Mutagenetix > Incidental Mutation

Incidental Mutation 'R6262:Abca1'

506743

Institutional Source

Beutler Lab

Gene Symbol

Abca1

Ensembl Gene

ENSMUSG00000015243

Gene Name

ATP-binding cassette, sub-family A member 1

Synonyms

ABC1

MMRRC Submission

045016-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6262 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53030787-53159895 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 53092917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 289 (T289I)

Ref Sequence

ENSEMBL: ENSMUSP00000030010 (fasta)

Gene Model

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

AlphaFold

P41233

Predicted Effect

probably benign
Transcript: ENSMUST00000030010
AA Change: T289I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000030010
Gene: ENSMUSG00000015243
AA Change: T289I

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

Meta Mutation Damage Score

0.0861

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

97% (58/60)

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
Abca2	T	C	2: 25,334,922 (GRCm39)	Y1965H	possibly damaging	Het
Adam26a	T	C	8: 44,022,125 (GRCm39)	N455S	possibly damaging	Het
Art5	C	T	7: 101,747,338 (GRCm39)	G147D	probably benign	Het
Atp5f1a	G	A	18: 77,868,912 (GRCm39)	V429M	probably damaging	Het
Calr4	A	T	4: 109,108,564 (GRCm39)	N213I	probably damaging	Het
Cchcr1	T	C	17: 35,841,413 (GRCm39)	S810P	probably benign	Het
Cdh4	A	T	2: 179,439,419 (GRCm39)	R189W	probably damaging	Het
Cdk5rap1	T	C	2: 154,212,606 (GRCm39)	D84G	probably benign	Het
Clasp2	T	A	9: 113,705,420 (GRCm39)		probably null	Het
Cntnap2	T	A	6: 45,037,046 (GRCm39)		probably null	Het
Cntnap4	T	C	8: 113,529,843 (GRCm39)	Y684H	probably damaging	Het
Cyp2a4	T	A	7: 26,011,655 (GRCm39)	V292E	probably damaging	Het
Dap	A	G	15: 31,235,960 (GRCm39)	T10A	probably benign	Het
Dnah11	G	A	12: 117,894,913 (GRCm39)	R3645C	probably damaging	Het
Dnah9	A	T	11: 65,772,631 (GRCm39)		probably null	Het
Efcab3	T	A	11: 104,784,579 (GRCm39)	M2787K	probably benign	Het
Efr3a	T	C	15: 65,729,323 (GRCm39)	S675P	possibly damaging	Het
Gria1	A	G	11: 57,133,680 (GRCm39)	K451E	probably damaging	Het
Grin3b	A	T	10: 79,810,203 (GRCm39)	M570L	probably benign	Het
Hs2st1	A	G	3: 144,140,374 (GRCm39)	F316L	probably damaging	Het
Hs6st3	A	G	14: 119,376,403 (GRCm39)	T193A	possibly damaging	Het
Hspg2	A	T	4: 137,246,997 (GRCm39)	D1108V	probably damaging	Het
Igf1r	T	A	7: 67,653,720 (GRCm39)	L86Q	probably damaging	Het
Inpp5j	A	G	11: 3,452,615 (GRCm39)	S212P	probably benign	Het
Junb	A	G	8: 85,704,359 (GRCm39)	S234P	possibly damaging	Het
Lhx3	GTGTTGT	GTGT	2: 26,092,435 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,366,983 (GRCm39)	S1028P	possibly damaging	Het
Met	C	A	6: 17,553,403 (GRCm39)	A1063E	probably benign	Het
Mink1	T	C	11: 70,494,151 (GRCm39)		probably null	Het
Mtor	A	G	4: 148,610,552 (GRCm39)	E1621G	possibly damaging	Het
Mug2	T	C	6: 122,052,214 (GRCm39)	Y991H	probably damaging	Het
Neb	T	C	2: 52,198,699 (GRCm39)	D414G	probably damaging	Het
Nkx6-3	T	C	8: 23,643,863 (GRCm39)	V88A	probably benign	Het
Nr3c2	A	G	8: 77,635,262 (GRCm39)	Q121R	possibly damaging	Het
Nup155	T	C	15: 8,186,225 (GRCm39)	V1329A	probably benign	Het
Or2d36	T	C	7: 106,746,918 (GRCm39)	Y132H	probably damaging	Het
Or5d35	T	C	2: 87,855,738 (GRCm39)	V224A	probably benign	Het
Pcdhb17	T	A	18: 37,619,751 (GRCm39)	F514I	probably damaging	Het
Pfkl	A	G	10: 77,824,507 (GRCm39)		probably null	Het
Prl8a1	A	T	13: 27,758,126 (GRCm39)	H194Q	possibly damaging	Het
Sh3tc1	C	G	5: 35,857,117 (GRCm39)	E1241Q	probably damaging	Het
Slc6a6	A	T	6: 91,732,013 (GRCm39)	H614L	possibly damaging	Het
Sort1	A	G	3: 108,217,527 (GRCm39)	Y143C	probably damaging	Het
Stat4	T	A	1: 52,141,360 (GRCm39)	W569R	probably null	Het
Taco1	A	T	11: 105,962,693 (GRCm39)	K127*	probably null	Het
Tas2r110	T	C	6: 132,845,638 (GRCm39)	I223T	probably damaging	Het
Tex21	A	G	12: 76,259,306 (GRCm39)	I329T	probably damaging	Het
Tmprss11b	T	C	5: 86,810,119 (GRCm39)	H287R	probably benign	Het
Trim30a	A	G	7: 104,060,741 (GRCm39)	L345P	probably benign	Het
Vmn1r62	G	A	7: 5,678,556 (GRCm39)	C79Y	probably damaging	Het
Vmn2r116	A	G	17: 23,606,351 (GRCm39)	K421R	probably benign	Het
Vwde	C	T	6: 13,205,020 (GRCm39)	S287N	probably damaging	Het
Xrcc4	A	T	13: 89,926,906 (GRCm39)	M300K	probably benign	Het
Zan	A	T	5: 137,427,747 (GRCm39)		probably null	Het
Zbtb7c	A	G	18: 76,270,413 (GRCm39)	D167G	probably benign	Het
Zfc3h1	A	G	10: 115,249,881 (GRCm39)	Y1165C	probably damaging	Het
Zfp326	T	A	5: 106,036,353 (GRCm39)	L88Q	probably damaging	Het
Zfp667	A	G	7: 6,307,973 (GRCm39)	T214A	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
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
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

Predicted Primers

PCR Primer
(F):5'- CGGAATGAGGACATGGCTTTG -3'
(R):5'- CACAGTATGTTCTGCAACACTG -3'

Sequencing Primer
(F):5'- GAATTGTCATAGAAGGTGTCCACGTC -3'
(R):5'- GCAACACTGCTTTTAGGTTAAGAG -3'

Posted On

2018-03-15