Mutagenetix > Incidental Mutation

Incidental Mutation 'R0324:Abcd3'

26334

Institutional Source

Beutler Lab

Gene Symbol

Abcd3

Ensembl Gene

ENSMUSG00000028127

Gene Name

ATP-binding cassette, sub-family D member 3

Synonyms

PMP70, Pxmp1

MMRRC Submission

038534-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0324 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121552423-121608951 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 121562816 bp (GRCm39)

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]

AlphaFold

P55096

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: 9,219,989 (GRCm39)	L357S	probably benign	Het
1700129C05Rik	C	T	14: 59,380,256 (GRCm39)	R14H	probably damaging	Het
Aatf	A	G	11: 84,402,965 (GRCm39)		probably null	Het
Abca13	T	A	11: 9,247,669 (GRCm39)	M2472K	possibly damaging	Het
Adam17	C	T	12: 21,399,939 (GRCm39)	V156I	probably benign	Het
Adam26a	A	G	8: 44,021,490 (GRCm39)	S667P	probably benign	Het
Adcy10	A	G	1: 165,391,818 (GRCm39)	K1333E	probably benign	Het
Apob	G	A	12: 8,060,521 (GRCm39)	R2968Q	probably benign	Het
Arap3	G	A	18: 38,106,278 (GRCm39)	P1522S	possibly damaging	Het
Catsper1	A	T	19: 5,386,573 (GRCm39)	S269C	probably damaging	Het
Cd209d	A	T	8: 3,928,258 (GRCm39)	S42R	probably benign	Het
Cntln	T	A	4: 85,010,932 (GRCm39)	V1049E	probably damaging	Het
Cracr2b	T	C	7: 141,043,659 (GRCm39)	F87L	probably damaging	Het
Crb3	T	C	17: 57,372,133 (GRCm39)	L60P	probably damaging	Het
Crispld1	T	C	1: 17,819,815 (GRCm39)	V271A	probably benign	Het
Cyp2c66	G	T	19: 39,165,135 (GRCm39)	R372L	probably benign	Het
Deup1	G	A	9: 15,493,829 (GRCm39)	R438W	probably benign	Het
Dnah6	C	T	6: 73,150,541 (GRCm39)	E741K	possibly damaging	Het
Epha4	T	C	1: 77,360,188 (GRCm39)	E703G	probably damaging	Het
Evc2	G	A	5: 37,550,443 (GRCm39)	R819H	probably damaging	Het
Fam217a	A	C	13: 35,094,944 (GRCm39)	C272G	possibly damaging	Het
Fndc7	T	C	3: 108,784,015 (GRCm39)		probably null	Het
Foxs1	C	T	2: 152,774,607 (GRCm39)	G149S	probably benign	Het
Galnt13	T	C	2: 54,744,628 (GRCm39)	V109A	probably benign	Het
Hmgxb4	G	A	8: 75,725,556 (GRCm39)	M7I	probably benign	Het
Klk1b1	T	A	7: 43,620,165 (GRCm39)	C209*	probably null	Het
Klra10	A	G	6: 130,249,613 (GRCm39)		probably null	Het
Kntc1	A	T	5: 123,916,175 (GRCm39)	K701N	probably damaging	Het
Lpgat1	T	A	1: 191,481,754 (GRCm39)	L114Q	probably damaging	Het
Mecom	T	A	3: 30,017,261 (GRCm39)	Q468L	probably damaging	Het
Med15	T	C	16: 17,515,476 (GRCm39)	T70A	probably damaging	Het
Msh6	T	A	17: 88,294,048 (GRCm39)	Y934*	probably null	Het
Mtus1	T	C	8: 41,537,432 (GRCm39)	T95A	probably benign	Het
Mylk3	C	A	8: 86,079,535 (GRCm39)	R444S	probably damaging	Het
Nbea	A	G	3: 55,965,369 (GRCm39)		probably null	Het
Nbeal1	T	C	1: 60,332,032 (GRCm39)	V2242A	probably damaging	Het
Nhp2	A	G	11: 51,513,334 (GRCm39)	T85A	possibly damaging	Het
Nlk	A	G	11: 78,463,257 (GRCm39)	S413P	possibly damaging	Het
Nmbr	A	G	10: 14,636,192 (GRCm39)	I54V	possibly damaging	Het
Nmur2	A	T	11: 55,931,346 (GRCm39)	C122S	probably damaging	Het
Nudt13	G	T	14: 20,361,583 (GRCm39)	V220L	probably damaging	Het
Or5m13	G	A	2: 85,748,295 (GRCm39)	V9M	probably benign	Het
Pclo	G	A	5: 14,719,447 (GRCm39)	G1195R	unknown	Het
Pcsk7	A	G	9: 45,824,309 (GRCm39)	H276R	possibly damaging	Het
Pdss2	T	C	10: 43,269,924 (GRCm39)	S256P	probably damaging	Het
Pgf	G	T	12: 85,218,198 (GRCm39)	H116N	probably benign	Het
Pglyrp2	T	C	17: 32,637,302 (GRCm39)	D242G	probably benign	Het
Plk2	G	A	13: 110,534,242 (GRCm39)	R274K	probably benign	Het
Ppp6r3	G	T	19: 3,514,693 (GRCm39)	P141T	probably benign	Het
Prss54	T	C	8: 96,292,295 (GRCm39)	T95A	probably benign	Het
Rab3il1	A	G	19: 10,005,653 (GRCm39)	D149G	probably damaging	Het
Rasgef1c	T	C	11: 49,852,057 (GRCm39)		probably null	Het
Rhpn1	T	C	15: 75,583,437 (GRCm39)	M334T	probably damaging	Het
Rigi	T	C	4: 40,213,766 (GRCm39)	T586A	probably benign	Het
Robo2	C	T	16: 73,764,739 (GRCm39)	V630M	probably damaging	Het
Rptor	C	T	11: 119,783,467 (GRCm39)	R1154W	probably damaging	Het
Scnn1g	A	G	7: 121,339,778 (GRCm39)	I192M	possibly damaging	Het
Sit1	G	A	4: 43,482,815 (GRCm39)	Q115*	probably null	Het
Slc13a2	T	C	11: 78,295,350 (GRCm39)	N141S	probably damaging	Het
Slc19a2	C	A	1: 164,084,344 (GRCm39)	T78K	probably damaging	Het
Snx14	A	G	9: 88,287,291 (GRCm39)		probably null	Het
Stil	T	A	4: 114,896,346 (GRCm39)	C944S	probably benign	Het
Tex56	A	G	13: 35,108,596 (GRCm39)	N26S	probably benign	Het
Tnfaip2	A	G	12: 111,419,893 (GRCm39)	N675S	probably damaging	Het
Trim30c	A	G	7: 104,032,516 (GRCm39)	I270T	possibly damaging	Het
Ugt2a3	C	T	5: 87,474,932 (GRCm39)		probably null	Het
Vmn1r213	A	T	13: 23,195,588 (GRCm39)		probably benign	Het
Vmn2r8	A	C	5: 108,945,807 (GRCm39)		probably null	Het
Vps13c	T	C	9: 67,871,591 (GRCm39)	F3253L	possibly damaging	Het
Zbtb16	G	T	9: 48,576,575 (GRCm39)	Q502K	possibly damaging	Het
Zfp143	A	G	7: 109,676,354 (GRCm39)	K218E	possibly damaging	Het
Zfp946	A	G	17: 22,673,417 (GRCm39)	N57S	probably benign	Het
Zfp985	T	C	4: 147,667,314 (GRCm39)	Y61H	probably benign	Het
Zkscan1	G	A	5: 138,095,785 (GRCm39)	R246Q	probably damaging	Het
Zpld1	A	G	16: 55,071,978 (GRCm39)	F94L	probably damaging	Het
Zswim5	G	T	4: 116,844,103 (GRCm39)	W1047L	probably damaging	Het

Other mutations in Abcd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Abcd3	APN	3	121,570,642 (GRCm39)	splice site	probably benign
IGL00670:Abcd3	APN	3	121,569,333 (GRCm39)	missense	probably damaging	1.00
IGL02473:Abcd3	APN	3	121,562,893 (GRCm39)	missense	possibly damaging	0.74
IGL02660:Abcd3	APN	3	121,577,669 (GRCm39)	missense	probably damaging	1.00
IGL02993:Abcd3	APN	3	121,567,659 (GRCm39)	missense	probably benign	0.01
IGL03131:Abcd3	APN	3	121,575,640 (GRCm39)	splice site	probably benign
3-1:Abcd3	UTSW	3	121,553,949 (GRCm39)	missense	probably benign
R0599:Abcd3	UTSW	3	121,558,742 (GRCm39)	missense	probably damaging	1.00
R0682:Abcd3	UTSW	3	121,563,216 (GRCm39)	missense	possibly damaging	0.90
R1109:Abcd3	UTSW	3	121,573,245 (GRCm39)	missense	probably damaging	1.00
R1453:Abcd3	UTSW	3	121,558,710 (GRCm39)	missense	probably damaging	1.00
R1544:Abcd3	UTSW	3	121,578,122 (GRCm39)	missense	probably benign	0.11
R1571:Abcd3	UTSW	3	121,586,491 (GRCm39)	missense	possibly damaging	0.80
R1779:Abcd3	UTSW	3	121,575,612 (GRCm39)	missense	probably damaging	1.00
R2429:Abcd3	UTSW	3	121,586,512 (GRCm39)	missense	probably damaging	1.00
R4326:Abcd3	UTSW	3	121,555,119 (GRCm39)	missense	probably benign	0.06
R4676:Abcd3	UTSW	3	121,567,815 (GRCm39)	missense	possibly damaging	0.69
R4830:Abcd3	UTSW	3	121,553,933 (GRCm39)	missense	probably damaging	1.00
R4929:Abcd3	UTSW	3	121,562,395 (GRCm39)	splice site	probably null
R4980:Abcd3	UTSW	3	121,562,917 (GRCm39)	splice site	probably null
R5052:Abcd3	UTSW	3	121,563,162 (GRCm39)	critical splice donor site	probably null
R5384:Abcd3	UTSW	3	121,555,059 (GRCm39)	splice site	probably null
R5616:Abcd3	UTSW	3	121,566,009 (GRCm39)	missense	probably benign	0.00
R5796:Abcd3	UTSW	3	121,578,147 (GRCm39)	missense	probably damaging	1.00
R8936:Abcd3	UTSW	3	121,569,117 (GRCm39)	missense	probably benign	0.05

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