Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02622:Abca1'

300906

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 #

IGL02622

Quality Score

Status

Chromosome

Chromosomal Location

53030787-53159895 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53034046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 2228 (D2228G)

Ref Sequence

ENSEMBL: ENSMUSP00000030010 (fasta)

Gene Model

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

AlphaFold

P41233

Predicted Effect

probably damaging
Transcript: ENSMUST00000030010
AA Change: D2228G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030010
Gene: ENSMUSG00000015243
AA Change: D2228G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149127

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	C	T	5: 109,887,101 (GRCm39)	V32M	possibly damaging	Het
Actr5	A	G	2: 158,480,728 (GRCm39)	K582R	probably benign	Het
Armc8	T	C	9: 99,409,122 (GRCm39)		probably benign	Het
Atp7b	T	C	8: 22,518,454 (GRCm39)	D128G	possibly damaging	Het
Cemip	C	A	7: 83,613,383 (GRCm39)	G605V	probably damaging	Het
Cep112	A	G	11: 108,409,509 (GRCm39)	H133R	probably benign	Het
Cops3	C	T	11: 59,723,864 (GRCm39)	D98N	probably benign	Het
Crlf3	T	C	11: 79,950,150 (GRCm39)	D160G	probably damaging	Het
Csn1s1	T	C	5: 87,825,501 (GRCm39)		probably null	Het
Ddx60	C	A	8: 62,395,470 (GRCm39)		probably null	Het
Depdc1a	T	A	3: 159,221,147 (GRCm39)	N159K	probably benign	Het
Dsg3	A	T	18: 20,662,004 (GRCm39)		probably benign	Het
Eif4g3	A	C	4: 137,824,677 (GRCm39)		probably benign	Het
Ercc6l2	T	A	13: 64,001,437 (GRCm39)		probably null	Het
Fbxw19	T	A	9: 109,322,602 (GRCm39)	M123L	probably benign	Het
Fus	T	A	7: 127,584,794 (GRCm39)	L100H	probably damaging	Het
Gm29247	A	G	1: 44,146,269 (GRCm39)		probably benign	Het
Gucy2e	T	C	11: 69,115,857 (GRCm39)	T842A	probably damaging	Het
Inpp4a	A	T	1: 37,418,115 (GRCm39)	Q519L	probably benign	Het
Kcnip1	C	A	11: 33,593,290 (GRCm39)		probably benign	Het
Lyst	T	A	13: 13,855,975 (GRCm39)	L2432H	probably damaging	Het
Mastl	A	G	2: 23,022,857 (GRCm39)	V622A	probably benign	Het
Myh15	A	G	16: 48,997,317 (GRCm39)	T1712A	probably benign	Het
Nlrp1a	T	C	11: 71,013,826 (GRCm39)	T475A	possibly damaging	Het
Nr4a3	G	A	4: 48,051,649 (GRCm39)	M134I	probably benign	Het
Or2a56	T	G	6: 42,932,663 (GRCm39)	V77G	probably damaging	Het
Or52m1	T	A	7: 102,290,290 (GRCm39)	L279Q	probably damaging	Het
Or5p60	T	A	7: 107,723,595 (GRCm39)	I292F	probably damaging	Het
Paqr6	T	G	3: 88,273,085 (GRCm39)	I52S	probably damaging	Het
Pcdhb4	T	A	18: 37,442,721 (GRCm39)	L677Q	probably benign	Het
Phax	C	T	18: 56,717,372 (GRCm39)	R250*	probably null	Het
Pkn3	A	G	2: 29,973,158 (GRCm39)	D356G	probably benign	Het
Pnpla2	T	C	7: 141,035,285 (GRCm39)	L29P	probably damaging	Het
Rad18	G	A	6: 112,664,948 (GRCm39)	T62I	probably damaging	Het
Riok3	C	T	18: 12,276,017 (GRCm39)	R238C	probably benign	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Sccpdh	G	T	1: 179,504,025 (GRCm39)	G125W	probably damaging	Het
Skint11	T	A	4: 114,051,925 (GRCm39)	L91H	probably damaging	Het
Slc25a45	A	G	19: 5,928,725 (GRCm39)		probably benign	Het
Slco2a1	C	T	9: 102,954,128 (GRCm39)	Q370*	probably null	Het
Szt2	A	G	4: 118,250,087 (GRCm39)	S474P	probably damaging	Het
Tchh	C	A	3: 93,350,719 (GRCm39)	T53K	probably damaging	Het
Tiam1	T	C	16: 89,595,588 (GRCm39)	T1298A	possibly damaging	Het
Tmem161a	C	T	8: 70,633,887 (GRCm39)	Q183*	probably null	Het
Trim26	C	A	17: 37,161,797 (GRCm39)	A72E	probably damaging	Het
Trmt11	A	T	10: 30,435,169 (GRCm39)	I330K	probably benign	Het
Tspan1	A	G	4: 116,021,052 (GRCm39)		probably benign	Het
Ubr4	C	A	4: 139,194,561 (GRCm39)	C4286*	probably null	Het
Unc13a	T	C	8: 72,105,158 (GRCm39)		probably null	Het
Vmn1r20	T	A	6: 57,409,583 (GRCm39)	F303Y	probably damaging	Het
Washc2	T	C	6: 116,190,979 (GRCm39)		probably benign	Het
Xab2	C	T	8: 3,661,699 (GRCm39)	D585N	probably benign	Het
Ythdc2	C	T	18: 44,993,001 (GRCm39)	L791F	probably damaging	Het
Zfp319	C	A	8: 96,055,589 (GRCm39)	V205F	probably damaging	Het
Zscan25	A	T	5: 145,227,512 (GRCm39)	H392L	probably damaging	Het
Zswim6	A	T	13: 107,884,786 (GRCm39)		noncoding transcript	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
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

2015-04-16