Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01510:Abca1'

89188

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abca1

Ensembl Gene

ENSMUSG00000015243

Gene Name

ATP-binding cassette, sub-family A member 1

Synonyms

ABC1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01510

Quality Score

Status

Chromosome

Chromosomal Location

53030787-53159895 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53143979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 6 (Q6R)

Ref Sequence

ENSEMBL: ENSMUSP00000030010 (fasta)

Gene Model

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

AlphaFold

P41233

Predicted Effect

probably damaging
Transcript: ENSMUST00000030010
AA Change: Q6R

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030010
Gene: ENSMUSG00000015243
AA Change: Q6R

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

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	T	8: 25,294,481 (GRCm39)	C373S	probably damaging	Het
Adgre4	T	C	17: 56,125,760 (GRCm39)		probably null	Het
Akap10	A	T	11: 61,768,846 (GRCm39)	M614K	possibly damaging	Het
Amigo2	T	C	15: 97,142,962 (GRCm39)	T487A	probably benign	Het
Asap1	T	C	15: 64,030,777 (GRCm39)	D300G	probably damaging	Het
Atp4a	C	A	7: 30,420,216 (GRCm39)	L788M	probably benign	Het
Bcl3	T	A	7: 19,543,539 (GRCm39)	H309L	probably damaging	Het
Cblc	T	C	7: 19,519,200 (GRCm39)	N376S	probably benign	Het
Cd200r2	A	T	16: 44,729,674 (GRCm39)	I110L	probably benign	Het
Ceacam3	T	C	7: 16,893,767 (GRCm39)	M426T	probably benign	Het
Cep295	G	A	9: 15,265,922 (GRCm39)	R29*	probably null	Het
Ces1a	G	T	8: 93,771,726 (GRCm39)	P24T	probably damaging	Het
Ctps1	G	T	4: 120,416,041 (GRCm39)	T194K	probably damaging	Het
Cul3	A	G	1: 80,260,396 (GRCm39)	S318P	probably damaging	Het
Fasl	A	T	1: 161,609,522 (GRCm39)	S155T	possibly damaging	Het
Gldc	C	T	19: 30,091,121 (GRCm39)		probably null	Het
Gpr21	T	A	2: 37,408,433 (GRCm39)	C326*	probably null	Het
Gtf2a1	A	G	12: 91,534,607 (GRCm39)	S216P	probably benign	Het
Hoxb5	A	T	11: 96,194,818 (GRCm39)	S127C	possibly damaging	Het
Htt	A	T	5: 35,064,856 (GRCm39)	Q3023L	probably damaging	Het
Kalrn	T	A	16: 34,055,700 (GRCm39)	H855L	possibly damaging	Het
Lars1	T	C	18: 42,375,174 (GRCm39)	I289V	probably benign	Het
Lrig3	C	A	10: 125,844,567 (GRCm39)	T677K	probably damaging	Het
Mapk7	A	T	11: 61,381,986 (GRCm39)	W309R	probably damaging	Het
Mmp12	A	G	9: 7,358,307 (GRCm39)	T468A	possibly damaging	Het
Muc5b	A	T	7: 141,412,798 (GRCm39)	N1915Y	unknown	Het
Naprt	A	G	15: 75,762,837 (GRCm39)		probably benign	Het
Nfatc1	T	C	18: 80,741,403 (GRCm39)	Y199C	probably damaging	Het
Or7e166	A	T	9: 19,624,575 (GRCm39)	I151F	probably benign	Het
Or8g51	T	C	9: 38,609,201 (GRCm39)	I158V	probably benign	Het
Phip	T	A	9: 82,795,924 (GRCm39)	I566F	probably benign	Het
Pnpla3	T	A	15: 84,055,273 (GRCm39)		probably benign	Het
Ptpn13	C	T	5: 103,710,166 (GRCm39)	T1567I	probably damaging	Het
Ptpn20	A	G	14: 33,360,343 (GRCm39)		probably null	Het
Ptprq	G	T	10: 107,547,909 (GRCm39)	T163K	probably damaging	Het
Slc8a1	A	G	17: 81,955,794 (GRCm39)	C415R	probably damaging	Het
Slco4c1	A	G	1: 96,795,678 (GRCm39)	S127P	probably damaging	Het
Tcerg1l	A	T	7: 137,996,034 (GRCm39)		probably benign	Het
Thbd	C	T	2: 148,248,894 (GRCm39)	V325M	probably damaging	Het
Trim37	G	A	11: 87,068,686 (GRCm39)	R344H	probably damaging	Het
Ttn	T	C	2: 76,703,109 (GRCm39)		probably benign	Het
Uvrag	G	A	7: 98,653,796 (GRCm39)	Q65*	probably null	Het
Wrap53	G	A	11: 69,453,566 (GRCm39)	S342L	possibly damaging	Het
Zbtb11	T	G	16: 55,810,706 (GRCm39)	V288G	probably 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
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
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

2013-12-03