Mutagenetix > Incidental Mutation

Incidental Mutation 'R3906:Abca1'

309175

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

040813-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3906 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53030787-53159895 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53067151 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1352 (V1352A)

Ref Sequence

ENSEMBL: ENSMUSP00000030010 (fasta)

Gene Model

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

AlphaFold

P41233

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030010
AA Change: V1352A

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030010
Gene: ENSMUSG00000015243
AA Change: V1352A

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

0.3639

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (36/37)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb7	G	T	X: 104,284,159 (GRCm38)	Q715K	probably benign	Het
Adamts3	C	A	5: 89,861,355 (GRCm38)	G150C	probably damaging	Het
Ank2	A	G	3: 127,016,898 (GRCm38)	L513P	probably damaging	Het
Cacng1	C	A	11: 107,716,292 (GRCm38)	V34L	probably benign	Het
Cd1d1	A	G	3: 86,998,756 (GRCm38)	W71R	probably damaging	Het
Cdhr3	A	G	12: 33,053,428 (GRCm38)	F397L	probably damaging	Het
Ces2a	A	G	8: 104,739,308 (GRCm38)	I325V	probably benign	Het
Ctsq	C	T	13: 61,038,771 (GRCm38)	V140M	probably damaging	Het
Cyp4f18	A	G	8: 72,001,082 (GRCm38)		probably benign	Het
Ddi2	T	C	4: 141,684,281 (GRCm38)	D440G	probably benign	Het
Dsg3	G	A	18: 20,538,499 (GRCm38)	G754R	probably damaging	Het
Endod1	T	A	9: 14,380,855 (GRCm38)	Y39F	probably benign	Het
F11	A	G	8: 45,248,638 (GRCm38)	S353P	probably damaging	Het
Fn1	C	T	1: 71,607,913 (GRCm38)	G1482R	probably damaging	Het
Fpr2	A	G	17: 17,893,549 (GRCm38)	K269R	probably benign	Het
Frk	T	G	10: 34,584,056 (GRCm38)	L216V	probably benign	Het
Gan	G	A	8: 117,194,134 (GRCm38)	V370M	probably damaging	Het
Grik1	A	G	16: 88,006,449 (GRCm38)	I285T	probably benign	Het
Hspa1a	C	T	17: 34,971,727 (GRCm38)	V67M	probably damaging	Het
Kbtbd8	T	A	6: 95,126,584 (GRCm38)	Y405N	probably damaging	Het
Kcnj4	G	T	15: 79,485,745 (GRCm38)	H11Q	probably benign	Het
Kif26a	T	A	12: 112,176,890 (GRCm38)	S1193T	probably benign	Het
Kmt2e	A	G	5: 23,501,626 (GRCm38)	N1396D	probably benign	Het
Lasp1	G	A	11: 97,799,827 (GRCm38)	V12M	probably damaging	Het
Lrrk1	G	T	7: 66,294,903 (GRCm38)	T653K	possibly damaging	Het
Meiob	A	G	17: 24,827,948 (GRCm38)	Y182C	probably benign	Het
Myh6	T	C	14: 54,956,955 (GRCm38)	D739G	probably benign	Het
Ninl	T	C	2: 150,980,119 (GRCm38)	D21G	probably damaging	Het
Olfr1504	C	T	19: 13,887,706 (GRCm38)	C168Y	probably damaging	Het
Olfr743	C	T	14: 50,533,754 (GRCm38)	T114I	probably benign	Het
Pacsin2	A	C	15: 83,379,055 (GRCm38)	V125G	probably damaging	Het
Pfas	G	A	11: 68,988,286 (GRCm38)		probably benign	Het
Pla2g4f	C	T	2: 120,300,499 (GRCm38)	R825Q	probably benign	Het
Prkd1	A	T	12: 50,388,426 (GRCm38)	V506E	possibly damaging	Het
Psmd2	A	G	16: 20,655,642 (GRCm38)	D316G	probably benign	Het
Ryr2	T	A	13: 11,738,209 (GRCm38)	D1742V	possibly damaging	Het
Szt2	G	A	4: 118,378,269 (GRCm38)		probably benign	Het
Ugt8a	T	C	3: 125,914,982 (GRCm38)	T160A	possibly damaging	Het
Xrcc6	A	G	15: 82,029,571 (GRCm38)	T378A	probably benign	Het

Other mutations in Abca1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Abca1	APN	4	53,059,255 (GRCm38)	critical splice donor site	probably null
IGL00778:Abca1	APN	4	53,086,132 (GRCm38)	missense	probably benign
IGL01013:Abca1	APN	4	53,038,185 (GRCm38)	nonsense	probably null
IGL01510:Abca1	APN	4	53,143,979 (GRCm38)	missense	probably damaging	0.97
IGL01608:Abca1	APN	4	53,038,158 (GRCm38)	missense	probably damaging	1.00
IGL01845:Abca1	APN	4	53,090,297 (GRCm38)	missense	probably damaging	1.00
IGL02048:Abca1	APN	4	53,069,831 (GRCm38)	missense	probably damaging	1.00
IGL02249:Abca1	APN	4	53,068,739 (GRCm38)	nonsense	probably null
IGL02569:Abca1	APN	4	53,034,061 (GRCm38)	missense	probably damaging	1.00
IGL02622:Abca1	APN	4	53,034,046 (GRCm38)	missense	probably damaging	0.99
R6720_abca1_529	UTSW	4	53,083,733 (GRCm38)	missense	probably damaging	1.00
R0042:Abca1	UTSW	4	53,059,245 (GRCm38)	splice site	probably benign
R0042:Abca1	UTSW	4	53,059,245 (GRCm38)	splice site	probably benign
R0050:Abca1	UTSW	4	53,069,910 (GRCm38)	splice site	probably benign
R0107:Abca1	UTSW	4	53,080,834 (GRCm38)	missense	probably benign	0.00
R0127:Abca1	UTSW	4	53,067,155 (GRCm38)	missense	probably benign	0.00
R0178:Abca1	UTSW	4	53,081,953 (GRCm38)	missense	possibly damaging	0.89
R0207:Abca1	UTSW	4	53,086,039 (GRCm38)	missense	probably damaging	0.97
R0267:Abca1	UTSW	4	53,046,105 (GRCm38)	missense	probably damaging	1.00
R0269:Abca1	UTSW	4	53,044,228 (GRCm38)	missense	probably benign
R0586:Abca1	UTSW	4	53,092,860 (GRCm38)	missense	probably benign	0.00
R0587:Abca1	UTSW	4	53,107,035 (GRCm38)	missense	probably benign	0.00
R1403:Abca1	UTSW	4	53,059,253 (GRCm38)	splice site	probably benign
R1404:Abca1	UTSW	4	53,059,253 (GRCm38)	splice site	probably benign
R1405:Abca1	UTSW	4	53,059,253 (GRCm38)	splice site	probably benign
R1558:Abca1	UTSW	4	53,092,887 (GRCm38)	missense	probably null	0.00
R1655:Abca1	UTSW	4	53,050,964 (GRCm38)	missense	probably benign
R1662:Abca1	UTSW	4	53,090,251 (GRCm38)	splice site	probably null
R1769:Abca1	UTSW	4	53,074,325 (GRCm38)	missense	probably damaging	1.00
R1898:Abca1	UTSW	4	53,071,977 (GRCm38)	missense	probably benign	0.08
R1945:Abca1	UTSW	4	53,061,509 (GRCm38)	frame shift	probably null
R1966:Abca1	UTSW	4	53,050,409 (GRCm38)	missense	probably damaging	1.00
R2055:Abca1	UTSW	4	53,069,881 (GRCm38)	missense	probably benign
R2185:Abca1	UTSW	4	53,089,830 (GRCm38)	missense	probably benign	0.12
R2202:Abca1	UTSW	4	53,090,291 (GRCm38)	missense	probably damaging	0.96
R2203:Abca1	UTSW	4	53,090,291 (GRCm38)	missense	probably damaging	0.96
R2204:Abca1	UTSW	4	53,090,291 (GRCm38)	missense	probably damaging	0.96
R3056:Abca1	UTSW	4	53,127,626 (GRCm38)	missense	probably benign
R3849:Abca1	UTSW	4	53,061,481 (GRCm38)	splice site	probably benign
R3850:Abca1	UTSW	4	53,061,481 (GRCm38)	splice site	probably benign
R3908:Abca1	UTSW	4	53,067,151 (GRCm38)	missense	possibly damaging	0.84
R4050:Abca1	UTSW	4	53,044,144 (GRCm38)	missense	probably damaging	1.00
R4204:Abca1	UTSW	4	53,090,369 (GRCm38)	missense	probably benign	0.00
R4225:Abca1	UTSW	4	53,085,106 (GRCm38)	missense	possibly damaging	0.87
R4577:Abca1	UTSW	4	53,062,568 (GRCm38)	missense	possibly damaging	0.94
R4979:Abca1	UTSW	4	53,085,092 (GRCm38)	splice site	probably null
R5022:Abca1	UTSW	4	53,041,570 (GRCm38)	frame shift	probably null
R5168:Abca1	UTSW	4	53,086,070 (GRCm38)	missense	probably benign
R5363:Abca1	UTSW	4	53,132,963 (GRCm38)	missense	probably benign	0.00
R5439:Abca1	UTSW	4	53,042,381 (GRCm38)	missense	possibly damaging	0.55
R5604:Abca1	UTSW	4	53,067,168 (GRCm38)	splice site	probably null
R5614:Abca1	UTSW	4	53,046,132 (GRCm38)	missense	probably damaging	1.00
R5810:Abca1	UTSW	4	53,079,631 (GRCm38)	missense	probably benign
R6001:Abca1	UTSW	4	53,075,555 (GRCm38)	missense	possibly damaging	0.68
R6151:Abca1	UTSW	4	53,085,261 (GRCm38)	missense	probably benign
R6185:Abca1	UTSW	4	53,078,089 (GRCm38)	missense	probably benign	0.31
R6262:Abca1	UTSW	4	53,092,917 (GRCm38)	missense	probably benign	0.01
R6455:Abca1	UTSW	4	53,042,376 (GRCm38)	missense	probably damaging	0.98
R6472:Abca1	UTSW	4	53,085,991 (GRCm38)	critical splice donor site	probably null
R6564:Abca1	UTSW	4	53,034,031 (GRCm38)	missense	possibly damaging	0.85
R6720:Abca1	UTSW	4	53,083,733 (GRCm38)	missense	probably damaging	1.00
R6903:Abca1	UTSW	4	53,143,952 (GRCm38)	missense	probably benign	0.17
R6960:Abca1	UTSW	4	53,072,924 (GRCm38)	missense	probably benign	0.00
R7065:Abca1	UTSW	4	53,074,233 (GRCm38)	missense	probably damaging	0.98
R7142:Abca1	UTSW	4	53,082,050 (GRCm38)	missense	probably damaging	1.00
R7322:Abca1	UTSW	4	53,067,151 (GRCm38)	missense	probably damaging	0.97
R7520:Abca1	UTSW	4	53,078,114 (GRCm38)	missense	probably benign
R7547:Abca1	UTSW	4	53,109,269 (GRCm38)	missense	probably benign	0.02
R7793:Abca1	UTSW	4	53,042,367 (GRCm38)	missense	not run
R7863:Abca1	UTSW	4	53,107,179 (GRCm38)	missense	probably benign
R7877:Abca1	UTSW	4	53,046,135 (GRCm38)	missense	possibly damaging	0.55
R8010:Abca1	UTSW	4	53,127,600 (GRCm38)	missense	probably benign
R8058:Abca1	UTSW	4	53,081,954 (GRCm38)	missense	possibly damaging	0.60
R8181:Abca1	UTSW	4	53,059,303 (GRCm38)	missense	probably benign	0.21
R8471:Abca1	UTSW	4	53,044,187 (GRCm38)	missense	probably damaging	1.00
R8774:Abca1	UTSW	4	53,090,358 (GRCm38)	missense	possibly damaging	0.89
R8774-TAIL:Abca1	UTSW	4	53,090,358 (GRCm38)	missense	possibly damaging	0.89
R8806:Abca1	UTSW	4	53,084,520 (GRCm38)	missense	probably benign	0.17
R8841:Abca1	UTSW	4	53,143,925 (GRCm38)	splice site	probably benign
R9081:Abca1	UTSW	4	53,109,162 (GRCm38)	critical splice donor site	probably null
R9483:Abca1	UTSW	4	53,060,351 (GRCm38)	missense	probably benign	0.11
R9532:Abca1	UTSW	4	53,109,284 (GRCm38)	missense	probably benign
R9621:Abca1	UTSW	4	53,092,918 (GRCm38)	missense	probably benign	0.00
R9638:Abca1	UTSW	4	53,092,806 (GRCm38)	missense	probably damaging	0.96
RF005:Abca1	UTSW	4	53,049,125 (GRCm38)	missense	probably damaging	0.97
RF024:Abca1	UTSW	4	53,049,125 (GRCm38)	missense	probably damaging	0.97
X0023:Abca1	UTSW	4	53,049,038 (GRCm38)	missense	possibly damaging	0.91
Z1177:Abca1	UTSW	4	53,086,133 (GRCm38)	missense	possibly damaging	0.73
Z1177:Abca1	UTSW	4	53,080,799 (GRCm38)	missense	probably benign	0.01
Z1177:Abca1	UTSW	4	53,079,584 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTATACGAAACACTGTTGGTCTG -3'
(R):5'- ATCCGGAAATGCCTTGGGAG -3'

Sequencing Primer
(F):5'- GAAACACTGTTGGTCTGTTTCAACC -3'
(R):5'- GAAAGGGGCTTAATTTTCAGTCTCC -3'

Posted On

2015-04-17