Mutagenetix > Incidental Mutation

Incidental Mutation 'R2974:Depdc5'

255314

Institutional Source

Beutler Lab

Gene Symbol

Depdc5

Ensembl Gene

ENSMUSG00000037426

Gene Name

DEP domain containing 5

Synonyms

MMRRC Submission

040527-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2974 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33021045-33151580 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 33091361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

P61460

Predicted Effect

probably null
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 null
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 null
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 null
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 null
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 null
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 null
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

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

97% (38/39)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	G	10: 79,844,801 (GRCm39)	F1508V	probably damaging	Het
Aoc1l1	A	G	6: 48,953,358 (GRCm39)	T428A	probably benign	Het
BC048507	T	C	13: 68,011,749 (GRCm39)	I42T	probably benign	Het
Cop1	A	G	1: 159,152,499 (GRCm39)	H583R	possibly damaging	Het
Crnkl1	A	G	2: 145,774,181 (GRCm39)	L94P	probably benign	Het
Cstdc2	T	C	2: 148,692,706 (GRCm39)	D32G	probably benign	Het
Ctu1	A	G	7: 43,325,074 (GRCm39)		probably benign	Het
D930007J09Rik	C	T	13: 32,986,742 (GRCm39)		probably benign	Het
Dnah14	A	T	1: 181,582,806 (GRCm39)		probably null	Het
Dpp10	A	G	1: 123,339,434 (GRCm39)		probably benign	Het
Gsdme	A	G	6: 50,206,304 (GRCm39)	C180R	probably damaging	Het
Gse1	C	A	8: 121,297,636 (GRCm39)		probably benign	Het
Med15	T	C	16: 17,470,575 (GRCm39)	Y744C	probably damaging	Het
Nlrp4d	A	G	7: 10,112,367 (GRCm39)		probably benign	Het
Nyap2	C	T	1: 81,169,485 (GRCm39)	R81*	probably null	Het
Or4p21	A	T	2: 88,276,918 (GRCm39)	C121*	probably null	Het
Or8g30	T	C	9: 39,230,292 (GRCm39)	N206S	probably damaging	Het
Phax	T	A	18: 56,706,134 (GRCm39)	M8K	probably benign	Het
Plec	C	G	15: 76,072,961 (GRCm39)	G631R	probably damaging	Het
Rgs3	A	T	4: 62,558,957 (GRCm39)	T476S	probably damaging	Het
Rogdi	G	T	16: 4,829,526 (GRCm39)	Q90K	probably damaging	Het
Rxrg	G	A	1: 167,466,715 (GRCm39)	R422H	probably damaging	Het
Serpinb9e	T	A	13: 33,439,126 (GRCm39)	V184E	probably benign	Het
Simc1	A	G	13: 54,698,274 (GRCm39)	D397G	probably damaging	Het
Slc25a27	T	C	17: 43,964,262 (GRCm39)	N203D	probably damaging	Het
Slit1	G	A	19: 41,599,455 (GRCm39)	P1032L	probably benign	Het
Sptlc3	A	G	2: 139,431,581 (GRCm39)	T368A	probably damaging	Het
Tnip1	C	T	11: 54,824,809 (GRCm39)		probably benign	Het
Tpgs1	A	G	10: 79,505,449 (GRCm39)	E69G	probably damaging	Het
Trpv5	T	C	6: 41,630,165 (GRCm39)	S642G	possibly damaging	Het
Ube2d2a	T	A	18: 35,933,225 (GRCm39)	D87E	possibly damaging	Het
Vmn2r117	A	G	17: 23,678,830 (GRCm39)	V798A	probably damaging	Het
Vmn2r77	T	C	7: 86,452,893 (GRCm39)	Y537H	probably benign	Het

Other mutations in Depdc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00861:Depdc5	APN	5	33,125,158 (GRCm39)	splice site	probably null
IGL01019:Depdc5	APN	5	33,050,745 (GRCm39)	missense	probably damaging	0.96
IGL01067:Depdc5	APN	5	33,056,411 (GRCm39)	splice site	probably null
IGL01405:Depdc5	APN	5	33,095,033 (GRCm39)	missense	possibly damaging	0.90
IGL01577:Depdc5	APN	5	33,113,241 (GRCm39)	missense	possibly damaging	0.49
IGL01633:Depdc5	APN	5	33,081,544 (GRCm39)	missense	probably damaging	1.00
IGL01998:Depdc5	APN	5	33,102,495 (GRCm39)	splice site	probably benign
IGL02025:Depdc5	APN	5	33,103,976 (GRCm39)	critical splice acceptor site	probably null
IGL02167:Depdc5	APN	5	33,061,145 (GRCm39)	missense	probably damaging	1.00
IGL02537:Depdc5	APN	5	33,125,131 (GRCm39)	missense	probably damaging	1.00
IGL02812:Depdc5	APN	5	33,050,712 (GRCm39)	splice site	probably benign
IGL03001:Depdc5	APN	5	33,102,434 (GRCm39)	missense	possibly damaging	0.74
IGL03253:Depdc5	APN	5	33,026,157 (GRCm39)	unclassified	probably benign
alligator	UTSW	5	33,121,851 (GRCm39)	splice site	probably null
lagarto	UTSW	5	33,136,852 (GRCm39)	missense	probably damaging	1.00
sauros	UTSW	5	33,144,310 (GRCm39)	missense	possibly damaging	0.92
IGL02988:Depdc5	UTSW	5	33,113,511 (GRCm39)	splice site	probably null
R0038:Depdc5	UTSW	5	33,026,197 (GRCm39)	missense	probably benign	0.01
R0038:Depdc5	UTSW	5	33,026,197 (GRCm39)	missense	probably benign	0.01
R0153:Depdc5	UTSW	5	33,091,281 (GRCm39)	splice site	probably benign
R0179:Depdc5	UTSW	5	33,058,918 (GRCm39)	unclassified	probably benign
R0212:Depdc5	UTSW	5	33,069,586 (GRCm39)	missense	probably benign	0.00
R0239:Depdc5	UTSW	5	33,100,584 (GRCm39)	missense	probably damaging	1.00
R0239:Depdc5	UTSW	5	33,100,584 (GRCm39)	missense	probably damaging	1.00
R0302:Depdc5	UTSW	5	33,061,890 (GRCm39)	critical splice donor site	probably benign
R0511:Depdc5	UTSW	5	33,102,372 (GRCm39)	nonsense	probably null
R0677:Depdc5	UTSW	5	33,058,814 (GRCm39)	missense	probably damaging	1.00
R0884:Depdc5	UTSW	5	33,075,322 (GRCm39)	missense	possibly damaging	0.94
R0973:Depdc5	UTSW	5	33,144,310 (GRCm39)	missense	possibly damaging	0.92
R1314:Depdc5	UTSW	5	33,034,418 (GRCm39)	missense	probably damaging	1.00
R1611:Depdc5	UTSW	5	33,148,297 (GRCm39)	missense	probably damaging	1.00
R1687:Depdc5	UTSW	5	33,067,751 (GRCm39)	critical splice acceptor site	probably benign
R1748:Depdc5	UTSW	5	33,075,286 (GRCm39)	missense	probably benign	0.24
R1903:Depdc5	UTSW	5	33,067,751 (GRCm39)	critical splice acceptor site	probably benign
R1956:Depdc5	UTSW	5	33,061,175 (GRCm39)	missense	probably damaging	1.00
R1997:Depdc5	UTSW	5	33,059,250 (GRCm39)	critical splice donor site	probably null
R2079:Depdc5	UTSW	5	33,104,018 (GRCm39)	missense	possibly damaging	0.75
R2131:Depdc5	UTSW	5	33,148,125 (GRCm39)	nonsense	probably null
R2291:Depdc5	UTSW	5	33,136,746 (GRCm39)	missense	probably damaging	1.00
R2422:Depdc5	UTSW	5	33,148,379 (GRCm39)	missense	probably damaging	1.00
R2851:Depdc5	UTSW	5	33,081,515 (GRCm39)	missense	probably damaging	0.96
R2852:Depdc5	UTSW	5	33,081,515 (GRCm39)	missense	probably damaging	0.96
R2937:Depdc5	UTSW	5	33,058,965 (GRCm39)	splice site	probably null
R2938:Depdc5	UTSW	5	33,058,965 (GRCm39)	splice site	probably null
R3884:Depdc5	UTSW	5	33,101,421 (GRCm39)	missense	probably damaging	1.00
R3967:Depdc5	UTSW	5	33,101,459 (GRCm39)	nonsense	probably null
R4118:Depdc5	UTSW	5	33,121,979 (GRCm39)	missense	probably damaging	1.00
R4197:Depdc5	UTSW	5	33,148,547 (GRCm39)	missense	possibly damaging	0.93
R4407:Depdc5	UTSW	5	33,061,878 (GRCm39)	critical splice donor site	probably null
R4534:Depdc5	UTSW	5	33,067,751 (GRCm39)	critical splice acceptor site	probably benign
R4535:Depdc5	UTSW	5	33,067,751 (GRCm39)	critical splice acceptor site	probably benign
R4538:Depdc5	UTSW	5	33,141,290 (GRCm39)	missense	probably damaging	1.00
R4613:Depdc5	UTSW	5	33,132,790 (GRCm39)	missense	probably damaging	1.00
R4736:Depdc5	UTSW	5	33,132,666 (GRCm39)	missense	probably benign
R4738:Depdc5	UTSW	5	33,132,666 (GRCm39)	missense	probably benign
R4765:Depdc5	UTSW	5	33,094,979 (GRCm39)	missense	probably damaging	1.00
R5021:Depdc5	UTSW	5	33,136,758 (GRCm39)	missense	probably damaging	1.00
R5259:Depdc5	UTSW	5	33,095,635 (GRCm39)	missense	probably damaging	1.00
R5261:Depdc5	UTSW	5	33,095,635 (GRCm39)	missense	probably damaging	1.00
R5541:Depdc5	UTSW	5	33,021,973 (GRCm39)	utr 5 prime	probably benign
R5594:Depdc5	UTSW	5	33,058,834 (GRCm39)	missense	possibly damaging	0.46
R5929:Depdc5	UTSW	5	33,132,850 (GRCm39)	nonsense	probably null
R6132:Depdc5	UTSW	5	33,067,811 (GRCm39)	missense	probably damaging	0.99
R6146:Depdc5	UTSW	5	33,126,075 (GRCm39)	missense	probably benign	0.01
R6336:Depdc5	UTSW	5	33,121,851 (GRCm39)	splice site	probably null
R6468:Depdc5	UTSW	5	33,069,575 (GRCm39)	missense	probably benign	0.02
R6911:Depdc5	UTSW	5	33,081,536 (GRCm39)	missense	probably damaging	1.00
R6969:Depdc5	UTSW	5	33,141,204 (GRCm39)	missense	probably damaging	1.00
R7002:Depdc5	UTSW	5	33,034,502 (GRCm39)	splice site	probably null
R7066:Depdc5	UTSW	5	33,059,192 (GRCm39)	missense	probably benign	0.08
R7231:Depdc5	UTSW	5	33,059,209 (GRCm39)	missense	possibly damaging	0.92
R7264:Depdc5	UTSW	5	33,125,089 (GRCm39)	missense	probably benign
R7302:Depdc5	UTSW	5	33,136,852 (GRCm39)	missense	probably damaging	1.00
R7386:Depdc5	UTSW	5	33,085,280 (GRCm39)	missense	probably benign
R7564:Depdc5	UTSW	5	33,058,854 (GRCm39)	missense	probably damaging	1.00
R7636:Depdc5	UTSW	5	33,075,327 (GRCm39)	missense	probably benign
R7795:Depdc5	UTSW	5	33,101,447 (GRCm39)	missense	probably damaging	1.00
R7845:Depdc5	UTSW	5	33,061,259 (GRCm39)	splice site	probably null
R8013:Depdc5	UTSW	5	33,131,186 (GRCm39)	missense	probably benign	0.01
R8037:Depdc5	UTSW	5	33,116,692 (GRCm39)	critical splice donor site	probably null
R8038:Depdc5	UTSW	5	33,116,692 (GRCm39)	critical splice donor site	probably null
R8065:Depdc5	UTSW	5	33,053,252 (GRCm39)	missense	possibly damaging	0.89
R8067:Depdc5	UTSW	5	33,053,252 (GRCm39)	missense	possibly damaging	0.89
R8108:Depdc5	UTSW	5	33,102,393 (GRCm39)	missense	probably benign	0.01
R8112:Depdc5	UTSW	5	33,126,050 (GRCm39)	missense	possibly damaging	0.67
R8213:Depdc5	UTSW	5	33,094,981 (GRCm39)	missense	probably damaging	1.00
R8382:Depdc5	UTSW	5	33,085,242 (GRCm39)	missense	probably benign	0.00
R8680:Depdc5	UTSW	5	33,101,382 (GRCm39)	missense	possibly damaging	0.48
R8743:Depdc5	UTSW	5	33,081,587 (GRCm39)	missense	probably benign	0.10
R8754:Depdc5	UTSW	5	33,136,881 (GRCm39)	missense	probably benign	0.00
R9157:Depdc5	UTSW	5	33,102,452 (GRCm39)	missense	probably damaging	0.98
R9364:Depdc5	UTSW	5	33,122,076 (GRCm39)	missense	probably benign
R9441:Depdc5	UTSW	5	33,095,042 (GRCm39)	missense	probably benign	0.03
R9450:Depdc5	UTSW	5	33,091,354 (GRCm39)	missense	probably benign
R9459:Depdc5	UTSW	5	33,148,117 (GRCm39)	missense	probably damaging	0.99
R9554:Depdc5	UTSW	5	33,122,076 (GRCm39)	missense	probably benign
R9569:Depdc5	UTSW	5	33,025,321 (GRCm39)	missense	probably damaging	0.98
R9647:Depdc5	UTSW	5	33,081,567 (GRCm39)	missense	possibly damaging	0.94
R9688:Depdc5	UTSW	5	33,055,276 (GRCm39)	nonsense	probably null
X0027:Depdc5	UTSW	5	33,061,636 (GRCm39)	missense	probably damaging	1.00
Z1176:Depdc5	UTSW	5	33,100,626 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- ACCCATTTCATAATTGGCACTTGG -3'
(R):5'- CTGAATTACACATCCTGGAGCAG -3'

Sequencing Primer
(F):5'- ATTTCATAATTGGCACTTGGTTTGTG -3'
(R):5'- TGGAGCAGGTCATTCCGC -3'

Posted On

2014-12-29