Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00429:Abca1'

6669

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abca1

Ensembl Gene

ENSMUSG00000015243

Gene Name

ATP-binding cassette, sub-family A (ABC1), member 1

Synonyms

ABC1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00429

Quality Score

Status

Chromosome

Chromosomal Location

53030787-53159895 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 53059255 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030010]

Predicted Effect

probably null
Transcript: ENSMUST00000030010

SMART Domains

Protein: ENSMUSP00000030010
Gene: ENSMUSG00000015243

Domain	Start	End	E-Value	Type
transmembrane domain	25	47	N/A	INTRINSIC
Pfam:ABC2_membrane_3	395	841	4.9e-14	PFAM
AAA	925	1122	4.2e-10	SMART
low complexity region	1137	1150	N/A	INTRINSIC
Pfam:ABC2_membrane_3	1344	1869	1.7e-53	PFAM
low complexity region	1890	1899	N/A	INTRINSIC
AAA	1938	2123	3.04e-7	SMART
low complexity region	2176	2187	N/A	INTRINSIC
low complexity region	2222	2237	N/A	INTRINSIC

Coding Region Coverage

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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. In humans, this protein functions as a cholesterol efflux pump in the cellular lipid removal pathway. Mutations in the human gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Many homozygous null mutants die perinatally with placental defects. Survivors show altered steroidogenesis, defective lipid export in Golgi, low serum cholesterol, lipid accumulation in macrophages and lung, reduced fertility and kidney and heart defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009J07Rik	G	A	10: 77,893,839		probably benign	Het
4933411K16Rik	T	C	19: 42,052,544	L38P	probably damaging	Het
Abca15	T	A	7: 120,397,054	I1401N	probably damaging	Het
Adam3	A	C	8: 24,694,278	Y569D	probably damaging	Het
Ap2a1	T	C	7: 44,905,768	S458G	probably damaging	Het
Asxl3	C	T	18: 22,525,223	P2097S	probably benign	Het
AW551984	T	C	9: 39,592,849	D607G	probably benign	Het
Ccdc158	C	A	5: 92,657,881	M338I	probably benign	Het
Cdh23	A	G	10: 60,421,141	S735P	probably damaging	Het
Cdh9	T	C	15: 16,828,362	V180A	probably damaging	Het
Cyp4a31	A	T	4: 115,574,974		probably benign	Het
Dus4l	A	G	12: 31,641,669	V180A	probably benign	Het
Dysf	A	T	6: 84,189,844	T1672S	probably damaging	Het
F830016B08Rik	T	A	18: 60,300,268	L141Q	probably damaging	Het
Fhod3	A	G	18: 24,994,540	E313G	probably damaging	Het
Gm4884	A	G	7: 41,044,385	T593A	probably benign	Het
Hist1h2bm	T	C	13: 21,722,140	S15P	possibly damaging	Het
Il18r1	G	A	1: 40,498,652	E526K	possibly damaging	Het
Lama4	A	T	10: 39,011,026	H109L	possibly damaging	Het
Mab21l1	A	C	3: 55,783,136	Q48P	probably damaging	Het
Magi3	T	A	3: 104,014,978	K1474N	probably damaging	Het
Mre11a	T	C	9: 14,802,813	F237L	probably damaging	Het
Mst1r	A	T	9: 107,913,250		probably benign	Het
Myh2	C	T	11: 67,180,790	Q478*	probably null	Het
Mylip	C	A	13: 45,408,567	P282T	probably benign	Het
Mymk	T	C	2: 27,062,787	Y103C	probably damaging	Het
Necab1	A	T	4: 15,052,656	N107K	probably damaging	Het
Pclo	T	C	5: 14,680,739		probably benign	Het
Phgdh	T	C	3: 98,328,315	K129E	probably damaging	Het
Plxna4	T	C	6: 32,162,091	Y1714C	probably damaging	Het
Pm20d2	A	G	4: 33,187,205		probably benign	Het
Ppfibp2	A	G	7: 107,697,594	T172A	probably benign	Het
Prkca	T	C	11: 108,343,508	T54A	probably benign	Het
Prlr	A	G	15: 10,328,324	D295G	probably benign	Het
Rdh12	A	G	12: 79,211,402	I68V	probably benign	Het
Slc14a2	A	G	18: 78,150,438	F850L	possibly damaging	Het
Smad2	A	T	18: 76,298,495	S185C	possibly damaging	Het
Soga1	A	C	2: 157,030,864	F909C	probably damaging	Het
Trav13n-4	T	A	14: 53,363,831	L19Q	probably benign	Het
Ush2a	T	A	1: 188,400,114	C844*	probably null	Het
Vwce	T	A	19: 10,664,511		probably null	Het
Wdr95	T	C	5: 149,595,244		probably benign	Het
Zfp143	T	C	7: 110,091,772	I510T	probably damaging	Het
Zfp930	G	T	8: 69,227,982	K90N	probably damaging	Het

Other mutations in Abca1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00778:Abca1	APN	4	53086132	missense	probably benign
IGL01013:Abca1	APN	4	53038185	nonsense	probably null
IGL01510:Abca1	APN	4	53143979	missense	probably damaging	0.97
IGL01608:Abca1	APN	4	53038158	missense	probably damaging	1.00
IGL01845:Abca1	APN	4	53090297	missense	probably damaging	1.00
IGL02048:Abca1	APN	4	53069831	missense	probably damaging	1.00
IGL02249:Abca1	APN	4	53068739	nonsense	probably null
IGL02569:Abca1	APN	4	53034061	missense	probably damaging	1.00
IGL02622:Abca1	APN	4	53034046	missense	probably damaging	0.99
R6720_abca1_529	UTSW	4	53083733	missense	probably damaging	1.00
R0042:Abca1	UTSW	4	53059245	splice site	probably benign
R0042:Abca1	UTSW	4	53059245	splice site	probably benign
R0050:Abca1	UTSW	4	53069910	splice site	probably benign
R0107:Abca1	UTSW	4	53080834	missense	probably benign	0.00
R0127:Abca1	UTSW	4	53067155	missense	probably benign	0.00
R0178:Abca1	UTSW	4	53081953	missense	possibly damaging	0.89
R0207:Abca1	UTSW	4	53086039	missense	probably damaging	0.97
R0267:Abca1	UTSW	4	53046105	missense	probably damaging	1.00
R0269:Abca1	UTSW	4	53044228	missense	probably benign
R0586:Abca1	UTSW	4	53092860	missense	probably benign	0.00
R0587:Abca1	UTSW	4	53107035	missense	probably benign	0.00
R1403:Abca1	UTSW	4	53059253	splice site	probably benign
R1404:Abca1	UTSW	4	53059253	splice site	probably benign
R1405:Abca1	UTSW	4	53059253	splice site	probably benign
R1558:Abca1	UTSW	4	53092887	missense	probably null	0.00
R1655:Abca1	UTSW	4	53050964	missense	probably benign
R1662:Abca1	UTSW	4	53090251	splice site	probably null
R1769:Abca1	UTSW	4	53074325	missense	probably damaging	1.00
R1898:Abca1	UTSW	4	53071977	missense	probably benign	0.08
R1945:Abca1	UTSW	4	53061509	frame shift	probably null
R1966:Abca1	UTSW	4	53050409	missense	probably damaging	1.00
R2055:Abca1	UTSW	4	53069881	missense	probably benign
R2185:Abca1	UTSW	4	53089830	missense	probably benign	0.12
R2202:Abca1	UTSW	4	53090291	missense	probably damaging	0.96
R2203:Abca1	UTSW	4	53090291	missense	probably damaging	0.96
R2204:Abca1	UTSW	4	53090291	missense	probably damaging	0.96
R3056:Abca1	UTSW	4	53127626	missense	probably benign
R3849:Abca1	UTSW	4	53061481	splice site	probably benign
R3850:Abca1	UTSW	4	53061481	splice site	probably benign
R3906:Abca1	UTSW	4	53067151	missense	possibly damaging	0.84
R3908:Abca1	UTSW	4	53067151	missense	possibly damaging	0.84
R4050:Abca1	UTSW	4	53044144	missense	probably damaging	1.00
R4204:Abca1	UTSW	4	53090369	missense	probably benign	0.00
R4225:Abca1	UTSW	4	53085106	missense	possibly damaging	0.87
R4577:Abca1	UTSW	4	53062568	missense	possibly damaging	0.94
R4979:Abca1	UTSW	4	53085092	splice site	probably null
R5022:Abca1	UTSW	4	53041570	frame shift	probably null
R5168:Abca1	UTSW	4	53086070	missense	probably benign
R5363:Abca1	UTSW	4	53132963	missense	probably benign	0.00
R5439:Abca1	UTSW	4	53042381	missense	possibly damaging	0.55
R5604:Abca1	UTSW	4	53067168	splice site	probably null
R5614:Abca1	UTSW	4	53046132	missense	probably damaging	1.00
R5810:Abca1	UTSW	4	53079631	missense	probably benign
R6001:Abca1	UTSW	4	53075555	missense	possibly damaging	0.68
R6151:Abca1	UTSW	4	53085261	missense	probably benign
R6185:Abca1	UTSW	4	53078089	missense	probably benign	0.31
R6262:Abca1	UTSW	4	53092917	missense	probably benign	0.01
R6455:Abca1	UTSW	4	53042376	missense	probably damaging	0.98
R6472:Abca1	UTSW	4	53085991	critical splice donor site	probably null
R6564:Abca1	UTSW	4	53034031	missense	possibly damaging	0.85
R6720:Abca1	UTSW	4	53083733	missense	probably damaging	1.00
R6903:Abca1	UTSW	4	53143952	missense	probably benign	0.17
R6960:Abca1	UTSW	4	53072924	missense	probably benign	0.00
R7065:Abca1	UTSW	4	53074233	missense	probably damaging	0.98
R7142:Abca1	UTSW	4	53082050	missense	probably damaging	1.00
R7322:Abca1	UTSW	4	53067151	missense	probably damaging	0.97
R7520:Abca1	UTSW	4	53078114	missense	probably benign
R7547:Abca1	UTSW	4	53109269	missense	probably benign	0.02
R7793:Abca1	UTSW	4	53042367	missense	not run
R7863:Abca1	UTSW	4	53107179	missense	probably benign
R7877:Abca1	UTSW	4	53046135	missense	possibly damaging	0.55
R8010:Abca1	UTSW	4	53127600	missense	probably benign
R8058:Abca1	UTSW	4	53081954	missense	possibly damaging	0.60
R8181:Abca1	UTSW	4	53059303	missense	probably benign	0.21
RF005:Abca1	UTSW	4	53049125	missense	probably damaging	0.97
RF024:Abca1	UTSW	4	53049125	missense	probably damaging	0.97
X0023:Abca1	UTSW	4	53049038	missense	possibly damaging	0.91
Z1177:Abca1	UTSW	4	53079584	missense	probably benign	0.00
Z1177:Abca1	UTSW	4	53080799	missense	probably benign	0.01
Z1177:Abca1	UTSW	4	53086133	missense	possibly damaging	0.73

Posted On

2012-04-20