Mutagenetix > Incidental Mutations

Incidental Mutation 'R0153:Depdc5'

22827

Institutional Source

Beutler Lab

Gene Symbol

Depdc5

Ensembl Gene

ENSMUSG00000037426

Gene Name

DEP domain containing 5

Synonyms

MMRRC Submission

038436-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0153 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32863701-32994236 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 32933937 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

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: 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: 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

noncoding transcript
Transcript: ENSMUST00000201802

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 90.1%

Validation Efficiency

97% (99/102)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190002N15Rik	G	T	9: 94,524,480	D291E	probably benign	Het
2010300C02Rik	A	G	1: 37,624,639	V726A	probably benign	Het
Abcb9	T	C	5: 124,080,056	M406V	probably benign	Het
Adar	T	C	3: 89,730,814	S2P	probably benign	Het
Adgre1	T	A	17: 57,443,939	S538T	possibly damaging	Het
Alms1	T	A	6: 85,641,381	I2803N	possibly damaging	Het
Amn1	G	T	6: 149,188,593		probably benign	Het
Arid1b	G	A	17: 5,342,932	A2246T	probably damaging	Het
BC024139	T	C	15: 76,121,747	E418G	probably damaging	Het
Bok	A	G	1: 93,686,517	D24G	probably damaging	Het
Cabp2	T	C	19: 4,084,913		probably benign	Het
Ccdc141	C	A	2: 77,165,238		probably benign	Het
Ccdc178	T	C	18: 22,150,435	T13A	probably benign	Het
Ccdc42	G	T	11: 68,587,650	V33F	possibly damaging	Het
Clcn7	G	A	17: 25,149,202		probably benign	Het
Cluh	A	G	11: 74,657,350		probably benign	Het
Cr1l	A	T	1: 195,114,856		probably benign	Het
Csnk1g3	T	A	18: 53,918,789		probably benign	Het
Dgkh	A	C	14: 78,570,129	Y1149*	probably null	Het
Dnaic1	A	G	4: 41,635,162		probably benign	Het
Efcab2	A	G	1: 178,474,886	E65G	possibly damaging	Het
Eno1b	T	C	18: 48,047,739	I328T	probably benign	Het
Fam71e2	A	T	7: 4,770,287	L177Q	probably damaging	Het
Fgfr4	A	G	13: 55,161,385		probably benign	Het
Gm10720	A	C	9: 3,015,787	S44R	probably null	Het
Gm17535	T	A	9: 3,035,786	L218H	probably benign	Het
Gm6471	A	T	7: 142,831,631		noncoding transcript	Het
Gm8994	A	T	6: 136,328,844	D101V	probably damaging	Het
Hnrnpm	C	T	17: 33,646,515	R724Q	probably damaging	Het
Homer1	C	T	13: 93,391,746	T117I	possibly damaging	Het
Hoxd4	A	T	2: 74,727,457	Q60L	probably damaging	Het
Ift172	T	C	5: 31,260,624	R1274G	probably benign	Het
Ino80d	A	G	1: 63,058,318	S806P	probably damaging	Het
Itga10	T	C	3: 96,653,700	V627A	probably benign	Het
Itgb2l	A	G	16: 96,437,369	Y77H	possibly damaging	Het
Kel	A	T	6: 41,701,943	H195Q	probably benign	Het
Klhdc7a	A	G	4: 139,967,271	S122P	possibly damaging	Het
Krt71	T	A	15: 101,734,706	I456F	possibly damaging	Het
Lats1	T	A	10: 7,691,575	S37T	probably damaging	Het
Lrp1b	T	A	2: 41,123,019	H1858L	possibly damaging	Het
Matk	A	T	10: 81,262,842	T461S	probably benign	Het
Meikin	A	G	11: 54,409,642		probably benign	Het
Muc6	T	C	7: 141,634,116	Q2832R	possibly damaging	Het
Myo10	T	C	15: 25,781,238	F194L	possibly damaging	Het
Nbas	G	A	12: 13,273,876		probably benign	Het
Nme4	A	G	17: 26,093,857		probably null	Het
Olfr1136	A	G	2: 87,693,604	S93P	probably benign	Het
Olfr1217	T	A	2: 89,023,196	N269I	probably benign	Het
Olfr1340	A	T	4: 118,726,333	I29F	possibly damaging	Het
Olfr851	T	A	9: 19,496,937	L63H	probably damaging	Het
Olfr954	T	C	9: 39,461,671	V80A	probably damaging	Het
Pacsin2	T	C	15: 83,377,661	Q473R	probably benign	Het
Patz1	A	G	11: 3,293,288	H427R	probably damaging	Het
Pkp3	A	G	7: 141,083,343	Y367C	probably damaging	Het
Prdm2	G	A	4: 143,133,768	P984L	possibly damaging	Het
Rev3l	T	A	10: 39,874,128	C3091*	probably null	Het
Rims4	C	T	2: 163,863,929	V262M	possibly damaging	Het
Rpl5	T	C	5: 107,904,757	F140L	probably benign	Het
Sec24a	A	C	11: 51,700,826	I1014M	probably benign	Het
Serpinb11	A	G	1: 107,372,203	H93R	probably benign	Het
Shank2	C	A	7: 144,070,135	H286N	probably benign	Het
Sipa1l2	G	T	8: 125,421,898	Q1651K	probably damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc30a5	A	T	13: 100,826,494	F75L	possibly damaging	Het
Slco1a1	G	T	6: 141,910,701		probably benign	Het
Smg5	C	T	3: 88,353,872		probably benign	Het
Snapc1	C	T	12: 73,975,032	R81C	probably damaging	Het
Taf8	A	T	17: 47,498,252		probably benign	Het
Tarsl2	A	G	7: 65,684,081	D617G	probably damaging	Het
Tbc1d5	A	T	17: 50,984,687		probably benign	Het
Tfcp2	C	G	15: 100,514,827	E315Q	probably damaging	Het
Tmf1	A	T	6: 97,170,384	S540R	probably damaging	Het
Tmprss4	T	C	9: 45,184,336	Q70R	probably benign	Het
Trip13	G	T	13: 73,920,064	A266E	possibly damaging	Het
Ttc24	T	A	3: 88,074,927		probably benign	Het
Ttll5	T	A	12: 85,831,966	I49N	probably damaging	Het
Ube2ql1	A	T	13: 69,738,592	M250K	possibly damaging	Het
Vmn1r87	A	T	7: 13,132,284	D25E	probably damaging	Het
Vmn2r84	A	G	10: 130,392,008	Y120H	probably benign	Het
Wdr6	G	A	9: 108,575,242	R481C	probably damaging	Het
Wdr60	A	G	12: 116,232,636	V497A	probably benign	Het
Zcchc6	G	A	13: 59,782,336	R962*	probably null	Het
Zdhhc17	A	T	10: 110,955,094	Y371*	probably null	Het
Zfp292	T	C	4: 34,811,185	N620D	probably benign	Het
Zfp932	T	A	5: 110,006,968	Y11N	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
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
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
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'- GTGGAGGCAGCTCATGTTGGTTA -3'
(R):5'- GGGCTTGCTCCTGCCCTCA -3'

Sequencing Primer
(F):5'- tgctcttaactgctgagcc -3'
(R):5'- TGCCCTCACTACTCCACAG -3'

Posted On

2013-04-16