Mutagenetix > Incidental Mutations

Incidental Mutation 'R1544:Abcd3'

171990

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

039583-MU

Accession Numbers

Genbank: NM_008991; MGI: 1349216

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1544 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121758774-121815302 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121784473 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 168 (Q168R)

Ref Sequence

ENSEMBL: ENSMUSP00000142387 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000029770
AA Change: Q168R

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

SMART Domains

Protein: ENSMUSP00000029770
Gene: ENSMUSG00000028127
AA Change: Q168R

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: ENSMUST00000195965

Predicted Effect

probably benign
Transcript: ENSMUST00000197383
AA Change: Q168R

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000142387
Gene: ENSMUSG00000028127
AA Change: Q168R

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: ENSMUST00000198169

Meta Mutation Damage Score

0.0822

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 86.9%

Validation Efficiency

99% (114/115)

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578C19Rik	A	C	X: 18,420,462	L285V	possibly damaging	Het
4931406B18Rik	A	G	7: 43,498,119	I182T	possibly damaging	Het
4933406P04Rik	A	G	10: 20,311,359		probably benign	Het
4933425L06Rik	A	T	13: 105,109,621	H230L	probably benign	Het
A730018C14Rik	A	G	12: 112,415,490		noncoding transcript	Het
Aacs	A	T	5: 125,516,330	I666F	possibly damaging	Het
Abcb9	C	T	5: 124,083,631	V227I	probably benign	Het
Adamts4	A	G	1: 171,252,742	Q288R	probably benign	Het
Atad2	G	A	15: 58,103,364	A611V	probably damaging	Het
Aup1	T	C	6: 83,055,206	V118A	possibly damaging	Het
Bend7	T	A	2: 4,763,311		probably benign	Het
Brd4	A	G	17: 32,198,672		probably benign	Het
C4b	C	A	17: 34,738,967	R580L	probably benign	Het
Cct8	G	T	16: 87,491,454		probably benign	Het
Cilp	T	C	9: 65,275,845	Y344H	probably benign	Het
Clic6	A	T	16: 92,492,073		probably benign	Het
Colgalt2	T	C	1: 152,484,952	S247P	probably damaging	Het
Csf2rb	G	T	15: 78,340,755	A212S	probably benign	Het
Csmd3	A	C	15: 47,611,898		probably null	Het
Cyp26c1	A	G	19: 37,690,945	D366G	probably benign	Het
Dhx33	A	G	11: 70,999,528	S222P	probably damaging	Het
Dhx40	T	A	11: 86,806,553	I63F	possibly damaging	Het
Dlgap2	T	A	8: 14,829,861		probably null	Het
Dnah7b	T	A	1: 46,066,797	D20E	unknown	Het
Dnase2b	C	A	3: 146,584,557	A220S	probably benign	Het
Dock10	T	C	1: 80,592,635	E362G	probably benign	Het
Ect2l	C	T	10: 18,168,434	V226I	probably benign	Het
Epha10	C	A	4: 124,885,596	N78K	probably damaging	Het
Epha3	A	G	16: 63,773,053	V224A	probably damaging	Het
Fam126a	A	T	5: 23,965,141	D403E	probably benign	Het
Fam208b	A	T	13: 3,590,413	H241Q	possibly damaging	Het
Fcgr4	C	A	1: 171,019,954	D40E	probably damaging	Het
Fer1l4	T	C	2: 156,045,633	M548V	probably benign	Het
Flii	C	T	11: 60,719,692		probably null	Het
Flnc	A	T	6: 29,444,080	Y631F	probably benign	Het
Gm13101	T	C	4: 143,966,062	D123G	probably benign	Het
Gm14685	G	T	X: 73,127,655	G218C	probably damaging	Het
Gm4788	A	T	1: 139,736,870	C484S	probably damaging	Het
Gm6871	A	C	7: 41,546,090		probably null	Het
Gtf2ird1	A	T	5: 134,358,918	S1028T	possibly damaging	Het
Hydin	A	G	8: 110,574,854	H3739R	probably benign	Het
Iqcg	A	T	16: 33,045,525	N149K	probably benign	Het
Iqgap3	A	G	3: 88,098,893	D537G	probably benign	Het
Itih2	T	G	2: 10,105,214	D576A	probably benign	Het
Kcmf1	T	C	6: 72,848,229	T243A	probably benign	Het
Kif1a	A	G	1: 93,074,948		probably benign	Het
Klf10	C	T	15: 38,296,786	G337S	probably damaging	Het
Krt31	T	C	11: 100,047,873	N298S	possibly damaging	Het
Lmnb1	A	G	18: 56,749,751	E556G	probably benign	Het
Mael	A	T	1: 166,202,290	S354T	probably benign	Het
Mast3	T	C	8: 70,786,172	D496G	probably damaging	Het
Med12l	A	G	3: 59,265,240	T1806A	possibly damaging	Het
Mms19	A	G	19: 41,955,821		probably null	Het
Moap1	A	T	12: 102,743,245	M15K	possibly damaging	Het
Mpv17l	G	T	16: 13,946,819	W70L	probably damaging	Het
Muc4	G	C	16: 32,753,919	R1265P	probably benign	Het
Myo7b	T	C	18: 31,994,909	I577V	probably benign	Het
Myo9b	T	A	8: 71,290,976	L227Q	probably damaging	Het
Myom2	T	C	8: 15,104,059		probably benign	Het
Naip6	C	A	13: 100,316,475	R26L	probably benign	Het
Nbea	T	C	3: 56,058,827	T405A	probably damaging	Het
Nrp2	T	A	1: 62,762,904	I502N	probably damaging	Het
Nufip2	G	A	11: 77,691,907	E216K	possibly damaging	Het
Oaf	A	G	9: 43,222,633	Y264H	probably damaging	Het
Olfr1023	T	C	2: 85,887,271	L157P	probably damaging	Het
Olfr643	A	G	7: 104,059,224	V126A	probably damaging	Het
Olfr815	A	T	10: 129,902,424	C95*	probably null	Het
Pax1	T	C	2: 147,368,401	V352A	probably damaging	Het
Pkd1l2	TGGG	TGG	8: 117,038,235		probably null	Het
Plxna3	G	A	X: 74,340,166		probably null	Het
Pnpla3	T	C	15: 84,181,046	V347A	probably benign	Het
Ppl	T	A	16: 5,102,597	K350*	probably null	Het
Prb1	C	A	6: 132,209,460		probably null	Het
Prb1	T	A	6: 132,209,461		probably null	Het
Ptpn11	G	A	5: 121,137,511	H540Y	probably benign	Het
Ptprz1	C	A	6: 23,000,748	H946N	possibly damaging	Het
Rad51b	A	G	12: 79,302,543	E51G	possibly damaging	Het
Rin2	T	C	2: 145,858,446	V181A	probably damaging	Het
Rnf157	T	A	11: 116,354,362		probably null	Het
Rnf207	A	G	4: 152,313,871		probably benign	Het
Ror1	A	T	4: 100,441,986	K852M	probably damaging	Het
Sbp	T	A	17: 23,945,069	I102K	probably benign	Het
Scaf8	T	C	17: 3,145,154	I33T	probably damaging	Het
Scn5a	C	T	9: 119,486,633	V1670I	probably damaging	Het
Serhl	C	T	15: 83,105,676	T42M	probably damaging	Het
Sin3a	A	G	9: 57,103,997		probably benign	Het
Slc12a2	A	G	18: 57,879,302	S166G	probably benign	Het
Slc15a4	G	A	5: 127,603,768	H396Y	probably benign	Het
Slc2a7	A	T	4: 150,154,686	N123Y	probably damaging	Het
Smpd3	G	A	8: 106,265,567	T118M	possibly damaging	Het
Spns2	A	T	11: 72,456,367	I427N	probably benign	Het
Ssmem1	T	A	6: 30,519,651	S112T	probably damaging	Het
Stard10	A	T	7: 101,344,026	D190V	probably damaging	Het
Stil	A	T	4: 115,023,852	K531M	probably damaging	Het
Strc	T	C	2: 121,372,738		probably null	Het
Svil	T	A	18: 5,046,817	I21N	possibly damaging	Het
Syt11	T	C	3: 88,748,803	M14V	probably benign	Het
Tg	A	T	15: 66,705,232	Q1468L	probably benign	Het
Tjp1	A	G	7: 65,302,921	V1555A	probably benign	Het
Tmprss11d	A	C	5: 86,338,799	S77R	probably damaging	Het
Tsnaxip1	A	G	8: 105,827,751		probably benign	Het
Tyr	C	A	7: 87,492,706	L138F	probably damaging	Het
Ubash3b	A	G	9: 41,016,605	V469A	probably damaging	Het
Ugt8a	T	C	3: 125,915,449	Y4C	probably benign	Het
Vmn1r201	A	T	13: 22,474,798	T61S	probably benign	Het
Vmn1r204	A	G	13: 22,556,295	H32R	probably benign	Het
Vmn1r228	T	A	17: 20,777,023	I78L	probably benign	Het
Wdr90	T	C	17: 25,849,310	D1348G	possibly damaging	Het
Zfp563	T	A	17: 33,105,213	C261S	probably benign	Het
Zfp809	T	A	9: 22,235,099	L28Q	probably damaging	Het
Znrf3	T	A	11: 5,289,066	Q99L	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
R0324:Abcd3	UTSW	3	121769167	missense	probably null	0.00
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
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'- TAATTGGAGCGCACGGACTAGAGC -3'
(R):5'- CCAAACTGATATGCAATGTGGCCTGAG -3'

Sequencing Primer
(F):5'- GACTAGAGCCCCCGCAC -3'
(R):5'- TGTGGCCTGAGTTAGGAAAATC -3'

Posted On

2014-04-13