Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02419:Pex6'

292568

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pex6

Ensembl Gene

ENSMUSG00000002763

Gene Name

peroxisomal biogenesis factor 6

Synonyms

D130055I09Rik

Accession Numbers

Genbank: NM_145488; Ensembl: ENSMUSP00000002840

Is this an essential gene?

Possibly essential (E-score: 0.749) question?

Stock #

IGL02419

Quality Score

Status

Chromosome

Chromosomal Location

46711463-46725541 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 46724435 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 840 (T840N)

Ref Sequence

ENSEMBL: ENSMUSP00000002840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002840] [ENSMUST00000002846]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002840
AA Change: T840N

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000002840
Gene: ENSMUSG00000002763
AA Change: T840N

Domain	Start	End	E-Value	Type
low complexity region	17	31	N/A	INTRINSIC
low complexity region	72	86	N/A	INTRINSIC
low complexity region	87	104	N/A	INTRINSIC
low complexity region	112	128	N/A	INTRINSIC
low complexity region	173	200	N/A	INTRINSIC
AAA	463	598	6.1e-7	SMART
AAA	737	875	6e-24	SMART
Blast:AAA	928	973	1e-14	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000002846

SMART Domains

Protein: ENSMUSP00000002846
Gene: ENSMUSG00000002769

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_23	27	217	9e-11	PFAM
Pfam:Methyltransf_31	56	224	1.3e-15	PFAM
Pfam:Methyltransf_18	57	176	1.5e-15	PFAM
Pfam:Methyltransf_25	61	169	1.4e-10	PFAM
Pfam:Methyltransf_12	62	171	4e-12	PFAM
Pfam:Methyltransf_11	62	173	2.4e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144964

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148872

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181301

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 AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	T	C	8: 87,586,099	F171L	possibly damaging	Het
Abca2	A	G	2: 25,446,837	N2291D	probably benign	Het
Adamts9	A	G	6: 92,796,997	V1145A	probably benign	Het
Adcy2	A	G	13: 68,982,363	V135A	probably benign	Het
Akr1c14	A	T	13: 4,080,617		probably null	Het
Aptx	G	T	4: 40,691,032	A229E	probably benign	Het
Ash1l	T	C	3: 88,985,565	S1584P	probably benign	Het
Catsper3	A	T	13: 55,808,068	T329S	possibly damaging	Het
Cntrl	A	G	2: 35,134,043	D27G	probably damaging	Het
Cobll1	A	T	2: 65,151,048	I98K	probably damaging	Het
Ctdp1	T	C	18: 80,420,584	K79R	probably damaging	Het
Cwf19l2	T	C	9: 3,418,777		probably null	Het
Cyp11b2	A	T	15: 74,851,055	F498Y	probably damaging	Het
Dnpep	A	G	1: 75,315,688	I162T	probably damaging	Het
Efcab9	T	C	11: 32,522,950	I166V	probably benign	Het
Ep400	A	T	5: 110,697,376		probably null	Het
Gata6	G	A	18: 11,054,220	G50R	probably damaging	Het
Gm9631	G	A	11: 121,943,652			Het
Grifin	T	C	5: 140,564,700	T20A	probably benign	Het
Hnf4a	A	T	2: 163,566,282	I352F	probably damaging	Het
Ifi204	T	C	1: 173,749,380	T552A	possibly damaging	Het
Ifi205	C	T	1: 174,017,614	A201T	probably damaging	Het
Kcnk6	A	G	7: 29,225,202	V259A	probably benign	Het
Kif21b	A	G	1: 136,151,267	N451S	probably benign	Het
Klhl24	T	A	16: 20,107,368	Y215*	probably null	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Mical1	A	G	10: 41,482,277	K429E	possibly damaging	Het
Misp	A	G	10: 79,827,871		probably benign	Het
Mon2	T	C	10: 123,016,447	N1007S	probably benign	Het
Olfr1420	A	T	19: 11,896,822	Y267F	probably benign	Het
Olfr228	T	A	2: 86,482,915	I276F	probably damaging	Het
Olfr307	C	A	7: 86,335,662	V245F	probably damaging	Het
Olfr624	A	T	7: 103,670,475	C185*	probably null	Het
Prox1	C	T	1: 190,161,130	A373T	probably benign	Het
Rapgef3	G	T	15: 97,750,290	N679K	probably benign	Het
Serpina3n	T	C	12: 104,413,518	V390A	possibly damaging	Het
Sirpb1a	A	G	3: 15,426,338	F23S	probably benign	Het
Slc44a3	T	C	3: 121,490,257	T449A	probably benign	Het
Smad6	G	A	9: 63,953,518		probably benign	Het
Sos2	C	T	12: 69,616,990	M573I	probably benign	Het
St8sia1	A	T	6: 142,828,935	I306N	probably damaging	Het
Tnks1bp1	T	C	2: 85,071,781	S1674P	possibly damaging	Het
Trim47	G	A	11: 116,106,201	R576W	probably damaging	Het
Wdr86	A	T	5: 24,722,704	I79N	probably damaging	Het
Wwp2	T	A	8: 107,549,815	V473D	probably damaging	Het
Zc3h12a	T	C	4: 125,119,788	T428A	probably benign	Het
Zfp592	A	G	7: 81,038,245	E973G	probably damaging	Het

Other mutations in Pex6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01478:Pex6	APN	17	46725304	missense	probably benign	0.00
IGL01601:Pex6	APN	17	46723724	missense	probably damaging	1.00
IGL01710:Pex6	APN	17	46725326	unclassified	probably benign
IGL02392:Pex6	APN	17	46723499	missense	probably damaging	1.00
G5030:Pex6	UTSW	17	46715456	intron	probably benign
R0091:Pex6	UTSW	17	46711918	missense	probably damaging	1.00
R0243:Pex6	UTSW	17	46723737	critical splice donor site	probably null
R0732:Pex6	UTSW	17	46724700	missense	probably damaging	1.00
R1529:Pex6	UTSW	17	46714064	missense	probably benign	0.10
R1602:Pex6	UTSW	17	46712137	missense	probably benign	0.09
R1638:Pex6	UTSW	17	46722632	missense	probably benign
R1757:Pex6	UTSW	17	46723498	missense	probably damaging	1.00
R3769:Pex6	UTSW	17	46724385	splice site	probably null
R4684:Pex6	UTSW	17	46712101	missense	probably benign	0.01
R4731:Pex6	UTSW	17	46722288	missense	probably benign	0.02
R4731:Pex6	UTSW	17	46724707	splice site	probably null
R4732:Pex6	UTSW	17	46724707	splice site	probably null
R4732:Pex6	UTSW	17	46722288	missense	probably benign	0.02
R4733:Pex6	UTSW	17	46722288	missense	probably benign	0.02
R4733:Pex6	UTSW	17	46724707	splice site	probably null
R4915:Pex6	UTSW	17	46714056	missense	probably damaging	0.96
R5996:Pex6	UTSW	17	46714458	splice site	probably null
R6156:Pex6	UTSW	17	46720641	missense	probably benign	0.02
R6227:Pex6	UTSW	17	46712108	missense	probably benign	0.00
R7054:Pex6	UTSW	17	46720521	missense	probably benign
R7635:Pex6	UTSW	17	46724017	missense	probably damaging	1.00
R8034:Pex6	UTSW	17	46722399	missense	possibly damaging	0.67
R8177:Pex6	UTSW	17	46714062	missense	probably benign
R8330:Pex6	UTSW	17	46712134	missense	possibly damaging	0.55
R8348:Pex6	UTSW	17	46723113	missense	probably benign
R8695:Pex6	UTSW	17	46712049	missense	probably damaging	0.97
Z1088:Pex6	UTSW	17	46712222	missense	possibly damaging	0.87

Posted On

2015-04-16