Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01633:Depdc5'

93655

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) question?

Stock #

IGL01633

Quality Score

Status

Chromosome

Chromosomal Location

32863701-32994236 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32924200 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 569 (S569P)

Ref Sequence

ENSEMBL: ENSMUSP00000113980 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049780] [ENSMUST00000087897] [ENSMUST00000119705] [ENSMUST00000120902] [ENSMUST00000124780] [ENSMUST00000195980]

AlphaFold

P61460

Predicted Effect

probably damaging
Transcript: ENSMUST00000049780
AA Change: S569P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000052807
Gene: ENSMUSG00000037426
AA Change: S569P

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: S569P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000085207
Gene: ENSMUSG00000037426
AA Change: S569P

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: S569P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113862
Gene: ENSMUSG00000037426
AA Change: S569P

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: S569P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113980
Gene: ENSMUSG00000037426
AA Change: S569P

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

probably benign
Transcript: ENSMUST00000137169

SMART Domains

Protein: ENSMUSP00000121089
Gene: ENSMUSG00000037426

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

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

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	A	2: 25,444,394 (GRCm38)	S1868T	possibly damaging	Het
Abca3	G	A	17: 24,397,353 (GRCm38)	W923*	probably null	Het
Abca8b	A	G	11: 109,936,754 (GRCm38)	M1476T	probably damaging	Het
Abi3bp	T	C	16: 56,677,800 (GRCm38)	F729S	probably damaging	Het
Acacb	T	C	5: 114,218,858 (GRCm38)		probably benign	Het
Aldh3a2	A	G	11: 61,248,905 (GRCm38)	L467P	probably benign	Het
Appl1	T	C	14: 26,962,838 (GRCm38)	T85A	probably damaging	Het
Aspm	T	A	1: 139,480,836 (GRCm38)	I2487N	possibly damaging	Het
Bcl2a1c	G	A	9: 114,330,222 (GRCm38)	V23I	probably benign	Het
C2cd2	T	A	16: 97,875,123 (GRCm38)		probably benign	Het
Carmil3	A	T	14: 55,494,227 (GRCm38)	H170L	possibly damaging	Het
Ccdc141	C	T	2: 77,089,249 (GRCm38)	V305I	probably benign	Het
Ccdc174	G	A	6: 91,880,362 (GRCm38)		probably null	Het
Cep126	T	G	9: 8,103,319 (GRCm38)	Q230P	possibly damaging	Het
Chrm1	T	C	19: 8,678,495 (GRCm38)	I188T	probably benign	Het
Drc1	G	A	5: 30,345,663 (GRCm38)	E177K	probably damaging	Het
Duox1	A	G	2: 122,333,798 (GRCm38)	E913G	probably benign	Het
Fbxw9	T	C	8: 85,064,426 (GRCm38)	S241P	probably damaging	Het
Fez2	C	A	17: 78,404,718 (GRCm38)		probably benign	Het
Fga	G	T	3: 83,030,299 (GRCm38)	R161L	possibly damaging	Het
Fn3krp	G	T	11: 121,429,707 (GRCm38)	G293*	probably null	Het
Gfra1	C	T	19: 58,267,047 (GRCm38)	E318K	probably benign	Het
Gli3	C	T	13: 15,648,634 (GRCm38)	P314S	probably damaging	Het
Gm5114	A	T	7: 39,408,066 (GRCm38)	S710T	probably benign	Het
Gpr141	T	C	13: 19,752,599 (GRCm38)	D2G	probably benign	Het
Inppl1	G	A	7: 101,833,834 (GRCm38)	Q63*	probably null	Het
Lrrc73	T	A	17: 46,255,731 (GRCm38)	V169E	possibly damaging	Het
Lsm11	C	T	11: 45,933,788 (GRCm38)	R304Q	probably benign	Het
Macf1	T	C	4: 123,502,171 (GRCm38)	D788G	probably damaging	Het
Nbas	T	A	12: 13,483,897 (GRCm38)	D1844E	probably damaging	Het
Nt5c	A	G	11: 115,491,335 (GRCm38)	F73L	probably damaging	Het
Osmr	A	T	15: 6,824,604 (GRCm38)	I541N	probably damaging	Het
Phrf1	A	G	7: 141,260,500 (GRCm38)	I1203V	probably benign	Het
Pram1	C	A	17: 33,642,135 (GRCm38)	P510Q	possibly damaging	Het
Prepl	A	G	17: 85,072,016 (GRCm38)	Y415H	probably benign	Het
Prss27	A	T	17: 24,045,676 (GRCm38)	H271L	probably damaging	Het
Ptpn18	A	G	1: 34,471,908 (GRCm38)	S287G	probably benign	Het
Ptprq	T	C	10: 107,699,723 (GRCm38)		probably benign	Het
Sars2	A	G	7: 28,747,549 (GRCm38)	K218E	probably benign	Het
Senp6	G	T	9: 80,092,394 (GRCm38)	S31I	probably damaging	Het
Shld2	G	T	14: 34,249,179 (GRCm38)	T31K	probably damaging	Het
Skint6	C	A	4: 113,238,049 (GRCm38)	V138F	probably damaging	Het
Slc4a8	C	A	15: 100,787,247 (GRCm38)	H168N	probably damaging	Het
Tbx15	T	G	3: 99,313,042 (GRCm38)	I150S	probably damaging	Het
Tbxas1	A	G	6: 38,982,191 (GRCm38)	N103D	probably benign	Het
Tmc5	A	G	7: 118,623,586 (GRCm38)	N170D	probably damaging	Het
Tmem108	A	T	9: 103,484,751 (GRCm38)	N545K	probably benign	Het
Trub1	A	G	19: 57,453,184 (GRCm38)	K80E	possibly damaging	Het
Tulp3	A	T	6: 128,325,960 (GRCm38)	Y299N	probably damaging	Het

Other mutations in Depdc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00861:Depdc5	APN	5	32,967,814 (GRCm38)	splice site	probably null
IGL01019:Depdc5	APN	5	32,893,401 (GRCm38)	missense	probably damaging	0.96
IGL01067:Depdc5	APN	5	32,899,067 (GRCm38)	splice site	probably null
IGL01405:Depdc5	APN	5	32,937,689 (GRCm38)	missense	possibly damaging	0.90
IGL01577:Depdc5	APN	5	32,955,897 (GRCm38)	missense	possibly damaging	0.49
IGL01998:Depdc5	APN	5	32,945,151 (GRCm38)	splice site	probably benign
IGL02025:Depdc5	APN	5	32,946,632 (GRCm38)	critical splice acceptor site	probably null
IGL02167:Depdc5	APN	5	32,903,801 (GRCm38)	missense	probably damaging	1.00
IGL02537:Depdc5	APN	5	32,967,787 (GRCm38)	missense	probably damaging	1.00
IGL02812:Depdc5	APN	5	32,893,368 (GRCm38)	splice site	probably benign
IGL03001:Depdc5	APN	5	32,945,090 (GRCm38)	missense	possibly damaging	0.74
IGL03253:Depdc5	APN	5	32,868,813 (GRCm38)	unclassified	probably benign
alligator	UTSW	5	32,964,507 (GRCm38)	splice site	probably null
lagarto	UTSW	5	32,979,508 (GRCm38)	missense	probably damaging	1.00
sauros	UTSW	5	32,986,966 (GRCm38)	missense	possibly damaging	0.92
IGL02988:Depdc5	UTSW	5	32,956,167 (GRCm38)	splice site	probably null
R0038:Depdc5	UTSW	5	32,868,853 (GRCm38)	missense	probably benign	0.01
R0038:Depdc5	UTSW	5	32,868,853 (GRCm38)	missense	probably benign	0.01
R0153:Depdc5	UTSW	5	32,933,937 (GRCm38)	splice site	probably benign
R0179:Depdc5	UTSW	5	32,901,574 (GRCm38)	unclassified	probably benign
R0212:Depdc5	UTSW	5	32,912,242 (GRCm38)	missense	probably benign	0.00
R0239:Depdc5	UTSW	5	32,943,240 (GRCm38)	missense	probably damaging	1.00
R0239:Depdc5	UTSW	5	32,943,240 (GRCm38)	missense	probably damaging	1.00
R0302:Depdc5	UTSW	5	32,904,546 (GRCm38)	critical splice donor site	probably benign
R0511:Depdc5	UTSW	5	32,945,028 (GRCm38)	nonsense	probably null
R0677:Depdc5	UTSW	5	32,901,470 (GRCm38)	missense	probably damaging	1.00
R0884:Depdc5	UTSW	5	32,917,978 (GRCm38)	missense	possibly damaging	0.94
R0973:Depdc5	UTSW	5	32,986,966 (GRCm38)	missense	possibly damaging	0.92
R1314:Depdc5	UTSW	5	32,877,074 (GRCm38)	missense	probably damaging	1.00
R1611:Depdc5	UTSW	5	32,990,953 (GRCm38)	missense	probably damaging	1.00
R1687:Depdc5	UTSW	5	32,910,407 (GRCm38)	critical splice acceptor site	probably benign
R1748:Depdc5	UTSW	5	32,917,942 (GRCm38)	missense	probably benign	0.24
R1903:Depdc5	UTSW	5	32,910,407 (GRCm38)	critical splice acceptor site	probably benign
R1956:Depdc5	UTSW	5	32,903,831 (GRCm38)	missense	probably damaging	1.00
R1997:Depdc5	UTSW	5	32,901,906 (GRCm38)	critical splice donor site	probably null
R2079:Depdc5	UTSW	5	32,946,674 (GRCm38)	missense	possibly damaging	0.75
R2131:Depdc5	UTSW	5	32,990,781 (GRCm38)	nonsense	probably null
R2291:Depdc5	UTSW	5	32,979,402 (GRCm38)	missense	probably damaging	1.00
R2422:Depdc5	UTSW	5	32,991,035 (GRCm38)	missense	probably damaging	1.00
R2851:Depdc5	UTSW	5	32,924,171 (GRCm38)	missense	probably damaging	0.96
R2852:Depdc5	UTSW	5	32,924,171 (GRCm38)	missense	probably damaging	0.96
R2937:Depdc5	UTSW	5	32,901,621 (GRCm38)	splice site	probably null
R2938:Depdc5	UTSW	5	32,901,621 (GRCm38)	splice site	probably null
R2974:Depdc5	UTSW	5	32,934,017 (GRCm38)	critical splice donor site	probably null
R3884:Depdc5	UTSW	5	32,944,077 (GRCm38)	missense	probably damaging	1.00
R3967:Depdc5	UTSW	5	32,944,115 (GRCm38)	nonsense	probably null
R4118:Depdc5	UTSW	5	32,964,635 (GRCm38)	missense	probably damaging	1.00
R4197:Depdc5	UTSW	5	32,991,203 (GRCm38)	missense	possibly damaging	0.93
R4407:Depdc5	UTSW	5	32,904,534 (GRCm38)	critical splice donor site	probably null
R4534:Depdc5	UTSW	5	32,910,407 (GRCm38)	critical splice acceptor site	probably benign
R4535:Depdc5	UTSW	5	32,910,407 (GRCm38)	critical splice acceptor site	probably benign
R4538:Depdc5	UTSW	5	32,983,946 (GRCm38)	missense	probably damaging	1.00
R4613:Depdc5	UTSW	5	32,975,446 (GRCm38)	missense	probably damaging	1.00
R4736:Depdc5	UTSW	5	32,975,322 (GRCm38)	missense	probably benign
R4738:Depdc5	UTSW	5	32,975,322 (GRCm38)	missense	probably benign
R4765:Depdc5	UTSW	5	32,937,635 (GRCm38)	missense	probably damaging	1.00
R5021:Depdc5	UTSW	5	32,979,414 (GRCm38)	missense	probably damaging	1.00
R5259:Depdc5	UTSW	5	32,938,291 (GRCm38)	missense	probably damaging	1.00
R5261:Depdc5	UTSW	5	32,938,291 (GRCm38)	missense	probably damaging	1.00
R5541:Depdc5	UTSW	5	32,864,629 (GRCm38)	utr 5 prime	probably benign
R5594:Depdc5	UTSW	5	32,901,490 (GRCm38)	missense	possibly damaging	0.46
R5929:Depdc5	UTSW	5	32,975,506 (GRCm38)	nonsense	probably null
R6132:Depdc5	UTSW	5	32,910,467 (GRCm38)	missense	probably damaging	0.99
R6146:Depdc5	UTSW	5	32,968,731 (GRCm38)	missense	probably benign	0.01
R6336:Depdc5	UTSW	5	32,964,507 (GRCm38)	splice site	probably null
R6468:Depdc5	UTSW	5	32,912,231 (GRCm38)	missense	probably benign	0.02
R6911:Depdc5	UTSW	5	32,924,192 (GRCm38)	missense	probably damaging	1.00
R6969:Depdc5	UTSW	5	32,983,860 (GRCm38)	missense	probably damaging	1.00
R7002:Depdc5	UTSW	5	32,877,158 (GRCm38)	splice site	probably null
R7066:Depdc5	UTSW	5	32,901,848 (GRCm38)	missense	probably benign	0.08
R7231:Depdc5	UTSW	5	32,901,865 (GRCm38)	missense	possibly damaging	0.92
R7264:Depdc5	UTSW	5	32,967,745 (GRCm38)	missense	probably benign
R7302:Depdc5	UTSW	5	32,979,508 (GRCm38)	missense	probably damaging	1.00
R7386:Depdc5	UTSW	5	32,927,936 (GRCm38)	missense	probably benign
R7564:Depdc5	UTSW	5	32,901,510 (GRCm38)	missense	probably damaging	1.00
R7636:Depdc5	UTSW	5	32,917,983 (GRCm38)	missense	probably benign
R7795:Depdc5	UTSW	5	32,944,103 (GRCm38)	missense	probably damaging	1.00
R7845:Depdc5	UTSW	5	32,903,915 (GRCm38)	splice site	probably null
R8013:Depdc5	UTSW	5	32,973,842 (GRCm38)	missense	probably benign	0.01
R8037:Depdc5	UTSW	5	32,959,348 (GRCm38)	critical splice donor site	probably null
R8038:Depdc5	UTSW	5	32,959,348 (GRCm38)	critical splice donor site	probably null
R8065:Depdc5	UTSW	5	32,895,908 (GRCm38)	missense	possibly damaging	0.89
R8067:Depdc5	UTSW	5	32,895,908 (GRCm38)	missense	possibly damaging	0.89
R8108:Depdc5	UTSW	5	32,945,049 (GRCm38)	missense	probably benign	0.01
R8112:Depdc5	UTSW	5	32,968,706 (GRCm38)	missense	possibly damaging	0.67
R8213:Depdc5	UTSW	5	32,937,637 (GRCm38)	missense	probably damaging	1.00
R8382:Depdc5	UTSW	5	32,927,898 (GRCm38)	missense	probably benign	0.00
R8680:Depdc5	UTSW	5	32,944,038 (GRCm38)	missense	possibly damaging	0.48
R8743:Depdc5	UTSW	5	32,924,243 (GRCm38)	missense	probably benign	0.10
R8754:Depdc5	UTSW	5	32,979,537 (GRCm38)	missense	probably benign	0.00
R9157:Depdc5	UTSW	5	32,945,108 (GRCm38)	missense	probably damaging	0.98
R9364:Depdc5	UTSW	5	32,964,732 (GRCm38)	missense	probably benign
R9441:Depdc5	UTSW	5	32,937,698 (GRCm38)	missense	probably benign	0.03
R9450:Depdc5	UTSW	5	32,934,010 (GRCm38)	missense	probably benign
R9459:Depdc5	UTSW	5	32,990,773 (GRCm38)	missense	probably damaging	0.99
R9554:Depdc5	UTSW	5	32,964,732 (GRCm38)	missense	probably benign
R9569:Depdc5	UTSW	5	32,867,977 (GRCm38)	missense	probably damaging	0.98
R9647:Depdc5	UTSW	5	32,924,223 (GRCm38)	missense	possibly damaging	0.94
R9688:Depdc5	UTSW	5	32,897,932 (GRCm38)	nonsense	probably null
X0027:Depdc5	UTSW	5	32,904,292 (GRCm38)	missense	probably damaging	1.00
Z1176:Depdc5	UTSW	5	32,943,282 (GRCm38)	missense	possibly damaging	0.87

Posted On

2013-12-09