Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01608:Abca1'

91849

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 #

IGL01608

Quality Score

Status

Chromosome

Chromosomal Location

53030787-53159895 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53038158 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 2068 (L2068Q)

Ref Sequence

ENSEMBL: ENSMUSP00000030010 (fasta)

Gene Model

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

AlphaFold

P41233

Predicted Effect

probably damaging
Transcript: ENSMUST00000030010
AA Change: L2068Q

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

SMART Domains

Protein: ENSMUSP00000030010
Gene: ENSMUSG00000015243
AA Change: L2068Q

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,298,601 (GRCm39)	D2340E	probably damaging	Het
Adcy5	A	G	16: 35,092,535 (GRCm39)	Y632C	probably damaging	Het
Adgrb3	A	G	1: 25,592,855 (GRCm39)	S311P	probably damaging	Het
Adh4	C	T	3: 138,134,788 (GRCm39)		probably benign	Het
Atf2	G	T	2: 73,649,422 (GRCm39)	H396Q	probably damaging	Het
Atp8a1	G	A	5: 67,970,479 (GRCm39)	R74*	probably null	Het
Brpf3	T	C	17: 29,040,491 (GRCm39)	S971P	probably benign	Het
Btn1a1	T	C	13: 23,645,778 (GRCm39)	E197G	probably benign	Het
Ccdc136	C	T	6: 29,406,113 (GRCm39)	A87V	possibly damaging	Het
Celf4	A	G	18: 25,630,560 (GRCm39)	L376P	probably damaging	Het
Chrm3	G	A	13: 9,928,634 (GRCm39)	A134V	possibly damaging	Het
Col19a1	G	A	1: 24,321,626 (GRCm39)	R961C	probably damaging	Het
Cr2	A	G	1: 194,837,528 (GRCm39)	V1190A	possibly damaging	Het
Dop1a	T	A	9: 86,389,614 (GRCm39)	S515T	probably benign	Het
Eprs1	T	A	1: 185,117,311 (GRCm39)		probably benign	Het
Fbn2	G	T	18: 58,186,776 (GRCm39)	Y1708*	probably null	Het
Glt1d1	A	G	5: 127,741,746 (GRCm39)	N148S	possibly damaging	Het
Gm20425	T	A	9: 103,068,293 (GRCm39)	I44F	probably damaging	Het
Gpr22	T	A	12: 31,758,779 (GRCm39)	K411*	probably null	Het
Ipo11	A	G	13: 106,971,002 (GRCm39)		probably benign	Het
Klri1	T	A	6: 129,675,130 (GRCm39)	N210I	possibly damaging	Het
Kmt2c	C	T	5: 25,559,809 (GRCm39)	V950M	probably damaging	Het
Knop1	T	C	7: 118,445,019 (GRCm39)	K315R	probably benign	Het
Krt90	A	G	15: 101,471,064 (GRCm39)	I66T	probably benign	Het
Lrrc32	T	A	7: 98,148,564 (GRCm39)	V448D	probably benign	Het
Met	T	C	6: 17,558,729 (GRCm39)	V1119A	probably damaging	Het
Minar1	T	C	9: 89,478,551 (GRCm39)	T832A	probably benign	Het
Mipep	T	A	14: 61,039,679 (GRCm39)	I236N	possibly damaging	Het
Mrpl45	A	G	11: 97,207,747 (GRCm39)	T81A	probably benign	Het
Mtbp	G	T	15: 55,421,085 (GRCm39)	E24*	probably null	Het
Muc5b	C	T	7: 141,400,174 (GRCm39)	T476I	unknown	Het
Mup6	C	T	4: 60,006,021 (GRCm39)	T163I	probably benign	Het
Myo1g	T	A	11: 6,466,780 (GRCm39)	I278F	possibly damaging	Het
Myo9a	A	T	9: 59,778,119 (GRCm39)	K1292*	probably null	Het
Nbeal1	T	A	1: 60,281,694 (GRCm39)		probably benign	Het
Nck1	C	A	9: 100,379,440 (GRCm39)	R270S	probably benign	Het
Neb	T	C	2: 52,060,548 (GRCm39)	E6035G	probably damaging	Het
Nlrp4f	A	C	13: 65,343,357 (GRCm39)	L96*	probably null	Het
Or11g1	A	T	14: 50,651,910 (GRCm39)	H303L	probably benign	Het
Or4a77	A	T	2: 89,486,835 (GRCm39)		probably benign	Het
Or51l14	A	T	7: 103,101,011 (GRCm39)	I156F	probably benign	Het
Or5t18	A	C	2: 86,636,769 (GRCm39)	Y191*	probably null	Het
Padi2	A	G	4: 140,659,541 (GRCm39)	E282G	probably damaging	Het
Pcdhb4	A	G	18: 37,441,803 (GRCm39)	D371G	probably damaging	Het
Pcdhb8	A	G	18: 37,489,978 (GRCm39)	D552G	probably damaging	Het
Peli3	A	G	19: 4,982,855 (GRCm39)	I270T	probably damaging	Het
Phf20	A	G	2: 156,118,516 (GRCm39)	M407V	probably benign	Het
Ppm1h	C	T	10: 122,777,185 (GRCm39)	R103*	probably null	Het
Rangap1	C	T	15: 81,593,705 (GRCm39)	V457M	probably benign	Het
Scube2	A	G	7: 109,442,461 (GRCm39)	V257A	probably benign	Het
Shc1	C	A	3: 89,332,156 (GRCm39)	Q204K	probably damaging	Het
Slc6a4	T	A	11: 76,917,961 (GRCm39)	Y568N	probably damaging	Het
Srgap3	A	G	6: 112,923,439 (GRCm39)	F7L	probably benign	Het
St6galnac4	T	A	2: 32,484,098 (GRCm39)	C99S	probably damaging	Het
Strc	T	C	2: 121,206,075 (GRCm39)	D779G	probably benign	Het
Supt6	A	T	11: 78,116,309 (GRCm39)	Y685N	probably damaging	Het
Traf3ip3	T	C	1: 192,869,418 (GRCm39)	T256A	probably benign	Het
Vmn1r74	A	T	7: 11,581,560 (GRCm39)	I287F	probably damaging	Het
Zmym2	C	A	14: 57,185,472 (GRCm39)	Q1035K	possibly damaging	Het
Zswim3	G	A	2: 164,663,440 (GRCm39)	R640H	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
IGL01510:Abca1	APN	4	53,143,979 (GRCm39)	missense	probably damaging	0.97
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

2013-12-09