Mutagenetix > Incidental Mutation

Incidental Mutation 'R8936:Abcd3'

680623

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

068779-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8936 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121552423-121608951 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121569117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 374 (I374V)

Ref Sequence

ENSEMBL: ENSMUSP00000029770 (fasta)

Gene Model

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

AlphaFold

P55096

Predicted Effect

probably benign
Transcript: ENSMUST00000029770
AA Change: I374V

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000029770
Gene: ENSMUSG00000028127
AA Change: I374V

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

probably benign
Transcript: ENSMUST00000197383

SMART Domains

Protein: ENSMUSP00000142387
Gene: ENSMUSG00000028127

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	G	19: 43,797,101 (GRCm39)	K491E	probably benign	Het
Adam34	G	A	8: 44,104,439 (GRCm39)	T402I	probably benign	Het
Angptl7	G	T	4: 148,581,790 (GRCm39)	H199N	probably benign	Het
Ankrd11	A	G	8: 123,621,840 (GRCm39)	C671R	possibly damaging	Het
Anxa7	G	A	14: 20,521,495 (GRCm39)	P67L	unknown	Het
Ap3d1	T	A	10: 80,547,952 (GRCm39)	Q913H	probably benign	Het
Arhgef37	A	G	18: 61,656,948 (GRCm39)	I39T	probably damaging	Het
Armh4	G	A	14: 50,008,024 (GRCm39)	T483I	probably damaging	Het
C3ar1	T	A	6: 122,828,044 (GRCm39)	T58S	probably damaging	Het
Caap1	A	T	4: 94,389,332 (GRCm39)	L334Q	probably damaging	Het
Ccr1	A	T	9: 123,763,882 (GRCm39)	I216K	probably damaging	Het
Cdh9	T	A	15: 16,831,162 (GRCm39)		probably null	Het
Cept1	A	G	3: 106,411,921 (GRCm39)	F351S	possibly damaging	Het
Cfap61	A	G	2: 145,791,879 (GRCm39)	D112G	possibly damaging	Het
Cul9	T	A	17: 46,839,528 (GRCm39)	S817C	possibly damaging	Het
Dido1	A	G	2: 180,303,195 (GRCm39)	S1570P	probably benign	Het
Disc1	A	G	8: 125,814,754 (GRCm39)	D206G	probably damaging	Het
Dock5	T	A	14: 68,083,439 (GRCm39)	R157*	probably null	Het
Dpp6	A	G	5: 27,926,140 (GRCm39)	D738G	probably damaging	Het
Enpep	A	G	3: 129,125,884 (GRCm39)	F83L	possibly damaging	Het
F10	G	T	8: 13,095,086 (GRCm39)	W81L	probably damaging	Het
Fam217a	T	C	13: 35,095,147 (GRCm39)	D356G	probably damaging	Het
Fes	T	C	7: 80,031,473 (GRCm39)	E467G	probably damaging	Het
Fignl2	A	T	15: 100,951,339 (GRCm39)	D314E	unknown	Het
Foxh1	T	C	15: 76,552,719 (GRCm39)		probably benign	Het
Gdpd5	T	C	7: 99,109,199 (GRCm39)	L573P	probably benign	Het
Gigyf1	T	A	5: 137,523,469 (GRCm39)	S934T	probably damaging	Het
Gm7356	C	T	17: 14,221,937 (GRCm39)	V31I	probably benign	Het
Hoatz	A	G	9: 51,011,298 (GRCm39)		probably null	Het
Hoxa2	C	A	6: 52,140,517 (GRCm39)	K156N	probably damaging	Het
Ifi203	G	A	1: 173,756,857 (GRCm39)		probably benign	Het
Il5ra	A	T	6: 106,692,604 (GRCm39)	D380E	possibly damaging	Het
Ino80c	C	A	18: 24,254,865 (GRCm39)		probably benign	Het
Kif18a	T	A	2: 109,163,966 (GRCm39)	W772R	probably benign	Het
Lipo3	G	T	19: 33,557,880 (GRCm39)	Q171K	probably damaging	Het
Mga	A	T	2: 119,794,709 (GRCm39)	T2798S	probably damaging	Het
Msantd5l	A	G	11: 51,145,249 (GRCm39)	S113P	probably damaging	Het
Mybpc1	T	A	10: 88,394,437 (GRCm39)	T297S	probably benign	Het
Myh7	T	G	14: 55,228,440 (GRCm39)	Q222P	probably benign	Het
N4bp2l2	T	C	5: 150,585,362 (GRCm39)	D206G	probably benign	Het
Nacc2	G	C	2: 25,952,216 (GRCm39)	T380S	probably benign	Het
Niban3	T	A	8: 72,060,307 (GRCm39)		probably benign	Het
Nkpd1	T	A	7: 19,255,875 (GRCm39)	D186E	probably damaging	Het
Nol10	A	T	12: 17,466,863 (GRCm39)	E581V	probably benign	Het
Ntrk1	A	T	3: 87,693,366 (GRCm39)	N255K	possibly damaging	Het
Nudt5	T	G	2: 5,869,228 (GRCm39)	D151E	probably benign	Het
Obscn	A	T	11: 58,892,858 (GRCm39)	L6796Q	probably benign	Het
Or10p21	C	T	10: 128,847,802 (GRCm39)	A216V	probably benign	Het
Or4k2	A	G	14: 50,423,999 (GRCm39)	I225T	possibly damaging	Het
Oxct2b	A	G	4: 123,010,838 (GRCm39)	T253A	probably benign	Het
Patl1	G	A	19: 11,891,725 (GRCm39)	C10Y	probably damaging	Het
Pikfyve	A	G	1: 65,310,427 (GRCm39)	R1905G	possibly damaging	Het
Pkhd1l1	A	G	15: 44,402,312 (GRCm39)	E2228G	possibly damaging	Het
Plcg1	A	G	2: 160,589,986 (GRCm39)	K135E	probably benign	Het
Proz	A	G	8: 13,115,319 (GRCm39)	T112A	probably benign	Het
Prune2	A	G	19: 17,099,199 (GRCm39)	N1568D	probably benign	Het
Rbm4	A	G	19: 4,837,539 (GRCm39)	V431A	probably benign	Het
Rgs19	G	T	2: 181,333,058 (GRCm39)	C40*	probably null	Het
Rimbp3	T	A	16: 17,030,884 (GRCm39)	I1436K	probably benign	Het
Rnps1	T	A	17: 24,641,176 (GRCm39)	M192K	probably damaging	Het
Rrad	C	T	8: 105,355,222 (GRCm39)	R262Q	possibly damaging	Het
Slc17a9	G	A	2: 180,380,210 (GRCm39)	V318I	probably benign	Het
Slc5a12	A	G	2: 110,467,455 (GRCm39)	I412V	probably damaging	Het
Smc4	T	A	3: 68,925,491 (GRCm39)	N329K	probably benign	Het
St3gal4	G	A	9: 34,964,723 (GRCm39)	R165W	probably damaging	Het
Strbp	G	A	2: 37,493,949 (GRCm39)	R375*	probably null	Het
Tacc2	A	G	7: 130,228,367 (GRCm39)	N1684S	possibly damaging	Het
Tet1	A	T	10: 62,676,063 (GRCm39)	L671*	probably null	Het
Tex2	C	A	11: 106,458,144 (GRCm39)	E429*	probably null	Het
Tgm4	T	C	9: 122,869,541 (GRCm39)	I40T	possibly damaging	Het
Tmem132d	C	T	5: 127,869,676 (GRCm39)	D553N	probably damaging	Het
Tnks	A	T	8: 35,320,501 (GRCm39)	Y723*	probably null	Het
Tnks1bp1	A	T	2: 84,894,320 (GRCm39)	T1416S	probably benign	Het
Tnxb	T	A	17: 34,904,646 (GRCm39)	L1137Q	probably damaging	Het
Tor4a	A	C	2: 25,085,202 (GRCm39)	C68G	probably damaging	Het
Tubb2b	A	C	13: 34,312,445 (GRCm39)	V116G	probably damaging	Het
Upb1	T	A	10: 75,250,827 (GRCm39)	S99T	probably benign	Het
Vmn1r31	T	A	6: 58,449,083 (GRCm39)	I261F	unknown	Het
Vmn1r53	T	C	6: 90,200,571 (GRCm39)	Y251C	probably benign	Het
Vmn2r58	T	C	7: 41,513,981 (GRCm39)	R221G		Het
Vmn2r88	A	T	14: 51,655,983 (GRCm39)	I740F	possibly damaging	Het
Zfp644	C	T	5: 106,783,503 (GRCm39)	G1015R	probably damaging	Het
Zfy1	T	C	Y: 738,726 (GRCm39)	D160G	unknown	Het
Zscan25	T	A	5: 145,223,200 (GRCm39)	V156E	probably damaging	Het
Zyg11b	A	T	4: 108,109,356 (GRCm39)	F443I		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
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

Predicted Primers

PCR Primer
(F):5'- TGCCTTCAGGAAGCATGAGG -3'
(R):5'- CTTCCTAGATCTGGCACACC -3'

Sequencing Primer
(F):5'- GGGAGACAAGTCCTCCTTAATTTTC -3'
(R):5'- TAGATCTGGCACACCCTCGC -3'

Posted On

2021-08-31