Mutagenetix > Incidental Mutation

Incidental Mutation 'R0302:Depdc5'

24841

Institutional Source

Beutler Lab

Gene Symbol

Depdc5

Ensembl Gene

ENSMUSG00000037426

Gene Name

DEP domain containing 5

Synonyms

MMRRC Submission

038514-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0302 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32863701-32994236 bp(+) (GRCm38)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

T to C at 32904546 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

P61460

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

noncoding transcript
Transcript: ENSMUST00000139098

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

Predicted Effect

probably benign
Transcript: ENSMUST00000201836

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.1%
20x: 89.5%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl2	T	C	4: 126,317,392 (GRCm38)	E244G	probably benign	Het
Aldh1l2	G	A	10: 83,520,365 (GRCm38)	P54S	probably damaging	Het
Ankdd1a	G	A	9: 65,509,642 (GRCm38)		probably benign	Het
Ankra2	T	A	13: 98,271,692 (GRCm38)	S216R	probably damaging	Het
Asah2	A	T	19: 32,052,956 (GRCm38)	N105K	probably benign	Het
Ass1	A	T	2: 31,514,819 (GRCm38)	N371Y	probably damaging	Het
Cacna1s	A	G	1: 136,100,604 (GRCm38)	Y893C	probably benign	Het
Capza2	G	A	6: 17,648,524 (GRCm38)	R15H	probably benign	Het
Cbfa2t2	T	C	2: 154,534,876 (GRCm38)		probably benign	Het
Ccdc96	A	T	5: 36,486,101 (GRCm38)	T484S	possibly damaging	Het
Cckar	GCTTAGCCTCTTCT	GCT	5: 53,700,299 (GRCm38)		probably null	Het
Ccl4	T	A	11: 83,663,454 (GRCm38)		probably benign	Het
Cpt1b	A	G	15: 89,417,870 (GRCm38)	Y702H	probably benign	Het
Cr1l	G	A	1: 195,117,793 (GRCm38)	T153I	probably damaging	Het
Cyth2	C	A	7: 45,810,585 (GRCm38)	E57*	probably null	Het
Daxx	T	A	17: 33,913,620 (GRCm38)	S575T	probably damaging	Het
Dnah12	A	G	14: 26,799,999 (GRCm38)	D1923G	probably damaging	Het
Dnah7b	A	G	1: 46,123,777 (GRCm38)	T428A	probably benign	Het
Dnm2	G	T	9: 21,500,343 (GRCm38)	A619S	probably benign	Het
Enpp2	T	C	15: 54,860,061 (GRCm38)	T639A	probably benign	Het
Epsti1	A	T	14: 77,939,926 (GRCm38)	H182L	probably damaging	Het
Exoc3l	C	T	8: 105,293,543 (GRCm38)	R250Q	probably benign	Het
Ggn	G	T	7: 29,171,240 (GRCm38)		probably null	Het
Il1rap	A	G	16: 26,692,794 (GRCm38)	N196S	probably benign	Het
Ints6	T	C	14: 62,709,512 (GRCm38)	T335A	probably damaging	Het
Itga1	G	A	13: 115,012,318 (GRCm38)		probably benign	Het
Kifc3	G	T	8: 95,103,470 (GRCm38)	Q557K	possibly damaging	Het
Krt23	A	G	11: 99,478,201 (GRCm38)	I422T	probably benign	Het
Lcn2	A	G	2: 32,384,889 (GRCm38)		probably benign	Het
Lonp2	A	G	8: 86,637,991 (GRCm38)	T326A	possibly damaging	Het
Lrpprc	T	C	17: 84,740,078 (GRCm38)	I909V	possibly damaging	Het
Lrrc14	G	T	15: 76,714,352 (GRCm38)	R396L	probably benign	Het
Lypd6	T	G	2: 50,165,667 (GRCm38)		probably benign	Het
Man2b1	A	G	8: 85,093,016 (GRCm38)	N610S	probably damaging	Het
Map2	A	T	1: 66,414,828 (GRCm38)	N959I	probably benign	Het
Mctp2	C	T	7: 72,090,264 (GRCm38)	V793I	possibly damaging	Het
Med25	A	C	7: 44,880,558 (GRCm38)		probably benign	Het
Mfsd6	T	C	1: 52,709,457 (GRCm38)	Y83C	probably damaging	Het
Mtbp	A	T	15: 55,625,424 (GRCm38)	M499L	probably damaging	Het
Mtmr10	A	T	7: 64,297,497 (GRCm38)	K53N	probably damaging	Het
Nfat5	T	C	8: 107,358,701 (GRCm38)	I542T	probably damaging	Het
Nr1h3	A	G	2: 91,192,013 (GRCm38)	M90T	probably damaging	Het
Nsmce4a	A	G	7: 130,545,893 (GRCm38)		probably benign	Het
Olfr1168	T	A	2: 88,185,510 (GRCm38)	I211N	possibly damaging	Het
Oprl1	G	A	2: 181,719,228 (GRCm38)	C318Y	probably benign	Het
Pbx3	A	T	2: 34,224,560 (GRCm38)	S46T	probably benign	Het
Pign	A	T	1: 105,589,093 (GRCm38)	F575I	possibly damaging	Het
Ptpn13	G	T	5: 103,565,225 (GRCm38)	S1738I	probably benign	Het
Rnf126	G	T	10: 79,759,223 (GRCm38)	P269Q	probably damaging	Het
Ryr3	G	A	2: 112,647,123 (GRCm38)		probably benign	Het
Slc2a7	C	T	4: 150,149,521 (GRCm38)	A31V	probably damaging	Het
Slc6a12	A	G	6: 121,363,259 (GRCm38)	D487G	probably damaging	Het
Son	G	T	16: 91,656,144 (GRCm38)	G593V	probably damaging	Het
Spata31d1a	T	C	13: 59,703,150 (GRCm38)	N388S	probably benign	Het
Spg11	A	T	2: 122,092,187 (GRCm38)	M927K	possibly damaging	Het
Taf13	A	G	3: 108,571,722 (GRCm38)	M1V	probably null	Het
Trim32	G	A	4: 65,613,254 (GRCm38)	R16Q	probably damaging	Het
Trio	A	G	15: 27,902,517 (GRCm38)	F286S	probably damaging	Het
Trpm2	A	C	10: 77,943,990 (GRCm38)		probably benign	Het
Ttc7b	T	C	12: 100,387,179 (GRCm38)	M390V	possibly damaging	Het
Vmn1r184	A	T	7: 26,267,543 (GRCm38)	Q238L	probably damaging	Het
Zfp236	T	C	18: 82,658,088 (GRCm38)	E368G	probably damaging	Het
Zfr2	G	T	10: 81,251,336 (GRCm38)		probably benign	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
IGL01633:Depdc5	APN	5	32,924,200 (GRCm38)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGACGGGACCACTTACTTATGCTCC -3'
(R):5'- GTACGCACTAAGCCACAGGTACAG -3'

Sequencing Primer
(F):5'- CATGCTGTGCCATTATTCAAGG -3'
(R):5'- acaaatgacacacgcacac -3'

Posted On

2013-04-16