Incidental Mutation 'IGL01405:Depdc5'
| ID |
79775 |
| 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 # |
IGL01405
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
32863701-32994236 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32937689 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 779
(E779G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049780]
[ENSMUST00000087897]
[ENSMUST00000119705]
[ENSMUST00000120902]
[ENSMUST00000124780]
|
| AlphaFold |
P61460 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049780
AA Change: E770G
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000052807
Gene: ENSMUSG00000037426
AA Change: E770G
| 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 |
possibly damaging
Transcript: ENSMUST00000087897
AA Change: E779G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000085207
Gene: ENSMUSG00000037426
AA Change: E779G
| 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: E770G
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113862
Gene: ENSMUSG00000037426
AA Change: E770G
| 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: E770G
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113980
Gene: ENSMUSG00000037426
AA Change: E770G
| 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
AA Change: E132G
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000120120
Gene: ENSMUSG00000037426
AA Change: E132G
| 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: E176G
|
| SMART Domains |
Protein: ENSMUSP00000121089
Gene: ENSMUSG00000037426
AA Change: E176G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201802
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
G |
A |
17: 35,964,010 |
R82W |
probably damaging |
Het |
| Atxn7 |
T |
C |
14: 14,100,105 |
V597A |
probably benign |
Het |
| Bsg |
T |
A |
10: 79,711,514 |
M205K |
probably benign |
Het |
| Ccdc18 |
T |
C |
5: 108,202,186 |
|
probably benign |
Het |
| Cdh1 |
T |
C |
8: 106,649,001 |
V57A |
probably damaging |
Het |
| Ddost |
A |
G |
4: 138,311,703 |
D378G |
probably damaging |
Het |
| Elp5 |
T |
C |
11: 69,969,136 |
R250G |
probably damaging |
Het |
| Gnb1 |
A |
G |
4: 155,543,188 |
H142R |
probably damaging |
Het |
| Ift172 |
G |
T |
5: 31,261,852 |
Y1148* |
probably null |
Het |
| Kif5a |
T |
C |
10: 127,245,990 |
N153S |
probably damaging |
Het |
| Malrd1 |
G |
A |
2: 16,101,957 |
|
probably null |
Het |
| Man2a2 |
T |
A |
7: 80,360,934 |
M770L |
probably benign |
Het |
| Msh2 |
T |
C |
17: 87,678,235 |
L80P |
probably damaging |
Het |
| Naip5 |
A |
T |
13: 100,221,945 |
S928T |
probably benign |
Het |
| Olfr855 |
T |
A |
9: 19,585,205 |
S223T |
probably benign |
Het |
| Pla2g4d |
T |
C |
2: 120,266,823 |
N765S |
probably benign |
Het |
| Plcb4 |
C |
T |
2: 135,950,347 |
T330I |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,868,721 |
I127V |
probably benign |
Het |
| Rapgef5 |
C |
A |
12: 117,721,380 |
T320K |
probably benign |
Het |
| Rbfa |
A |
G |
18: 80,192,865 |
V223A |
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,610,344 |
M187V |
probably benign |
Het |
| Ric1 |
T |
C |
19: 29,567,370 |
|
probably benign |
Het |
| Slc22a16 |
C |
T |
10: 40,585,195 |
T331M |
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,412,128 |
S303P |
probably damaging |
Het |
| Slfn3 |
T |
C |
11: 83,214,716 |
V513A |
possibly damaging |
Het |
| Tbce |
A |
T |
13: 14,003,695 |
I370N |
probably damaging |
Het |
| Zfp358 |
G |
A |
8: 3,495,663 |
D109N |
probably benign |
Het |
| Zfp523 |
T |
C |
17: 28,204,506 |
S152P |
probably damaging |
Het |
| Zfp961 |
A |
G |
8: 71,967,934 |
N78S |
possibly damaging |
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 |
|
|
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 |
|
IGL03253:Depdc5
|
APN |
5 |
32868813 |
unclassified |
probably benign |
|
|
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 |
2013-11-05 |
Incidental Mutation