Mutagenetix > Incidental Mutation

Incidental Mutation 'R0243:Pex6'

215995

Institutional Source

Beutler Lab

Gene Symbol

Pex6

Ensembl Gene

ENSMUSG00000002763

Gene Name

peroxisomal biogenesis factor 6

Synonyms

D130055I09Rik

MMRRC Submission

038481-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.858) question?

Stock #

R0243 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

47022402-47036469 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 47034663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000002840 (fasta)

Gene Model

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

AlphaFold

Q99LC9

Predicted Effect

probably null
Transcript: ENSMUST00000002840

SMART Domains

Protein: ENSMUSP00000002840
Gene: ENSMUSG00000002763

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 null
Transcript: ENSMUST00000002840

SMART Domains

Protein: ENSMUSP00000002840
Gene: ENSMUSG00000002763

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.0%

Validation Efficiency

98% (148/151)

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: 139 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	G	5: 64,055,806 (GRCm39)	Y181D	probably benign	Het
1700029H14Rik	A	G	8: 13,604,715 (GRCm39)	V196A	possibly damaging	Het
2410004B18Rik	A	G	3: 145,643,833 (GRCm39)	D7G	probably damaging	Het
Acap1	A	G	11: 69,776,252 (GRCm39)	V249A	probably damaging	Het
Acat2	A	T	17: 13,162,908 (GRCm39)	D313E	probably benign	Het
Actn4	T	C	7: 28,604,823 (GRCm39)	T325A	probably benign	Het
Adamdec1	C	T	14: 68,819,407 (GRCm39)		probably null	Het
Adat2	A	G	10: 13,429,037 (GRCm39)	T10A	probably benign	Het
Aff4	T	A	11: 53,288,685 (GRCm39)	S400R	possibly damaging	Het
Agbl2	C	T	2: 90,621,825 (GRCm39)	P104L	possibly damaging	Het
Alox12	G	T	11: 70,133,542 (GRCm39)	T594K	possibly damaging	Het
Als2	C	A	1: 59,254,546 (GRCm39)	K270N	probably benign	Het
Ankhd1	T	A	18: 36,767,787 (GRCm39)	C1235S	probably damaging	Het
Ankrd24	T	A	10: 81,470,778 (GRCm39)	I69N	probably damaging	Het
Aox4	G	A	1: 58,252,235 (GRCm39)	V37I	probably benign	Het
Arfgap3	A	G	15: 83,214,714 (GRCm39)		probably benign	Het
Arhgef4	T	A	1: 34,846,080 (GRCm39)		probably null	Het
Asic1	C	T	15: 99,596,498 (GRCm39)		probably benign	Het
Atp8b5	A	G	4: 43,366,057 (GRCm39)	N776S	probably benign	Het
Bbs7	A	G	3: 36,659,883 (GRCm39)	I184T	probably benign	Het
Bbs9	A	T	9: 22,425,297 (GRCm39)	H117L	probably damaging	Het
Bnip2	T	C	9: 69,902,787 (GRCm39)	W10R	probably damaging	Het
Brd4	G	T	17: 32,443,097 (GRCm39)	Q175K	probably benign	Het
Bysl	A	T	17: 47,917,821 (GRCm39)	V124E	possibly damaging	Het
Cadm3	A	G	1: 173,174,140 (GRCm39)		probably benign	Het
Cc2d2a	T	C	5: 43,853,980 (GRCm39)		probably benign	Het
Ccdc134	G	T	15: 82,025,147 (GRCm39)	E215D	probably damaging	Het
Celsr3	G	T	9: 108,720,923 (GRCm39)		probably benign	Het
Cntn5	T	A	9: 9,781,780 (GRCm39)	D428V	probably damaging	Het
Cog1	A	G	11: 113,547,821 (GRCm39)		probably benign	Het
Col11a2	G	T	17: 34,281,520 (GRCm39)		probably benign	Het
Cyp4f13	G	A	17: 33,143,943 (GRCm39)		probably benign	Het
Dffb	T	A	4: 154,049,835 (GRCm39)	K343*	probably null	Het
Dnah9	T	A	11: 65,802,678 (GRCm39)	I224F	possibly damaging	Het
Dolk	A	T	2: 30,176,031 (GRCm39)	C5S	probably benign	Het
Dynlt2b	A	G	16: 32,245,705 (GRCm39)	D118G	probably damaging	Het
Ebf1	A	T	11: 44,759,915 (GRCm39)		probably benign	Het
Elac1	A	G	18: 73,875,434 (GRCm39)	L199P	probably damaging	Het
Elmod1	A	C	9: 53,842,831 (GRCm39)		probably benign	Het
Ep400	A	C	5: 110,872,273 (GRCm39)		probably benign	Het
F10	A	T	8: 13,098,196 (GRCm39)	N133I	probably damaging	Het
Fasn	A	G	11: 120,706,141 (GRCm39)	Y1068H	probably benign	Het
Fbxo24	T	C	5: 137,622,819 (GRCm39)	E12G	probably damaging	Het
Fer	G	T	17: 64,385,941 (GRCm39)	L304F	probably benign	Het
Filip1	A	C	9: 79,726,285 (GRCm39)	L778R	probably damaging	Het
Fli1	A	T	9: 32,335,277 (GRCm39)	I385N	probably benign	Het
Fpgs	A	T	2: 32,582,506 (GRCm39)	L89*	probably null	Het
Gab2	T	G	7: 96,948,448 (GRCm39)	I346R	probably damaging	Het
Gm10764	G	A	10: 87,126,841 (GRCm39)	G83R	unknown	Het
Gpr83	G	T	9: 14,776,138 (GRCm39)	C153F	possibly damaging	Het
Gtf3c3	A	G	1: 54,442,695 (GRCm39)	L783P	possibly damaging	Het
Gys2	A	G	6: 142,418,394 (GRCm39)		probably benign	Het
Heatr9	C	T	11: 83,404,164 (GRCm39)	V378I	possibly damaging	Het
Helz	A	T	11: 107,528,740 (GRCm39)	Y920F	possibly damaging	Het
Inpp5f	A	T	7: 128,296,907 (GRCm39)	Q459L	probably damaging	Het
Ints12	T	C	3: 132,814,806 (GRCm39)	S338P	probably benign	Het
Kif13a	T	C	13: 46,944,827 (GRCm39)	T925A	probably benign	Het
Kif1a	C	T	1: 92,969,815 (GRCm39)	V1051I	probably damaging	Het
Kif7	T	A	7: 79,349,308 (GRCm39)	H1119L	possibly damaging	Het
Kmt2d	C	T	15: 98,748,018 (GRCm39)		probably benign	Het
Krt90	C	T	15: 101,471,110 (GRCm39)	G51S	possibly damaging	Het
Krtap31-2	A	T	11: 99,827,572 (GRCm39)	I135F	possibly damaging	Het
Lrp2	T	C	2: 69,258,974 (GRCm39)	E4572G	probably benign	Het
Mapk8ip1	T	C	2: 92,216,289 (GRCm39)	E493G	probably damaging	Het
Matk	T	G	10: 81,094,326 (GRCm39)	L28V	probably benign	Het
Mcc	T	A	18: 44,892,366 (GRCm39)	T83S	probably benign	Het
Mtch1	A	T	17: 29,559,080 (GRCm39)	M204K	possibly damaging	Het
Muc4	T	G	16: 32,586,120 (GRCm39)	C2622G	possibly damaging	Het
Myo5a	G	A	9: 75,093,405 (GRCm39)		probably null	Het
Myoz3	T	C	18: 60,712,023 (GRCm39)	Y185C	probably damaging	Het
Nnmt	A	G	9: 48,503,438 (GRCm39)	V196A	probably benign	Het
Nr2f2	G	C	7: 70,009,923 (GRCm39)	P52R	probably damaging	Het
Nup214	T	A	2: 31,888,069 (GRCm39)		probably benign	Het
Or2aj4	T	G	16: 19,385,044 (GRCm39)	E196D	probably damaging	Het
Or2y13	T	C	11: 49,414,739 (GRCm39)	L63P	probably damaging	Het
Or4c126	T	A	2: 89,824,150 (GRCm39)	F138I	probably benign	Het
Pank3	T	C	11: 35,672,543 (GRCm39)		probably benign	Het
Parm1	A	T	5: 91,742,153 (GRCm39)	N174Y	possibly damaging	Het
Pcgf2	A	T	11: 97,583,244 (GRCm39)		probably null	Het
Pclo	A	T	5: 14,825,434 (GRCm39)	K4661M	unknown	Het
Pcsk7	A	C	9: 45,827,357 (GRCm39)	S375R	probably damaging	Het
Pdzrn4	G	T	15: 92,668,200 (GRCm39)	S784I	possibly damaging	Het
Pi4ka	C	T	16: 17,115,499 (GRCm39)	V1384M	probably benign	Het
Polr3f	T	A	2: 144,378,195 (GRCm39)		probably benign	Het
Ppp2r3d	A	T	9: 101,089,483 (GRCm39)	V280E	probably damaging	Het
Prdm14	C	T	1: 13,192,672 (GRCm39)	G356R	probably damaging	Het
Prepl	A	G	17: 85,372,466 (GRCm39)		probably null	Het
Primpol	T	C	8: 47,052,849 (GRCm39)	D154G	probably damaging	Het
Ptchd4	A	C	17: 42,814,307 (GRCm39)	H736P	probably damaging	Het
Rab11fip1	A	G	8: 27,642,253 (GRCm39)	S849P	probably damaging	Het
Rap1gap	T	A	4: 137,446,662 (GRCm39)	D405E	probably damaging	Het
Rbm26	T	C	14: 105,369,374 (GRCm39)	T686A	probably benign	Het
Resf1	T	C	6: 149,227,739 (GRCm39)	Y262H	probably damaging	Het
Rint1	A	G	5: 24,021,930 (GRCm39)		probably benign	Het
Rnasek	G	T	11: 70,129,266 (GRCm39)	Y62*	probably null	Het
Rnf17	T	G	14: 56,719,541 (GRCm39)	N930K	possibly damaging	Het
Sap130	A	G	18: 31,813,734 (GRCm39)		probably benign	Het
Sectm1b	T	A	11: 120,946,611 (GRCm39)	I95F	probably damaging	Het
Sema4f	A	T	6: 82,916,447 (GRCm39)	I53N	possibly damaging	Het
Shld1	T	C	2: 132,592,559 (GRCm39)	V202A	probably benign	Het
Siglec1	T	C	2: 130,927,396 (GRCm39)	T137A	probably damaging	Het
Six5	A	C	7: 18,830,947 (GRCm39)		probably null	Het
Slc22a30	A	T	19: 8,322,721 (GRCm39)	I345N	probably benign	Het
Slc25a27	A	T	17: 43,954,518 (GRCm39)	M316K	probably benign	Het
Slc2a8	A	T	2: 32,870,116 (GRCm39)		probably benign	Het
Snx1	G	A	9: 66,008,608 (GRCm39)		probably benign	Het
Spag17	A	G	3: 99,992,684 (GRCm39)	T1727A	probably benign	Het
Spata20	T	C	11: 94,372,472 (GRCm39)	D633G	probably benign	Het
Spock1	C	T	13: 57,583,922 (GRCm39)		probably null	Het
Sra1	A	T	18: 36,808,759 (GRCm39)	Y291*	probably null	Het
Sspo	C	A	6: 48,470,120 (GRCm39)	P4520T	probably damaging	Het
Stat4	A	G	1: 52,051,016 (GRCm39)	N25S	probably benign	Het
Tbx18	A	T	9: 87,597,569 (GRCm39)		probably benign	Het
Tep1	T	A	14: 51,084,444 (GRCm39)	I187F	probably damaging	Het
Tfap2b	A	T	1: 19,304,347 (GRCm39)	I368F	probably damaging	Het
Tmtc1	A	T	6: 148,148,335 (GRCm39)	L711Q	probably damaging	Het
Tmx3	T	A	18: 90,556,613 (GRCm39)		probably benign	Het
Tnc	G	T	4: 63,888,657 (GRCm39)	T1803K	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tpgs1	C	T	10: 79,511,700 (GRCm39)	P281S	probably benign	Het
Trim45	A	G	3: 100,837,160 (GRCm39)	R499G	probably benign	Het
Tulp3	A	T	6: 128,302,921 (GRCm39)	Y299*	probably null	Het
Ube4a	A	T	9: 44,857,476 (GRCm39)		probably benign	Het
Ubr3	T	G	2: 69,781,749 (GRCm39)	S642R	probably damaging	Het
Vcpip1	A	T	1: 9,817,431 (GRCm39)	Y317*	probably null	Het
Vmn1r115	G	A	7: 20,578,327 (GRCm39)	T195I	probably benign	Het
Vmn1r226	G	A	17: 20,907,839 (GRCm39)	V24I	probably benign	Het
Wdr41	C	T	13: 95,153,914 (GRCm39)	A321V	probably damaging	Het
Wfdc5	T	C	2: 164,020,755 (GRCm39)	N44D	probably benign	Het
Wnt7b	C	A	15: 85,443,103 (GRCm39)		probably null	Het
Zfp108	T	C	7: 23,961,208 (GRCm39)	S600P	possibly damaging	Het
Zfp267	A	G	3: 36,219,303 (GRCm39)	H442R	possibly damaging	Het
Zfp385b	A	G	2: 77,246,072 (GRCm39)		probably null	Het
Zfp395	T	C	14: 65,623,929 (GRCm39)	S133P	probably benign	Het
Zfp407	T	A	18: 84,576,836 (GRCm39)	M1426L	probably damaging	Het
Zfp641	T	G	15: 98,187,008 (GRCm39)	N191T	possibly damaging	Het
Zfp687	T	C	3: 94,918,864 (GRCm39)	S303G	probably damaging	Het
Zfp759	T	A	13: 67,286,877 (GRCm39)	F143I	possibly damaging	Het
Zgrf1	G	C	3: 127,409,095 (GRCm39)	E1690Q	probably 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
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
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'- GACTTCGGGCAGGCATTAGATCAAC -3'
(R):5'- TGGCCCTGGCAAACACTGAGAAAG -3'

Sequencing Primer
(F):5'- AAGGGCTTTCTCTGCTGACAC -3'
(R):5'- CACTGAGAAAGAGGCTCGC -3'

Posted On

2014-07-16