Mutagenetix > Incidental Mutation

Incidental Mutation 'R7793:Abca1'

600017

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7793 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53030787-53159895 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53042367 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1902 (I1902V)

Ref Sequence

ENSEMBL: ENSMUSP00000030010 (fasta)

Gene Model

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

AlphaFold

P41233

Predicted Effect

not run
Transcript: ENSMUST00000030010
AA Change: I1902V

SMART Domains

Protein: ENSMUSP00000030010
Gene: ENSMUSG00000015243
AA Change: I1902V

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (94/94)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002J24Rik	T	G	7: 30,699,943	I54S	probably damaging	Het
2310002L09Rik	C	T	4: 73,942,935	V143M	probably benign	Het
2610507B11Rik	C	T	11: 78,273,205	P1124L	possibly damaging	Het
AI314180	T	C	4: 58,853,150	N395S	probably damaging	Het
Apob	A	C	12: 8,008,124	D2202A	probably damaging	Het
Arhgap44	T	A	11: 65,009,924	S623C	probably damaging	Het
Arhgef7	T	A	8: 11,824,507	W713R	possibly damaging	Het
Axdnd1	A	C	1: 156,338,743		probably null	Het
Bcl9l	T	C	9: 44,508,966	M1223T	probably benign	Het
Bcl9l	C	A	9: 44,509,697	H1467N	probably damaging	Het
Brinp3	A	G	1: 146,746,568	N236S	probably benign	Het
Cckbr	T	G	7: 105,433,591	L54V	probably benign	Het
Cd6	G	A	19: 10,798,358	Q246*	probably null	Het
Cep89	G	A	7: 35,429,928	R630H	probably damaging	Het
Ces3a	T	A	8: 105,055,661		probably null	Het
Cgnl1	T	A	9: 71,725,635	N145Y	probably damaging	Het
Col6a5	T	C	9: 105,898,735	D1707G	probably damaging	Het
Cyp2w1	A	G	5: 139,356,140	T103A	probably damaging	Het
Dip2a	A	T	10: 76,278,583	I1021N	probably benign	Het
Dnah2	T	C	11: 69,495,214	T981A	probably benign	Het
Dnah8	A	G	17: 30,855,944	I4546V	probably benign	Het
E2f8	A	C	7: 48,878,075	F106L	probably benign	Het
Eif4g1	G	A	16: 20,688,614	V1413I	probably benign	Het
Epha10	G	A	4: 124,914,453	V688I	probably benign	Het
Exoc2	A	T	13: 30,911,178	V245D	probably benign	Het
Eya4	T	A	10: 23,226,816	E23D	probably benign	Het
Fbxw10	T	A	11: 62,847,387	W36R	possibly damaging	Het
Gabbr1	G	A	17: 37,047,501	G44S	probably benign	Het
Gabrg3	T	A	7: 57,179,580	Q143L	probably benign	Het
Gm14412	A	C	2: 177,315,867	I78M	possibly damaging	Het
Gm35339	T	C	15: 76,359,107	L989P		Het
Gm3854	C	T	7: 6,353,887	S233L	probably damaging	Het
Gm7298	T	C	6: 121,760,604		probably null	Het
Hpse2	A	T	19: 43,388,070	L81Q	probably damaging	Het
Il18r1	A	G	1: 40,471,764	H3R	probably benign	Het
Kansl1l	T	C	1: 66,778,014	K396E	probably damaging	Het
Kbtbd3	T	A	9: 4,331,221	S532T	probably damaging	Het
Lrrtm4	T	C	6: 80,022,858	Y418H	probably damaging	Het
Mfng	G	A	15: 78,773,065	R70C	probably damaging	Het
Mx2	T	A	16: 97,546,883	I236K	probably damaging	Het
Mysm1	T	C	4: 94,965,132	Q410R	probably damaging	Het
Nlrp12	T	C	7: 3,245,400	N100S	probably benign	Het
Nlrp4b	T	A	7: 10,725,074	H773Q	probably benign	Het
Nlrp5	T	A	7: 23,423,918	S735T	possibly damaging	Het
Nt5c2	G	A	19: 46,891,581	R363W	probably benign	Het
Olfr139	T	A	11: 74,044,788	H162L	possibly damaging	Het
Olfr361	A	G	2: 37,084,921	F276L	possibly damaging	Het
Otud7b	A	T	3: 96,155,211	Y589F	probably benign	Het
P2rx1	T	A	11: 73,009,253	C165*	probably null	Het
Pax8	T	C	2: 24,429,597	D354G	possibly damaging	Het
Pdcd11	G	A	19: 47,106,432	V552I	probably benign	Het
Pde6c	G	T	19: 38,159,753	C485F	possibly damaging	Het
Pex5	T	C	6: 124,399,341	Y434C	probably benign	Het
Ppargc1a	T	C	5: 51,462,509		probably null	Het
Prss2	A	T	6: 41,524,952	D224V	possibly damaging	Het
Psd2	A	G	18: 36,002,979	N440S	probably benign	Het
Psmb3	T	A	11: 97,712,439	D159E	probably benign	Het
Ptgr2	T	G	12: 84,307,801	L252R	probably damaging	Het
Ptpro	A	T	6: 137,416,820	N829Y	probably damaging	Het
Rhobtb2	C	A	14: 69,796,831	R315L	probably benign	Het
Rimbp2	A	T	5: 128,789,695	V520D	possibly damaging	Het
Schip1	A	T	3: 68,494,578	Y24F	probably benign	Het
Sdha	A	T	13: 74,331,436	V432E	probably damaging	Het
Sez6	T	C	11: 77,977,600	L929P	probably damaging	Het
Shcbp1l	A	G	1: 153,447,825	I466V	probably benign	Het
Skor1	T	C	9: 63,144,885	S601G	probably damaging	Het
Slc6a7	A	C	18: 61,005,779	L219R	probably damaging	Het
Smok2a	T	C	17: 13,225,626	M30T	possibly damaging	Het
Sp8	A	G	12: 118,849,409	D333G	probably damaging	Het
Spp1	G	A	5: 104,440,334	D201N	probably damaging	Het
Sstr3	A	T	15: 78,540,388	L53Q	probably damaging	Het
Tacc2	T	A	7: 130,623,113	N509K	probably benign	Het
Tdrd1	T	C	19: 56,864,377	V1030A	probably damaging	Het
Tfrc	A	G	16: 32,619,167	K346R	probably benign	Het
Tgm3	G	A	2: 130,012,410		probably null	Het
Tomm5	C	A	4: 45,106,651	L88F	unknown	Het
Trak1	T	A	9: 121,416,198	C46*	probably null	Het
Trim8	A	T	19: 46,515,614	D535V	probably damaging	Het
Trpm7	A	T	2: 126,824,075	Y870*	probably null	Het
Tspoap1	T	C	11: 87,764,310	L286P	probably benign	Het
Ttll3	AAGTA	AAGTAGAGTA	6: 113,399,159		probably null	Het
Ttn	T	A	2: 76,732,045	I28819F	probably damaging	Het
Twf2	T	C	9: 106,211,880	S89P	probably damaging	Het
Ulk4	C	T	9: 121,263,668	E168K	possibly damaging	Het
Unc13b	T	A	4: 43,172,737	N1188K	unknown	Het
Utp6	C	T	11: 79,937,730	V528I	probably benign	Het
Vmn1r78	T	C	7: 12,153,314	F284S	probably benign	Het
Vmn2r54	T	A	7: 12,632,269	Q246L	probably damaging	Het
Vmn2r87	A	G	10: 130,477,544	M451T	probably benign	Het
Vwf	C	T	6: 125,686,520	P2808L		Het
Wwc1	T	C	11: 35,869,109	Q693R	probably benign	Het
Zfp658	T	A	7: 43,574,684	H794Q	possibly damaging	Het
Zfp882	A	G	8: 71,913,141	D8G	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
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
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
R9483:Abca1	UTSW	4	53060351	missense	probably benign	0.11
R9532:Abca1	UTSW	4	53109284	missense	probably benign
R9621:Abca1	UTSW	4	53092918	missense	probably benign	0.00
R9638:Abca1	UTSW	4	53092806	missense	probably damaging	0.96
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

Posted On

2019-11-26