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 (ABC1), member 6

Synonyms

6330565N06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8176 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110176820-110251776 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 110244194 bp (GRCm38)

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: 31,185,136	F172I	noncoding transcript	Het
A26c2	T	C	7: 62,783,035		probably null	Het
Aatk	A	G	11: 120,016,415	V154A	probably damaging	Het
Adam8	T	C	7: 139,988,873	K211E	probably benign	Het
Alg12	A	G	15: 88,805,881	V470A	possibly damaging	Het
Anks1b	C	A	10: 90,069,491	H231Q	probably damaging	Het
Bcl2	T	C	1: 106,712,798	Y28C	probably damaging	Het
Bms1	G	T	6: 118,418,450	F45L	probably damaging	Het
Btd	T	A	14: 31,662,116	F20I	probably benign	Het
C1rl	T	C	6: 124,493,885	S51P	probably benign	Het
Capn7	C	A	14: 31,347,772	F184L	probably benign	Het
Cd300lg	A	T	11: 102,041,564		probably benign	Het
Cdc34	T	C	10: 79,682,528	Y39H	probably damaging	Het
Cenpe	A	G	3: 135,230,090	K429E	probably damaging	Het
Cfap43	T	C	19: 47,795,675	N473S	probably benign	Het
Cntln	C	T	4: 84,888,689	T136I	probably damaging	Het
Cyfip1	A	T	7: 55,924,427	L1032F	probably benign	Het
Dach1	C	T	14: 97,916,480	V392I	probably benign	Het
Dnah14	C	T	1: 181,657,033	S1590L	probably damaging	Het
Dsp	T	C	13: 38,192,810	Y1524H	possibly damaging	Het
Dusp13	T	C	14: 21,747,481	I103V	possibly damaging	Het
Efhb	T	C	17: 53,400,846	Y763C	probably damaging	Het
Fam102a	A	G	2: 32,563,612	T158A	probably benign	Het
Fam117a	G	T	11: 95,337,139	R25L	unknown	Het
Fcgbp	T	C	7: 28,091,749	S812P	possibly damaging	Het
Fgd5	T	A	6: 91,987,984	N399K	probably benign	Het
Foxi3	T	A	6: 70,957,033	I168N	probably damaging	Het
Frem2	A	T	3: 53,655,340	I582K	possibly damaging	Het
Gm21915	T	A	9: 40,670,970	S120T	probably benign	Het
Gtf3c5	A	G	2: 28,570,417		probably null	Het
Hecw1	A	T	13: 14,247,701		probably null	Het
Hsf2	T	A	10: 57,505,194	Y293*	probably null	Het
Ints10	T	A	8: 68,802,951	Y198N	probably damaging	Het
Iqgap3	A	G	3: 88,094,650	E399G	probably damaging	Het
Itsn1	T	A	16: 91,848,709		probably null	Het
Kcnh8	T	C	17: 52,978,094	S1031P	probably damaging	Het
Llgl1	A	G	11: 60,706,561	T279A	probably benign	Het
Ly6a	C	T	15: 74,996,451		probably null	Het
March4	T	C	1: 72,534,839	E100G	probably damaging	Het
Mta1	A	G	12: 113,120,836	E84G	probably benign	Het
Myh7b	A	G	2: 155,625,966	Y808C	probably benign	Het
Ncoa1	A	G	12: 4,267,858	V1158A	possibly damaging	Het
Npepps	A	G	11: 97,236,151	S428P	probably damaging	Het
Olfr1408	C	T	1: 173,130,816	V134I	probably benign	Het
Olfr603	G	A	7: 103,383,864	T46I	probably benign	Het
Olfr774	T	G	10: 129,238,878	M243R	probably benign	Het
Onecut2	A	T	18: 64,340,860	T161S	possibly damaging	Het
Pdp2	A	G	8: 104,595,055	D512G	probably damaging	Het
Pex11b	G	T	3: 96,643,711	V171L	probably benign	Het
Ppil3	A	T	1: 58,440,919	C32*	probably null	Het
Prune2	T	C	19: 17,118,292	Y387H	probably damaging	Het
Rbp3	C	A	14: 33,955,648	H518N	possibly damaging	Het
Rhot2	T	C	17: 25,844,094	Y58C	probably damaging	Het
Sec16b	C	A	1: 157,535,411	H271N	probably damaging	Het
Sgo2a	A	G	1: 58,017,093	D812G	possibly damaging	Het
Skap2	T	C	6: 51,907,898	E261G	probably damaging	Het
Spata31d1b	A	G	13: 59,717,303	N755S	probably benign	Het
Stat5a	T	A	11: 100,876,863	M419K	probably damaging	Het
Tecta	C	T	9: 42,359,169	C1281Y	probably damaging	Het
Tm9sf2	T	G	14: 122,137,501	S196R	probably benign	Het
Trpm8	A	T	1: 88,365,115	H946L	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
IGL02792:Abca6	APN	11	110188681	missense	probably damaging	0.99
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
R8119:Abca6	UTSW	11	110197104	missense	probably benign	0.00
R8139:Abca6	UTSW	11	110184133	missense	probably damaging	1.00
R8179:Abca6	UTSW	11	110245274	missense	probably damaging	1.00
R8197:Abca6	UTSW	11	110211815	missense	probably damaging	0.99
R8241:Abca6	UTSW	11	110188630	missense	probably null	1.00
R8404:Abca6	UTSW	11	110219319	missense	probably damaging	0.99
R8429:Abca6	UTSW	11	110202382	missense	probably benign
R8502:Abca6	UTSW	11	110219319	missense	probably damaging	0.99
R8816:Abca6	UTSW	11	110236687	missense	probably benign	0.04
R8964:Abca6	UTSW	11	110248537	missense	probably benign	0.00
R9153:Abca6	UTSW	11	110216655	missense	possibly damaging	0.61
R9233:Abca6	UTSW	11	110191670	missense	probably benign	0.31
R9407:Abca6	UTSW	11	110202384	nonsense	probably null
R9412:Abca6	UTSW	11	110212233	missense	probably damaging	0.99
R9453:Abca6	UTSW	11	110247264	critical splice donor site	probably null
R9533:Abca6	UTSW	11	110211756	missense	probably benign	0.16
R9546:Abca6	UTSW	11	110244216	nonsense	probably null
R9650:Abca6	UTSW	11	110180620	missense	probably benign	0.32
R9702:Abca6	UTSW	11	110216552	missense	probably damaging	1.00
R9709:Abca6	UTSW	11	110211763	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

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