Mutagenetix > Incidental Mutation

Incidental Mutation 'R7547:Abca1'

584248

Institutional Source

Beutler Lab

Gene Symbol

Abca1

Ensembl Gene

ENSMUSG00000015243

Gene Name

ATP-binding cassette, sub-family A member 1

Synonyms

ABC1

MMRRC Submission

045618-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7547 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53030787-53159895 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53109269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 146 (D146E)

Ref Sequence

ENSEMBL: ENSMUSP00000030010 (fasta)

Gene Model

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

AlphaFold

P41233

Predicted Effect

probably benign
Transcript: ENSMUST00000030010
AA Change: D146E

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000030010
Gene: ENSMUSG00000015243
AA Change: D146E

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: 99.7%
20x: 99.1%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	C	T	8: 84,665,513 (GRCm39)	A1400V	probably benign	Het
Ank2	A	G	3: 126,738,852 (GRCm39)	V2344A	unknown	Het
Anxa2r2	A	T	13: 120,488,457 (GRCm39)	F31I	probably damaging	Het
Aplnr	A	T	2: 84,967,521 (GRCm39)	D182V	probably damaging	Het
Asb4	C	T	6: 5,398,350 (GRCm39)	P105L	probably damaging	Het
Ate1	C	A	7: 130,106,539 (GRCm39)	R274I	probably benign	Het
Ccdc43	A	G	11: 102,582,948 (GRCm39)	V92A	probably benign	Het
Cfap69	T	A	5: 5,654,290 (GRCm39)	N548I	possibly damaging	Het
Clpb	A	G	7: 101,313,503 (GRCm39)		probably null	Het
Ctnnal1	G	A	4: 56,817,032 (GRCm39)	R597C	probably damaging	Het
Dchs2	A	G	3: 83,263,434 (GRCm39)	K3234R	probably damaging	Het
Dnah7a	T	A	1: 53,702,996 (GRCm39)	K151N	probably benign	Het
Dnah7b	T	A	1: 46,253,573 (GRCm39)	I1826K	possibly damaging	Het
Dnttip1	A	G	2: 164,609,799 (GRCm39)	K289E	probably benign	Het
Eppk1	G	T	15: 75,991,740 (GRCm39)	Q1714K	probably benign	Het
Exoc4	A	G	6: 33,816,056 (GRCm39)	D674G	possibly damaging	Het
Galnt7	A	T	8: 58,036,996 (GRCm39)	V131D	possibly damaging	Het
Glg1	C	T	8: 111,914,393 (GRCm39)	V464M	possibly damaging	Het
Hlcs	G	T	16: 94,032,031 (GRCm39)	S444*	probably null	Het
Larp1	G	T	11: 57,943,405 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,335,410 (GRCm39)	Y4386C	probably damaging	Het
Mapt	A	G	11: 104,213,138 (GRCm39)		probably null	Het
Neb	C	T	2: 52,172,637 (GRCm39)	V1557I	probably benign	Het
Nid2	A	G	14: 19,847,345 (GRCm39)	T953A	probably benign	Het
Or5b105	T	C	19: 13,080,407 (GRCm39)	D87G	not run	Het
Pax3	G	A	1: 78,099,231 (GRCm39)	Q319*	probably null	Het
Ppp2r1b	T	A	9: 50,773,762 (GRCm39)	S212R	probably benign	Het
Prss29	T	C	17: 25,539,896 (GRCm39)	L98P	probably damaging	Het
Ptch2	T	G	4: 116,967,161 (GRCm39)	L646R	probably damaging	Het
Rasa2	T	A	9: 96,493,474 (GRCm39)	E70V	probably damaging	Het
Serf2	A	G	2: 121,281,256 (GRCm39)	N65S	possibly damaging	Het
Serpinb6b	G	A	13: 33,158,907 (GRCm39)	G155D	probably benign	Het
Serpinb6c	A	G	13: 34,077,875 (GRCm39)	I165T	possibly damaging	Het
Skint5	A	T	4: 113,483,785 (GRCm39)	V949E	unknown	Het
Slc11a2	A	G	15: 100,295,651 (GRCm39)	I490T	possibly damaging	Het
Slx4	T	C	16: 3,803,436 (GRCm39)	D1126G	probably benign	Het
Tent4a	G	T	13: 69,681,823 (GRCm39)	P160Q	probably benign	Het
Tln1	G	T	4: 43,545,206 (GRCm39)	A1003E	possibly damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Trav21-dv12	T	C	14: 54,114,072 (GRCm39)	V64A	probably damaging	Het
U2surp	T	C	9: 95,361,402 (GRCm39)	E620G	possibly damaging	Het
Usp3	T	C	9: 66,449,906 (GRCm39)	N179S	possibly damaging	Het
Vps13d	T	C	4: 144,784,108 (GRCm39)	T3889A		Het
Vps35	C	T	8: 85,989,999 (GRCm39)	V670M	probably damaging	Het
Zfp626	T	C	7: 27,517,828 (GRCm39)	S270P	possibly damaging	Het
Zfp955a	C	T	17: 33,461,797 (GRCm39)	V112M	probably benign	Het
Zranb2	T	C	3: 157,246,806 (GRCm39)	S165P	possibly damaging	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
R0050:Abca1	UTSW	4	53,069,910 (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
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

Predicted Primers

PCR Primer
(F):5'- AGCCTGACCATTTCCTTCACAG -3'
(R):5'- CCTGAAACTCACTTCTCGGTG -3'

Sequencing Primer
(F):5'- CAGCTTTTTCAAAGGCCAGG -3'
(R):5'- CCATAGCGGTTGAGTCTT -3'

Posted On

2019-10-17