Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02537:Depdc5'

297573

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Depdc5

Ensembl Gene

ENSMUSG00000037426

Gene Name

DEP domain containing 5

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02537

Quality Score

Status

Chromosome

Chromosomal Location

33021045-33151580 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33125131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 531 (L531Q)

Ref Sequence

ENSEMBL: ENSMUSP00000120120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087897] [ENSMUST00000119705] [ENSMUST00000120902] [ENSMUST00000124780] [ENSMUST00000130461]

AlphaFold

P61460

Predicted Effect

probably damaging
Transcript: ENSMUST00000087897
AA Change: L1178Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000085207
Gene: ENSMUSG00000037426
AA Change: L1178Q

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 damaging
Transcript: ENSMUST00000119705
AA Change: L1169Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113862
Gene: ENSMUSG00000037426
AA Change: L1169Q

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 damaging
Transcript: ENSMUST00000120902
AA Change: L1147Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113980
Gene: ENSMUSG00000037426
AA Change: L1147Q

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 damaging
Transcript: ENSMUST00000124780
AA Change: L531Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120120
Gene: ENSMUSG00000037426
AA Change: L531Q

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

noncoding transcript
Transcript: ENSMUST00000127560

Predicted Effect

probably benign
Transcript: ENSMUST00000130461

SMART Domains

Protein: ENSMUSP00000118681
Gene: ENSMUSG00000037426

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

Predicted Effect

unknown
Transcript: ENSMUST00000137169
AA Change: L553Q

SMART Domains

Protein: ENSMUSP00000121089
Gene: ENSMUSG00000037426
AA Change: L553Q

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

Coding Region Coverage

Validation Efficiency

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Alx3	T	A	3: 107,512,175 (GRCm39)	M271K	possibly damaging	Het
Ank2	T	C	3: 126,749,565 (GRCm39)	E488G	probably damaging	Het
Arsk	T	A	13: 76,223,025 (GRCm39)	R191*	probably null	Het
B230217C12Rik	T	C	11: 97,733,011 (GRCm39)	S111P	possibly damaging	Het
Bckdhb	A	G	9: 83,871,194 (GRCm39)	I158V	probably benign	Het
Bub1	G	A	2: 127,643,267 (GRCm39)	Q1026*	probably null	Het
C8a	A	G	4: 104,703,148 (GRCm39)	M303T	probably damaging	Het
Cftr	A	G	6: 18,274,596 (GRCm39)	T905A	probably benign	Het
Ciao3	C	T	17: 25,997,916 (GRCm39)		probably benign	Het
Col14a1	A	T	15: 55,208,310 (GRCm39)	K132*	probably null	Het
Dzip1	G	A	14: 119,146,988 (GRCm39)		probably benign	Het
F5	C	A	1: 164,020,686 (GRCm39)	L1054I	probably benign	Het
Gm4353	A	T	7: 115,682,987 (GRCm39)	I198N	probably damaging	Het
Il1a	T	A	2: 129,150,996 (GRCm39)	E9V	probably damaging	Het
Irag1	A	T	7: 110,470,680 (GRCm39)	Y678*	probably null	Het
Kif15	A	G	9: 122,822,914 (GRCm39)	T432A	probably benign	Het
Kndc1	T	C	7: 139,490,326 (GRCm39)	V276A	probably benign	Het
Or2aj5	A	T	16: 19,424,549 (GRCm39)	Y290N	probably damaging	Het
Or4a74	A	C	2: 89,439,739 (GRCm39)	S236A	possibly damaging	Het
Or6n2	A	T	1: 173,897,020 (GRCm39)	D52V	possibly damaging	Het
Palld	T	C	8: 62,137,968 (GRCm39)	S596G	probably benign	Het
Pdc	A	T	1: 150,208,760 (GRCm39)	D81V	possibly damaging	Het
Plcd4	A	G	1: 74,595,209 (GRCm39)	K361R	possibly damaging	Het
Plekhm1	T	A	11: 103,288,018 (GRCm39)	D43V	probably damaging	Het
Prpf31	G	T	7: 3,641,750 (GRCm39)	G356C	probably damaging	Het
Rbpj	T	A	5: 53,799,485 (GRCm39)	I100K	probably damaging	Het
Rufy3	A	G	5: 88,788,521 (GRCm39)		probably benign	Het
Slc40a1	C	T	1: 45,950,553 (GRCm39)	V300I	probably benign	Het
Slc6a12	A	T	6: 121,337,473 (GRCm39)	I386F	probably benign	Het
Strip1	C	T	3: 107,524,210 (GRCm39)	R569H	possibly damaging	Het
Tep1	A	T	14: 51,073,570 (GRCm39)	D1996E	probably damaging	Het
Tmem68	A	G	4: 3,569,649 (GRCm39)	S14P	possibly damaging	Het
Trav12-1	C	A	14: 53,775,980 (GRCm39)	C44*	probably null	Het
Uba1	G	A	X: 20,544,902 (GRCm39)	R693H	possibly damaging	Het
Ugt2b38	T	C	5: 87,569,590 (GRCm39)	T246A	possibly damaging	Het
Usp24	A	G	4: 106,249,564 (GRCm39)	Y1427C	probably damaging	Het
Vmn2r78	A	T	7: 86,603,496 (GRCm39)	Y558F	probably damaging	Het
Wdr54	A	G	6: 83,130,372 (GRCm39)	W221R	possibly damaging	Het
Xpo4	T	C	14: 57,831,290 (GRCm39)	T773A	probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zfp518a	T	A	19: 40,903,874 (GRCm39)	S1268T	probably benign	Het
Znfx1	T	C	2: 166,898,087 (GRCm39)	D279G	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
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
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

Posted On

2015-04-16