Mutagenetix > Incidental Mutation

Incidental Mutation 'R5614:Abca1'

438130

Institutional Source

Beutler Lab

Gene Symbol

Abca1

Ensembl Gene

ENSMUSG00000015243

Gene Name

ATP-binding cassette, sub-family A member 1

Synonyms

ABC1

MMRRC Submission

043275-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5614 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53030787-53159895 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53046132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1712 (V1712A)

Ref Sequence

ENSEMBL: ENSMUSP00000030010 (fasta)

Gene Model

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

AlphaFold

P41233

Predicted Effect

probably damaging
Transcript: ENSMUST00000030010
AA Change: V1712A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030010
Gene: ENSMUSG00000015243
AA Change: V1712A

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

0.2503

Coding Region Coverage

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

Validation Efficiency

100% (62/62)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankmy2	T	C	12: 36,243,783 (GRCm39)	S333P	probably damaging	Het
Arfrp1	A	G	2: 181,001,236 (GRCm39)		probably benign	Het
Atp13a2	A	G	4: 140,719,493 (GRCm39)	T21A	probably benign	Het
Bud23	C	A	5: 135,087,966 (GRCm39)	A152S	probably benign	Het
Cant1	T	C	11: 118,299,569 (GRCm39)	D260G	probably benign	Het
Ces1b	T	C	8: 93,794,836 (GRCm39)	I254M	probably benign	Het
Ces1d	T	C	8: 93,902,832 (GRCm39)	T375A	probably benign	Het
Cfap54	A	G	10: 92,880,911 (GRCm39)	L384P	probably damaging	Het
Chrne	C	T	11: 70,505,879 (GRCm39)	V469I	possibly damaging	Het
Clspn	A	G	4: 126,474,755 (GRCm39)	E968G	probably damaging	Het
Col5a3	A	G	9: 20,694,772 (GRCm39)		probably benign	Het
Dtx4	T	C	19: 12,459,547 (GRCm39)	Y419C	probably damaging	Het
Fam171b	T	A	2: 83,643,217 (GRCm39)	I42N	probably damaging	Het
Fam43a	T	C	16: 30,420,490 (GRCm39)	I358T	possibly damaging	Het
Fasn	T	C	11: 120,704,154 (GRCm39)	S1422G	probably benign	Het
Fig4	A	T	10: 41,148,981 (GRCm39)	V157E	probably damaging	Het
Fus	T	C	7: 127,573,543 (GRCm39)		probably benign	Het
Hmcn2	G	T	2: 31,318,315 (GRCm39)	V3887F	probably damaging	Het
Hmgcll1	A	G	9: 75,988,675 (GRCm39)	Y182C	probably damaging	Het
Hook2	T	A	8: 85,729,137 (GRCm39)	I585N	probably damaging	Het
Iars2	T	C	1: 185,021,705 (GRCm39)	T866A	probably benign	Het
Iqca1l	G	A	5: 24,755,140 (GRCm39)	A330V	probably benign	Het
Lrit1	T	A	14: 36,783,911 (GRCm39)	M413K	probably benign	Het
Myl9	G	A	2: 156,623,083 (GRCm39)		probably benign	Het
Nelfa	A	T	5: 34,077,844 (GRCm39)	L179Q	probably damaging	Het
Nod2	A	T	8: 89,390,824 (GRCm39)	D355V	probably damaging	Het
Npbwr1	A	T	1: 5,987,030 (GRCm39)	S161R	probably damaging	Het
Nxpe2	A	T	9: 48,234,401 (GRCm39)	F289I	probably benign	Het
Odf2	A	G	2: 29,810,879 (GRCm39)	I538M	probably damaging	Het
Osbpl6	T	A	2: 76,398,453 (GRCm39)	V379E	probably damaging	Het
Pkhd1	A	G	1: 20,143,750 (GRCm39)	C3859R	possibly damaging	Het
Rgs1	G	T	1: 144,121,995 (GRCm39)	T99N	probably benign	Het
Rnf6	T	C	5: 146,154,910 (GRCm39)		probably null	Het
Rtp1	C	A	16: 23,249,940 (GRCm39)	Q102K	possibly damaging	Het
Sec24c	T	A	14: 20,732,806 (GRCm39)	V123E	possibly damaging	Het
Serpini2	T	C	3: 75,165,014 (GRCm39)		probably benign	Het
Stxbp5	A	T	10: 9,636,638 (GRCm39)		probably benign	Het
Tecta	A	G	9: 42,250,351 (GRCm39)	S1809P	probably damaging	Het
Tgfb2	T	A	1: 186,357,710 (GRCm39)	I394F	probably benign	Het
Thg1l	T	C	11: 45,841,054 (GRCm39)	Y175C	possibly damaging	Het
Tmem67	C	A	4: 12,061,755 (GRCm39)	K572N	possibly damaging	Het
Tollip	T	C	7: 141,445,825 (GRCm39)	T19A	probably damaging	Het
Ttn	A	G	2: 76,542,451 (GRCm39)	Y25185H	probably damaging	Het
Vgll2	A	T	10: 51,901,318 (GRCm39)	R83*	probably null	Het
Wfdc8	G	T	2: 164,445,123 (GRCm39)	A164E	probably damaging	Het
Ylpm1	T	C	12: 85,111,718 (GRCm39)		probably benign	Het
Zfp326	T	A	5: 106,036,361 (GRCm39)	S91T	probably damaging	Het
Zfp638	T	C	6: 83,906,623 (GRCm39)	F263L	probably damaging	Het
Zfp800	G	A	6: 28,243,135 (GRCm39)	T610I	probably damaging	Het
Zmym4	A	G	4: 126,804,729 (GRCm39)	F475L	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
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

Predicted Primers

PCR Primer
(F):5'- CTGGTGAGACACAAACGTAAGC -3'
(R):5'- GCCAAGGGTAAAATGCTTGTC -3'

Sequencing Primer
(F):5'- ACGTAAGCATCCACTGGCG -3'
(R):5'- CCAAGGGTAAAATGCTTGTCAAACTG -3'

Posted On

2016-10-26