GRCm38) |
M892K |
probably damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,186,865 (GRCm38) |
|
probably benign |
Het |
| Arl9 |
G |
A |
5: 77,006,475 (GRCm38) |
E17K |
probably benign |
Het |
| Bbs9 |
G |
A |
9: 22,504,094 (GRCm38) |
V105I |
probably benign |
Het |
| Celsr1 |
A |
T |
15: 85,929,419 (GRCm38) |
N1997K |
possibly damaging |
Het |
| Cic |
C |
A |
7: 25,287,141 (GRCm38) |
S1299Y |
probably damaging |
Het |
| Cic |
T |
A |
7: 25,287,140 (GRCm38) |
S1299T |
probably damaging |
Het |
| Cldn8 |
A |
G |
16: 88,563,034 (GRCm38) |
M1T |
probably null |
Het |
| Clec11a |
A |
G |
7: 44,306,482 (GRCm38) |
|
probably benign |
Het |
| Clstn1 |
G |
A |
4: 149,634,796 (GRCm38) |
V361M |
probably damaging |
Het |
| Col19a1 |
A |
T |
1: 24,559,744 (GRCm38) |
L56Q |
unknown |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm38) |
|
probably benign |
Het |
| Cyp2b10 |
G |
A |
7: 25,914,862 (GRCm38) |
A254T |
probably benign |
Het |
| Ddx39a |
T |
C |
8: 83,722,498 (GRCm38) |
L305P |
probably damaging |
Het |
| Eif2ak2 |
T |
A |
17: 78,863,955 (GRCm38) |
M340L |
probably benign |
Het |
| Etl4 |
A |
T |
2: 20,743,574 (GRCm38) |
H39L |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,915,010 (GRCm38) |
T4549A |
probably damaging |
Het |
| Fbxw28 |
A |
T |
9: 109,338,540 (GRCm38) |
W50R |
probably damaging |
Het |
| Ggt7 |
T |
C |
2: 155,502,781 (GRCm38) |
D214G |
probably benign |
Het |
| Gramd1b |
G |
A |
9: 40,317,526 (GRCm38) |
T252M |
probably damaging |
Het |
| Grin1 |
T |
C |
2: 25,297,459 (GRCm38) |
N613S |
probably null |
Het |
| Hcrtr2 |
A |
T |
9: 76,259,681 (GRCm38) |
S125T |
probably benign |
Het |
| Hr |
T |
C |
14: 70,568,085 (GRCm38) |
L1091P |
probably damaging |
Het |
| Htr2a |
T |
G |
14: 74,706,247 (GRCm38) |
S422R |
probably benign |
Het |
| Ighmbp2 |
A |
G |
19: 3,262,097 (GRCm38) |
S886P |
probably damaging |
Het |
| Iqcg |
C |
A |
16: 33,045,642 (GRCm38) |
L110F |
probably benign |
Het |
| Kirrel3 |
T |
A |
9: 34,911,770 (GRCm38) |
|
probably null |
Het |
| Kremen1 |
A |
C |
11: 5,207,703 (GRCm38) |
|
probably benign |
Het |
| Lama2 |
T |
C |
10: 26,986,797 (GRCm38) |
D2990G |
probably benign |
Het |
| Lin52 |
C |
G |
12: 84,529,725 (GRCm38) |
L111V |
probably damaging |
Het |
| Myh15 |
T |
C |
16: 49,071,141 (GRCm38) |
|
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,392,551 (GRCm38) |
F437L |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,172,171 (GRCm38) |
S685P |
possibly damaging |
Het |
| Oog4 |
T |
C |
4: 143,438,944 (GRCm38) |
D211G |
probably benign |
Het |
| Oscar |
A |
G |
7: 3,616,073 (GRCm38) |
V2A |
probably benign |
Het |
| Pdzd8 |
A |
G |
19: 59,299,596 (GRCm38) |
I1124T |
possibly damaging |
Het |
| Pgm3 |
A |
T |
9: 86,564,673 (GRCm38) |
|
probably benign |
Het |
| Pnpla5 |
A |
G |
15: 84,122,513 (GRCm38) |
Y90H |
probably damaging |
Het |
| Polr1b |
C |
T |
2: 129,115,668 (GRCm38) |
R548* |
probably null |
Het |
| Ptprg |
T |
A |
14: 12,213,710 (GRCm38) |
M1026K |
probably damaging |
Het |
| Rab5b |
C |
T |
10: 128,682,903 (GRCm38) |
R120Q |
probably benign |
Het |
| Rapgef2 |
T |
C |
3: 79,069,396 (GRCm38) |
I1368V |
probably benign |
Het |
| Rnf168 |
T |
C |
16: 32,298,995 (GRCm38) |
V458A |
probably benign |
Het |
| Rnf32 |
T |
C |
5: 29,205,654 (GRCm38) |
|
probably benign |
Het |
| Sclt1 |
T |
C |
3: 41,629,508 (GRCm38) |
|
probably benign |
Het |
| Serpina12 |
A |
G |
12: 104,037,957 (GRCm38) |
F139L |
probably damaging |
Het |
| Sos2 |
T |
G |
12: 69,596,693 (GRCm38) |
Q971P |
probably damaging |
Het |
| Stag3 |
T |
A |
5: 138,301,036 (GRCm38) |
|
probably null |
Het |
| Stard5 |
T |
C |
7: 83,636,743 (GRCm38) |
|
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,695,832 (GRCm38) |
C857S |
probably benign |
Het |
| Suclg1 |
A |
G |
6: 73,260,503 (GRCm38) |
E77G |
probably benign |
Het |
| Trpm7 |
A |
G |
2: 126,795,468 (GRCm38) |
S204P |
probably damaging |
Het |
| Ush2a |
G |
T |
1: 188,626,612 (GRCm38) |
G2112C |
probably benign |
Het |
| Vmn2r15 |
T |
A |
5: 109,293,144 (GRCm38) |
T283S |
possibly damaging |
Het |
| Wdr6 |
A |
T |
9: 108,572,969 (GRCm38) |
V1120D |
probably damaging |
Het |
| Zfp644 |
T |
G |
5: 106,635,043 (GRCm38) |
E1155A |
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 |
|
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 |
|
|
R5594:Depdc5
|
UTSW |
5 |
32,901,490 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
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'- CATTTGCTTCCAGGCCAAGTGC -3'
(R):5'- GGTATGTGGGAAGATTGCAGCTCAG -3'
Sequencing Primer
(F):5'- CAGGCCAAGTGCAGTTTTC -3'
(R):5'- GTAAACGCATCAACTATTGCTCCTG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation