Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02792:Abca6'

359797

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abca6

Ensembl Gene

ENSMUSG00000044749

Gene Name

ATP-binding cassette, sub-family A (ABC1), member 6

Synonyms

6330565N06Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02792

Quality Score

Status

Chromosome

Chromosomal Location

110176820-110251776 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110188681 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 1216 (C1216S)

Ref Sequence

ENSEMBL: ENSMUSP00000035458 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000044003
AA Change: C1216S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035458
Gene: ENSMUSG00000044749
AA Change: C1216S

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	A	17: 48,090,587	V131M	probably benign	Het
Acly	T	C	11: 100,478,410	K1018E	probably damaging	Het
Acsl5	G	A	19: 55,293,731		probably null	Het
Adgrb1	C	A	15: 74,547,622	L771I	probably damaging	Het
Adh7	A	T	3: 138,223,737	K89I	probably damaging	Het
Adora2b	A	T	11: 62,265,483	I253F	possibly damaging	Het
Akna	G	A	4: 63,377,706	P975S	possibly damaging	Het
Alg9	T	C	9: 50,842,748	L576P	possibly damaging	Het
Arhgap20	A	G	9: 51,849,918	E1023G	possibly damaging	Het
Astn2	A	T	4: 65,644,821	S908T	probably benign	Het
Atp1a4	C	T	1: 172,227,299		probably null	Het
Cabin1	T	C	10: 75,746,739	Y281C	probably damaging	Het
Cdc42bpb	G	T	12: 111,299,561	F1312L	probably benign	Het
Cfap65	A	C	1: 74,927,178	F330C	probably damaging	Het
Col27a1	C	T	4: 63,315,583	P689S	unknown	Het
Col4a3	A	T	1: 82,718,803	K1643N	probably damaging	Het
Dopey2	T	A	16: 93,801,572	V1875D	possibly damaging	Het
Eftud2	A	G	11: 102,870,256		probably benign	Het
Ergic3	C	A	2: 156,017,850	T357K	probably damaging	Het
Glra1	A	T	11: 55,536,400	D36E	probably damaging	Het
Gpatch1	A	G	7: 35,301,593	Y330H	probably damaging	Het
Hmcn2	T	C	2: 31,346,590	S382P	probably damaging	Het
Kat6a	G	A	8: 22,938,300	E1224K	probably damaging	Het
Klk13	A	G	7: 43,721,414	E29G	possibly damaging	Het
Klra9	T	C	6: 130,188,680	D124G	probably benign	Het
Lrmda	T	C	14: 22,019,910		probably null	Het
Ltbp1	G	A	17: 75,282,994	V539M	probably damaging	Het
Ngfr	A	C	11: 95,571,861	L317R	probably damaging	Het
Nlrp6	C	A	7: 140,922,435	H151Q	probably damaging	Het
Nnt	A	G	13: 119,357,646	L633P	probably damaging	Het
Nxpe3	C	T	16: 55,866,172	V158M	probably damaging	Het
Olfr266	T	C	3: 106,822,140	T140A	probably damaging	Het
Olfr716	T	C	7: 107,148,218	F301L	probably benign	Het
Olfr828	C	T	9: 18,815,958	S112N	probably benign	Het
Pla2g4f	T	C	2: 120,303,369	Y517C	probably damaging	Het
Poc1a	A	T	9: 106,295,194	I207F	possibly damaging	Het
Polr2a	A	G	11: 69,746,112	S338P	probably damaging	Het
Ptprz1	T	C	6: 22,959,723	V73A	probably damaging	Het
Relb	A	T	7: 19,613,864	L281Q	probably damaging	Het
Rrp8	A	T	7: 105,733,811	L382*	probably null	Het
Setd1a	C	T	7: 127,791,350	S523F	unknown	Het
Slamf8	A	G	1: 172,588,130	I47T	probably damaging	Het
Slc16a4	G	A	3: 107,298,877	A88T	probably benign	Het
Sox6	C	T	7: 115,541,649	M532I	probably benign	Het
Tcp11l1	T	A	2: 104,681,820	Y489F	probably benign	Het
Tdrd6	T	G	17: 43,625,027	D1710A	probably benign	Het
Trim58	C	T	11: 58,640,466		probably benign	Het
Vangl1	A	T	3: 102,163,423	I399N	probably damaging	Het
Vmn1r201	T	C	13: 22,474,844	L76P	probably damaging	Het
Vmn1r58	T	C	7: 5,411,229	M1V	probably null	Het
Wdfy4	T	C	14: 33,095,305	I1561V	probably benign	Het
Xkr9	A	G	1: 13,700,803	D181G	probably damaging	Het
Zfp318	T	C	17: 46,409,178	F1101L	probably damaging	Het
Zfpm2	C	A	15: 41,103,013	Q833K	probably benign	Het

Other mutations in Abca6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Abca6	APN	11	110184709	missense	probably damaging	1.00
IGL00569:Abca6	APN	11	110187049	missense	possibly damaging	0.88
IGL00737:Abca6	APN	11	110196997	splice site	probably benign
IGL01024:Abca6	APN	11	110197142	missense	probably benign
IGL01087:Abca6	APN	11	110191650	missense	probably benign	0.00
IGL01511:Abca6	APN	11	110244310	missense	probably benign	0.00
IGL01516:Abca6	APN	11	110218217	missense	possibly damaging	0.70
IGL01621:Abca6	APN	11	110184708	missense	probably damaging	1.00
IGL01749:Abca6	APN	11	110244224	missense	probably damaging	1.00
IGL01934:Abca6	APN	11	110188655	missense	probably benign	0.00
IGL02010:Abca6	APN	11	110219616	missense	probably benign	0.12
IGL02121:Abca6	APN	11	110182924	missense	probably benign	0.38
IGL02423:Abca6	APN	11	110219006	splice site	probably benign
IGL02428:Abca6	APN	11	110178792	missense	possibly damaging	0.81
IGL02491:Abca6	APN	11	110176968	utr 3 prime	probably benign
IGL02541:Abca6	APN	11	110212267	missense	probably damaging	1.00
IGL02836:Abca6	APN	11	110248548	missense	probably damaging	1.00
IGL02965:Abca6	APN	11	110180613	missense	probably benign
IGL03094:Abca6	APN	11	110184112	missense	probably benign	0.03
IGL03109:Abca6	APN	11	110180347	missense	probably damaging	0.96
R0068:Abca6	UTSW	11	110182882	missense	probably damaging	1.00
R0142:Abca6	UTSW	11	110188641	missense	probably damaging	1.00
R0165:Abca6	UTSW	11	110219604	missense	possibly damaging	0.90
R0254:Abca6	UTSW	11	110236789	missense	probably benign	0.16
R0598:Abca6	UTSW	11	110197154	missense	probably damaging	1.00
R0992:Abca6	UTSW	11	110211684	missense	probably damaging	1.00
R1386:Abca6	UTSW	11	110244255	missense	probably benign	0.02
R1642:Abca6	UTSW	11	110218281	missense	possibly damaging	0.73
R1673:Abca6	UTSW	11	110212339	missense	probably benign	0.01
R1792:Abca6	UTSW	11	110184044	missense	probably benign	0.00
R1813:Abca6	UTSW	11	110233845	splice site	probably benign
R1817:Abca6	UTSW	11	110219318	missense	probably benign	0.00
R1842:Abca6	UTSW	11	110197039	missense	probably benign	0.00
R1898:Abca6	UTSW	11	110208799	missense	probably damaging	0.99
R1914:Abca6	UTSW	11	110212210	missense	probably benign	0.06
R1915:Abca6	UTSW	11	110212210	missense	probably benign	0.06
R1934:Abca6	UTSW	11	110210083	critical splice donor site	probably null
R1964:Abca6	UTSW	11	110184676	missense	probably damaging	0.98
R1967:Abca6	UTSW	11	110187148	missense	probably benign	0.09
R2127:Abca6	UTSW	11	110219649	missense	probably benign	0.00
R2128:Abca6	UTSW	11	110219649	missense	probably benign	0.00
R2164:Abca6	UTSW	11	110210193	frame shift	probably null
R2895:Abca6	UTSW	11	110202426	missense	probably benign	0.00
R3110:Abca6	UTSW	11	110178829	nonsense	probably null
R3111:Abca6	UTSW	11	110178829	nonsense	probably null
R3112:Abca6	UTSW	11	110178829	nonsense	probably null
R4094:Abca6	UTSW	11	110180366	missense	probably damaging	1.00
R4432:Abca6	UTSW	11	110241588	missense	probably benign	0.11
R4474:Abca6	UTSW	11	110233772	missense	possibly damaging	0.46
R4572:Abca6	UTSW	11	110216548	missense	probably benign	0.31
R4629:Abca6	UTSW	11	110230549	critical splice acceptor site	probably null
R4793:Abca6	UTSW	11	110191718	missense	probably benign
R4852:Abca6	UTSW	11	110244203	missense	probably benign	0.09
R4867:Abca6	UTSW	11	110202379	missense	probably benign	0.01
R4879:Abca6	UTSW	11	110219700	missense	probably damaging	0.98
R4918:Abca6	UTSW	11	110180551	missense	probably damaging	1.00
R5060:Abca6	UTSW	11	110219604	missense	possibly damaging	0.90
R5062:Abca6	UTSW	11	110177066	missense	probably benign	0.12
R5083:Abca6	UTSW	11	110218967	missense	probably damaging	1.00
R5173:Abca6	UTSW	11	110191720	missense	probably benign
R5393:Abca6	UTSW	11	110244295	missense	probably benign	0.00
R5484:Abca6	UTSW	11	110184073	missense	probably damaging	1.00
R5498:Abca6	UTSW	11	110208844	missense	possibly damaging	0.95
R5503:Abca6	UTSW	11	110218257	missense	probably damaging	1.00
R5645:Abca6	UTSW	11	110250408	missense	probably damaging	0.99
R5680:Abca6	UTSW	11	110236645	missense	possibly damaging	0.88
R5761:Abca6	UTSW	11	110210101	missense	probably damaging	1.00
R5779:Abca6	UTSW	11	110184670	missense	probably benign	0.37
R5818:Abca6	UTSW	11	110219643	missense	probably damaging	1.00
R6282:Abca6	UTSW	11	110208824	missense	probably damaging	0.98
R6455:Abca6	UTSW	11	110241581	missense	probably damaging	1.00
R6826:Abca6	UTSW	11	110216605	missense	probably benign	0.15
R6857:Abca6	UTSW	11	110219688	missense	possibly damaging	0.63
R6914:Abca6	UTSW	11	110190238	missense	probably benign
R6931:Abca6	UTSW	11	110244328	missense	probably benign	0.27
R7222:Abca6	UTSW	11	110191693	missense	probably benign	0.29
R7242:Abca6	UTSW	11	110241653	missense	possibly damaging	0.47
R7297:Abca6	UTSW	11	110183026	critical splice donor site	probably null
R7387:Abca6	UTSW	11	110202420	missense	probably benign
R7420:Abca6	UTSW	11	110250477	missense	probably benign	0.24
R7494:Abca6	UTSW	11	110208745	missense	possibly damaging	0.93
R7603:Abca6	UTSW	11	110180258	missense	possibly damaging	0.69
R7637:Abca6	UTSW	11	110218952	missense	probably benign	0.00
R7674:Abca6	UTSW	11	110219297	missense	probably damaging	1.00
R7753:Abca6	UTSW	11	110184107	missense	probably damaging	1.00
R7800:Abca6	UTSW	11	110187872	missense	probably benign	0.00
R7842:Abca6	UTSW	11	110196697	missense	possibly damaging	0.76
R7855:Abca6	UTSW	11	110191628	missense	probably benign	0.01
R7925:Abca6	UTSW	11	110196697	missense	possibly damaging	0.76
R7938:Abca6	UTSW	11	110191628	missense	probably benign	0.01
X0024:Abca6	UTSW	11	110244255	missense	probably benign	0.02
X0064:Abca6	UTSW	11	110197142	missense	probably benign	0.01

Posted On

2015-12-18