Incidental Mutation 'R2422:Depdc5'
| ID |
249361 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Depdc5
|
| Ensembl Gene |
ENSMUSG00000037426 |
| Gene Name |
DEP domain containing 5 |
| Synonyms |
|
| MMRRC Submission |
040384-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2422 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
33021045-33151580 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33148379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 1505
(F1505S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113980
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087897]
[ENSMUST00000119705]
[ENSMUST00000120902]
[ENSMUST00000124780]
|
| AlphaFold |
P61460 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087897
AA Change: S1516P
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000085207
Gene: ENSMUSG00000037426
AA Change: S1516P
| 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: F1527S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113862
Gene: ENSMUSG00000037426
AA Change: F1527S
| 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: F1505S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113980
Gene: ENSMUSG00000037426
AA Change: F1505S
| 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
|
| SMART Domains |
Protein: ENSMUSP00000120120
Gene: ENSMUSG00000037426
| 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: F911S
|
| SMART Domains |
Protein: ENSMUSP00000121089
Gene: ENSMUSG00000037426
AA Change: F911S
| 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 |
|
| Meta Mutation Damage Score |
0.1655 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
99% (77/78) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
T |
2: 68,421,864 (GRCm39) |
N47I |
probably benign |
Het |
| Actr5 |
T |
C |
2: 158,478,001 (GRCm39) |
F457S |
probably damaging |
Het |
| Adamts3 |
A |
G |
5: 89,831,034 (GRCm39) |
S1007P |
probably damaging |
Het |
| Adck2 |
C |
T |
6: 39,560,932 (GRCm39) |
A440V |
possibly damaging |
Het |
| Birc6 |
T |
A |
17: 74,967,609 (GRCm39) |
L301Q |
probably damaging |
Het |
| Ccdc121rt3 |
A |
T |
5: 112,502,984 (GRCm39) |
V240D |
probably damaging |
Het |
| Ccdc18 |
A |
C |
5: 108,376,454 (GRCm39) |
E1298D |
probably damaging |
Het |
| Ccdc77 |
A |
G |
6: 120,316,120 (GRCm39) |
C186R |
probably benign |
Het |
| Cdk12 |
T |
G |
11: 98,109,900 (GRCm39) |
S640R |
probably benign |
Het |
| Cdv3 |
T |
C |
9: 103,242,317 (GRCm39) |
|
probably benign |
Het |
| Celf2 |
G |
A |
2: 6,558,700 (GRCm39) |
T364I |
probably damaging |
Het |
| Cmtr2 |
C |
A |
8: 110,949,413 (GRCm39) |
S574R |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,313,318 (GRCm39) |
L56P |
unknown |
Het |
| Cracdl |
C |
A |
1: 37,652,556 (GRCm39) |
V1084L |
probably benign |
Het |
| Dctn1 |
C |
T |
6: 83,176,782 (GRCm39) |
L1241F |
possibly damaging |
Het |
| Dhcr24 |
G |
T |
4: 106,418,291 (GRCm39) |
|
probably benign |
Het |
| Dnajc21 |
A |
G |
15: 10,462,021 (GRCm39) |
S127P |
probably benign |
Het |
| Entpd7 |
A |
T |
19: 43,716,527 (GRCm39) |
Y507F |
possibly damaging |
Het |
| Fbp1 |
T |
C |
13: 63,019,120 (GRCm39) |
K24E |
probably benign |
Het |
| Galr1 |
A |
T |
18: 82,424,048 (GRCm39) |
N76K |
probably damaging |
Het |
| Glrb |
A |
G |
3: 80,767,542 (GRCm39) |
I226T |
probably damaging |
Het |
| Gm17421 |
T |
A |
12: 113,333,107 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4950 |
T |
A |
18: 51,998,856 (GRCm39) |
Q33L |
probably benign |
Het |
| Gnat2 |
A |
T |
3: 108,002,855 (GRCm39) |
M88L |
probably damaging |
Het |
| Gpr183 |
A |
G |
14: 122,191,589 (GRCm39) |
Y311H |
probably damaging |
Het |
| H2-M10.5 |
A |
G |
17: 37,085,891 (GRCm39) |
I308V |
probably benign |
Het |
| Hipk3 |
C |
T |
2: 104,301,830 (GRCm39) |
G121R |
probably benign |
Het |
| Hjurp |
A |
G |
1: 88,194,283 (GRCm39) |
|
probably benign |
Het |
| Homez |
C |
A |
14: 55,095,031 (GRCm39) |
V226F |
probably benign |
Het |
| Inf2 |
C |
A |
12: 112,577,258 (GRCm39) |
A1034D |
unknown |
Het |
| Kcnc4 |
G |
T |
3: 107,352,863 (GRCm39) |
P572T |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,760,147 (GRCm39) |
E1037G |
unknown |
Het |
| Krt78 |
T |
C |
15: 101,855,699 (GRCm39) |
E704G |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,057,548 (GRCm39) |
M541L |
probably benign |
Het |
| Lmbrd2 |
C |
T |
15: 9,194,852 (GRCm39) |
T618M |
possibly damaging |
Het |
| Ly6g6e |
G |
A |
17: 35,297,122 (GRCm39) |
R121Q |
probably benign |
Het |
| Mettl22 |
T |
C |
16: 8,305,225 (GRCm39) |
F293L |
probably damaging |
Het |
| Mib1 |
T |
C |
18: 10,751,906 (GRCm39) |
S263P |
probably damaging |
Het |
| Ndufaf1 |
T |
C |
2: 119,486,218 (GRCm39) |
E298G |
probably damaging |
Het |
| Nek1 |
T |
C |
8: 61,472,935 (GRCm39) |
V152A |
probably damaging |
Het |
| Nlrp4d |
T |
A |
7: 10,096,872 (GRCm39) |
D876V |
probably benign |
Het |
| Or10d5 |
A |
G |
9: 39,861,824 (GRCm39) |
L81P |
possibly damaging |
Het |
| Or11g7 |
T |
C |
14: 50,690,893 (GRCm39) |
L128P |
probably damaging |
Het |
| Or5an11 |
A |
T |
19: 12,246,283 (GRCm39) |
T230S |
probably damaging |
Het |
| Or5k15 |
T |
C |
16: 58,710,328 (GRCm39) |
E85G |
probably benign |
Het |
| Pcdha11 |
G |
T |
18: 37,140,325 (GRCm39) |
L651F |
probably damaging |
Het |
| Plekhg1 |
G |
A |
10: 3,908,048 (GRCm39) |
M988I |
probably benign |
Het |
| Plxnb1 |
G |
A |
9: 108,937,506 (GRCm39) |
R1169H |
probably benign |
Het |
| Ppp4r3a |
A |
G |
12: 101,008,912 (GRCm39) |
|
probably benign |
Het |
| Pum2 |
A |
T |
12: 8,798,931 (GRCm39) |
Q930L |
possibly damaging |
Het |
| Rbp4 |
T |
C |
19: 38,112,792 (GRCm39) |
E67G |
probably damaging |
Het |
| Rgs9 |
C |
A |
11: 109,116,603 (GRCm39) |
|
probably null |
Het |
| Semp2l1 |
C |
T |
1: 32,584,942 (GRCm39) |
A323T |
possibly damaging |
Het |
| Sipa1 |
A |
T |
19: 5,702,140 (GRCm39) |
D923E |
possibly damaging |
Het |
| Smc1a |
A |
G |
X: 150,830,971 (GRCm39) |
|
probably benign |
Het |
| Snx33 |
C |
A |
9: 56,825,822 (GRCm39) |
M546I |
probably benign |
Het |
| Spag17 |
T |
A |
3: 99,934,935 (GRCm39) |
W714R |
probably benign |
Het |
| Spata2 |
C |
T |
2: 167,326,126 (GRCm39) |
R231Q |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,530,765 (GRCm39) |
R2341C |
probably benign |
Het |
| Tas2r116 |
A |
T |
6: 132,832,557 (GRCm39) |
I53F |
possibly damaging |
Het |
| Tlk1 |
T |
C |
2: 70,600,349 (GRCm39) |
E110G |
probably damaging |
Het |
| Tmem102 |
T |
A |
11: 69,695,363 (GRCm39) |
E203V |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Tyw5 |
A |
G |
1: 57,435,907 (GRCm39) |
I82T |
possibly damaging |
Het |
| Uba6 |
A |
G |
5: 86,280,475 (GRCm39) |
|
probably null |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,838,829 (GRCm39) |
Y674C |
probably damaging |
Het |
| Vmn2r105 |
T |
A |
17: 20,448,097 (GRCm39) |
R242S |
probably benign |
Het |
| Vmn2r12 |
A |
G |
5: 109,234,398 (GRCm39) |
Y605H |
probably benign |
Het |
| Wdr77 |
A |
T |
3: 105,867,337 (GRCm39) |
K62* |
probably null |
Het |
| Zfhx4 |
C |
A |
3: 5,455,465 (GRCm39) |
A1153E |
probably benign |
Het |
| Zfp266 |
C |
A |
9: 20,410,558 (GRCm39) |
V540L |
possibly damaging |
Het |
| Zfp638 |
C |
A |
6: 83,943,421 (GRCm39) |
|
probably benign |
Het |
| Zfp644 |
A |
G |
5: 106,785,110 (GRCm39) |
M479T |
possibly damaging |
Het |
| Zfp951 |
G |
A |
5: 104,963,143 (GRCm39) |
T141I |
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 |
|
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'- ACAGTATATCCATGTCACAGGTGAG -3'
(R):5'- CCAGGCAGTTTGTCCAGAAC -3'
Sequencing Primer
(F):5'- ATGTCACAGGTGAGGCGCTG -3'
(R):5'- TTTGTCCAGAACGTGACCAG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation