Mutagenetix > Incidental Mutation

Incidental Mutation 'RF024:Abca1'

604040

Institutional Source

Beutler Lab

Gene Symbol

Abca1

Ensembl Gene

ENSMUSG00000015243

Gene Name

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

Synonyms

ABC1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

RF024 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53030787-53159895 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 53049125 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 1651 (T1651N)

Ref Sequence

ENSEMBL: ENSMUSP00000030010 (fasta)

Gene Model

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

AlphaFold

P41233

Predicted Effect

probably damaging
Transcript: ENSMUST00000030010
AA Change: T1651N

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030010
Gene: ENSMUSG00000015243
AA Change: T1651N

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: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.3%

Validation Efficiency

98% (55/56)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	TACCTG	17: 24,287,732		probably null	Het
Adgra3	A	T	5: 50,013,387		probably null	Het
Ank1	T	A	8: 23,119,344	F1380I	probably benign	Het
Apcs	A	T	1: 172,894,242	M179K	probably damaging	Het
Asb7	C	T	7: 66,647,883	R287Q	probably damaging	Het
Begain	G	GCCGCCT	12: 109,033,437		probably null	Het
Cacna2d1	A	G	5: 16,025,776	T69A	possibly damaging	Het
Ccdc170	CCA	CCAACA	10: 4,561,024		probably benign	Het
Ccdc69	A	G	11: 55,060,523	L24P	probably damaging	Het
Cdh16	T	G	8: 104,617,052	N604T	probably damaging	Het
Crybg1	A	G	10: 44,004,745	V149A	probably benign	Het
Cyb5r4	ACACTGCCCAGGGA	ACACTGCCCAGGGATGTGACAGACGCACTGCCCAGGGA	9: 87,040,435		probably benign	Het
Dnmt1	CAGTTCCTACCTCGTT	CAGTTCCTACCTCGTTTTGGGGGCGGAGCAAAGTTCCTACCTCGTT	9: 20,910,130		probably null	Het
Dnmt1	ACCTCGTT	ACCTCGTTTTGGGGGCGGAGCACAGTTCCTCCCTCGTT	9: 20,910,138		probably benign	Het
Efhd2	CCGCCG	CCGCCGACGCCG	4: 141,874,762		probably benign	Het
Enah	GTGGCGGC	G	1: 181,921,934		probably null	Het
Entpd2	CTT	CTTT	2: 25,400,895		probably null	Het
Epha2	CCCCC	CCCCCC	4: 141,323,406		unknown	Het
Fam114a2	T	C	11: 57,493,033	T359A	probably benign	Het
Farp1	A	G	14: 121,237,148	I258V	probably damaging	Het
Fbxw28	G	T	9: 109,338,526	Y54*	probably null	Het
Gabre	CAGGCTCA	C	X: 72,270,177		probably null	Het
Gm17660	A	C	5: 104,074,859		probably null	Het
Gprc5d	A	T	6: 135,116,519	L130Q	probably damaging	Het
H13	G	A	2: 152,669,669	E30K	probably damaging	Het
Herc2	C	T	7: 56,226,525	R4429C	probably damaging	Het
Kif21b	A	T	1: 136,158,341	T817S	probably damaging	Het
Kl	A	C	5: 150,953,420	Y235S	probably benign	Het
Klk5	T	A	7: 43,842,374	V20D	possibly damaging	Het
Krtap28-10	TCCCACA	TCCCACACCCACA	1: 83,042,123		probably benign	Het
Krtap28-10	CAC	CACGACAGCCACAGCAAC	1: 83,042,252		probably benign	Het
Lamc2	T	A	1: 153,152,055	T208S	possibly damaging	Het
Map1a	GCTCCAGCTCCA	GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCA	2: 121,306,307		probably benign	Het
Map3k5	A	T	10: 20,100,172	N804I	probably damaging	Het
Map6d1	G	A	16: 20,241,000	T105I	probably benign	Het
Mbd1	TGTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	TATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	18: 74,273,573		probably benign	Het
Mbd1	GTCTTCGTCTGCATCTGCATCTGCATCT	GTCT	18: 74,273,610		probably benign	Het
Mkl1	TTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	15: 81,018,255		probably benign	Het
Mrgprx1	A	AGAC	7: 48,021,511		probably benign	Het
Mroh2a	C	A	1: 88,242,485	L710M	probably damaging	Het
Msmb	A	G	14: 32,158,090	D79G	probably damaging	Het
Nab2	A	T	10: 127,664,364	D286E	probably benign	Het
Nrxn1	G	A	17: 90,362,876	R1144C	probably damaging	Het
Otog	A	T	7: 46,287,669	T1601S	probably damaging	Het
Pan2	G	A	10: 128,315,535	E842K	probably benign	Het
Pcca	C	T	14: 122,684,898	T357I	probably damaging	Het
Pcnx	C	T	12: 81,917,727	P223S	probably damaging	Het
Prop1	A	C	11: 50,951,130	Y150D	possibly damaging	Het
Prss56	T	C	1: 87,187,170	L465P	probably benign	Het
Psip1	T	C	4: 83,460,498	I353M	probably damaging	Het
Rapgef3	A	C	15: 97,760,740	H170Q	probably benign	Het
Rasal2	A	T	1: 157,147,790	S1150T	probably damaging	Het
Rtbdn	C	CAGCGGA	8: 84,956,179		probably benign	Het
Sap30bp	T	A	11: 115,960,507	I135N	probably damaging	Het
Sbp	ATG	ATGCTGACAACAAAGCTG	17: 23,945,387		probably benign	Het
Slc35e4	A	T	11: 3,907,960	L215Q	possibly damaging	Het
Slc6a20b	A	T	9: 123,598,342		probably benign	Het
Smarca2	CAGC	CAGCCCAAGC	19: 26,631,020		probably benign	Het
Surf4	A	T	2: 26,922,167	I183N	probably benign	Het
Tcof1	CAG	CAGAAG	18: 60,835,738		probably benign	Het
Timm23	T	A	14: 32,180,555	*210C	probably null	Het
Tnfaip8	ACACACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	AC	18: 50,046,831		probably benign	Het
Trim66	A	T	7: 109,460,740	L813Q	possibly damaging	Het
Trip10	G	A	17: 57,255,045	A224T	probably benign	Het
Ttn	T	C	2: 76,907,599	T4245A	unknown	Het
Ttn	T	A	2: 76,908,025	I4103F	unknown	Het
Ubn2	T	A	6: 38,463,628	M313K	probably damaging	Het
Ubr5	T	C	15: 38,028,652	N521S		Het
Utp20	A	T	10: 88,825,457	D29E	probably damaging	Het
Vmn2r60	T	A	7: 42,140,939	V450E	probably benign	Het
Wdr66	GAGGAGGAAGAGGAGGAAGAGGAGGGGGAGAAGGAG	GAGGAGGAAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGGAAGAGGAGGAAGAGGAGGGGGAGAAGGAG	5: 123,253,883		probably benign	Het
Wdr66	GGAAGAGGAGGAAGAGGAGGGGGAGAAGGAG	GGAAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGGAAGAGGAGGAAGAGGAGGGGGAGAAGGAG	5: 123,253,888		probably benign	Het
Wdr66	GAAGAGGAGGAAGAGGAGGGGGAGAAGGAG	GAAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGAAAGAGGAGGAAGAGGAGGGGGAGAAGGAG	5: 123,253,889		probably benign	Het
Wnt6	A	T	1: 74,782,821	D187V	probably damaging	Het
Zc3h14	T	C	12: 98,758,861	C261R	probably damaging	Het
Zfp384	GCCCAGGC	GCCCAGGCCCAGCCCCAGGC	6: 125,036,489		probably benign	Het
Zfp395	C	T	14: 65,385,425	S3F	unknown	Het
Zfp583	T	A	7: 6,316,982	I344F	probably damaging	Het
Zfp599	A	C	9: 22,253,884	V65G	probably benign	Het
Zfp808	T	C	13: 62,171,299	V114A	probably benign	Het
Zfp933	G	A	4: 147,826,441	H233Y	probably damaging	Het
Znrd1as	CACCACCACCACCAC	CACCACCACCACCACCACCACTACCACCACCACCAC	17: 36,965,057		probably benign	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
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
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
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'- GTGTCCTCACCATATCCCAG -3'
(R):5'- AATGACCGCTATTAGGCCAC -3'

Sequencing Primer
(F):5'- CCAGACAAAATTGGACAGCCAGTAG -3'
(R):5'- CTGTAGTTTCATTATGGGAGTAGACC -3'

Posted On

2019-12-04