Mutagenetix > Incidental Mutation

Incidental Mutation 'R6903:Abca1'

538630

Institutional Source

Beutler Lab

Gene Symbol

Abca1

Ensembl Gene

ENSMUSG00000015243

Gene Name

ATP-binding cassette, sub-family A member 1

Synonyms

ABC1

MMRRC Submission

044996-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6903 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53030787-53159895 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53143952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 15 (L15Q)

Ref Sequence

ENSEMBL: ENSMUSP00000030010 (fasta)

Gene Model

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

AlphaFold

P41233

Predicted Effect

probably benign
Transcript: ENSMUST00000030010
AA Change: L15Q

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000030010
Gene: ENSMUSG00000015243
AA Change: L15Q

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: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.3%

Validation Efficiency

100% (46/46)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf2	T	C	11: 94,450,417 (GRCm39)	M497V	probably benign	Het
Adnp2	T	C	18: 80,173,305 (GRCm39)	N368S	probably benign	Het
BC034090	T	C	1: 155,097,131 (GRCm39)	T656A	probably benign	Het
Bsph1	A	G	7: 13,192,183 (GRCm39)	Y26C	probably damaging	Het
Cct7	T	C	6: 85,443,675 (GRCm39)	F306L	probably benign	Het
Cd109	A	G	9: 78,543,885 (GRCm39)	Q143R	probably damaging	Het
Cfap46	A	T	7: 139,234,477 (GRCm39)		probably null	Het
Col3a1	A	G	1: 45,371,148 (GRCm39)	N436D	probably damaging	Het
Col6a3	T	C	1: 90,721,929 (GRCm39)	E1498G	probably damaging	Het
Cyp2u1	T	C	3: 131,096,424 (GRCm39)	D118G	probably benign	Het
Dek	A	G	13: 47,251,663 (GRCm39)	S51P	possibly damaging	Het
Dock6	C	T	9: 21,720,860 (GRCm39)	G1746D	probably damaging	Het
Dscam	T	A	16: 96,621,988 (GRCm39)	N488Y	probably damaging	Het
Ebpl	G	T	14: 61,597,693 (GRCm39)	Y49*	probably null	Het
Eefsec	C	T	6: 88,423,265 (GRCm39)	G66D	probably benign	Het
Epha6	T	A	16: 60,346,825 (GRCm39)	Y146F	probably benign	Het
Fcgbpl1	C	T	7: 27,836,638 (GRCm39)	R186C	probably damaging	Het
Frmd4a	A	G	2: 4,591,267 (GRCm39)	R96G	probably damaging	Het
Gm5814	A	G	17: 47,721,352 (GRCm39)		probably benign	Het
Hspa13	C	G	16: 75,554,872 (GRCm39)	V405L	probably damaging	Het
Iqgap2	A	G	13: 95,797,565 (GRCm39)	V1079A	probably damaging	Het
Kcnj9	C	A	1: 172,153,623 (GRCm39)	R167L	probably damaging	Het
Kdm1b	T	A	13: 47,227,880 (GRCm39)	D620E	probably benign	Het
Kif23	T	C	9: 61,834,436 (GRCm39)	R442G	possibly damaging	Het
Nectin1	C	A	9: 43,703,179 (GRCm39)	P146T	possibly damaging	Het
Noc4l	A	G	5: 110,797,461 (GRCm39)	I391T	probably damaging	Het
Npr1	C	A	3: 90,362,452 (GRCm39)	R956L	possibly damaging	Het
Or11g7	T	A	14: 50,691,412 (GRCm39)	M301K	possibly damaging	Het
Or11j4	T	A	14: 50,631,089 (GRCm39)	M292K	possibly damaging	Het
Pcdhgb2	T	C	18: 37,825,223 (GRCm39)	V738A	possibly damaging	Het
Ptpn20	A	G	14: 33,336,461 (GRCm39)	E100G	probably damaging	Het
Rgs10	A	G	7: 127,990,797 (GRCm39)	F97S	probably damaging	Het
Shisa6	T	C	11: 66,265,982 (GRCm39)		probably null	Het
Shld1	A	T	2: 132,592,564 (GRCm39)	K204*	probably null	Het
Sirpb1a	T	C	3: 15,481,984 (GRCm39)	T115A	probably damaging	Het
Supv3l1	A	G	10: 62,277,016 (GRCm39)	C251R	probably damaging	Het
Svopl	T	C	6: 37,998,543 (GRCm39)	S244G	probably benign	Het
Tes	T	C	6: 17,099,862 (GRCm39)	Y286H	probably damaging	Het
Tnfrsf22	G	A	7: 143,193,641 (GRCm39)		probably benign	Het
Vmn1r185	A	G	7: 26,311,160 (GRCm39)	I115T	probably damaging	Het
Vmn2r-ps117	A	G	17: 19,058,552 (GRCm39)	T703A	possibly damaging	Het
Zan	T	A	5: 137,454,566 (GRCm39)	I1413L	unknown	Het
Zc3h12d	G	T	10: 7,743,425 (GRCm39)	M398I	probably benign	Het
Zfp219	G	A	14: 52,244,118 (GRCm39)	T642M	probably benign	Het
Zfp646	G	A	7: 127,479,892 (GRCm39)	E690K	possibly damaging	Het
Zfr	T	A	15: 12,136,541 (GRCm39)	V66D	unknown	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
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
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'- TCATGGGTTCACATCAGAGCC -3'
(R):5'- TCCGGCATAGGGCTTTGAAG -3'

Sequencing Primer
(F):5'- TCAGAGCCACACAGTCCTG -3'
(R):5'- GAAGCAGTGATTGACAGATCTCTCTC -3'

Posted On

2018-11-06