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

33021045-33151580 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to C at 33121851 bp (GRCm39)

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: 113,331,349 (GRCm39)	P955Q	possibly damaging	Het
Adgrv1	T	C	13: 81,534,100 (GRCm39)	N5827S	probably benign	Het
Akt3	T	C	1: 176,859,278 (GRCm39)	D431G	probably damaging	Het
Anapc16	A	T	10: 59,824,651 (GRCm39)	V76D	possibly damaging	Het
Ankib1	A	T	5: 3,750,377 (GRCm39)	Y755*	probably null	Het
Ankrd6	A	G	4: 32,860,411 (GRCm39)	S11P	probably damaging	Het
Card6	T	A	15: 5,128,646 (GRCm39)	K917*	probably null	Het
Ccdc152	T	C	15: 3,330,611 (GRCm39)	I21M	probably damaging	Het
Ccdc40	A	G	11: 119,122,819 (GRCm39)	E207G	possibly damaging	Het
Clca3a2	G	T	3: 144,512,239 (GRCm39)	A499E	probably benign	Het
Cntnap5b	C	T	1: 100,286,394 (GRCm39)	A383V	probably benign	Het
Ddo	T	C	10: 40,509,027 (GRCm39)	V89A	probably damaging	Het
Dlgap1	T	A	17: 71,122,284 (GRCm39)	D904E	probably damaging	Het
Ephb4	T	A	5: 137,370,347 (GRCm39)	L849H	probably damaging	Het
Fbxl13	A	G	5: 21,728,545 (GRCm39)		probably null	Het
Fer1l6	C	A	15: 58,431,081 (GRCm39)	Y245*	probably null	Het
Foxred2	A	G	15: 77,839,964 (GRCm39)	Y109H	probably damaging	Het
Gabarapl1	A	G	6: 129,514,491 (GRCm39)	D43G	probably benign	Het
Gabrb1	A	C	5: 72,187,241 (GRCm39)	E178A	possibly damaging	Het
Gbp11	A	G	5: 105,473,355 (GRCm39)			Het
Grin3b	C	A	10: 79,812,295 (GRCm39)	A845E	probably damaging	Het
Hoxd4	A	G	2: 74,557,705 (GRCm39)	Y28C	probably damaging	Het
Igsf10	G	A	3: 59,237,760 (GRCm39)	T807M	probably benign	Het
Kcnt1	A	G	2: 25,778,767 (GRCm39)		probably null	Het
Kdm5a	C	A	6: 120,375,939 (GRCm39)	T565K	probably damaging	Het
Map7d1	A	G	4: 126,130,475 (GRCm39)	S412P	probably damaging	Het
Mok	A	G	12: 110,800,558 (GRCm39)		probably null	Het
Mto1	A	T	9: 78,381,117 (GRCm39)	I73F	probably damaging	Het
Mtss2	G	A	8: 111,458,796 (GRCm39)	D310N	probably damaging	Het
Ncf2	T	C	1: 152,709,821 (GRCm39)	Y393H	probably damaging	Het
Or13c25	A	T	4: 52,911,459 (GRCm39)	C112S	probably damaging	Het
Or2f1b	T	C	6: 42,739,591 (GRCm39)	S202P	probably damaging	Het
Or2y14	G	T	11: 49,405,369 (GRCm39)	K301N	probably damaging	Het
Or4f47	A	C	2: 111,972,751 (GRCm39)	I154L	probably benign	Het
Or4k49	A	G	2: 111,494,964 (GRCm39)	H131R	possibly damaging	Het
Or52z1	T	C	7: 103,437,452 (GRCm39)	T11A	possibly damaging	Het
Phxr2	T	A	10: 98,961,952 (GRCm39)		probably benign	Het
Potefam3f	A	G	8: 20,499,951 (GRCm39)	K242E	unknown	Het
Rnf17	A	G	14: 56,658,626 (GRCm39)		probably null	Het
Serpinb9d	T	C	13: 33,378,677 (GRCm39)	M41T	probably damaging	Het
Slc12a5	T	A	2: 164,834,384 (GRCm39)		probably null	Het
Slc22a6	G	A	19: 8,599,494 (GRCm39)	R331H	probably benign	Het
Spg11	G	C	2: 121,943,440 (GRCm39)		probably null	Het
Src	T	A	2: 157,299,075 (GRCm39)	V24E	probably benign	Het
Srgap1	A	T	10: 121,761,846 (GRCm39)	Y101N	probably benign	Het
Vmn2r30	T	A	7: 7,337,307 (GRCm39)	T110S	probably benign	Het
Vwa3a	A	G	7: 120,361,646 (GRCm39)	E119G	possibly damaging	Het
Whamm	T	A	7: 81,241,512 (GRCm39)	D274E	probably damaging	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
R2974:Depdc5	UTSW	5	33,091,361 (GRCm39)	critical splice donor 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
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'- GTCTAGGGTTACTGTGACTGAC -3'
(R):5'- CCAAAGGTCTGGTTGTTGCC -3'

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

Posted On

2018-08-17