Mutagenetix > Incidental Mutations

Incidental Mutation 'R0324:Abcd3'

26334

Institutional Source

Beutler Lab

Gene Symbol

Abcd3

Ensembl Gene

ENSMUSG00000028127

Gene Name

ATP-binding cassette, sub-family D (ALD), member 3

Synonyms

PMP70, Pxmp1

MMRRC Submission

038534-MU

Accession Numbers

Genbank: NM_008991; MGI: 1349216

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0324 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121758774-121815302 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 121769167 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 540 (Q540H)

Ref Sequence

ENSEMBL: ENSMUSP00000029770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029770] [ENSMUST00000197383] [ENSMUST00000197662]

Predicted Effect

probably null
Transcript: ENSMUST00000029770
AA Change: Q540H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029770
Gene: ENSMUSG00000028127
AA Change: Q540H

Domain	Start	End	E-Value	Type
low complexity region	15	33	N/A	INTRINSIC
Pfam:ABC_membrane_2	57	338	8.6e-106	PFAM
AAA	465	640	6.88e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196340

Predicted Effect

probably null
Transcript: ENSMUST00000197383
AA Change: Q430H

SMART Domains

Protein: ENSMUSP00000142387
Gene: ENSMUSG00000028127
AA Change: Q430H

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:ABC_membrane_2	57	277	2.3e-78	PFAM
AAA	355	530	1.1e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197662

SMART Domains

Protein: ENSMUSP00000143487
Gene: ENSMUSG00000028127

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199084

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 96.1%
20x: 93.1%

Validation Efficiency

MGI Phenotype

FUNCTION: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation show enlarged livers, abnormal bile composition and peroxisome abnormalities. [provided by MGI curators]

Allele List at MGI

All alleles(11) : Targeted, other(2) Gene trapped(9)

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,001,157	L357S	probably benign	Het
1700129C05Rik	C	T	14: 59,142,807	R14H	probably damaging	Het
4933417A18Rik	A	G	13: 34,924,613	N26S	probably benign	Het
Aatf	A	G	11: 84,512,139		probably null	Het
Abca13	T	A	11: 9,297,669	M2472K	possibly damaging	Het
Adam17	C	T	12: 21,349,938	V156I	probably benign	Het
Adam26a	A	G	8: 43,568,453	S667P	probably benign	Het
Adcy10	A	G	1: 165,564,249	K1333E	probably benign	Het
Apob	G	A	12: 8,010,521	R2968Q	probably benign	Het
Arap3	G	A	18: 37,973,225	P1522S	possibly damaging	Het
Catsper1	A	T	19: 5,336,545	S269C	probably damaging	Het
Cd209d	A	T	8: 3,878,258	S42R	probably benign	Het
Cntln	T	A	4: 85,092,695	V1049E	probably damaging	Het
Cracr2b	T	C	7: 141,463,746	F87L	probably damaging	Het
Crb3	T	C	17: 57,065,133	L60P	probably damaging	Het
Crispld1	T	C	1: 17,749,591	V271A	probably benign	Het
Cyp2c66	G	T	19: 39,176,691	R372L	probably benign	Het
Ddx58	T	C	4: 40,213,766	T586A	probably benign	Het
Deup1	G	A	9: 15,582,533	R438W	probably benign	Het
Dnah6	C	T	6: 73,173,558	E741K	possibly damaging	Het
Epha4	T	C	1: 77,383,551	E703G	probably damaging	Het
Evc2	G	A	5: 37,393,099	R819H	probably damaging	Het
Fam217a	A	C	13: 34,910,961	C272G	possibly damaging	Het
Fndc7	T	C	3: 108,876,699		probably null	Het
Foxs1	C	T	2: 152,932,687	G149S	probably benign	Het
Galnt13	T	C	2: 54,854,616	V109A	probably benign	Het
Hmgxb4	G	A	8: 74,998,928	M7I	probably benign	Het
Klk1b1	T	A	7: 43,970,741	C209*	probably null	Het
Klra10	A	G	6: 130,272,650		probably null	Het
Kntc1	A	T	5: 123,778,112	K701N	probably damaging	Het
Lpgat1	T	A	1: 191,749,642	L114Q	probably damaging	Het
Mecom	T	A	3: 29,963,112	Q468L	probably damaging	Het
Med15	T	C	16: 17,697,612	T70A	probably damaging	Het
Msh6	T	A	17: 87,986,620	Y934*	probably null	Het
Mtus1	T	C	8: 41,084,395	T95A	probably benign	Het
Mylk3	C	A	8: 85,352,906	R444S	probably damaging	Het
Nbea	A	G	3: 56,057,948		probably null	Het
Nbeal1	T	C	1: 60,292,873	V2242A	probably damaging	Het
Nhp2	A	G	11: 51,622,507	T85A	possibly damaging	Het
Nlk	A	G	11: 78,572,431	S413P	possibly damaging	Het
Nmbr	A	G	10: 14,760,448	I54V	possibly damaging	Het
Nmur2	A	T	11: 56,040,520	C122S	probably damaging	Het
Nudt13	G	T	14: 20,311,515	V220L	probably damaging	Het
Olfr1025-ps1	G	A	2: 85,917,951	V9M	probably benign	Het
Pclo	G	A	5: 14,669,433	G1195R	unknown	Het
Pcsk7	A	G	9: 45,913,011	H276R	possibly damaging	Het
Pdss2	T	C	10: 43,393,928	S256P	probably damaging	Het
Pgf	G	T	12: 85,171,424	H116N	probably benign	Het
Pglyrp2	T	C	17: 32,418,328	D242G	probably benign	Het
Plk2	G	A	13: 110,397,708	R274K	probably benign	Het
Ppp6r3	G	T	19: 3,464,693	P141T	probably benign	Het
Prss54	T	C	8: 95,565,667	T95A	probably benign	Het
Rab3il1	A	G	19: 10,028,289	D149G	probably damaging	Het
Rasgef1c	T	C	11: 49,961,230		probably null	Het
Rhpn1	T	C	15: 75,711,588	M334T	probably damaging	Het
Robo2	C	T	16: 73,967,851	V630M	probably damaging	Het
Rptor	C	T	11: 119,892,641	R1154W	probably damaging	Het
Scnn1g	A	G	7: 121,740,555	I192M	possibly damaging	Het
Sit1	G	A	4: 43,482,815	Q115*	probably null	Het
Slc13a2	T	C	11: 78,404,524	N141S	probably damaging	Het
Slc19a2	C	A	1: 164,256,775	T78K	probably damaging	Het
Snx14	A	G	9: 88,405,238		probably null	Het
Stil	T	A	4: 115,039,149	C944S	probably benign	Het
Tnfaip2	A	G	12: 111,453,459	N675S	probably damaging	Het
Trim30c	A	G	7: 104,383,309	I270T	possibly damaging	Het
Ugt2a3	C	T	5: 87,327,073		probably null	Het
Vmn1r213	A	T	13: 23,011,418		probably benign	Het
Vmn2r8	A	C	5: 108,797,941		probably null	Het
Vps13c	T	C	9: 67,964,309	F3253L	possibly damaging	Het
Zbtb16	G	T	9: 48,665,275	Q502K	possibly damaging	Het
Zfp143	A	G	7: 110,077,147	K218E	possibly damaging	Het
Zfp946	A	G	17: 22,454,436	N57S	probably benign	Het
Zfp985	T	C	4: 147,582,857	Y61H	probably benign	Het
Zkscan1	G	A	5: 138,097,523	R246Q	probably damaging	Het
Zpld1	A	G	16: 55,251,615	F94L	probably damaging	Het
Zswim5	G	T	4: 116,986,906	W1047L	probably damaging	Het

Other mutations in Abcd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Abcd3	APN	3	121776993	splice site	probably benign
IGL00670:Abcd3	APN	3	121775684	missense	probably damaging	1.00
IGL02473:Abcd3	APN	3	121769244	missense	possibly damaging	0.74
IGL02660:Abcd3	APN	3	121784020	missense	probably damaging	1.00
IGL02993:Abcd3	APN	3	121774010	missense	probably benign	0.01
IGL03131:Abcd3	APN	3	121781991	splice site	probably benign
3-1:Abcd3	UTSW	3	121760300	missense	probably benign
R0599:Abcd3	UTSW	3	121765093	missense	probably damaging	1.00
R0682:Abcd3	UTSW	3	121769567	missense	possibly damaging	0.90
R1109:Abcd3	UTSW	3	121779596	missense	probably damaging	1.00
R1453:Abcd3	UTSW	3	121765061	missense	probably damaging	1.00
R1544:Abcd3	UTSW	3	121784473	missense	probably benign	0.11
R1571:Abcd3	UTSW	3	121792842	missense	possibly damaging	0.80
R1779:Abcd3	UTSW	3	121781963	missense	probably damaging	1.00
R2429:Abcd3	UTSW	3	121792863	missense	probably damaging	1.00
R4326:Abcd3	UTSW	3	121761470	missense	probably benign	0.06
R4676:Abcd3	UTSW	3	121774166	missense	possibly damaging	0.69
R4830:Abcd3	UTSW	3	121760284	missense	probably damaging	1.00
R4929:Abcd3	UTSW	3	121768746	splice site	probably null
R4980:Abcd3	UTSW	3	121769268	splice site	probably null
R5052:Abcd3	UTSW	3	121769513	critical splice donor site	probably null
R5384:Abcd3	UTSW	3	121761410	splice site	probably null
R5616:Abcd3	UTSW	3	121772360	missense	probably benign	0.00
R5796:Abcd3	UTSW	3	121784498	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCGATGAGAATACAGCACTGTAGC -3'
(R):5'- AGGGCGGCTTACTAAACCTGAGAG -3'

Sequencing Primer
(F):5'- CTGTAGCAATAGTTGAAACATGCC -3'
(R):5'- TTTATGTTCCTCAGGTAAGACTTTG -3'

Posted On

2013-04-16