Incidental Mutation 'R1314:Depdc5'
| ID |
157500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Depdc5
|
| Ensembl Gene |
ENSMUSG00000037426 |
| Gene Name |
DEP domain containing 5 |
| Synonyms |
|
| MMRRC Submission |
039380-MU
|
| Accession Numbers |
|
| Is this an essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1314 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
32863701-32994236 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32877074 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 95
(V95E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143228
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049780]
[ENSMUST00000087897]
[ENSMUST00000118698]
[ENSMUST00000119705]
[ENSMUST00000120902]
[ENSMUST00000125574]
[ENSMUST00000149350]
[ENSMUST00000195980]
|
| AlphaFold |
P61460 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049780
AA Change: V95E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052807
Gene: ENSMUSG00000037426
AA Change: V95E
| 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 damaging
Transcript: ENSMUST00000087897
AA Change: V95E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000085207
Gene: ENSMUSG00000037426
AA Change: V95E
| 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: ENSMUST00000118698
AA Change: V95E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112906
Gene: ENSMUSG00000037426
AA Change: V95E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3608
|
100 |
205 |
1.9e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119705
AA Change: V95E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113862
Gene: ENSMUSG00000037426
AA Change: V95E
| 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: V95E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113980
Gene: ENSMUSG00000037426
AA Change: V95E
| 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 damaging
Transcript: ENSMUST00000125574
AA Change: V95E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122173
Gene: ENSMUSG00000037426
AA Change: V95E
| 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 damaging
Transcript: ENSMUST00000149350
AA Change: V95E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122461
Gene: ENSMUSG00000037426
AA Change: V95E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3608
|
100 |
161 |
1.5e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195980
AA Change: V95E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143228
Gene: ENSMUSG00000037426
AA Change: V95E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3608
|
100 |
147 |
4e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201802
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.2%
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
A |
G |
12: 21,329,071 |
L659P |
probably damaging |
Het |
| Cachd1 |
G |
T |
4: 100,974,917 |
G759C |
probably damaging |
Het |
| Filip1 |
T |
A |
9: 79,820,566 |
H257L |
probably damaging |
Het |
| Gfi1 |
A |
T |
5: 107,721,874 |
|
probably null |
Het |
| Golim4 |
T |
C |
3: 75,886,288 |
E579G |
probably damaging |
Het |
| Ikbkap |
T |
A |
4: 56,786,647 |
H432L |
probably benign |
Het |
| Kcnip1 |
A |
G |
11: 33,642,481 |
W140R |
probably damaging |
Het |
| Nutm1 |
A |
G |
2: 112,249,809 |
I587T |
probably benign |
Het |
| Olfr1257 |
A |
G |
2: 89,880,877 |
E17G |
probably benign |
Het |
| Prkag3 |
A |
G |
1: 74,747,184 |
S201P |
probably damaging |
Het |
| Prkdc |
C |
T |
16: 15,664,227 |
A378V |
possibly damaging |
Het |
| Rarb |
A |
G |
14: 16,508,932 |
|
probably null |
Het |
| Rfc2 |
T |
A |
5: 134,591,200 |
N167K |
probably damaging |
Het |
| Rnf43 |
A |
G |
11: 87,732,319 |
T749A |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 72,492,571 |
|
probably benign |
Het |
| Tectb |
A |
G |
19: 55,183,985 |
N155D |
probably damaging |
Het |
| Tnpo1 |
G |
A |
13: 98,860,722 |
P400S |
probably damaging |
Het |
| Ugt8a |
T |
C |
3: 125,871,748 |
T367A |
probably benign |
Het |
| Vmn2r39 |
A |
T |
7: 9,014,982 |
M785K |
probably damaging |
Het |
| Zfp819 |
C |
T |
7: 43,617,056 |
T321I |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTGCCTTTGCTGCGGAGAA -3'
(R):5'- ACAGGTgggtgtgatggtacatga -3'
Sequencing Primer
(F):5'- AATTCTCCTGTTCTGCTGTTGAG -3'
(R):5'- CCAAACTTTTCTTTAGTCGCCACA -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation