Mutagenetix > Incidental Mutation

Incidental Mutation 'R8176:Abca6'

634359

Institutional Source

Beutler Lab

Gene Symbol

Abca6

Ensembl Gene

ENSMUSG00000044749

Gene Name

ATP-binding cassette, sub-family A member 6

Synonyms

6330565N06Rik

MMRRC Submission

067601-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8176 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110067646-110142602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 110135020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 255 (V255G)

Ref Sequence

ENSEMBL: ENSMUSP00000035458 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044003]

AlphaFold

Q8K441

Predicted Effect

probably benign
Transcript: ENSMUST00000044003
AA Change: V255G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000035458
Gene: ENSMUSG00000044749
AA Change: V255G

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	28	416	1.4e-42	PFAM
low complexity region	484	495	N/A	INTRINSIC
AAA	506	691	1.13e-6	SMART
transmembrane domain	854	876	N/A	INTRINSIC
transmembrane domain	971	990	N/A	INTRINSIC
transmembrane domain	1005	1027	N/A	INTRINSIC
Blast:AAA	1041	1176	4e-21	BLAST
transmembrane domain	1191	1213	N/A	INTRINSIC
low complexity region	1243	1254	N/A	INTRINSIC
AAA	1312	1505	2.43e-6	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24 and may play a role in macrophage lipid homeostasis. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030469F06Rik	T	A	12: 31,235,135 (GRCm39)	F172I	noncoding transcript	Het
Aatk	A	G	11: 119,907,241 (GRCm39)	V154A	probably damaging	Het
Adam8	T	C	7: 139,568,786 (GRCm39)	K211E	probably benign	Het
Alg12	A	G	15: 88,690,084 (GRCm39)	V470A	possibly damaging	Het
Anks1b	C	A	10: 89,905,353 (GRCm39)	H231Q	probably damaging	Het
Bcl2	T	C	1: 106,640,528 (GRCm39)	Y28C	probably damaging	Het
Bms1	G	T	6: 118,395,411 (GRCm39)	F45L	probably damaging	Het
Btd	T	A	14: 31,384,073 (GRCm39)	F20I	probably benign	Het
C1rl	T	C	6: 124,470,844 (GRCm39)	S51P	probably benign	Het
Capn7	C	A	14: 31,069,729 (GRCm39)	F184L	probably benign	Het
Cd300lg	A	T	11: 101,932,390 (GRCm39)		probably benign	Het
Cdc34	T	C	10: 79,518,362 (GRCm39)	Y39H	probably damaging	Het
Cenpe	A	G	3: 134,935,851 (GRCm39)	K429E	probably damaging	Het
Cfap43	T	C	19: 47,784,114 (GRCm39)	N473S	probably benign	Het
Cntln	C	T	4: 84,806,926 (GRCm39)	T136I	probably damaging	Het
Cyfip1	A	T	7: 55,574,175 (GRCm39)	L1032F	probably benign	Het
Dach1	C	T	14: 98,153,916 (GRCm39)	V392I	probably benign	Het
Dnah14	C	T	1: 181,484,598 (GRCm39)	S1590L	probably damaging	Het
Dsp	T	C	13: 38,376,786 (GRCm39)	Y1524H	possibly damaging	Het
Dusp13b	T	C	14: 21,797,549 (GRCm39)	I103V	possibly damaging	Het
Eeig1	A	G	2: 32,453,624 (GRCm39)	T158A	probably benign	Het
Efhb	T	C	17: 53,707,874 (GRCm39)	Y763C	probably damaging	Het
Fam117a	G	T	11: 95,227,965 (GRCm39)	R25L	unknown	Het
Fcgbp	T	C	7: 27,791,174 (GRCm39)	S812P	possibly damaging	Het
Fgd5	T	A	6: 91,964,965 (GRCm39)	N399K	probably benign	Het
Foxi3	T	A	6: 70,934,017 (GRCm39)	I168N	probably damaging	Het
Frem2	A	T	3: 53,562,761 (GRCm39)	I582K	possibly damaging	Het
Gm21915	T	A	9: 40,582,266 (GRCm39)	S120T	probably benign	Het
Gtf3c5	A	G	2: 28,460,429 (GRCm39)		probably null	Het
Hecw1	A	T	13: 14,422,286 (GRCm39)		probably null	Het
Hsf2	T	A	10: 57,381,290 (GRCm39)	Y293*	probably null	Het
Ints10	T	A	8: 69,255,603 (GRCm39)	Y198N	probably damaging	Het
Iqgap3	A	G	3: 88,001,957 (GRCm39)	E399G	probably damaging	Het
Itsn1	T	A	16: 91,645,597 (GRCm39)		probably null	Het
Kcnh8	T	C	17: 53,285,122 (GRCm39)	S1031P	probably damaging	Het
Llgl1	A	G	11: 60,597,387 (GRCm39)	T279A	probably benign	Het
Ly6a	C	T	15: 74,868,300 (GRCm39)		probably null	Het
Marchf4	T	C	1: 72,573,998 (GRCm39)	E100G	probably damaging	Het
Mta1	A	G	12: 113,084,456 (GRCm39)	E84G	probably benign	Het
Myh7b	A	G	2: 155,467,886 (GRCm39)	Y808C	probably benign	Het
Ncoa1	A	G	12: 4,317,858 (GRCm39)	V1158A	possibly damaging	Het
Npepps	A	G	11: 97,126,977 (GRCm39)	S428P	probably damaging	Het
Onecut2	A	T	18: 64,473,931 (GRCm39)	T161S	possibly damaging	Het
Or10j27	C	T	1: 172,958,383 (GRCm39)	V134I	probably benign	Het
Or52e19b	G	A	7: 103,033,071 (GRCm39)	T46I	probably benign	Het
Or6c5	T	G	10: 129,074,747 (GRCm39)	M243R	probably benign	Het
Pdp2	A	G	8: 105,321,687 (GRCm39)	D512G	probably damaging	Het
Pex11b	G	T	3: 96,551,027 (GRCm39)	V171L	probably benign	Het
Potefam2	T	C	7: 62,432,783 (GRCm39)		probably null	Het
Ppil3	A	T	1: 58,480,078 (GRCm39)	C32*	probably null	Het
Prune2	T	C	19: 17,095,656 (GRCm39)	Y387H	probably damaging	Het
Rbp3	C	A	14: 33,677,605 (GRCm39)	H518N	possibly damaging	Het
Rhot2	T	C	17: 26,063,068 (GRCm39)	Y58C	probably damaging	Het
Sec16b	C	A	1: 157,362,981 (GRCm39)	H271N	probably damaging	Het
Sgo2a	A	G	1: 58,056,252 (GRCm39)	D812G	possibly damaging	Het
Skap2	T	C	6: 51,884,878 (GRCm39)	E261G	probably damaging	Het
Spata31d1b	A	G	13: 59,865,117 (GRCm39)	N755S	probably benign	Het
Stat5a	T	A	11: 100,767,689 (GRCm39)	M419K	probably damaging	Het
Tecta	C	T	9: 42,270,465 (GRCm39)	C1281Y	probably damaging	Het
Tm9sf2	T	G	14: 122,374,913 (GRCm39)	S196R	probably benign	Het
Trpm8	A	T	1: 88,292,837 (GRCm39)	H946L	probably benign	Het

Other mutations in Abca6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Abca6	APN	11	110,075,535 (GRCm39)	missense	probably damaging	1.00
IGL00569:Abca6	APN	11	110,077,875 (GRCm39)	missense	possibly damaging	0.88
IGL00737:Abca6	APN	11	110,087,823 (GRCm39)	splice site	probably benign
IGL01024:Abca6	APN	11	110,087,968 (GRCm39)	missense	probably benign
IGL01087:Abca6	APN	11	110,082,476 (GRCm39)	missense	probably benign	0.00
IGL01511:Abca6	APN	11	110,135,136 (GRCm39)	missense	probably benign	0.00
IGL01516:Abca6	APN	11	110,109,043 (GRCm39)	missense	possibly damaging	0.70
IGL01621:Abca6	APN	11	110,075,534 (GRCm39)	missense	probably damaging	1.00
IGL01749:Abca6	APN	11	110,135,050 (GRCm39)	missense	probably damaging	1.00
IGL01934:Abca6	APN	11	110,079,481 (GRCm39)	missense	probably benign	0.00
IGL02010:Abca6	APN	11	110,110,442 (GRCm39)	missense	probably benign	0.12
IGL02121:Abca6	APN	11	110,073,750 (GRCm39)	missense	probably benign	0.38
IGL02423:Abca6	APN	11	110,109,832 (GRCm39)	splice site	probably benign
IGL02428:Abca6	APN	11	110,069,618 (GRCm39)	missense	possibly damaging	0.81
IGL02491:Abca6	APN	11	110,067,794 (GRCm39)	utr 3 prime	probably benign
IGL02541:Abca6	APN	11	110,103,093 (GRCm39)	missense	probably damaging	1.00
IGL02792:Abca6	APN	11	110,079,507 (GRCm39)	missense	probably damaging	0.99
IGL02836:Abca6	APN	11	110,139,374 (GRCm39)	missense	probably damaging	1.00
IGL02965:Abca6	APN	11	110,071,439 (GRCm39)	missense	probably benign
IGL03094:Abca6	APN	11	110,074,938 (GRCm39)	missense	probably benign	0.03
IGL03109:Abca6	APN	11	110,071,173 (GRCm39)	missense	probably damaging	0.96
R0068:Abca6	UTSW	11	110,073,708 (GRCm39)	missense	probably damaging	1.00
R0142:Abca6	UTSW	11	110,079,467 (GRCm39)	missense	probably damaging	1.00
R0165:Abca6	UTSW	11	110,110,430 (GRCm39)	missense	possibly damaging	0.90
R0254:Abca6	UTSW	11	110,127,615 (GRCm39)	missense	probably benign	0.16
R0598:Abca6	UTSW	11	110,087,980 (GRCm39)	missense	probably damaging	1.00
R0992:Abca6	UTSW	11	110,102,510 (GRCm39)	missense	probably damaging	1.00
R1386:Abca6	UTSW	11	110,135,081 (GRCm39)	missense	probably benign	0.02
R1642:Abca6	UTSW	11	110,109,107 (GRCm39)	missense	possibly damaging	0.73
R1673:Abca6	UTSW	11	110,103,165 (GRCm39)	missense	probably benign	0.01
R1792:Abca6	UTSW	11	110,074,870 (GRCm39)	missense	probably benign	0.00
R1813:Abca6	UTSW	11	110,124,671 (GRCm39)	splice site	probably benign
R1817:Abca6	UTSW	11	110,110,144 (GRCm39)	missense	probably benign	0.00
R1842:Abca6	UTSW	11	110,087,865 (GRCm39)	missense	probably benign	0.00
R1898:Abca6	UTSW	11	110,099,625 (GRCm39)	missense	probably damaging	0.99
R1914:Abca6	UTSW	11	110,103,036 (GRCm39)	missense	probably benign	0.06
R1915:Abca6	UTSW	11	110,103,036 (GRCm39)	missense	probably benign	0.06
R1934:Abca6	UTSW	11	110,100,909 (GRCm39)	critical splice donor site	probably null
R1964:Abca6	UTSW	11	110,075,502 (GRCm39)	missense	probably damaging	0.98
R1967:Abca6	UTSW	11	110,077,974 (GRCm39)	missense	probably benign	0.09
R2127:Abca6	UTSW	11	110,110,475 (GRCm39)	missense	probably benign	0.00
R2128:Abca6	UTSW	11	110,110,475 (GRCm39)	missense	probably benign	0.00
R2164:Abca6	UTSW	11	110,101,019 (GRCm39)	frame shift	probably null
R2895:Abca6	UTSW	11	110,093,252 (GRCm39)	missense	probably benign	0.00
R3110:Abca6	UTSW	11	110,069,655 (GRCm39)	nonsense	probably null
R3111:Abca6	UTSW	11	110,069,655 (GRCm39)	nonsense	probably null
R3112:Abca6	UTSW	11	110,069,655 (GRCm39)	nonsense	probably null
R4094:Abca6	UTSW	11	110,071,192 (GRCm39)	missense	probably damaging	1.00
R4432:Abca6	UTSW	11	110,132,414 (GRCm39)	missense	probably benign	0.11
R4474:Abca6	UTSW	11	110,124,598 (GRCm39)	missense	possibly damaging	0.46
R4572:Abca6	UTSW	11	110,107,374 (GRCm39)	missense	probably benign	0.31
R4629:Abca6	UTSW	11	110,121,375 (GRCm39)	critical splice acceptor site	probably null
R4793:Abca6	UTSW	11	110,082,544 (GRCm39)	missense	probably benign
R4852:Abca6	UTSW	11	110,135,029 (GRCm39)	missense	probably benign	0.09
R4867:Abca6	UTSW	11	110,093,205 (GRCm39)	missense	probably benign	0.01
R4879:Abca6	UTSW	11	110,110,526 (GRCm39)	missense	probably damaging	0.98
R4918:Abca6	UTSW	11	110,071,377 (GRCm39)	missense	probably damaging	1.00
R5060:Abca6	UTSW	11	110,110,430 (GRCm39)	missense	possibly damaging	0.90
R5062:Abca6	UTSW	11	110,067,892 (GRCm39)	missense	probably benign	0.12
R5083:Abca6	UTSW	11	110,109,793 (GRCm39)	missense	probably damaging	1.00
R5173:Abca6	UTSW	11	110,082,546 (GRCm39)	missense	probably benign
R5393:Abca6	UTSW	11	110,135,121 (GRCm39)	missense	probably benign	0.00
R5484:Abca6	UTSW	11	110,074,899 (GRCm39)	missense	probably damaging	1.00
R5498:Abca6	UTSW	11	110,099,670 (GRCm39)	missense	possibly damaging	0.95
R5503:Abca6	UTSW	11	110,109,083 (GRCm39)	missense	probably damaging	1.00
R5645:Abca6	UTSW	11	110,141,234 (GRCm39)	missense	probably damaging	0.99
R5680:Abca6	UTSW	11	110,127,471 (GRCm39)	missense	possibly damaging	0.88
R5761:Abca6	UTSW	11	110,100,927 (GRCm39)	missense	probably damaging	1.00
R5779:Abca6	UTSW	11	110,075,496 (GRCm39)	missense	probably benign	0.37
R5818:Abca6	UTSW	11	110,110,469 (GRCm39)	missense	probably damaging	1.00
R6282:Abca6	UTSW	11	110,099,650 (GRCm39)	missense	probably damaging	0.98
R6455:Abca6	UTSW	11	110,132,407 (GRCm39)	missense	probably damaging	1.00
R6826:Abca6	UTSW	11	110,107,431 (GRCm39)	missense	probably benign	0.15
R6857:Abca6	UTSW	11	110,110,514 (GRCm39)	missense	possibly damaging	0.63
R6914:Abca6	UTSW	11	110,081,064 (GRCm39)	missense	probably benign
R6931:Abca6	UTSW	11	110,135,154 (GRCm39)	missense	probably benign	0.27
R7222:Abca6	UTSW	11	110,082,519 (GRCm39)	missense	probably benign	0.29
R7242:Abca6	UTSW	11	110,132,479 (GRCm39)	missense	possibly damaging	0.47
R7297:Abca6	UTSW	11	110,073,852 (GRCm39)	critical splice donor site	probably null
R7387:Abca6	UTSW	11	110,093,246 (GRCm39)	missense	probably benign
R7420:Abca6	UTSW	11	110,141,303 (GRCm39)	missense	probably benign	0.24
R7494:Abca6	UTSW	11	110,099,571 (GRCm39)	missense	possibly damaging	0.93
R7603:Abca6	UTSW	11	110,071,084 (GRCm39)	missense	possibly damaging	0.69
R7637:Abca6	UTSW	11	110,109,778 (GRCm39)	missense	probably benign	0.00
R7674:Abca6	UTSW	11	110,110,123 (GRCm39)	missense	probably damaging	1.00
R7753:Abca6	UTSW	11	110,074,933 (GRCm39)	missense	probably damaging	1.00
R7800:Abca6	UTSW	11	110,078,698 (GRCm39)	missense	probably benign	0.00
R7842:Abca6	UTSW	11	110,087,523 (GRCm39)	missense	possibly damaging	0.76
R7855:Abca6	UTSW	11	110,082,454 (GRCm39)	missense	probably benign	0.01
R8119:Abca6	UTSW	11	110,087,930 (GRCm39)	missense	probably benign	0.00
R8139:Abca6	UTSW	11	110,074,959 (GRCm39)	missense	probably damaging	1.00
R8179:Abca6	UTSW	11	110,136,100 (GRCm39)	missense	probably damaging	1.00
R8197:Abca6	UTSW	11	110,102,641 (GRCm39)	missense	probably damaging	0.99
R8241:Abca6	UTSW	11	110,079,456 (GRCm39)	missense	probably null	1.00
R8404:Abca6	UTSW	11	110,110,145 (GRCm39)	missense	probably damaging	0.99
R8429:Abca6	UTSW	11	110,093,208 (GRCm39)	missense	probably benign
R8502:Abca6	UTSW	11	110,110,145 (GRCm39)	missense	probably damaging	0.99
R8816:Abca6	UTSW	11	110,127,513 (GRCm39)	missense	probably benign	0.04
R8964:Abca6	UTSW	11	110,139,363 (GRCm39)	missense	probably benign	0.00
R9153:Abca6	UTSW	11	110,107,481 (GRCm39)	missense	possibly damaging	0.61
R9233:Abca6	UTSW	11	110,082,496 (GRCm39)	missense	probably benign	0.31
R9407:Abca6	UTSW	11	110,093,210 (GRCm39)	nonsense	probably null
R9412:Abca6	UTSW	11	110,103,059 (GRCm39)	missense	probably damaging	0.99
R9453:Abca6	UTSW	11	110,138,090 (GRCm39)	critical splice donor site	probably null
R9533:Abca6	UTSW	11	110,102,582 (GRCm39)	missense	probably benign	0.16
R9546:Abca6	UTSW	11	110,135,042 (GRCm39)	nonsense	probably null
R9650:Abca6	UTSW	11	110,071,446 (GRCm39)	missense	probably benign	0.32
R9702:Abca6	UTSW	11	110,107,378 (GRCm39)	missense	probably damaging	1.00
R9709:Abca6	UTSW	11	110,102,589 (GRCm39)	missense	probably benign	0.01
X0024:Abca6	UTSW	11	110,135,081 (GRCm39)	missense	probably benign	0.02
X0064:Abca6	UTSW	11	110,087,968 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTCGATCATAGACGTTGCAAAG -3'
(R):5'- AGGAGCTGATGTCCATCGATG -3'

Sequencing Primer
(F):5'- AAAATCATGCTCACTGAGTTCCTTC -3'
(R):5'- CCATCGATGGGATCAATATGAAGAC -3'

Posted On

2020-07-13