Incidental Mutation 'R1748:Depdc5'
ID |
194109 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Depdc5
|
Ensembl Gene |
ENSMUSG00000037426 |
Gene Name |
DEP domain containing 5 |
Synonyms |
|
MMRRC Submission |
039780-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1748 (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 G
at 33075286 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 488
(E488G)
|
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: E488G
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000052807 Gene: ENSMUSG00000037426 AA Change: E488G
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: E488G
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000085207 Gene: ENSMUSG00000037426 AA Change: E488G
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: ENSMUST00000119705
AA Change: E488G
PolyPhen 2
Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000113862 Gene: ENSMUSG00000037426 AA Change: E488G
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: E488G
PolyPhen 2
Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000113980 Gene: ENSMUSG00000037426 AA Change: E488G
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: ENSMUST00000158455
|
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
|
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.8%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
G |
T |
16: 20,152,338 (GRCm39) |
Q1403K |
probably benign |
Het |
Adamts12 |
G |
A |
15: 11,241,548 (GRCm39) |
M373I |
probably damaging |
Het |
Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
Aire |
T |
C |
10: 77,879,314 (GRCm39) |
H15R |
probably damaging |
Het |
Aldh3b2 |
T |
C |
19: 4,027,572 (GRCm39) |
F38L |
probably damaging |
Het |
Alk |
A |
C |
17: 72,910,416 (GRCm39) |
C97G |
probably benign |
Het |
Ano8 |
T |
C |
8: 71,931,602 (GRCm39) |
|
probably benign |
Het |
Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
Arsk |
T |
A |
13: 76,210,529 (GRCm39) |
H506L |
probably benign |
Het |
Asgr2 |
G |
T |
11: 69,987,658 (GRCm39) |
R52L |
probably damaging |
Het |
Atp2a1 |
A |
G |
7: 126,058,780 (GRCm39) |
I145T |
possibly damaging |
Het |
Atrnl1 |
A |
G |
19: 57,703,134 (GRCm39) |
T1051A |
probably damaging |
Het |
Cacna1e |
A |
T |
1: 154,362,315 (GRCm39) |
V424D |
possibly damaging |
Het |
Capn3 |
T |
C |
2: 120,327,494 (GRCm39) |
V574A |
probably benign |
Het |
Capzb |
C |
A |
4: 138,984,679 (GRCm39) |
D67E |
probably damaging |
Het |
Ccdc68 |
A |
T |
18: 70,089,062 (GRCm39) |
T202S |
probably benign |
Het |
Ccser2 |
T |
C |
14: 36,618,270 (GRCm39) |
K123R |
probably damaging |
Het |
Ccser2 |
T |
A |
14: 36,618,271 (GRCm39) |
K123* |
probably null |
Het |
Ces2h |
T |
C |
8: 105,744,473 (GRCm39) |
I316T |
probably benign |
Het |
Chd3 |
T |
G |
11: 69,255,523 (GRCm39) |
K122Q |
possibly damaging |
Het |
Col12a1 |
T |
C |
9: 79,580,279 (GRCm39) |
T1533A |
probably benign |
Het |
Cr2 |
T |
A |
1: 194,838,213 (GRCm39) |
K1084* |
probably null |
Het |
Ddx28 |
A |
G |
8: 106,737,314 (GRCm39) |
L248P |
probably benign |
Het |
Dld |
T |
C |
12: 31,384,745 (GRCm39) |
T305A |
probably benign |
Het |
Dok5 |
T |
A |
2: 170,683,373 (GRCm39) |
F211L |
probably damaging |
Het |
Duox2 |
T |
C |
2: 122,117,532 (GRCm39) |
D934G |
probably benign |
Het |
Eif3a |
G |
A |
19: 60,755,236 (GRCm39) |
T982I |
unknown |
Het |
Erbb2 |
G |
T |
11: 98,326,161 (GRCm39) |
R979L |
probably benign |
Het |
Espl1 |
G |
T |
15: 102,206,964 (GRCm39) |
V143L |
possibly damaging |
Het |
Fanci |
T |
C |
7: 79,080,236 (GRCm39) |
L598P |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,147,473 (GRCm39) |
E3923V |
probably damaging |
Het |
Fhod3 |
A |
T |
18: 24,903,550 (GRCm39) |
K95* |
probably null |
Het |
Gpr108 |
G |
T |
17: 57,543,217 (GRCm39) |
T484K |
probably damaging |
Het |
Hao1 |
T |
A |
2: 134,340,238 (GRCm39) |
N351I |
possibly damaging |
Het |
Hepacam |
A |
T |
9: 37,295,189 (GRCm39) |
N308I |
possibly damaging |
Het |
Herc2 |
T |
C |
7: 55,798,571 (GRCm39) |
|
probably null |
Het |
Hltf |
T |
C |
3: 20,130,685 (GRCm39) |
I301T |
probably benign |
Het |
Igsf10 |
A |
T |
3: 59,226,514 (GRCm39) |
N2386K |
probably damaging |
Het |
Ikbke |
G |
T |
1: 131,186,937 (GRCm39) |
T585K |
probably benign |
Het |
Iqgap3 |
A |
G |
3: 88,021,287 (GRCm39) |
T448A |
possibly damaging |
Het |
Kl |
T |
C |
5: 150,904,450 (GRCm39) |
S401P |
possibly damaging |
Het |
Lama4 |
T |
C |
10: 38,941,615 (GRCm39) |
V684A |
probably benign |
Het |
Lgals8 |
A |
T |
13: 12,469,824 (GRCm39) |
F45Y |
probably damaging |
Het |
Lgalsl |
G |
A |
11: 20,776,491 (GRCm39) |
R134C |
probably benign |
Het |
Lmcd1 |
T |
C |
6: 112,306,875 (GRCm39) |
V349A |
probably benign |
Het |
Lrp1b |
T |
A |
2: 41,618,718 (GRCm39) |
N119Y |
possibly damaging |
Het |
Lrrc73 |
T |
A |
17: 46,566,621 (GRCm39) |
I157N |
probably damaging |
Het |
Map3k8 |
A |
G |
18: 4,334,766 (GRCm39) |
Y293H |
probably damaging |
Het |
Mybphl |
A |
T |
3: 108,282,400 (GRCm39) |
|
probably null |
Het |
Naa12 |
T |
C |
18: 80,255,161 (GRCm39) |
S152P |
probably benign |
Het |
Ndrg1 |
A |
G |
15: 66,802,930 (GRCm39) |
M140T |
possibly damaging |
Het |
Or2n1e |
T |
A |
17: 38,585,997 (GRCm39) |
C112S |
possibly damaging |
Het |
Or8b38 |
A |
G |
9: 37,972,796 (GRCm39) |
Y60C |
probably damaging |
Het |
Pbx2 |
T |
C |
17: 34,812,951 (GRCm39) |
S76P |
possibly damaging |
Het |
Plcl2 |
T |
A |
17: 50,913,826 (GRCm39) |
S278R |
probably benign |
Het |
Polr3d |
A |
T |
14: 70,676,915 (GRCm39) |
L393* |
probably null |
Het |
Prmt6 |
T |
C |
3: 110,157,683 (GRCm39) |
Q202R |
probably benign |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Sag |
T |
A |
1: 87,759,662 (GRCm39) |
I300N |
probably damaging |
Het |
Sap25 |
T |
A |
5: 137,640,180 (GRCm39) |
|
probably null |
Het |
Scarb2 |
A |
G |
5: 92,608,695 (GRCm39) |
L177P |
probably damaging |
Het |
Sh3pxd2b |
A |
T |
11: 32,372,203 (GRCm39) |
N457Y |
possibly damaging |
Het |
Siae |
T |
A |
9: 37,542,902 (GRCm39) |
|
probably null |
Het |
Slc36a1 |
T |
C |
11: 55,119,150 (GRCm39) |
L375P |
probably damaging |
Het |
Smg8 |
A |
G |
11: 86,976,594 (GRCm39) |
V329A |
probably damaging |
Het |
Tas2r113 |
A |
T |
6: 132,870,695 (GRCm39) |
Y241F |
probably damaging |
Het |
Tm9sf3 |
T |
G |
19: 41,244,668 (GRCm39) |
S70R |
probably benign |
Het |
Tmem144 |
C |
T |
3: 79,732,594 (GRCm39) |
S228N |
probably damaging |
Het |
Tmem45a |
C |
A |
16: 56,642,701 (GRCm39) |
V157F |
possibly damaging |
Het |
Tpbg |
G |
T |
9: 85,726,429 (GRCm39) |
V133L |
probably damaging |
Het |
Trpv3 |
G |
A |
11: 73,186,209 (GRCm39) |
V667I |
possibly damaging |
Het |
Ube2c |
T |
C |
2: 164,613,241 (GRCm39) |
F53S |
probably damaging |
Het |
Vmn1r78 |
T |
A |
7: 11,887,250 (GRCm39) |
V287D |
probably damaging |
Het |
Vmn2r114 |
T |
A |
17: 23,527,035 (GRCm39) |
D499V |
probably benign |
Het |
Zpld2 |
C |
G |
4: 133,927,610 (GRCm39) |
C381S |
probably damaging |
Het |
Zpld2 |
T |
A |
4: 133,929,430 (GRCm39) |
T292S |
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 |
|
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 |
|
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'- AGCATTATTGCCCACATCTGGGAG -3'
(R):5'- ATGTATGCCCCATGCCCATCAC -3'
Sequencing Primer
(F):5'- GCCCACATCTGGGAGTTTTG -3'
(R):5'- AGTGAGCTGCTGACTTCATAC -3'
|
Posted On |
2014-05-23 |