Incidental Mutation 'IGL03253:Depdc5'
| ID |
414603 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Depdc5
|
| Ensembl Gene |
ENSMUSG00000037426 |
| Gene Name |
DEP domain containing 5 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03253
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
32863701-32994236 bp(+) (GRCm38) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 32868813 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144461
(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
|
| SMART Domains |
Protein: ENSMUSP00000052807
Gene: ENSMUSG00000037426
| 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
|
| SMART Domains |
Protein: ENSMUSP00000085207
Gene: ENSMUSG00000037426
| 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
|
| SMART Domains |
Protein: ENSMUSP00000112906
Gene: ENSMUSG00000037426
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3608
|
100 |
205 |
1.9e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119705
|
| SMART Domains |
Protein: ENSMUSP00000113862
Gene: ENSMUSG00000037426
| 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
|
| SMART Domains |
Protein: ENSMUSP00000113980
Gene: ENSMUSG00000037426
| 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
|
| SMART Domains |
Protein: ENSMUSP00000122173
Gene: ENSMUSG00000037426
| 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
|
| SMART Domains |
Protein: ENSMUSP00000122461
Gene: ENSMUSG00000037426
| 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
|
| 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: ENSMUST00000202927
|
| Coding Region Coverage |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
A |
12: 71,140,883 |
V98I |
probably benign |
Het |
| Aadacl4 |
G |
T |
4: 144,623,288 |
V372L |
probably benign |
Het |
| Acp5 |
A |
T |
9: 22,127,787 |
I210N |
probably damaging |
Het |
| Ash1l |
G |
A |
3: 88,984,674 |
A1287T |
probably damaging |
Het |
| AU018091 |
A |
T |
7: 3,164,172 |
C72S |
probably damaging |
Het |
| Ccdc178 |
G |
A |
18: 21,845,011 |
Q800* |
probably null |
Het |
| Cd47 |
A |
T |
16: 49,894,198 |
H190L |
probably benign |
Het |
| Clca2 |
T |
A |
3: 145,071,563 |
H849L |
probably benign |
Het |
| Cmya5 |
G |
A |
13: 93,091,270 |
Q2437* |
probably null |
Het |
| Erp44 |
T |
A |
4: 48,208,750 |
I237F |
probably benign |
Het |
| Gm8394 |
A |
G |
10: 85,313,692 |
|
noncoding transcript |
Het |
| Gramd1a |
C |
T |
7: 31,139,846 |
W8* |
probably null |
Het |
| Gucy2d |
C |
T |
7: 98,451,664 |
A398V |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,832,716 |
E1357G |
possibly damaging |
Het |
| Ighv1-11 |
T |
C |
12: 114,615,848 |
|
probably benign |
Het |
| Itih3 |
A |
C |
14: 30,911,923 |
|
probably null |
Het |
| Kcnk5 |
A |
G |
14: 20,142,337 |
V252A |
probably benign |
Het |
| Kif14 |
A |
G |
1: 136,487,460 |
E771G |
probably damaging |
Het |
| Klc1 |
T |
C |
12: 111,781,644 |
|
probably benign |
Het |
| Myom3 |
A |
G |
4: 135,783,097 |
E567G |
possibly damaging |
Het |
| Olfr1242 |
A |
G |
2: 89,493,799 |
V171A |
possibly damaging |
Het |
| Pfpl |
A |
G |
19: 12,430,029 |
D548G |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,704,223 |
V833A |
probably damaging |
Het |
| Scnn1g |
A |
T |
7: 121,737,933 |
K6* |
probably null |
Het |
| Sun1 |
T |
C |
5: 139,223,586 |
|
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,003,159 |
|
probably null |
Het |
| Ttc1 |
T |
A |
11: 43,738,823 |
E172V |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,769,020 |
V19215A |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,778,869 |
I461V |
probably benign |
Het |
| Wdr73 |
A |
G |
7: 80,897,946 |
M110T |
probably benign |
Het |
| Zfand4 |
A |
T |
6: 116,284,809 |
D111V |
probably damaging |
Het |
| Zscan4f |
T |
A |
7: 11,401,343 |
N225K |
probably benign |
Het |
|
| Other mutations in Depdc5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00861:Depdc5
|
APN |
5 |
32967814 |
splice site |
probably null |
|
|
IGL01019:Depdc5
|
APN |
5 |
32893401 |
missense |
probably damaging |
0.96 |
|
IGL01067:Depdc5
|
APN |
5 |
32899067 |
splice site |
probably null |
|
|
IGL01405:Depdc5
|
APN |
5 |
32937689 |
missense |
possibly damaging |
0.90 |
|
IGL01577:Depdc5
|
APN |
5 |
32955897 |
missense |
possibly damaging |
0.49 |
|
IGL01633:Depdc5
|
APN |
5 |
32924200 |
missense |
probably damaging |
1.00 |
|
IGL01998:Depdc5
|
APN |
5 |
32945151 |
splice site |
probably benign |
|
|
IGL02025:Depdc5
|
APN |
5 |
32946632 |
critical splice acceptor site |
probably null |
|
|
IGL02167:Depdc5
|
APN |
5 |
32903801 |
missense |
probably damaging |
1.00 |
|
IGL02537:Depdc5
|
APN |
5 |
32967787 |
missense |
probably damaging |
1.00 |
|
IGL02812:Depdc5
|
APN |
5 |
32893368 |
splice site |
probably benign |
|
|
IGL03001:Depdc5
|
APN |
5 |
32945090 |
missense |
possibly damaging |
0.74 |
|
alligator
|
UTSW |
5 |
32964507 |
splice site |
probably null |
|
|
lagarto
|
UTSW |
5 |
32979508 |
missense |
probably damaging |
1.00 |
|
sauros
|
UTSW |
5 |
32986966 |
missense |
possibly damaging |
0.92 |
|
IGL02988:Depdc5
|
UTSW |
5 |
32956167 |
splice site |
probably null |
|
|
R0038:Depdc5
|
UTSW |
5 |
32868853 |
missense |
probably benign |
0.01 |
|
R0038:Depdc5
|
UTSW |
5 |
32868853 |
missense |
probably benign |
0.01 |
|
R0153:Depdc5
|
UTSW |
5 |
32933937 |
splice site |
probably benign |
|
|
R0179:Depdc5
|
UTSW |
5 |
32901574 |
unclassified |
probably benign |
|
|
R0212:Depdc5
|
UTSW |
5 |
32912242 |
missense |
probably benign |
0.00 |
|
R0239:Depdc5
|
UTSW |
5 |
32943240 |
missense |
probably damaging |
1.00 |
|
R0239:Depdc5
|
UTSW |
5 |
32943240 |
missense |
probably damaging |
1.00 |
|
R0302:Depdc5
|
UTSW |
5 |
32904546 |
critical splice donor site |
probably benign |
|
|
R0511:Depdc5
|
UTSW |
5 |
32945028 |
nonsense |
probably null |
|
|
R0677:Depdc5
|
UTSW |
5 |
32901470 |
missense |
probably damaging |
1.00 |
|
R0884:Depdc5
|
UTSW |
5 |
32917978 |
missense |
possibly damaging |
0.94 |
|
R0973:Depdc5
|
UTSW |
5 |
32986966 |
missense |
possibly damaging |
0.92 |
|
R1314:Depdc5
|
UTSW |
5 |
32877074 |
missense |
probably damaging |
1.00 |
|
R1611:Depdc5
|
UTSW |
5 |
32990953 |
missense |
probably damaging |
1.00 |
|
R1687:Depdc5
|
UTSW |
5 |
32910407 |
critical splice acceptor site |
probably benign |
|
|
R1748:Depdc5
|
UTSW |
5 |
32917942 |
missense |
probably benign |
0.24 |
|
R1903:Depdc5
|
UTSW |
5 |
32910407 |
critical splice acceptor site |
probably benign |
|
|
R1956:Depdc5
|
UTSW |
5 |
32903831 |
missense |
probably damaging |
1.00 |
|
R1997:Depdc5
|
UTSW |
5 |
32901906 |
critical splice donor site |
probably null |
|
|
R2079:Depdc5
|
UTSW |
5 |
32946674 |
missense |
possibly damaging |
0.75 |
|
R2131:Depdc5
|
UTSW |
5 |
32990781 |
nonsense |
probably null |
|
|
R2291:Depdc5
|
UTSW |
5 |
32979402 |
missense |
probably damaging |
1.00 |
|
R2422:Depdc5
|
UTSW |
5 |
32991035 |
missense |
probably damaging |
1.00 |
|
R2851:Depdc5
|
UTSW |
5 |
32924171 |
missense |
probably damaging |
0.96 |
|
R2852:Depdc5
|
UTSW |
5 |
32924171 |
missense |
probably damaging |
0.96 |
|
R2937:Depdc5
|
UTSW |
5 |
32901621 |
splice site |
probably null |
|
|
R2938:Depdc5
|
UTSW |
5 |
32901621 |
splice site |
probably null |
|
|
R2974:Depdc5
|
UTSW |
5 |
32934017 |
critical splice donor site |
probably null |
|
|
R3884:Depdc5
|
UTSW |
5 |
32944077 |
missense |
probably damaging |
1.00 |
|
R3967:Depdc5
|
UTSW |
5 |
32944115 |
nonsense |
probably null |
|
|
R4118:Depdc5
|
UTSW |
5 |
32964635 |
missense |
probably damaging |
1.00 |
|
R4197:Depdc5
|
UTSW |
5 |
32991203 |
missense |
possibly damaging |
0.93 |
|
R4407:Depdc5
|
UTSW |
5 |
32904534 |
critical splice donor site |
probably null |
|
|
R4534:Depdc5
|
UTSW |
5 |
32910407 |
critical splice acceptor site |
probably benign |
|
|
R4535:Depdc5
|
UTSW |
5 |
32910407 |
critical splice acceptor site |
probably benign |
|
|
R4538:Depdc5
|
UTSW |
5 |
32983946 |
missense |
probably damaging |
1.00 |
|
R4613:Depdc5
|
UTSW |
5 |
32975446 |
missense |
probably damaging |
1.00 |
|
R4736:Depdc5
|
UTSW |
5 |
32975322 |
missense |
probably benign |
|
|
R4738:Depdc5
|
UTSW |
5 |
32975322 |
missense |
probably benign |
|
|
R4765:Depdc5
|
UTSW |
5 |
32937635 |
missense |
probably damaging |
1.00 |
|
R5021:Depdc5
|
UTSW |
5 |
32979414 |
missense |
probably damaging |
1.00 |
|
R5259:Depdc5
|
UTSW |
5 |
32938291 |
missense |
probably damaging |
1.00 |
|
R5261:Depdc5
|
UTSW |
5 |
32938291 |
missense |
probably damaging |
1.00 |
|
R5541:Depdc5
|
UTSW |
5 |
32864629 |
utr 5 prime |
probably benign |
|
|
R5594:Depdc5
|
UTSW |
5 |
32901490 |
missense |
possibly damaging |
0.46 |
|
R5929:Depdc5
|
UTSW |
5 |
32975506 |
nonsense |
probably null |
|
|
R6132:Depdc5
|
UTSW |
5 |
32910467 |
missense |
probably damaging |
0.99 |
|
R6146:Depdc5
|
UTSW |
5 |
32968731 |
missense |
probably benign |
0.01 |
|
R6336:Depdc5
|
UTSW |
5 |
32964507 |
splice site |
probably null |
|
|
R6468:Depdc5
|
UTSW |
5 |
32912231 |
missense |
probably benign |
0.02 |
|
R6911:Depdc5
|
UTSW |
5 |
32924192 |
missense |
probably damaging |
1.00 |
|
R6969:Depdc5
|
UTSW |
5 |
32983860 |
missense |
probably damaging |
1.00 |
|
R7002:Depdc5
|
UTSW |
5 |
32877158 |
splice site |
probably null |
|
|
R7066:Depdc5
|
UTSW |
5 |
32901848 |
missense |
probably benign |
0.08 |
|
R7231:Depdc5
|
UTSW |
5 |
32901865 |
missense |
possibly damaging |
0.92 |
|
R7264:Depdc5
|
UTSW |
5 |
32967745 |
missense |
probably benign |
|
|
R7302:Depdc5
|
UTSW |
5 |
32979508 |
missense |
probably damaging |
1.00 |
|
R7386:Depdc5
|
UTSW |
5 |
32927936 |
missense |
probably benign |
|
|
R7564:Depdc5
|
UTSW |
5 |
32901510 |
missense |
probably damaging |
1.00 |
|
R7636:Depdc5
|
UTSW |
5 |
32917983 |
missense |
probably benign |
|
|
R7795:Depdc5
|
UTSW |
5 |
32944103 |
missense |
probably damaging |
1.00 |
|
R7845:Depdc5
|
UTSW |
5 |
32903915 |
splice site |
probably null |
|
|
R8013:Depdc5
|
UTSW |
5 |
32973842 |
missense |
probably benign |
0.01 |
|
R8037:Depdc5
|
UTSW |
5 |
32959348 |
critical splice donor site |
probably null |
|
|
R8038:Depdc5
|
UTSW |
5 |
32959348 |
critical splice donor site |
probably null |
|
|
R8065:Depdc5
|
UTSW |
5 |
32895908 |
missense |
possibly damaging |
0.89 |
|
R8067:Depdc5
|
UTSW |
5 |
32895908 |
missense |
possibly damaging |
0.89 |
|
R8108:Depdc5
|
UTSW |
5 |
32945049 |
missense |
probably benign |
0.01 |
|
R8112:Depdc5
|
UTSW |
5 |
32968706 |
missense |
possibly damaging |
0.67 |
|
R8213:Depdc5
|
UTSW |
5 |
32937637 |
missense |
probably damaging |
1.00 |
|
R8382:Depdc5
|
UTSW |
5 |
32927898 |
missense |
probably benign |
0.00 |
|
R8680:Depdc5
|
UTSW |
5 |
32944038 |
missense |
possibly damaging |
0.48 |
|
R8743:Depdc5
|
UTSW |
5 |
32924243 |
missense |
probably benign |
0.10 |
|
R8754:Depdc5
|
UTSW |
5 |
32979537 |
missense |
probably benign |
0.00 |
|
R9157:Depdc5
|
UTSW |
5 |
32945108 |
missense |
probably damaging |
0.98 |
|
R9364:Depdc5
|
UTSW |
5 |
32964732 |
missense |
probably benign |
|
|
R9441:Depdc5
|
UTSW |
5 |
32937698 |
missense |
probably benign |
0.03 |
|
R9450:Depdc5
|
UTSW |
5 |
32934010 |
missense |
probably benign |
|
|
R9459:Depdc5
|
UTSW |
5 |
32990773 |
missense |
probably damaging |
0.99 |
|
R9554:Depdc5
|
UTSW |
5 |
32964732 |
missense |
probably benign |
|
|
R9569:Depdc5
|
UTSW |
5 |
32867977 |
missense |
probably damaging |
0.98 |
|
R9647:Depdc5
|
UTSW |
5 |
32924223 |
missense |
possibly damaging |
0.94 |
|
R9688:Depdc5
|
UTSW |
5 |
32897932 |
nonsense |
probably null |
|
|
X0027:Depdc5
|
UTSW |
5 |
32904292 |
missense |
probably damaging |
1.00 |
|
Z1176:Depdc5
|
UTSW |
5 |
32943282 |
missense |
possibly damaging |
0.87 |
|
| Posted On |
2016-08-02 |
Incidental Mutation