Mutagenetix > Incidental Mutation

Incidental Mutation 'R0050:Abca1'

16124

Institutional Source

Beutler Lab

Gene Symbol

Abca1

Ensembl Gene

ENSMUSG00000015243

Gene Name

ATP-binding cassette, sub-family A member 1

Synonyms

ABC1

MMRRC Submission

038344-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0050 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

53030787-53159895 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 53069910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030010 (fasta)

Gene Model

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

AlphaFold

P41233

Predicted Effect

probably benign
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

1x: 88.6%
3x: 85.4%
10x: 76.7%
20x: 62.7%

Validation Efficiency

90% (86/96)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	C	T	11: 110,036,417 (GRCm39)	C564Y	probably damaging	Het
Abhd14a	A	T	9: 106,318,082 (GRCm39)		probably benign	Het
Acnat2	G	A	4: 49,380,586 (GRCm39)	T264I	probably benign	Het
Adamts2	T	C	11: 50,666,222 (GRCm39)	V406A	probably damaging	Het
Adcy5	A	G	16: 35,124,673 (GRCm39)		probably benign	Het
Akr1c13	T	C	13: 4,244,669 (GRCm39)		probably benign	Het
Ankar	T	A	1: 72,695,323 (GRCm39)	E1093D	probably damaging	Het
Arhgef38	C	A	3: 132,837,957 (GRCm39)	D75Y	probably damaging	Het
Asns	T	C	6: 7,676,019 (GRCm39)	I484V	probably benign	Het
Astn1	T	C	1: 158,407,294 (GRCm39)		probably benign	Het
Atg4b	T	A	1: 93,715,440 (GRCm39)		probably benign	Het
Cadm2	A	G	16: 66,750,154 (GRCm39)		probably benign	Het
Ces2c	T	A	8: 105,574,831 (GRCm39)	M96K	probably benign	Het
Cpd	T	A	11: 76,683,685 (GRCm39)	T1025S	possibly damaging	Het
Daw1	T	C	1: 83,158,086 (GRCm39)	V45A	probably benign	Het
Dmrt3	C	A	19: 25,599,953 (GRCm39)	P266H	probably damaging	Het
Dnah10	A	G	5: 124,907,808 (GRCm39)	T4416A	probably benign	Het
Dock9	A	G	14: 121,844,637 (GRCm39)	V1124A	probably benign	Het
Ermp1	C	A	19: 29,606,184 (GRCm39)	A190S	probably damaging	Het
Gm10267	T	A	18: 44,289,520 (GRCm39)		probably benign	Het
Golga2	T	A	2: 32,182,139 (GRCm39)	V29D	probably damaging	Het
Gprc6a	T	A	10: 51,491,485 (GRCm39)	M755L	probably damaging	Het
H1f8	G	T	6: 115,924,729 (GRCm39)	K78N	probably damaging	Het
Lama1	A	T	17: 68,089,051 (GRCm39)	D1574V	possibly damaging	Het
Lama3	T	A	18: 12,537,160 (GRCm39)	H268Q	probably damaging	Het
Lmntd1	T	C	6: 145,363,202 (GRCm39)	D107G	probably damaging	Het
Lrriq1	A	G	10: 102,904,792 (GRCm39)	V1614A	probably damaging	Het
Mmp12	A	G	9: 7,350,152 (GRCm39)		probably benign	Het
Mre11a	A	G	9: 14,742,269 (GRCm39)		probably benign	Het
Mtrf1l	T	C	10: 5,765,553 (GRCm39)		silent	Het
Oaz2	A	G	9: 65,595,084 (GRCm39)	E61G	probably damaging	Het
Parp3	A	T	9: 106,348,600 (GRCm39)	D473E	possibly damaging	Het
Pear1	G	T	3: 87,663,294 (GRCm39)	Y441*	probably null	Het
Pkhd1l1	A	T	15: 44,437,203 (GRCm39)	T3493S	possibly damaging	Het
Ppp3cb	A	G	14: 20,581,820 (GRCm39)	V65A	possibly damaging	Het
Rheb	A	T	5: 25,022,832 (GRCm39)		probably benign	Het
Ros1	G	A	10: 51,977,899 (GRCm39)	T1449M	probably damaging	Het
Scn4a	C	G	11: 106,211,682 (GRCm39)	R1445P	probably damaging	Het
Sema3d	T	A	5: 12,634,920 (GRCm39)	M662K	probably benign	Het
Skp2	A	G	15: 9,125,178 (GRCm39)	F134L	probably benign	Het
Slc6a12	T	C	6: 121,337,378 (GRCm39)		probably benign	Het
Slc8a3	T	C	12: 81,362,039 (GRCm39)	Y260C	probably damaging	Het
Spin1	T	A	13: 51,304,454 (GRCm39)		probably benign	Het
Stx2	A	G	5: 129,076,572 (GRCm39)		probably null	Het
Sycp2	A	T	2: 178,006,504 (GRCm39)	V863D	probably damaging	Het
Tgfb3	T	A	12: 86,116,658 (GRCm39)	I127F	possibly damaging	Het
Tgif1	T	G	17: 71,157,879 (GRCm39)	K2Q	probably damaging	Het
Trmt2a	A	T	16: 18,068,707 (GRCm39)	E234D	probably damaging	Het
Trps1	A	T	15: 50,628,921 (GRCm39)	S696T	probably benign	Het
Ucp1	A	G	8: 84,020,857 (GRCm39)	E191G	probably damaging	Het
Usp48	C	A	4: 137,341,114 (GRCm39)	D371E	probably damaging	Het
Usp54	A	T	14: 20,623,823 (GRCm39)		probably benign	Het

Other mutations in Abca1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Abca1	APN	4	53,059,255 (GRCm39)	critical splice donor site	probably null
IGL00778:Abca1	APN	4	53,086,132 (GRCm39)	missense	probably benign
IGL01013:Abca1	APN	4	53,038,185 (GRCm39)	nonsense	probably null
IGL01510:Abca1	APN	4	53,143,979 (GRCm39)	missense	probably damaging	0.97
IGL01608:Abca1	APN	4	53,038,158 (GRCm39)	missense	probably damaging	1.00
IGL01845:Abca1	APN	4	53,090,297 (GRCm39)	missense	probably damaging	1.00
IGL02048:Abca1	APN	4	53,069,831 (GRCm39)	missense	probably damaging	1.00
IGL02249:Abca1	APN	4	53,068,739 (GRCm39)	nonsense	probably null
IGL02569:Abca1	APN	4	53,034,061 (GRCm39)	missense	probably damaging	1.00
IGL02622:Abca1	APN	4	53,034,046 (GRCm39)	missense	probably damaging	0.99
R6720_abca1_529	UTSW	4	53,083,733 (GRCm39)	missense	probably damaging	1.00
R0042:Abca1	UTSW	4	53,059,245 (GRCm39)	splice site	probably benign
R0042:Abca1	UTSW	4	53,059,245 (GRCm39)	splice site	probably benign
R0107:Abca1	UTSW	4	53,080,834 (GRCm39)	missense	probably benign	0.00
R0127:Abca1	UTSW	4	53,067,155 (GRCm39)	missense	probably benign	0.00
R0178:Abca1	UTSW	4	53,081,953 (GRCm39)	missense	possibly damaging	0.89
R0207:Abca1	UTSW	4	53,086,039 (GRCm39)	missense	probably damaging	0.97
R0267:Abca1	UTSW	4	53,046,105 (GRCm39)	missense	probably damaging	1.00
R0269:Abca1	UTSW	4	53,044,228 (GRCm39)	missense	probably benign
R0586:Abca1	UTSW	4	53,092,860 (GRCm39)	missense	probably benign	0.00
R0587:Abca1	UTSW	4	53,107,035 (GRCm39)	missense	probably benign	0.00
R1403:Abca1	UTSW	4	53,059,253 (GRCm39)	splice site	probably benign
R1404:Abca1	UTSW	4	53,059,253 (GRCm39)	splice site	probably benign
R1405:Abca1	UTSW	4	53,059,253 (GRCm39)	splice site	probably benign
R1558:Abca1	UTSW	4	53,092,887 (GRCm39)	missense	probably null	0.00
R1655:Abca1	UTSW	4	53,050,964 (GRCm39)	missense	probably benign
R1662:Abca1	UTSW	4	53,090,251 (GRCm39)	splice site	probably null
R1769:Abca1	UTSW	4	53,074,325 (GRCm39)	missense	probably damaging	1.00
R1898:Abca1	UTSW	4	53,071,977 (GRCm39)	missense	probably benign	0.08
R1945:Abca1	UTSW	4	53,061,509 (GRCm39)	frame shift	probably null
R1966:Abca1	UTSW	4	53,050,409 (GRCm39)	missense	probably damaging	1.00
R2055:Abca1	UTSW	4	53,069,881 (GRCm39)	missense	probably benign
R2185:Abca1	UTSW	4	53,089,830 (GRCm39)	missense	probably benign	0.12
R2202:Abca1	UTSW	4	53,090,291 (GRCm39)	missense	probably damaging	0.96
R2203:Abca1	UTSW	4	53,090,291 (GRCm39)	missense	probably damaging	0.96
R2204:Abca1	UTSW	4	53,090,291 (GRCm39)	missense	probably damaging	0.96
R3056:Abca1	UTSW	4	53,127,626 (GRCm39)	missense	probably benign
R3849:Abca1	UTSW	4	53,061,481 (GRCm39)	splice site	probably benign
R3850:Abca1	UTSW	4	53,061,481 (GRCm39)	splice site	probably benign
R3906:Abca1	UTSW	4	53,067,151 (GRCm39)	missense	possibly damaging	0.84
R3908:Abca1	UTSW	4	53,067,151 (GRCm39)	missense	possibly damaging	0.84
R4050:Abca1	UTSW	4	53,044,144 (GRCm39)	missense	probably damaging	1.00
R4204:Abca1	UTSW	4	53,090,369 (GRCm39)	missense	probably benign	0.00
R4225:Abca1	UTSW	4	53,085,106 (GRCm39)	missense	possibly damaging	0.87
R4577:Abca1	UTSW	4	53,062,568 (GRCm39)	missense	possibly damaging	0.94
R4979:Abca1	UTSW	4	53,085,092 (GRCm39)	splice site	probably null
R5022:Abca1	UTSW	4	53,041,570 (GRCm39)	frame shift	probably null
R5168:Abca1	UTSW	4	53,086,070 (GRCm39)	missense	probably benign
R5363:Abca1	UTSW	4	53,132,963 (GRCm39)	missense	probably benign	0.00
R5439:Abca1	UTSW	4	53,042,381 (GRCm39)	missense	possibly damaging	0.55
R5604:Abca1	UTSW	4	53,067,168 (GRCm39)	splice site	probably null
R5614:Abca1	UTSW	4	53,046,132 (GRCm39)	missense	probably damaging	1.00
R5810:Abca1	UTSW	4	53,079,631 (GRCm39)	missense	probably benign
R6001:Abca1	UTSW	4	53,075,555 (GRCm39)	missense	possibly damaging	0.68
R6151:Abca1	UTSW	4	53,085,261 (GRCm39)	missense	probably benign
R6185:Abca1	UTSW	4	53,078,089 (GRCm39)	missense	probably benign	0.31
R6262:Abca1	UTSW	4	53,092,917 (GRCm39)	missense	probably benign	0.01
R6455:Abca1	UTSW	4	53,042,376 (GRCm39)	missense	probably damaging	0.98
R6472:Abca1	UTSW	4	53,085,991 (GRCm39)	critical splice donor site	probably null
R6564:Abca1	UTSW	4	53,034,031 (GRCm39)	missense	possibly damaging	0.85
R6720:Abca1	UTSW	4	53,083,733 (GRCm39)	missense	probably damaging	1.00
R6903:Abca1	UTSW	4	53,143,952 (GRCm39)	missense	probably benign	0.17
R6960:Abca1	UTSW	4	53,072,924 (GRCm39)	missense	probably benign	0.00
R7065:Abca1	UTSW	4	53,074,233 (GRCm39)	missense	probably damaging	0.98
R7142:Abca1	UTSW	4	53,082,050 (GRCm39)	missense	probably damaging	1.00
R7322:Abca1	UTSW	4	53,067,151 (GRCm39)	missense	probably damaging	0.97
R7520:Abca1	UTSW	4	53,078,114 (GRCm39)	missense	probably benign
R7547:Abca1	UTSW	4	53,109,269 (GRCm39)	missense	probably benign	0.02
R7793:Abca1	UTSW	4	53,042,367 (GRCm39)	missense	not run
R7863:Abca1	UTSW	4	53,107,179 (GRCm39)	missense	probably benign
R7877:Abca1	UTSW	4	53,046,135 (GRCm39)	missense	possibly damaging	0.55
R8010:Abca1	UTSW	4	53,127,600 (GRCm39)	missense	probably benign
R8058:Abca1	UTSW	4	53,081,954 (GRCm39)	missense	possibly damaging	0.60
R8181:Abca1	UTSW	4	53,059,303 (GRCm39)	missense	probably benign	0.21
R8471:Abca1	UTSW	4	53,044,187 (GRCm39)	missense	probably damaging	1.00
R8774:Abca1	UTSW	4	53,090,358 (GRCm39)	missense	possibly damaging	0.89
R8774-TAIL:Abca1	UTSW	4	53,090,358 (GRCm39)	missense	possibly damaging	0.89
R8806:Abca1	UTSW	4	53,084,520 (GRCm39)	missense	probably benign	0.17
R8841:Abca1	UTSW	4	53,143,925 (GRCm39)	splice site	probably benign
R9081:Abca1	UTSW	4	53,109,162 (GRCm39)	critical splice donor site	probably null
R9483:Abca1	UTSW	4	53,060,351 (GRCm39)	missense	probably benign	0.11
R9532:Abca1	UTSW	4	53,109,284 (GRCm39)	missense	probably benign
R9621:Abca1	UTSW	4	53,092,918 (GRCm39)	missense	probably benign	0.00
R9638:Abca1	UTSW	4	53,092,806 (GRCm39)	missense	probably damaging	0.96
RF005:Abca1	UTSW	4	53,049,125 (GRCm39)	missense	probably damaging	0.97
RF024:Abca1	UTSW	4	53,049,125 (GRCm39)	missense	probably damaging	0.97
X0023:Abca1	UTSW	4	53,049,038 (GRCm39)	missense	possibly damaging	0.91
Z1177:Abca1	UTSW	4	53,086,133 (GRCm39)	missense	possibly damaging	0.73
Z1177:Abca1	UTSW	4	53,080,799 (GRCm39)	missense	probably benign	0.01
Z1177:Abca1	UTSW	4	53,079,584 (GRCm39)	missense	probably benign	0.00

Posted On

2013-01-08