Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02423:Abca6'

292804

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abca6

Ensembl Gene

ENSMUSG00000044749

Gene Name

ATP-binding cassette, sub-family A member 6

Synonyms

6330565N06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02423

Quality Score

Status

Chromosome

Chromosomal Location

110067646-110142602 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 110109832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000035458 (fasta)

Gene Model

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

AlphaFold

Q8K441

Predicted Effect

probably benign
Transcript: ENSMUST00000044003

SMART Domains

Protein: ENSMUSP00000035458
Gene: ENSMUSG00000044749

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

Validation Efficiency

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
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Adarb2	A	T	13: 8,619,756 (GRCm39)	R81W	probably damaging	Het
Adgrf4	T	C	17: 42,983,467 (GRCm39)	I72V	probably benign	Het
Banp	A	G	8: 122,733,830 (GRCm39)	I360V	probably benign	Het
Bmp8a	C	A	4: 123,210,220 (GRCm39)	G289C	possibly damaging	Het
Car3	A	T	3: 14,931,911 (GRCm39)	H94L	probably damaging	Het
Ccdc137	G	A	11: 120,350,927 (GRCm39)	R108H	possibly damaging	Het
Cdk14	T	C	5: 4,938,905 (GRCm39)	N411S	probably benign	Het
Col4a2	A	G	8: 11,483,800 (GRCm39)	M907V	probably benign	Het
Cyp4f17	T	A	17: 32,725,923 (GRCm39)	W19R	possibly damaging	Het
Dmxl2	A	G	9: 54,301,032 (GRCm39)	S2360P	possibly damaging	Het
Eif2d	T	G	1: 131,081,097 (GRCm39)		probably benign	Het
Epx	A	G	11: 87,762,144 (GRCm39)	I369T	possibly damaging	Het
Fcgbp	A	G	7: 27,789,378 (GRCm39)	E648G	probably benign	Het
Fer1l4	G	A	2: 155,894,827 (GRCm39)	P14L	probably benign	Het
Folr1	A	G	7: 101,507,732 (GRCm39)	F236S	probably benign	Het
Foxj2	T	G	6: 122,819,732 (GRCm39)	M540R	possibly damaging	Het
Gtf2h1	A	G	7: 46,464,824 (GRCm39)	T420A	probably benign	Het
H2-T3	T	A	17: 36,498,248 (GRCm39)	T222S	probably damaging	Het
Ice1	A	T	13: 70,740,718 (GRCm39)	M2163K	probably damaging	Het
Inppl1	A	G	7: 101,481,450 (GRCm39)	V244A	probably benign	Het
Kansl3	A	T	1: 36,391,050 (GRCm39)	V373D	probably damaging	Het
Kdm3a	A	G	6: 71,590,987 (GRCm39)		probably benign	Het
Krtap1-3	A	T	11: 99,481,680 (GRCm39)	C156S	unknown	Het
Mab21l3	T	C	3: 101,726,045 (GRCm39)	D317G	probably damaging	Het
Nherf1	A	G	11: 115,054,539 (GRCm39)		probably null	Het
Nox3	T	C	17: 3,733,191 (GRCm39)	H240R	probably damaging	Het
Nxn	A	T	11: 76,164,858 (GRCm39)	S218T	probably benign	Het
Or5h22	A	T	16: 58,894,630 (GRCm39)	I271K	probably benign	Het
Or6c35	G	A	10: 129,169,397 (GRCm39)	V216I	probably benign	Het
Pcdhb13	T	C	18: 37,577,392 (GRCm39)	V590A	possibly damaging	Het
Pim3	T	C	15: 88,747,734 (GRCm39)	V200A	probably benign	Het
Plekha3	T	C	2: 76,510,524 (GRCm39)	F20L	probably damaging	Het
Pmp22	G	T	11: 63,049,118 (GRCm39)	R120S	possibly damaging	Het
Ppp1r9a	A	C	6: 4,906,537 (GRCm39)	D364A	probably benign	Het
Psd	A	G	19: 46,302,943 (GRCm39)	F155L	possibly damaging	Het
Rbm22	T	C	18: 60,704,891 (GRCm39)		probably benign	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Ryr2	A	T	13: 11,760,084 (GRCm39)	F1556I	probably damaging	Het
Scap	G	A	9: 110,207,685 (GRCm39)	A465T	probably benign	Het
Sdf2	A	G	11: 78,141,844 (GRCm39)	S60G	probably damaging	Het
Sema3a	T	C	5: 13,615,776 (GRCm39)	I400T	probably damaging	Het
Ski	T	C	4: 155,244,191 (GRCm39)	D478G	probably damaging	Het
Slc12a7	A	T	13: 73,911,882 (GRCm39)		probably benign	Het
Sned1	A	G	1: 93,211,322 (GRCm39)	T1074A	probably benign	Het
Srebf2	A	G	15: 82,059,298 (GRCm39)	T239A	probably damaging	Het
Stk4	C	T	2: 163,928,419 (GRCm39)	H84Y	probably benign	Het
Syne1	G	T	10: 5,318,295 (GRCm39)	Q444K	probably benign	Het
Tecpr1	T	A	5: 144,140,305 (GRCm39)	I817F	possibly damaging	Het
Tep1	G	T	14: 51,082,077 (GRCm39)	Q1159K	possibly damaging	Het
Tmem39b	G	A	4: 129,572,442 (GRCm39)	H387Y	probably damaging	Het
Tpp1	T	C	7: 105,398,907 (GRCm39)	H174R	probably damaging	Het
Ttn	C	T	2: 76,535,617 (GRCm39)	V35134I	probably benign	Het
Usp34	A	G	11: 23,304,900 (GRCm39)	I378V	probably benign	Het
Vinac1	T	C	2: 128,889,968 (GRCm39)	E42G	probably benign	Het
Vmn2r1	T	A	3: 63,997,665 (GRCm39)	H440Q	probably benign	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Zcchc7	T	A	4: 44,931,244 (GRCm39)	D144E	possibly damaging	Het
Zic4	C	A	9: 91,266,228 (GRCm39)	H284N	probably damaging	Het
Zkscan6	A	G	11: 65,719,120 (GRCm39)	H380R	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
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
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

Posted On

2015-04-16