Mutagenetix > Incidental Mutations

Incidental Mutation 'R0269:Abca1'

35133

Institutional Source

Beutler Lab

Gene Symbol

Abca1

Ensembl Gene

ENSMUSG00000015243

Gene Name

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

Synonyms

ABC1

MMRRC Submission

038495-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0269 (G1)

Quality Score

117

Status

Validated

Chromosome

Chromosomal Location

53030787-53159895 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53044228 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1798 (D1798G)

Ref Sequence

ENSEMBL: ENSMUSP00000030010 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000030010
AA Change: D1798G

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

SMART Domains

Protein: ENSMUSP00000030010
Gene: ENSMUSG00000015243
AA Change: D1798G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.7%
3x: 97.8%
10x: 96.1%
20x: 93.6%

Validation Efficiency

100% (59/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	C	T	15: 84,954,000	V231I	possibly damaging	Het
Adcy2	T	A	13: 68,678,606	K660*	probably null	Het
Alk	G	T	17: 72,603,583	P43T	probably damaging	Het
Amhr2	T	C	15: 102,447,068	C189R	probably benign	Het
Arrb1	T	C	7: 99,594,677	L278P	probably damaging	Het
AW551984	T	C	9: 39,599,950	Y153C	probably damaging	Het
Bpifb1	A	G	2: 154,212,947	D253G	possibly damaging	Het
Bpifb9b	C	T	2: 154,319,625	T559M	probably benign	Het
Cd46	T	G	1: 195,064,688	I339L	probably benign	Het
Cdkn2aip	A	G	8: 47,711,977	S234P	probably damaging	Het
Chil3	T	C	3: 106,155,756	K173E	probably benign	Het
Csf2rb2	G	T	15: 78,288,865	T265N	probably benign	Het
Cyp2c40	A	G	19: 39,773,896	F436L	probably damaging	Het
D130040H23Rik	T	C	8: 69,300,794	F24S	probably benign	Het
Defb12	G	T	8: 19,114,359	A34E	probably damaging	Het
Fam234a	A	T	17: 26,216,617	D264E	probably benign	Het
Fbxl17	A	C	17: 63,384,992	F42V	probably damaging	Het
Gldc	T	A	19: 30,118,602	I670F	probably damaging	Het
Guf1	A	C	5: 69,559,599	Q168P	probably damaging	Het
Hcn2	A	G	10: 79,734,241		probably benign	Het
Hddc2	A	G	10: 31,327,946	M190V	probably benign	Het
Kcnq2	T	C	2: 181,096,974	E294G	probably benign	Het
Kdelr1	T	A	7: 45,874,039		probably benign	Het
Kidins220	T	A	12: 25,040,512	H1158Q	probably damaging	Het
Laptm5	A	T	4: 130,930,816	N185Y	probably benign	Het
Mgat4a	A	G	1: 37,490,307	Y164H	possibly damaging	Het
Mlh3	C	A	12: 85,268,405	V336L	probably benign	Het
Myadm	A	G	7: 3,296,757	T12A	unknown	Het
Nol8	T	C	13: 49,654,445	F46L	possibly damaging	Het
Ntrk1	T	C	3: 87,783,933	D308G	possibly damaging	Het
Olfr1036	A	G	2: 86,075,141	M134V	probably benign	Het
Olfr1196	A	G	2: 88,700,696	V211A	probably damaging	Het
Olfr313	T	C	11: 58,817,149	V47A	probably damaging	Het
Olfr466	A	T	13: 65,152,878	Y218F	possibly damaging	Het
Olfr954	T	C	9: 39,461,794	M118T	probably damaging	Het
Oog3	A	T	4: 144,160,214	V112D	probably benign	Het
Pramef17	A	G	4: 143,993,518		probably benign	Het
Prss39	A	T	1: 34,500,198	H173L	probably damaging	Het
Rabl6	A	G	2: 25,586,866		probably null	Het
Recql5	T	C	11: 115,928,224	D172G	possibly damaging	Het
Reln	T	C	5: 21,920,537	D2716G	probably damaging	Het
Rgs7	A	G	1: 175,270,820	S58P	possibly damaging	Het
Sema6d	T	A	2: 124,660,745	F583L	possibly damaging	Het
Sgsm1	T	C	5: 113,286,929		probably null	Het
Slc22a19	A	T	19: 7,709,621		probably benign	Het
Slc6a21	T	A	7: 45,286,908	Y428*	probably null	Het
Smarca4	T	G	9: 21,636,201	M260R	probably benign	Het
Smg6	C	A	11: 75,162,931	T1413K	probably benign	Het
Spata17	T	C	1: 187,097,872	I322V	probably benign	Het
Stxbp1	A	C	2: 32,802,783	I407S	probably damaging	Het
Sult1d1	A	T	5: 87,564,802	I61N	probably damaging	Het
Sytl2	T	C	7: 90,403,020		probably benign	Het
Tm4sf5	T	A	11: 70,510,669	S165T	probably damaging	Het
Tmx2	T	C	2: 84,672,396	D256G	probably benign	Het
Trmt11	T	A	10: 30,587,489	H210L	probably benign	Het
Ush2a	T	A	1: 188,810,176	M3313K	probably benign	Het
Zcchc6	A	T	13: 59,816,855		probably null	Het
Zfp955b	A	T	17: 33,305,463	S43R	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TCCAGTGATTTGACAAGCTCACCAG -3'
(R):5'- AGAGTTCCTGAGGAAAATCCCGCC -3'

Sequencing Primer
(F):5'- TTGACAAGCTCACCAGTAGTG -3'
(R):5'- GAAAATCCCGCCGCTGTTC -3'

Posted On

2013-05-09