Mutagenetix > Incidental Mutation

Incidental Mutation 'R6336:Depdc5'

531249

Institutional Source

Beutler Lab

Gene Symbol

Depdc5

Ensembl Gene

ENSMUSG00000037426

Gene Name

DEP domain containing 5

Synonyms

MMRRC Submission

044490-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6336 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32863701-32994236 bp(+) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to C at 32964507 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

at position 176 (176)

Ref Sequence

ENSEMBL: ENSMUSP00000118681 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119705] [ENSMUST00000130461]

AlphaFold

P61460

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 null
Transcript: ENSMUST00000130461
AA Change: 176

SMART Domains

Protein: ENSMUSP00000118681
Gene: ENSMUSG00000037426
AA Change: 176

Domain	Start	End	E-Value	Type
low complexity region	70	82	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (45/46)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	G	T	5: 113,183,483 (GRCm38)	P955Q	possibly damaging	Het
Adgrv1	T	C	13: 81,385,981 (GRCm38)	N5827S	probably benign	Het
Akt3	T	C	1: 177,031,712 (GRCm38)	D431G	probably damaging	Het
Anapc16	A	T	10: 59,988,829 (GRCm38)	V76D	possibly damaging	Het
Ankib1	A	T	5: 3,700,377 (GRCm38)	Y755*	probably null	Het
Ankrd6	A	G	4: 32,860,411 (GRCm38)	S11P	probably damaging	Het
Card6	T	A	15: 5,099,164 (GRCm38)	K917*	probably null	Het
Ccdc152	T	C	15: 3,301,129 (GRCm38)	I21M	probably damaging	Het
Ccdc40	A	G	11: 119,231,993 (GRCm38)	E207G	possibly damaging	Het
Clca3a2	G	T	3: 144,806,478 (GRCm38)	A499E	probably benign	Het
Cntnap5b	C	T	1: 100,358,669 (GRCm38)	A383V	probably benign	Het
Ddo	T	C	10: 40,633,031 (GRCm38)	V89A	probably damaging	Het
Dlgap1	T	A	17: 70,815,289 (GRCm38)	D904E	probably damaging	Het
Ephb4	T	A	5: 137,372,085 (GRCm38)	L849H	probably damaging	Het
Fbxl13	A	G	5: 21,523,547 (GRCm38)		probably null	Het
Fer1l6	C	A	15: 58,559,232 (GRCm38)	Y245*	probably null	Het
Foxred2	A	G	15: 77,955,764 (GRCm38)	Y109H	probably damaging	Het
Gabarapl1	A	G	6: 129,537,528 (GRCm38)	D43G	probably benign	Het
Gabrb1	A	C	5: 72,029,898 (GRCm38)	E178A	possibly damaging	Het
Gbp11	A	G	5: 105,325,489 (GRCm38)			Het
Gm31371	A	G	8: 19,924,350 (GRCm38)	K242E	unknown	Het
Grin3b	C	A	10: 79,976,461 (GRCm38)	A845E	probably damaging	Het
Hoxd4	A	G	2: 74,727,361 (GRCm38)	Y28C	probably damaging	Het
Igsf10	G	A	3: 59,330,339 (GRCm38)	T807M	probably benign	Het
Kcnt1	A	G	2: 25,888,755 (GRCm38)		probably null	Het
Kdm5a	C	A	6: 120,398,978 (GRCm38)	T565K	probably damaging	Het
Map7d1	A	G	4: 126,236,682 (GRCm38)	S412P	probably damaging	Het
Mok	A	G	12: 110,834,124 (GRCm38)		probably null	Het
Mto1	A	T	9: 78,473,835 (GRCm38)	I73F	probably damaging	Het
Mtss2	G	A	8: 110,732,164 (GRCm38)	D310N	probably damaging	Het
Ncf2	T	C	1: 152,834,070 (GRCm38)	Y393H	probably damaging	Het
Or13c25	A	T	4: 52,911,459 (GRCm38)	C112S	probably damaging	Het
Or2f1b	T	C	6: 42,762,657 (GRCm38)	S202P	probably damaging	Het
Or2y14	G	T	11: 49,514,542 (GRCm38)	K301N	probably damaging	Het
Or4f47	A	C	2: 112,142,406 (GRCm38)	I154L	probably benign	Het
Or4k49	A	G	2: 111,664,619 (GRCm38)	H131R	possibly damaging	Het
Or52z1	T	C	7: 103,788,245 (GRCm38)	T11A	possibly damaging	Het
Phxr2	T	A	10: 99,126,090 (GRCm38)		probably benign	Het
Rnf17	A	G	14: 56,421,169 (GRCm38)		probably null	Het
Serpinb9d	T	C	13: 33,194,694 (GRCm38)	M41T	probably damaging	Het
Slc12a5	T	A	2: 164,992,464 (GRCm38)		probably null	Het
Slc22a6	G	A	19: 8,622,130 (GRCm38)	R331H	probably benign	Het
Spg11	G	C	2: 122,112,959 (GRCm38)		probably null	Het
Src	T	A	2: 157,457,155 (GRCm38)	V24E	probably benign	Het
Srgap1	A	T	10: 121,925,941 (GRCm38)	Y101N	probably benign	Het
Vmn2r30	T	A	7: 7,334,308 (GRCm38)	T110S	probably benign	Het
Vwa3a	A	G	7: 120,762,423 (GRCm38)	E119G	possibly damaging	Het
Whamm	T	A	7: 81,591,764 (GRCm38)	D274E	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
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
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
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'- GTCTAGGGTTACTGTGACTGAC -3'
(R):5'- CCAAAGGTCTGGTTGTTGCC -3'

Sequencing Primer
(F):5'- ACTGTGACTGACTGGCTTC -3'
(R):5'- TGTGCTGACCCCTAAACTGGTG -3'

Posted On

2018-08-17