Mutagenetix > Incidental Mutation

Incidental Mutation 'R4676:Abcd3'

349556

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

042013-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4676 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121552423-121608951 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121567815 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 409 (T409S)

Ref Sequence

ENSEMBL: ENSMUSP00000029770 (fasta)

Gene Model

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

AlphaFold

P55096

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029770
AA Change: T409S

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029770
Gene: ENSMUSG00000028127
AA Change: T409S

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

unknown
Transcript: ENSMUST00000197383
AA Change: T299S

SMART Domains

Protein: ENSMUSP00000142387
Gene: ENSMUSG00000028127
AA Change: T299S

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

Meta Mutation Damage Score

0.0647

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (93/95)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	A	1: 120,078,382 (GRCm39)	I13N	probably damaging	Het
Acad12	C	A	5: 121,745,234 (GRCm39)	W317L	probably damaging	Het
Acap1	T	A	11: 69,780,294 (GRCm39)	M50L	probably benign	Het
Acvr1b	T	A	15: 101,100,867 (GRCm39)	V343E	probably damaging	Het
Adgb	C	A	10: 10,302,454 (GRCm39)	G371W	probably damaging	Het
Akap9	A	G	5: 4,082,774 (GRCm39)	K1966R	probably damaging	Het
Akap9	C	T	5: 4,114,515 (GRCm39)	Q48*	probably null	Het
Ano10	T	C	9: 122,092,853 (GRCm39)	R159G	probably damaging	Het
Anxa7	T	C	14: 20,517,983 (GRCm39)	M128V	probably benign	Het
Arhgef40	C	A	14: 52,228,416 (GRCm39)	C554*	probably null	Het
Atf6	T	C	1: 170,614,979 (GRCm39)	Y538C	probably damaging	Het
Atp8b1	A	C	18: 64,671,749 (GRCm39)	D1091E	probably benign	Het
BC034090	A	G	1: 155,102,010 (GRCm39)	Y85H	possibly damaging	Het
Bcas2	A	G	3: 103,083,017 (GRCm39)		probably benign	Het
Bnc2	T	C	4: 84,211,056 (GRCm39)	N463D	probably damaging	Het
Capn7	A	T	14: 31,081,216 (GRCm39)	H411L	possibly damaging	Het
Cavin3	T	C	7: 105,130,320 (GRCm39)	E164G	probably damaging	Het
Ccdc191	T	C	16: 43,759,536 (GRCm39)		probably benign	Het
Ccdc88b	A	G	19: 6,830,368 (GRCm39)	V858A	probably benign	Het
Clcn3	A	G	8: 61,383,685 (GRCm39)		probably benign	Het
Commd6	T	C	14: 101,877,720 (GRCm39)		probably benign	Het
Cspg4b	C	A	13: 113,505,341 (GRCm39)	L2157I	probably damaging	Het
Cspg4b	T	G	13: 113,505,342 (GRCm39)	L2157R	probably damaging	Het
Cul3	G	A	1: 80,249,391 (GRCm39)	L561F	probably damaging	Het
Cyfip1	T	A	7: 55,524,761 (GRCm39)	I131N	probably damaging	Het
Dlgap3	T	A	4: 127,127,554 (GRCm39)	Y741N	probably damaging	Het
Dnaaf10	T	C	11: 17,179,794 (GRCm39)	V265A	probably benign	Het
Dnah5	A	T	15: 28,295,406 (GRCm39)	I1380F	possibly damaging	Het
Dync1h1	G	T	12: 110,628,975 (GRCm39)	L4177F	probably damaging	Het
Ethe1	G	A	7: 24,307,319 (GRCm39)	V178M	probably damaging	Het
Flnc	A	T	6: 29,445,153 (GRCm39)		probably null	Het
Get3	C	T	8: 85,745,502 (GRCm39)	A219T	probably benign	Het
Glt8d1	T	C	14: 30,728,649 (GRCm39)	F26L	probably benign	Het
Gm5493	T	A	17: 22,967,054 (GRCm39)	D63E	probably benign	Het
Gm9996	T	A	10: 29,019,834 (GRCm39)		probably benign	Het
Gnl2	T	G	4: 124,947,266 (GRCm39)	S629R	possibly damaging	Het
Gpbp1l1	T	C	4: 116,447,462 (GRCm39)	S381P	probably damaging	Het
Igsf10	A	C	3: 59,233,370 (GRCm39)	F1788V	probably benign	Het
Inpp5d	C	A	1: 87,642,864 (GRCm39)	P935Q	probably damaging	Het
Itch	A	C	2: 155,041,355 (GRCm39)	I468L	probably benign	Het
Itga5	A	T	15: 103,265,637 (GRCm39)	Y192N	probably damaging	Het
Itih3	T	A	14: 30,643,643 (GRCm39)	Q121L	possibly damaging	Het
Itih3	T	A	14: 30,640,906 (GRCm39)	Q302L	probably null	Het
Kctd17	T	A	15: 78,319,959 (GRCm39)		probably benign	Het
Lsm1	T	C	8: 26,283,717 (GRCm39)	L43P	probably damaging	Het
Magi3	A	T	3: 103,923,141 (GRCm39)	M1192K	probably benign	Het
Mecom	A	G	3: 30,322,817 (GRCm39)		probably benign	Het
Minar1	A	G	9: 89,483,606 (GRCm39)	V597A	probably damaging	Het
Mtmr3	A	T	11: 4,477,855 (GRCm39)	F63Y	probably benign	Het
Naa16	A	G	14: 79,573,788 (GRCm39)		probably benign	Het
Neto1	A	T	18: 86,416,427 (GRCm39)	T45S	possibly damaging	Het
Nlrp4a	A	T	7: 26,149,654 (GRCm39)	R420S	probably damaging	Het
Nr1h4	T	C	10: 89,309,736 (GRCm39)	D317G	probably damaging	Het
Or8b53	A	G	9: 38,666,955 (GRCm39)		probably benign	Het
Or9i16	C	T	19: 13,864,765 (GRCm39)	D270N	probably damaging	Het
Or9q2	T	A	19: 13,772,838 (GRCm39)	I46F	possibly damaging	Het
Pde5a	A	T	3: 122,541,542 (GRCm39)	M11L	possibly damaging	Het
Plxnb1	G	A	9: 108,939,503 (GRCm39)	R1416Q	possibly damaging	Het
Polm	A	T	11: 5,785,749 (GRCm39)	Y141*	probably null	Het
Rxfp1	A	G	3: 79,612,975 (GRCm39)	F32L	probably damaging	Het
Scrt1	T	A	15: 76,405,868 (GRCm39)	D13V	possibly damaging	Het
Slc1a7	T	A	4: 107,834,871 (GRCm39)	V79E	possibly damaging	Het
Snurf	T	C	7: 59,645,270 (GRCm39)	Q48R	probably benign	Het
Srek1	T	C	13: 103,894,695 (GRCm39)		probably benign	Het
Stxbp5l	T	C	16: 37,076,246 (GRCm39)	S267G	probably damaging	Het
Taf5	C	T	19: 47,063,409 (GRCm39)	R320W	probably damaging	Het
Tars2	A	T	3: 95,660,403 (GRCm39)	N106K	probably damaging	Het
Tatdn3	A	T	1: 190,781,531 (GRCm39)	L207Q	probably damaging	Het
Tdrd6	T	C	17: 43,938,501 (GRCm39)	E849G	probably damaging	Het
Tedc2	T	C	17: 24,438,985 (GRCm39)	T111A	probably benign	Het
Tfg	T	A	16: 56,514,854 (GRCm39)		probably null	Het
Tgds	A	T	14: 118,353,643 (GRCm39)	S225T	probably benign	Het
Tnks2	T	A	19: 36,852,671 (GRCm39)	Y134*	probably null	Het
Trappc1	T	A	11: 69,216,356 (GRCm39)	V134D	probably damaging	Het
Ttc3	C	A	16: 94,243,620 (GRCm39)	P853Q	probably damaging	Het
Ttc7	C	A	17: 87,678,163 (GRCm39)		probably benign	Het
Ttf1	A	G	2: 28,964,606 (GRCm39)	S643G	probably damaging	Het
Tubgcp3	A	T	8: 12,700,171 (GRCm39)	S338T	probably damaging	Het
Ugt1a6a	T	C	1: 88,067,007 (GRCm39)	I271T	possibly damaging	Het
Vipas39	T	A	12: 87,288,075 (GRCm39)	Y445F	probably damaging	Het
Vmn1r31	A	C	6: 58,448,998 (GRCm39)	I289S	probably damaging	Het
Zfp112	A	G	7: 23,825,685 (GRCm39)	E551G	probably damaging	Het
Zfp397	T	A	18: 24,093,854 (GRCm39)	Y446*	probably null	Het
Zfp442	A	T	2: 150,251,526 (GRCm39)	H124Q	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
R0324:Abcd3	UTSW	3	121,562,816 (GRCm39)	missense	probably null	0.00
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
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'- CATGCAGCGTACACACTGTG -3'
(R):5'- GTCTTTTACTGAAGCAAAGTAGGAC -3'

Sequencing Primer
(F):5'- ACACTGTGTGGTCCAGCG -3'
(R):5'- TACTGAAGCAAAGTAGGACATGTATG -3'

Posted On

2015-10-08