Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01608:Abca1'

91849

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 #

IGL01608

Quality Score

Status

Chromosome

Chromosomal Location

53030787-53159895 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53038158 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 2068 (L2068Q)

Ref Sequence

ENSEMBL: ENSMUSP00000030010 (fasta)

Gene Model

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

AlphaFold

P41233

Predicted Effect

probably damaging
Transcript: ENSMUST00000030010
AA Change: L2068Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030010
Gene: ENSMUSG00000015243
AA Change: L2068Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149127

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732456N10Rik	A	G	15: 101,562,629	I66T	probably benign	Het
Abca12	G	T	1: 71,259,442	D2340E	probably damaging	Het
Adcy5	A	G	16: 35,272,165	Y632C	probably damaging	Het
Adgrb3	A	G	1: 25,553,774	S311P	probably damaging	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
AF529169	T	C	9: 89,596,498	T832A	probably benign	Het
Atf2	G	T	2: 73,819,078	H396Q	probably damaging	Het
Atp8a1	G	A	5: 67,813,136	R74*	probably null	Het
Brpf3	T	C	17: 28,821,517	S971P	probably benign	Het
Btn1a1	T	C	13: 23,461,608	E197G	probably benign	Het
Ccdc136	C	T	6: 29,406,114	A87V	possibly damaging	Het
Celf4	A	G	18: 25,497,503	L376P	probably damaging	Het
Chrm3	G	A	13: 9,878,598	A134V	possibly damaging	Het
Col19a1	G	A	1: 24,282,545	R961C	probably damaging	Het
Cr2	A	G	1: 195,155,220	V1190A	possibly damaging	Het
Dopey1	T	A	9: 86,507,561	S515T	probably benign	Het
Eprs	T	A	1: 185,385,114		probably benign	Het
Fbn2	G	T	18: 58,053,704	Y1708*	probably null	Het
Glt1d1	A	G	5: 127,664,682	N148S	possibly damaging	Het
Gm20425	T	A	9: 103,191,094	I44F	probably damaging	Het
Gpr22	T	A	12: 31,708,780	K411*	probably null	Het
Ipo11	A	G	13: 106,834,494		probably benign	Het
Klri1	T	A	6: 129,698,167	N210I	possibly damaging	Het
Kmt2c	C	T	5: 25,354,811	V950M	probably damaging	Het
Knop1	T	C	7: 118,845,796	K315R	probably benign	Het
Lrrc32	T	A	7: 98,499,357	V448D	probably benign	Het
Met	T	C	6: 17,558,730	V1119A	probably damaging	Het
Mipep	T	A	14: 60,802,230	I236N	possibly damaging	Het
Mrpl45	A	G	11: 97,316,921	T81A	probably benign	Het
Mtbp	G	T	15: 55,557,689	E24*	probably null	Het
Muc5b	C	T	7: 141,846,437	T476I	unknown	Het
Mup6	C	T	4: 60,006,021	T163I	probably benign	Het
Myo1g	T	A	11: 6,516,780	I278F	possibly damaging	Het
Myo9a	A	T	9: 59,870,836	K1292*	probably null	Het
Nbeal1	T	A	1: 60,242,535		probably benign	Het
Nck1	C	A	9: 100,497,387	R270S	probably benign	Het
Neb	T	C	2: 52,170,536	E6035G	probably damaging	Het
Nlrp4f	A	C	13: 65,195,543	L96*	probably null	Het
Olfr1250	A	T	2: 89,656,491		probably benign	Het
Olfr141	A	C	2: 86,806,425	Y191*	probably null	Het
Olfr606	A	T	7: 103,451,804	I156F	probably benign	Het
Olfr738	A	T	14: 50,414,453	H303L	probably benign	Het
Padi2	A	G	4: 140,932,230	E282G	probably damaging	Het
Pcdhb4	A	G	18: 37,308,750	D371G	probably damaging	Het
Pcdhb8	A	G	18: 37,356,925	D552G	probably damaging	Het
Peli3	A	G	19: 4,932,827	I270T	probably damaging	Het
Phf20	A	G	2: 156,276,596	M407V	probably benign	Het
Ppm1h	C	T	10: 122,941,280	R103*	probably null	Het
Rangap1	C	T	15: 81,709,504	V457M	probably benign	Het
Scube2	A	G	7: 109,843,254	V257A	probably benign	Het
Shc1	C	A	3: 89,424,849	Q204K	probably damaging	Het
Slc6a4	T	A	11: 77,027,135	Y568N	probably damaging	Het
Srgap3	A	G	6: 112,946,478	F7L	probably benign	Het
St6galnac4	T	A	2: 32,594,086	C99S	probably damaging	Het
Strc	T	C	2: 121,375,594	D779G	probably benign	Het
Supt6	A	T	11: 78,225,483	Y685N	probably damaging	Het
Traf3ip3	T	C	1: 193,187,110	T256A	probably benign	Het
Vmn1r74	A	T	7: 11,847,633	I287F	probably damaging	Het
Zmym2	C	A	14: 56,948,015	Q1035K	possibly damaging	Het
Zswim3	G	A	2: 164,821,520	R640H	probably damaging	Het

Other mutations in Abca1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Abca1	APN	4	53059255	critical splice donor site	probably null
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
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
R8471:Abca1	UTSW	4	53044187	missense	probably damaging	1.00
R8774:Abca1	UTSW	4	53090358	missense	possibly damaging	0.89
R8774-TAIL:Abca1	UTSW	4	53090358	missense	possibly damaging	0.89
R8806:Abca1	UTSW	4	53084520	missense	probably benign	0.17
R8841:Abca1	UTSW	4	53143925	splice site	probably benign
R9081:Abca1	UTSW	4	53109162	critical splice donor site	probably null
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

2013-12-09