Mutagenetix > Incidental Mutation

Incidental Mutation 'R5439:Abca1'

428507

Institutional Source

Beutler Lab

Gene Symbol

Abca1

Ensembl Gene

ENSMUSG00000015243

Gene Name

ATP-binding cassette, sub-family A member 1

Synonyms

ABC1

MMRRC Submission

043004-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5439 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53030787-53159895 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 53042381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 1897 (R1897L)

Ref Sequence

ENSEMBL: ENSMUSP00000030010 (fasta)

Gene Model

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

AlphaFold

P41233

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030010
AA Change: R1897L

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000030010
Gene: ENSMUSG00000015243
AA Change: R1897L

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

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	A	T	4: 144,504,683 (GRCm39)	I156N	probably damaging	Het
Ablim2	A	G	5: 36,015,170 (GRCm39)	K461E	probably damaging	Het
Acss3	A	T	10: 106,773,008 (GRCm39)	Y659*	probably null	Het
Actr8	T	G	14: 29,708,952 (GRCm39)	L253R	probably damaging	Het
Arid4b	A	G	13: 14,362,281 (GRCm39)	K915R	probably damaging	Het
C3	T	C	17: 57,511,502 (GRCm39)	E1560G	probably benign	Het
Cacna1c	A	T	6: 118,631,333 (GRCm39)	I1013N	probably damaging	Het
Cep83	G	A	10: 94,625,600 (GRCm39)	R670H	probably benign	Het
Col19a1	T	A	1: 24,332,193 (GRCm39)	D870V	probably damaging	Het
Ddr2	A	G	1: 169,832,298 (GRCm39)	V164A	possibly damaging	Het
Dnaaf10	A	G	11: 17,162,031 (GRCm39)	D23G	possibly damaging	Het
Donson	A	T	16: 91,476,814 (GRCm39)	V549E	probably damaging	Het
Egflam	C	T	15: 7,254,144 (GRCm39)	G824R	probably damaging	Het
Extl3	A	G	14: 65,292,075 (GRCm39)	F916S	probably damaging	Het
Fam110c	A	G	12: 31,124,406 (GRCm39)	M123V	unknown	Het
G3bp1	A	T	11: 55,388,813 (GRCm39)	I342F	probably damaging	Het
Golgb1	A	G	16: 36,720,870 (GRCm39)	N409D	probably benign	Het
Grin2b	C	T	6: 135,713,304 (GRCm39)	G859D	probably damaging	Het
Hspb1	A	T	5: 135,918,186 (GRCm39)	T178S	probably benign	Het
Iigp1	A	G	18: 60,523,329 (GRCm39)	Y149C	probably damaging	Het
Il22	G	T	10: 118,045,366 (GRCm39)	G159*	probably null	Het
Jcad	T	C	18: 4,675,790 (GRCm39)	F1184S	probably damaging	Het
Kcnj2	G	T	11: 110,963,057 (GRCm39)	V150L	probably damaging	Het
Kifc1	C	T	17: 34,105,639 (GRCm39)	R56Q	probably damaging	Het
Lce1h	A	G	3: 92,671,027 (GRCm39)	S42P	unknown	Het
Lrp4	C	A	2: 91,327,418 (GRCm39)	D1471E	probably benign	Het
Lrrc3	C	A	10: 77,737,299 (GRCm39)	V46L	probably benign	Het
Mcf2l	G	A	8: 12,976,646 (GRCm39)	A2T	possibly damaging	Het
Med12l	G	A	3: 59,170,634 (GRCm39)	C1673Y	probably null	Het
Nckap1	T	C	2: 80,343,034 (GRCm39)	E955G	possibly damaging	Het
Ndufs3	T	A	2: 90,732,690 (GRCm39)		probably null	Het
Nkx6-1	A	G	5: 101,809,698 (GRCm39)		probably null	Het
Obscn	C	A	11: 58,890,954 (GRCm39)	E1713*	probably null	Het
Or10ak12	G	A	4: 118,666,560 (GRCm39)	T167I	possibly damaging	Het
Or10g1b	A	G	14: 52,627,582 (GRCm39)	F216S	probably damaging	Het
Or10n1	A	G	9: 39,524,916 (GRCm39)	T18A	probably benign	Het
Or2n1	T	A	17: 38,486,917 (GRCm39)		probably null	Het
Or6n1	A	G	1: 173,917,541 (GRCm39)	R312G	probably benign	Het
Or7e165	A	C	9: 19,695,161 (GRCm39)	H244P	probably damaging	Het
Or8c15	A	G	9: 38,121,050 (GRCm39)	T234A	probably benign	Het
Osbpl5	A	G	7: 143,295,433 (GRCm39)	F10L	possibly damaging	Het
Plvap	A	C	8: 71,964,095 (GRCm39)	I89S	probably damaging	Het
Ppp2r2a	A	G	14: 67,259,772 (GRCm39)	V308A	possibly damaging	Het
Ppp2r5e	T	C	12: 75,540,250 (GRCm39)	S132G	probably benign	Het
Pum3	G	T	19: 27,389,659 (GRCm39)	Q398K	probably benign	Het
Ralgapa2	T	C	2: 146,184,430 (GRCm39)	T1526A	probably benign	Het
Sh3tc2	T	A	18: 62,122,704 (GRCm39)	Y488*	probably null	Het
Spmip7	A	T	11: 11,440,244 (GRCm39)	R8S	possibly damaging	Het
Sqle	A	G	15: 59,202,753 (GRCm39)	Y537C	probably benign	Het
Sult2a8	T	G	7: 14,159,439 (GRCm39)	K60T	probably damaging	Het
Tex15	T	C	8: 34,064,199 (GRCm39)	S1210P	possibly damaging	Het
Thumpd3	A	G	6: 113,043,825 (GRCm39)		silent	Het
Timeless	A	G	10: 128,077,604 (GRCm39)	D228G	probably damaging	Het
Trim31	A	T	17: 37,216,797 (GRCm39)		probably null	Het
Ttc39c	A	T	18: 12,828,428 (GRCm39)	D196V	possibly damaging	Het
Wbp4	C	A	14: 79,709,837 (GRCm39)	V133L	possibly damaging	Het
Zfp354c	G	T	11: 50,706,597 (GRCm39)	D159E	probably benign	Het
Zfp940	C	A	7: 29,544,858 (GRCm39)	D350Y	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AGGCACATTTGGGGAAGCAC -3'
(R):5'- AACTCGCCCAGTTAAAGGG -3'

Sequencing Primer
(F):5'- GGGAAGCACCGGGTTTTG -3'
(R):5'- GATTTTCCCAGCCGTGAGC -3'

Posted On

2016-09-01