Mutagenetix > Incidental Mutation

Incidental Mutation 'R1662:Abca1'

186827

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

039698-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1662 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53030787-53159895 bp(-) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to A at 53090251 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030010 (fasta)

Gene Model

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

AlphaFold

P41233

Predicted Effect

probably null
Transcript: ENSMUST00000030010

SMART Domains

Protein: ENSMUSP00000030010
Gene: ENSMUSG00000015243

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

probably null
Transcript: ENSMUST00000030010

SMART Domains

Protein: ENSMUSP00000030010
Gene: ENSMUSG00000015243

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

probably null
Transcript: ENSMUST00000030010

SMART Domains

Protein: ENSMUSP00000030010
Gene: ENSMUSG00000015243

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

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.3%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	T	A	4: 126,611,682	M1K	probably null	Het
5730507C01Rik	A	C	12: 18,531,966	R119S	possibly damaging	Het
Aff1	G	A	5: 103,841,057	G830D	probably damaging	Het
AI987944	T	C	7: 41,374,449	T369A	possibly damaging	Het
Aoah	A	G	13: 21,000,113		probably null	Het
Arhgap40	C	G	2: 158,539,270	C349W	probably damaging	Het
Atic	T	A	1: 71,576,127	D438E	probably benign	Het
Barhl2	A	T	5: 106,453,499	M338K	probably benign	Het
Btd	T	C	14: 31,666,790	V156A	probably damaging	Het
Ccdc82	T	C	9: 13,262,772	V319A	probably damaging	Het
Celsr1	G	T	15: 86,031,062	N903K	probably damaging	Het
Cenpf	T	A	1: 189,657,771	N1288I	probably damaging	Het
Ciao1	G	A	2: 127,244,937	T252I	probably benign	Het
Cma2	T	C	14: 55,973,116	C87R	probably damaging	Het
Cops7a	T	A	6: 124,962,438	R83W	probably damaging	Het
Cxcr6	A	T	9: 123,810,548	M205L	possibly damaging	Het
Dcc	A	G	18: 71,420,338	L749P	probably benign	Het
Dync1i2	C	T	2: 71,250,979	T484I	possibly damaging	Het
Epas1	A	T	17: 86,829,027	K742N	probably damaging	Het
Evc2	A	G	5: 37,348,750	T138A	probably benign	Het
F5	T	C	1: 164,207,888	I1877T	probably damaging	Het
Fat1	T	G	8: 44,953,164	V984G	probably benign	Het
Fat4	T	A	3: 38,980,779	V2860D	probably damaging	Het
Foxn4	C	T	5: 114,256,894	R324Q	probably benign	Het
Gapdhs	C	T	7: 30,737,002	R120H	probably damaging	Het
Gcnt3	T	C	9: 70,034,377	D303G	probably benign	Het
Gm16432	A	G	1: 178,046,986	K140E	unknown	Het
Gng11	A	T	6: 4,008,066	Y43F	probably benign	Het
Hectd4	A	C	5: 121,317,245	M651L	probably benign	Het
Ifngr2	T	A	16: 91,560,596	Y200N	probably benign	Het
Iqgap3	T	C	3: 88,098,401	V512A	probably benign	Het
Kdm2a	A	C	19: 4,328,212	D187E	probably damaging	Het
Klhl8	A	G	5: 103,872,045	V370A	probably damaging	Het
Kmt2a	G	A	9: 44,836,670		probably benign	Het
Krt12	C	A	11: 99,420,824	V184F	probably benign	Het
Lrrc8c	A	T	5: 105,606,757	I133F	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Map1a	C	G	2: 121,306,408	S2568R	possibly damaging	Het
Mbnl1	C	A	3: 60,625,172	Q301K	probably damaging	Het
Med12l	A	T	3: 59,093,617	K724N	probably damaging	Het
Mroh2a	A	C	1: 88,241,618	I672L	probably benign	Het
Mybph	C	T	1: 134,193,636	P45S	probably benign	Het
Myo15	T	A	11: 60,501,701	S2157T	probably damaging	Het
Olfr113	G	T	17: 37,575,273	T50K	probably damaging	Het
Olfr193	T	C	16: 59,110,604	E2G	probably benign	Het
Olfr374	T	C	8: 72,109,779	V71A	probably benign	Het
Olfr721-ps1	T	A	14: 14,407,880	Y217*	probably null	Het
Otogl	A	G	10: 107,798,357	I1419T	possibly damaging	Het
Ovol1	A	T	19: 5,551,639	F118L	probably damaging	Het
Pak7	T	C	2: 136,116,760	D136G	probably damaging	Het
Pik3r2	T	C	8: 70,770,606	Y417C	probably damaging	Het
Ppp2r2a	T	C	14: 67,016,603	N372S	probably benign	Het
Prss30	G	T	17: 23,972,832	N238K	possibly damaging	Het
Prss33	C	A	17: 23,834,811		probably null	Het
Ptpn4	T	C	1: 119,765,058	E187G	probably damaging	Het
Ptprg	A	T	14: 12,207,357	N100I	probably damaging	Het
Rbpms2	T	C	9: 65,651,042	V130A	probably benign	Het
Rdh7	A	T	10: 127,888,612	M1K	probably null	Het
Rtp3	A	C	9: 110,986,683	S205A	probably benign	Het
Ryr3	G	T	2: 112,709,273	D3207E	probably damaging	Het
Scn9a	T	A	2: 66,483,459	T1972S	probably benign	Het
Scnn1b	T	C	7: 121,902,328	V122A	probably benign	Het
Slc15a4	A	G	5: 127,608,979	L213S	probably damaging	Het
Slc27a5	T	A	7: 12,991,246	I425F	probably damaging	Het
Spata31d1b	A	G	13: 59,716,628	D530G	probably benign	Het
Tcf25	T	A	8: 123,381,550	S115T	probably benign	Het
Tet2	A	G	3: 133,466,852	L1883P	possibly damaging	Het
Trim21	T	A	7: 102,561,898	R205*	probably null	Het
Ttc23	G	T	7: 67,725,321		probably null	Het
Unc13d	T	C	11: 116,068,673	K658R	probably null	Het
Vmn1r43	A	G	6: 89,869,590	F305L	possibly damaging	Het
Vmn2r2	A	T	3: 64,117,130	C677S	probably benign	Het
Wnt5a	T	C	14: 28,518,343	M150T	probably benign	Het
Ythdc1	G	A	5: 86,828,122		probably null	Het
Zcchc6	T	C	13: 59,799,903	E466G	possibly damaging	Het
Zdbf2	A	T	1: 63,304,249	R596*	probably null	Het

Other mutations in Abca1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Abca1	APN	4	53059255	critical splice donor site	probably null
IGL00778:Abca1	APN	4	53086132	missense	probably benign
IGL01013:Abca1	APN	4	53038185	nonsense	probably null
IGL01510:Abca1	APN	4	53143979	missense	probably damaging	0.97
IGL01608:Abca1	APN	4	53038158	missense	probably damaging	1.00
IGL01845:Abca1	APN	4	53090297	missense	probably damaging	1.00
IGL02048:Abca1	APN	4	53069831	missense	probably damaging	1.00
IGL02249:Abca1	APN	4	53068739	nonsense	probably null
IGL02569:Abca1	APN	4	53034061	missense	probably damaging	1.00
IGL02622:Abca1	APN	4	53034046	missense	probably damaging	0.99
R6720_abca1_529	UTSW	4	53083733	missense	probably damaging	1.00
R0042:Abca1	UTSW	4	53059245	splice site	probably benign
R0042:Abca1	UTSW	4	53059245	splice site	probably benign
R0050:Abca1	UTSW	4	53069910	splice site	probably benign
R0107:Abca1	UTSW	4	53080834	missense	probably benign	0.00
R0127:Abca1	UTSW	4	53067155	missense	probably benign	0.00
R0178:Abca1	UTSW	4	53081953	missense	possibly damaging	0.89
R0207:Abca1	UTSW	4	53086039	missense	probably damaging	0.97
R0267:Abca1	UTSW	4	53046105	missense	probably damaging	1.00
R0269:Abca1	UTSW	4	53044228	missense	probably benign
R0586:Abca1	UTSW	4	53092860	missense	probably benign	0.00
R0587:Abca1	UTSW	4	53107035	missense	probably benign	0.00
R1403:Abca1	UTSW	4	53059253	splice site	probably benign
R1404:Abca1	UTSW	4	53059253	splice site	probably benign
R1405:Abca1	UTSW	4	53059253	splice site	probably benign
R1558:Abca1	UTSW	4	53092887	missense	probably null	0.00
R1655:Abca1	UTSW	4	53050964	missense	probably benign
R1769:Abca1	UTSW	4	53074325	missense	probably damaging	1.00
R1898:Abca1	UTSW	4	53071977	missense	probably benign	0.08
R1945:Abca1	UTSW	4	53061509	frame shift	probably null
R1966:Abca1	UTSW	4	53050409	missense	probably damaging	1.00
R2055:Abca1	UTSW	4	53069881	missense	probably benign
R2185:Abca1	UTSW	4	53089830	missense	probably benign	0.12
R2202:Abca1	UTSW	4	53090291	missense	probably damaging	0.96
R2203:Abca1	UTSW	4	53090291	missense	probably damaging	0.96
R2204:Abca1	UTSW	4	53090291	missense	probably damaging	0.96
R3056:Abca1	UTSW	4	53127626	missense	probably benign
R3849:Abca1	UTSW	4	53061481	splice site	probably benign
R3850:Abca1	UTSW	4	53061481	splice site	probably benign
R3906:Abca1	UTSW	4	53067151	missense	possibly damaging	0.84
R3908:Abca1	UTSW	4	53067151	missense	possibly damaging	0.84
R4050:Abca1	UTSW	4	53044144	missense	probably damaging	1.00
R4204:Abca1	UTSW	4	53090369	missense	probably benign	0.00
R4225:Abca1	UTSW	4	53085106	missense	possibly damaging	0.87
R4577:Abca1	UTSW	4	53062568	missense	possibly damaging	0.94
R4979:Abca1	UTSW	4	53085092	splice site	probably null
R5022:Abca1	UTSW	4	53041570	frame shift	probably null
R5168:Abca1	UTSW	4	53086070	missense	probably benign
R5363:Abca1	UTSW	4	53132963	missense	probably benign	0.00
R5439:Abca1	UTSW	4	53042381	missense	possibly damaging	0.55
R5604:Abca1	UTSW	4	53067168	splice site	probably null
R5614:Abca1	UTSW	4	53046132	missense	probably damaging	1.00
R5810:Abca1	UTSW	4	53079631	missense	probably benign
R6001:Abca1	UTSW	4	53075555	missense	possibly damaging	0.68
R6151:Abca1	UTSW	4	53085261	missense	probably benign
R6185:Abca1	UTSW	4	53078089	missense	probably benign	0.31
R6262:Abca1	UTSW	4	53092917	missense	probably benign	0.01
R6455:Abca1	UTSW	4	53042376	missense	probably damaging	0.98
R6472:Abca1	UTSW	4	53085991	critical splice donor site	probably null
R6564:Abca1	UTSW	4	53034031	missense	possibly damaging	0.85
R6720:Abca1	UTSW	4	53083733	missense	probably damaging	1.00
R6903:Abca1	UTSW	4	53143952	missense	probably benign	0.17
R6960:Abca1	UTSW	4	53072924	missense	probably benign	0.00
R7065:Abca1	UTSW	4	53074233	missense	probably damaging	0.98
R7142:Abca1	UTSW	4	53082050	missense	probably damaging	1.00
R7322:Abca1	UTSW	4	53067151	missense	probably damaging	0.97
R7520:Abca1	UTSW	4	53078114	missense	probably benign
R7547:Abca1	UTSW	4	53109269	missense	probably benign	0.02
R7793:Abca1	UTSW	4	53042367	missense	not run
R7863:Abca1	UTSW	4	53107179	missense	probably benign
R7877:Abca1	UTSW	4	53046135	missense	possibly damaging	0.55
R8010:Abca1	UTSW	4	53127600	missense	probably benign
R8058:Abca1	UTSW	4	53081954	missense	possibly damaging	0.60
R8181:Abca1	UTSW	4	53059303	missense	probably benign	0.21
R8471:Abca1	UTSW	4	53044187	missense	probably damaging	1.00
R8774:Abca1	UTSW	4	53090358	missense	possibly damaging	0.89
R8774-TAIL:Abca1	UTSW	4	53090358	missense	possibly damaging	0.89
R8806:Abca1	UTSW	4	53084520	missense	probably benign	0.17
R8841:Abca1	UTSW	4	53143925	splice site	probably benign
R9081:Abca1	UTSW	4	53109162	critical splice donor site	probably null
R9483:Abca1	UTSW	4	53060351	missense	probably benign	0.11
R9532:Abca1	UTSW	4	53109284	missense	probably benign
R9621:Abca1	UTSW	4	53092918	missense	probably benign	0.00
R9638:Abca1	UTSW	4	53092806	missense	probably damaging	0.96
RF005:Abca1	UTSW	4	53049125	missense	probably damaging	0.97
RF024:Abca1	UTSW	4	53049125	missense	probably damaging	0.97
X0023:Abca1	UTSW	4	53049038	missense	possibly damaging	0.91
Z1177:Abca1	UTSW	4	53079584	missense	probably benign	0.00
Z1177:Abca1	UTSW	4	53080799	missense	probably benign	0.01
Z1177:Abca1	UTSW	4	53086133	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- TACTCAAGGCTGGGGATATGGAGC -3'
(R):5'- TCGAGCACTGAGGAAAGACCTCAC -3'

Sequencing Primer
(F):5'- GGGATATGGAGCCCAAGATTAC -3'
(R):5'- tgataggtgatgtgggaggg -3'

Posted On

2014-05-09