Mutagenetix > Incidental Mutation

Incidental Mutation 'R7222:Abca6'

561896

Institutional Source

Beutler Lab

Gene Symbol

Abca6

Ensembl Gene

ENSMUSG00000044749

Gene Name

ATP-binding cassette, sub-family A member 6

Synonyms

6330565N06Rik

MMRRC Submission

045294-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7222 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110067646-110142602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110082519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1151 (N1151K)

Ref Sequence

ENSEMBL: ENSMUSP00000035458 (fasta)

Gene Model

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

AlphaFold

Q8K441

Predicted Effect

probably benign
Transcript: ENSMUST00000044003
AA Change: N1151K

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000035458
Gene: ENSMUSG00000044749
AA Change: N1151K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (49/50)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add3	T	C	19: 53,205,277 (GRCm39)	V9A	unknown	Het
Ankar	A	G	1: 72,705,514 (GRCm39)	I832T	probably damaging	Het
Arhgef10l	C	A	4: 140,248,580 (GRCm39)	W785L	probably damaging	Het
Atp7b	G	A	8: 22,512,394 (GRCm39)	Q490*	probably null	Het
Chrna5	A	G	9: 54,905,347 (GRCm39)	D53G	probably benign	Het
Clip1	T	A	5: 123,749,904 (GRCm39)	N993I	probably damaging	Het
Cyp3a59	A	T	5: 146,033,385 (GRCm39)		probably null	Het
Dnah3	T	A	7: 119,670,746 (GRCm39)	N651Y	probably benign	Het
Dop1a	T	C	9: 86,404,929 (GRCm39)		probably null	Het
Eva1c	AGGGTGTCCTGTACGAAGGACTTCCGGG	AGGG	16: 90,701,072 (GRCm39)		probably benign	Het
Flg	T	A	3: 93,195,621 (GRCm39)	S74T	unknown	Het
Fras1	T	C	5: 96,784,045 (GRCm39)	Y850H	probably damaging	Het
Fras1	A	T	5: 96,784,668 (GRCm39)	T884S	probably benign	Het
Fsip2	A	G	2: 82,814,015 (GRCm39)	T3445A	probably benign	Het
Herc1	C	A	9: 66,374,781 (GRCm39)	P3237H	probably damaging	Het
Ifi35	A	G	11: 101,348,341 (GRCm39)	N123S	probably benign	Het
Igkv1-117	A	T	6: 68,098,733 (GRCm39)	D94V	probably damaging	Het
Kif1b	T	C	4: 149,309,614 (GRCm39)	D764G	probably damaging	Het
Lztr1	A	G	16: 17,341,996 (GRCm39)	E657G	possibly damaging	Het
Mmd2	G	T	5: 142,553,682 (GRCm39)	L160I	probably benign	Het
Muc2	A	T	7: 141,290,758 (GRCm39)	T15S		Het
Muc6	T	A	7: 141,214,428 (GRCm39)	H2835L	unknown	Het
Myo1h	G	A	5: 114,493,322 (GRCm39)		probably null	Het
Or10v5	C	A	19: 11,806,021 (GRCm39)	R123L	probably damaging	Het
Or51ag1	A	G	7: 103,155,664 (GRCm39)	V163A	possibly damaging	Het
Or52n4	T	C	7: 104,293,937 (GRCm39)	D214G	probably damaging	Het
Or5d43	T	A	2: 88,104,809 (GRCm39)	M195L	probably benign	Het
Or5p72	A	G	7: 108,021,844 (GRCm39)	D22G	probably benign	Het
Or6c219	A	G	10: 129,781,758 (GRCm39)	Y58H	probably damaging	Het
Or7g32	A	T	9: 19,388,763 (GRCm39)	V261E	probably damaging	Het
Osbpl7	A	G	11: 96,951,364 (GRCm39)	T684A	probably damaging	Het
P2ry14	T	C	3: 59,022,803 (GRCm39)	K219R	probably benign	Het
Pde4d	A	T	13: 109,894,113 (GRCm39)	H156L	probably damaging	Het
Polq	G	T	16: 36,906,995 (GRCm39)	E2319*	probably null	Het
Ranbp3	T	G	17: 57,017,211 (GRCm39)	V409G	probably damaging	Het
Sart3	T	C	5: 113,884,717 (GRCm39)	D629G	probably benign	Het
Selenon	T	A	4: 134,275,288 (GRCm39)	T137S	possibly damaging	Het
Setd2	T	A	9: 110,380,530 (GRCm39)	D55E		Het
Slamf8	G	A	1: 172,411,775 (GRCm39)	T240I	possibly damaging	Het
Slc39a10	A	G	1: 46,858,452 (GRCm39)	L615P	possibly damaging	Het
Speer1e	T	A	5: 11,233,080 (GRCm39)	N14K	probably damaging	Het
Tbce	T	C	13: 14,172,735 (GRCm39)	D505G	probably damaging	Het
Tenm3	C	T	8: 48,754,004 (GRCm39)	G800R	probably damaging	Het
Terf2ip	T	C	8: 112,738,547 (GRCm39)	V145A	possibly damaging	Het
Tmprss7	T	C	16: 45,511,256 (GRCm39)	I41V	probably benign	Het
Traj49	A	T	14: 54,406,160 (GRCm39)	N6I		Het
Trim30a	T	C	7: 104,070,639 (GRCm39)		probably null	Het
Ubr4	T	A	4: 139,190,684 (GRCm39)	S905T	unknown	Het
Unc93a2	A	G	17: 7,643,866 (GRCm39)	S148P	probably damaging	Het
Zfp948	T	A	17: 21,808,102 (GRCm39)	H431Q	probably damaging	Het
Zfyve1	A	G	12: 83,601,779 (GRCm39)	F525L	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
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
R8176:Abca6	UTSW	11	110,135,020 (GRCm39)	missense	probably benign	0.01
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'- AGAGCAATACTTCTCTCCGAGC -3'
(R):5'- AACTTTCTATTGGGGAGGTAGC -3'

Sequencing Primer
(F):5'- AATACTTCTCTCCGAGCCCACTC -3'
(R):5'- ACTTTCTATTGGGGAGGTAGCATTTC -3'

Posted On

2019-06-26