Mutagenetix > Incidental Mutation

Incidental Mutation 'R4915:Pex6'

380008

Institutional Source

Beutler Lab

Gene Symbol

Pex6

Ensembl Gene

ENSMUSG00000002763

Gene Name

peroxisomal biogenesis factor 6

Synonyms

D130055I09Rik

MMRRC Submission

042517-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.864) question?

Stock #

R4915 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47022402-47036469 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 47024982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 345 (H345L)

Ref Sequence

ENSEMBL: ENSMUSP00000002840 (fasta)

Gene Model

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

AlphaFold

Q99LC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000002840
AA Change: H345L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000002840
Gene: ENSMUSG00000002763
AA Change: H345L

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

noncoding transcript
Transcript: ENSMUST00000127897

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144964

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181301

Meta Mutation Damage Score

0.5406

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 87.9%

Validation Efficiency

98% (162/166)

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: 135 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	T	12: 71,236,420 (GRCm39)	A1257V	possibly damaging	Het
Aldh8a1	T	C	10: 21,271,662 (GRCm39)	S463P	probably damaging	Het
Angptl1	T	G	1: 156,672,388 (GRCm39)	D71E	probably benign	Het
Ank2	T	A	3: 126,736,320 (GRCm39)		probably benign	Het
Ano1	A	G	7: 144,165,112 (GRCm39)	S649P	possibly damaging	Het
Arhgef40	A	G	14: 52,227,556 (GRCm39)	E434G	probably damaging	Het
Asb15	A	T	6: 24,566,292 (GRCm39)	D415V	probably damaging	Het
Baz2b	T	A	2: 59,744,387 (GRCm39)	T1373S	possibly damaging	Het
Bcas1	T	C	2: 170,220,806 (GRCm39)	D324G	probably damaging	Het
Bfsp1	C	T	2: 143,669,391 (GRCm39)	R396Q	probably benign	Het
Bmi1	G	A	2: 18,687,143 (GRCm39)		probably benign	Het
Bpifb9b	T	A	2: 154,156,026 (GRCm39)		probably null	Het
Brd9	A	G	13: 74,086,574 (GRCm39)	E25G	probably damaging	Het
Btbd7	A	T	12: 102,804,046 (GRCm39)	C331*	probably null	Het
Ccdc198	A	T	14: 49,470,351 (GRCm39)	N189K	probably benign	Het
Cdh26	T	C	2: 178,091,614 (GRCm39)	S58P	probably benign	Het
Cenpj	T	C	14: 56,791,175 (GRCm39)	D328G	probably damaging	Het
Cherp	T	C	8: 73,222,241 (GRCm39)	D255G	probably damaging	Het
Clec5a	T	A	6: 40,562,165 (GRCm39)		probably benign	Het
Cntnap2	T	C	6: 46,506,969 (GRCm39)		probably benign	Het
Col7a1	G	A	9: 108,795,532 (GRCm39)	G1529E	unknown	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp2a22	C	A	7: 26,637,195 (GRCm39)	E196D	probably benign	Het
Cyp4f18	T	A	8: 72,762,898 (GRCm39)	H63L	probably damaging	Het
Dclk2	A	T	3: 86,732,049 (GRCm39)		probably null	Het
Ddx6	T	A	9: 44,524,170 (GRCm39)	D82E	probably damaging	Het
Defb42	A	G	14: 63,285,790 (GRCm39)	I57V	probably benign	Het
Dennd5a	A	G	7: 109,500,296 (GRCm39)	F943S	probably damaging	Het
Dip2c	T	A	13: 9,671,905 (GRCm39)		probably null	Het
Disp2	A	T	2: 118,620,935 (GRCm39)	S556C	probably damaging	Het
Dnah12	A	T	14: 26,455,725 (GRCm39)	D816V	probably damaging	Het
Dpy19l3	T	C	7: 35,452,167 (GRCm39)		probably benign	Het
Efcab11	T	C	12: 99,685,321 (GRCm39)	D151G	probably damaging	Het
Ehbp1	T	C	11: 22,096,592 (GRCm39)	D299G	probably benign	Het
Evl	G	T	12: 108,652,365 (GRCm39)	R359L	probably damaging	Het
Fasn	T	G	11: 120,707,472 (GRCm39)	N799T	probably benign	Het
Fbxo3	T	G	2: 103,885,311 (GRCm39)	N388K	probably damaging	Het
Fbxw14	A	T	9: 109,103,592 (GRCm39)	F40Y	possibly damaging	Het
Fbxw22	A	G	9: 109,213,009 (GRCm39)	F313L	probably damaging	Het
Fer1l4	T	C	2: 155,873,220 (GRCm39)	K1287E	probably benign	Het
Fn1	A	T	1: 71,634,968 (GRCm39)		probably null	Het
Fry	A	T	5: 150,402,328 (GRCm39)	T790S	probably benign	Het
Fut8	G	T	12: 77,521,818 (GRCm39)	A486S	probably damaging	Het
Gfra1	A	T	19: 58,255,522 (GRCm39)	S308R	probably damaging	Het
Gm13030	T	A	4: 138,601,239 (GRCm39)		probably benign	Het
Gm37150	C	T	9: 72,292,772 (GRCm39)		noncoding transcript	Het
Gm6788	C	T	19: 28,740,664 (GRCm39)		noncoding transcript	Het
Gm8122	T	C	14: 43,091,573 (GRCm39)	N65S	unknown	Het
Gnb4	C	T	3: 32,639,236 (GRCm39)		probably benign	Het
Gprin1	G	T	13: 54,885,886 (GRCm39)	P796Q	probably damaging	Het
Grin1	A	G	2: 25,188,565 (GRCm39)		probably benign	Het
Helz2	T	C	2: 180,874,231 (GRCm39)	R2088G	possibly damaging	Het
Hsd3b9	C	T	3: 98,357,845 (GRCm39)	V56M	probably damaging	Het
Ighv6-6	C	A	12: 114,398,595 (GRCm39)	R57L	probably damaging	Het
Inhca	A	C	9: 103,129,054 (GRCm39)	Y235*	probably null	Het
Inpp5f	A	T	7: 128,286,840 (GRCm39)	D573V	probably damaging	Het
Iqgap3	T	A	3: 88,008,834 (GRCm39)	I643K	possibly damaging	Het
Itga11	C	A	9: 62,659,530 (GRCm39)	Y427*	probably null	Het
Kbtbd8	T	G	6: 95,103,515 (GRCm39)	M388R	possibly damaging	Het
Kif1a	T	A	1: 93,002,700 (GRCm39)	E233V	probably benign	Het
Krt10	T	C	11: 99,278,334 (GRCm39)	N275S	probably damaging	Het
Lrrc3	T	C	10: 77,737,253 (GRCm39)	D61G	probably benign	Het
Mapk8ip3	A	G	17: 25,128,127 (GRCm39)	S377P	possibly damaging	Het
Mccc1	A	G	3: 36,051,703 (GRCm39)	L32S	probably benign	Het
Meis1	T	C	11: 18,959,222 (GRCm39)		probably benign	Het
Mmp11	C	T	10: 75,761,419 (GRCm39)	A31T	probably damaging	Het
Mthfsl	A	C	9: 88,597,550 (GRCm39)	L67V	probably damaging	Het
Myo1c	T	G	11: 75,547,135 (GRCm39)	M1R	probably null	Het
N4bp2	T	A	5: 65,960,847 (GRCm39)	M506K	probably damaging	Het
Nfix	T	C	8: 85,498,458 (GRCm39)	I172V	probably benign	Het
Nid1	A	G	13: 13,674,171 (GRCm39)	E850G	possibly damaging	Het
Nlrp9c	T	C	7: 26,083,885 (GRCm39)	T565A	probably benign	Het
Nomo1	T	C	7: 45,693,656 (GRCm39)	F163L	probably benign	Het
Nsd1	T	C	13: 55,395,681 (GRCm39)	V1197A	possibly damaging	Het
Nsd1	A	G	13: 55,424,341 (GRCm39)	T1463A	probably benign	Het
Nsf	G	A	11: 103,801,185 (GRCm39)		probably benign	Het
Or3a1b	A	T	11: 74,012,705 (GRCm39)	I197F	probably benign	Het
Or4k51	A	T	2: 111,584,725 (GRCm39)	I44F	probably benign	Het
Or5an1c	A	G	19: 12,218,737 (GRCm39)	V96A	probably benign	Het
Or5b106	T	A	19: 13,123,355 (GRCm39)	I223L	possibly damaging	Het
Or8k33	A	G	2: 86,384,399 (GRCm39)	L23P	probably damaging	Het
Or9g10	T	C	2: 85,584,465 (GRCm39)		probably benign	Het
Pcdha6	T	A	18: 37,101,510 (GRCm39)	D234E	probably damaging	Het
Pcnx1	C	A	12: 82,021,269 (GRCm39)	F1425L	probably benign	Het
Pdzd9	T	G	7: 120,269,391 (GRCm39)	N10T	possibly damaging	Het
Pfkfb3	G	A	2: 11,495,109 (GRCm39)	Q100*	probably null	Het
Pgm2	G	A	5: 64,258,291 (GRCm39)	G92E	probably damaging	Het
Pip4k2c	T	C	10: 127,035,196 (GRCm39)	T391A	possibly damaging	Het
Plcxd2	C	T	16: 45,800,941 (GRCm39)	W94*	probably null	Het
Ppm1k	T	A	6: 57,487,762 (GRCm39)	N354Y	probably damaging	Het
Prkcg	T	G	7: 3,378,781 (GRCm39)	Y624*	probably null	Het
Rabep2	T	C	7: 126,044,094 (GRCm39)	S517P	probably damaging	Het
Rabgap1l	A	G	1: 160,269,412 (GRCm39)	I717T	probably benign	Het
Rasef	A	G	4: 73,649,696 (GRCm39)	C484R	probably damaging	Het
Rdh19	A	G	10: 127,686,113 (GRCm39)	D75G	probably benign	Het
Rpl21-ps10	T	C	3: 38,161,617 (GRCm39)		noncoding transcript	Het
Rsl1d1	A	T	16: 11,017,593 (GRCm39)		probably null	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Rwdd1	T	C	10: 33,885,074 (GRCm39)	D62G	possibly damaging	Het
Scin	T	A	12: 40,119,373 (GRCm39)	I552F	possibly damaging	Het
Scn3a	T	C	2: 65,291,799 (GRCm39)	N1649S	probably damaging	Het
Slc20a2	C	T	8: 23,051,020 (GRCm39)	S351L	probably damaging	Het
Slc24a1	A	T	9: 64,855,213 (GRCm39)	F565I	unknown	Het
Slc4a1	A	G	11: 102,243,279 (GRCm39)	V784A	probably damaging	Het
Slf2	T	G	19: 44,960,100 (GRCm39)	D1022E	probably damaging	Het
Sox6	T	C	7: 115,076,199 (GRCm39)	D814G	probably damaging	Het
Spata4	T	C	8: 55,055,471 (GRCm39)		probably null	Het
Spats2l	A	T	1: 57,941,347 (GRCm39)	K202M	probably damaging	Het
Speer4b	C	T	5: 27,705,134 (GRCm39)	E80K	probably benign	Het
Sqle	T	G	15: 59,193,218 (GRCm39)	Y198*	probably null	Het
Srek1	T	C	13: 103,889,194 (GRCm39)		probably benign	Het
Srek1	T	C	13: 103,889,071 (GRCm39)		probably benign	Het
St14	G	A	9: 31,019,960 (GRCm39)	R50*	probably null	Het
Tcaf1	A	G	6: 42,652,130 (GRCm39)	V784A	probably damaging	Het
Tfr2	C	T	5: 137,581,673 (GRCm39)	R587W	probably damaging	Het
Tmpo	A	G	10: 90,985,411 (GRCm39)	V357A	probably damaging	Het
Trrap	A	T	5: 144,742,545 (GRCm39)	I1101F	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttpal	G	A	2: 163,449,397 (GRCm39)	R84H	probably damaging	Het
Tyk2	T	C	9: 21,022,433 (GRCm39)	T799A	probably benign	Het
Ugt1a10	A	T	1: 87,983,646 (GRCm39)	D148V	probably damaging	Het
Usp29	C	T	7: 6,964,504 (GRCm39)	P116S	probably benign	Het
Usp8	A	T	2: 126,562,060 (GRCm39)	K85*	probably null	Het
Usp9y	C	T	Y: 1,316,735 (GRCm39)	R1938H	probably damaging	Het
Vmn1r90	T	G	7: 14,295,950 (GRCm39)	R49S	possibly damaging	Het
Vmn2r71	C	A	7: 85,270,476 (GRCm39)	N547K	probably damaging	Het
Vps45	T	C	3: 95,926,943 (GRCm39)	T535A	probably damaging	Het
Yars1	A	T	4: 129,104,384 (GRCm39)		probably benign	Het
Zfp114	T	C	7: 23,877,290 (GRCm39)	L44P	probably damaging	Het
Zfp36l2	A	G	17: 84,493,690 (GRCm39)		probably benign	Het
Zfp512	T	C	5: 31,634,209 (GRCm39)	S407P	probably damaging	Het
Zfp574	C	T	7: 24,780,151 (GRCm39)	P391L	probably damaging	Het
Zfp607a	T	G	7: 27,577,985 (GRCm39)	C352G	probably benign	Het
Zfp791	T	A	8: 85,837,580 (GRCm39)	I95L	probably benign	Het
Zfr	A	C	15: 12,162,198 (GRCm39)		probably null	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
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
R8348:Pex6	UTSW	17	47,034,039 (GRCm39)	missense	probably benign
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'- ATGTGGGTACTGGCTGCTAC -3'
(R):5'- TAGAATGTCCCAATTCACCTCAGG -3'

Sequencing Primer
(F):5'- CTGCTACGAGTGTAAAACCTGACTG -3'
(R):5'- ATTCACCTCAGGCTTACTCCAAGG -3'

Posted On

2016-04-15