Mutagenetix > Incidental Mutation

Incidental Mutation 'R8348:Pex6'

660463

Institutional Source

Beutler Lab

Gene Symbol

Pex6

Ensembl Gene

ENSMUSG00000002763

Gene Name

peroxisomal biogenesis factor 6

Synonyms

D130055I09Rik

MMRRC Submission

067732-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.858) question?

Stock #

R8348 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47022402-47036469 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47034039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 656 (S656P)

Ref Sequence

ENSEMBL: ENSMUSP00000002840 (fasta)

Gene Model

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

AlphaFold

Q99LC9

Predicted Effect

probably benign
Transcript: ENSMUST00000002840
AA Change: S656P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000002840
Gene: ENSMUSG00000002763
AA Change: S656P

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (59/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C10Rik	A	G	7: 37,894,384 (GRCm39)	Y139C	possibly damaging	Het
A430033K04Rik	A	G	5: 138,634,514 (GRCm39)	D43G	probably damaging	Het
Actn3	C	A	19: 4,915,361 (GRCm39)	V464L	possibly damaging	Het
Adamts15	C	T	9: 30,813,846 (GRCm39)	R773Q	probably benign	Het
Angpt2	G	A	8: 18,791,135 (GRCm39)	R54*	probably null	Het
Arhgef28	G	T	13: 98,190,375 (GRCm39)	P195T	possibly damaging	Het
Axdnd1	A	T	1: 156,245,854 (GRCm39)	D107E	probably benign	Het
Cdh23	C	T	10: 60,167,507 (GRCm39)	V1828M	probably benign	Het
Cep95	A	G	11: 106,704,593 (GRCm39)	T440A	possibly damaging	Het
Ctdp1	G	A	18: 80,493,325 (GRCm39)	A390V	probably benign	Het
Desi2	T	A	1: 178,083,906 (GRCm39)		probably benign	Het
Dnah2	A	T	11: 69,320,273 (GRCm39)	M3932K	possibly damaging	Het
Dnah8	A	T	17: 30,955,121 (GRCm39)	Q2050L	probably damaging	Het
Etnppl	T	A	3: 130,423,141 (GRCm39)	M274K	probably benign	Het
Farp2	G	T	1: 93,504,614 (GRCm39)		probably null	Het
Fbxo46	G	A	7: 18,870,469 (GRCm39)	G363R	probably damaging	Het
Fiz1	A	G	7: 5,015,909 (GRCm39)	V27A	probably benign	Het
Fndc3b	T	A	3: 27,494,144 (GRCm39)	M994L	probably benign	Het
G3bp1	T	G	11: 55,389,457 (GRCm39)	D384E	possibly damaging	Het
Galnt2	C	T	8: 125,061,025 (GRCm39)	R306*	probably null	Het
Gle1	T	C	2: 29,832,556 (GRCm39)	Y304H	possibly damaging	Het
Gm3415	G	A	5: 146,493,407 (GRCm39)	R84H	probably benign	Het
Gm7694	A	C	1: 170,129,209 (GRCm39)	S107A	possibly damaging	Het
Gpc6	A	G	14: 117,673,232 (GRCm39)	D163G	probably damaging	Het
Gtpbp6	G	A	5: 110,251,892 (GRCm39)	H514Y	possibly damaging	Het
Hdgfl2	A	G	17: 56,406,370 (GRCm39)	E595G	possibly damaging	Het
Hoxc11	G	A	15: 102,863,186 (GRCm39)	G76S	possibly damaging	Het
Hoxc4	T	C	15: 102,943,440 (GRCm39)	C98R	possibly damaging	Het
Hydin	A	T	8: 111,329,878 (GRCm39)	I4871F	possibly damaging	Het
Ifnar1	A	G	16: 91,292,187 (GRCm39)	D176G	probably benign	Het
Inafm1	A	G	7: 16,007,055 (GRCm39)	I54T	probably damaging	Het
Inpp5b	G	A	4: 124,678,967 (GRCm39)	G458D	probably damaging	Het
Irs2	A	T	8: 11,054,974 (GRCm39)	S1153T	probably damaging	Het
Kcnj15	A	G	16: 95,096,609 (GRCm39)	Y77C	probably damaging	Het
Klhl35	C	A	7: 99,121,062 (GRCm39)	D10E	probably damaging	Het
Lef1	A	T	3: 130,906,461 (GRCm39)	M1L	probably benign	Het
Lima1	T	C	15: 99,678,753 (GRCm39)	T403A	probably benign	Het
Magi3	T	A	3: 103,958,531 (GRCm39)	N518I	probably damaging	Het
Mcoln3	T	C	3: 145,836,974 (GRCm39)	C269R	probably damaging	Het
Mis18a	A	T	16: 90,523,919 (GRCm39)	L81*	probably null	Het
Mug2	A	T	6: 122,049,192 (GRCm39)	K903*	probably null	Het
Nhsl3	G	A	4: 129,117,699 (GRCm39)	R322C	probably damaging	Het
Pgr	C	A	9: 8,922,602 (GRCm39)	Q591K	probably benign	Het
Phactr3	T	C	2: 177,897,935 (GRCm39)	S50P	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Sipa1l1	T	A	12: 82,443,045 (GRCm39)	N778K	probably benign	Het
Slc22a6	C	G	19: 8,599,169 (GRCm39)	R267G	probably damaging	Het
Slc5a7	A	G	17: 54,583,655 (GRCm39)	V545A	possibly damaging	Het
Snf8	A	G	11: 95,925,877 (GRCm39)	K13R	probably benign	Het
St3gal1	G	A	15: 66,985,511 (GRCm39)	R48C	probably damaging	Het
Tacc2	A	C	7: 130,225,019 (GRCm39)	K568T	possibly damaging	Het
Tnxb	C	A	17: 34,929,102 (GRCm39)	T2715K	possibly damaging	Het
Vegfb	T	C	19: 6,962,856 (GRCm39)	I140V	probably benign	Het
Vmn2r89	A	C	14: 51,692,548 (GRCm39)	D117A	possibly damaging	Het
Vps13c	C	T	9: 67,786,385 (GRCm39)	T284I	possibly damaging	Het
Wnk1	T	C	6: 119,906,960 (GRCm39)		probably null	Het
Wscd2	T	A	5: 113,710,371 (GRCm39)	H298Q	possibly damaging	Het
Zfp69	A	T	4: 120,787,834 (GRCm39)	C494S	probably damaging	Het
Zfp715	T	C	7: 42,949,361 (GRCm39)	T200A	possibly damaging	Het

Other mutations in Pex6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01478:Pex6	APN	17	47,036,230 (GRCm39)	missense	probably benign	0.00
IGL01601:Pex6	APN	17	47,034,650 (GRCm39)	missense	probably damaging	1.00
IGL01710:Pex6	APN	17	47,036,252 (GRCm39)	unclassified	probably benign
IGL02392:Pex6	APN	17	47,034,425 (GRCm39)	missense	probably damaging	1.00
IGL02419:Pex6	APN	17	47,035,361 (GRCm39)	missense	possibly damaging	0.69
G5030:Pex6	UTSW	17	47,026,382 (GRCm39)	intron	probably benign
R0091:Pex6	UTSW	17	47,022,844 (GRCm39)	missense	probably damaging	1.00
R0243:Pex6	UTSW	17	47,034,663 (GRCm39)	critical splice donor site	probably null
R0732:Pex6	UTSW	17	47,035,626 (GRCm39)	missense	probably damaging	1.00
R1529:Pex6	UTSW	17	47,024,990 (GRCm39)	missense	probably benign	0.10
R1602:Pex6	UTSW	17	47,023,063 (GRCm39)	missense	probably benign	0.09
R1638:Pex6	UTSW	17	47,033,558 (GRCm39)	missense	probably benign
R1757:Pex6	UTSW	17	47,034,424 (GRCm39)	missense	probably damaging	1.00
R3769:Pex6	UTSW	17	47,035,311 (GRCm39)	splice site	probably null
R4684:Pex6	UTSW	17	47,023,027 (GRCm39)	missense	probably benign	0.01
R4731:Pex6	UTSW	17	47,035,633 (GRCm39)	splice site	probably null
R4731:Pex6	UTSW	17	47,033,214 (GRCm39)	missense	probably benign	0.02
R4732:Pex6	UTSW	17	47,033,214 (GRCm39)	missense	probably benign	0.02
R4732:Pex6	UTSW	17	47,035,633 (GRCm39)	splice site	probably null
R4733:Pex6	UTSW	17	47,035,633 (GRCm39)	splice site	probably null
R4733:Pex6	UTSW	17	47,033,214 (GRCm39)	missense	probably benign	0.02
R4915:Pex6	UTSW	17	47,024,982 (GRCm39)	missense	probably damaging	0.96
R5996:Pex6	UTSW	17	47,025,384 (GRCm39)	splice site	probably null
R6156:Pex6	UTSW	17	47,031,567 (GRCm39)	missense	probably benign	0.02
R6227:Pex6	UTSW	17	47,023,034 (GRCm39)	missense	probably benign	0.00
R7054:Pex6	UTSW	17	47,031,447 (GRCm39)	missense	probably benign
R7635:Pex6	UTSW	17	47,034,943 (GRCm39)	missense	probably damaging	1.00
R8034:Pex6	UTSW	17	47,033,325 (GRCm39)	missense	possibly damaging	0.67
R8177:Pex6	UTSW	17	47,024,988 (GRCm39)	missense	probably benign
R8330:Pex6	UTSW	17	47,023,060 (GRCm39)	missense	possibly damaging	0.55
R8695:Pex6	UTSW	17	47,022,975 (GRCm39)	missense	probably damaging	0.97
R9263:Pex6	UTSW	17	47,023,231 (GRCm39)	missense	probably benign	0.16
R9428:Pex6	UTSW	17	47,022,991 (GRCm39)	missense	probably benign
R9600:Pex6	UTSW	17	47,035,322 (GRCm39)	missense	probably damaging	1.00
Z1088:Pex6	UTSW	17	47,023,148 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- GTTAGAGCCTTAATCCATACCCTG -3'
(R):5'- GTCAGCAGAGAAAGCCCTTG -3'

Sequencing Primer
(F):5'- AGAGCCTTAATCCATACCCTGATTGG -3'
(R):5'- GAGAAAGCCCTTGCCCCC -3'

Posted On

2021-01-18