Mutagenetix > Incidental Mutations

Incidental Mutation 'R4867:Abca6'

376260

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

042477-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4867 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110176820-110251776 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 110202379 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 1023 (V1023F)

Ref Sequence

ENSEMBL: ENSMUSP00000035458 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000044003
AA Change: V1023F

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000035458
Gene: ENSMUSG00000044749
AA Change: V1023F

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	C	8: 124,639,360	I215V	probably damaging	Het
4921509C19Rik	A	T	2: 151,472,822	L312*	probably null	Het
9930111J21Rik1	T	A	11: 48,948,548		probably null	Het
Ablim2	C	T	5: 35,802,422	R73C	possibly damaging	Het
Acsbg2	A	G	17: 56,862,914	I151T	possibly damaging	Het
Arhgap8	G	T	15: 84,740,766	L46F	probably benign	Het
Arid1a	G	A	4: 133,720,857	S115L	probably benign	Het
B4galnt2	T	C	11: 95,868,426	D344G	probably damaging	Het
BC005561	T	C	5: 104,521,002	I1130T	possibly damaging	Het
Ccdc40	T	C	11: 119,231,788	S139P	probably benign	Het
Ccnjl	T	C	11: 43,583,228	V210A	possibly damaging	Het
Cdk5rap1	C	T	2: 154,370,956		probably null	Het
Cog4	T	C	8: 110,866,610	V451A	probably damaging	Het
Crb1	A	T	1: 139,243,014	N818K	probably damaging	Het
Crtc1	T	C	8: 70,402,514	D152G	probably damaging	Het
Cse1l	T	A	2: 166,926,403	I207N	possibly damaging	Het
Cux1	TGGCAGGCGCG	TG	5: 136,274,961		probably benign	Het
Cyp2j13	T	C	4: 96,058,998	Y272C	possibly damaging	Het
Cyp4f16	T	C	17: 32,550,750	F445L	possibly damaging	Het
Dlc1	T	C	8: 36,584,645	H644R	probably benign	Het
Ecm2	A	T	13: 49,531,345	I643F	probably damaging	Het
Eogt	A	T	6: 97,120,147		probably benign	Het
Fbxo41	A	C	6: 85,475,194	S777A	probably benign	Het
Fga	T	A	3: 83,028,644	D59E	probably benign	Het
Flt3	A	T	5: 147,334,440	V897D	probably damaging	Het
Fmn1	G	T	2: 113,584,120		probably null	Het
Frem3	T	C	8: 80,613,283	L735P	probably damaging	Het
Ftmt	A	T	18: 52,332,053	D147V	possibly damaging	Het
Gabpa	T	A	16: 84,857,468	D344E	probably benign	Het
Gm4788	A	T	1: 139,774,475		probably null	Het
Gtf3a	C	T	5: 146,951,913	Q145*	probably null	Het
Il1f5	A	T	2: 24,280,835	N48I	probably damaging	Het
Iqca	A	G	1: 90,089,504	L403S	probably benign	Het
Jrk	C	T	15: 74,707,220	R72Q	probably benign	Het
Kif19a	G	A	11: 114,767,227	M37I	probably benign	Het
Krt12	T	C	11: 99,416,963	D433G	possibly damaging	Het
Lce1h	A	T	3: 92,763,463	S127R	unknown	Het
Lrrc7	T	G	3: 158,161,005	Y1033S	probably damaging	Het
Macf1	A	G	4: 123,472,200	S1358P	probably damaging	Het
Mfsd1	T	A	3: 67,587,987		probably null	Het
Mki67	T	C	7: 135,699,856	T1150A	probably damaging	Het
Nadk2	A	G	15: 9,098,857	I291M	possibly damaging	Het
Olfr309	T	C	7: 86,306,283	T277A	probably benign	Het
Olfr340	A	C	2: 36,453,199	M205L	probably benign	Het
Olfr456	A	G	6: 42,487,097	V32A	probably benign	Het
Olfr49	T	A	14: 54,282,629	T89S	probably benign	Het
Olfr829	A	T	9: 18,857,566	I305F	probably benign	Het
Parp14	T	A	16: 35,857,327	Y757F	probably benign	Het
Pcdh18	T	C	3: 49,754,664	Y734C	probably damaging	Het
Pcnx4	T	C	12: 72,573,952	S849P	probably benign	Het
Pds5a	T	C	5: 65,644,120	K595E	probably damaging	Het
Prkg2	T	A	5: 99,024,709	Y49F	probably benign	Het
Ptgdr	G	T	14: 44,858,796	P153Q	probably damaging	Het
Rbm12b2	T	C	4: 12,094,805	S555P	probably damaging	Het
Rhog	T	G	7: 102,240,150	Y32S	probably damaging	Het
Rnf141	T	C	7: 110,816,768	T209A	probably damaging	Het
Rtkn2	T	C	10: 68,001,927	I103T	probably damaging	Het
Scn5a	G	T	9: 119,550,671	C182*	probably null	Het
Sema3a	A	G	5: 13,451,241	N84D	probably benign	Het
Sema5a	G	T	15: 32,550,290	M158I	possibly damaging	Het
Shprh	T	A	10: 11,164,557	D71E	probably benign	Het
Slc26a8	A	G	17: 28,663,634	I239T	probably benign	Het
Slco4c1	G	A	1: 96,841,228	P303L	probably damaging	Het
Ston1	C	T	17: 88,635,694	A176V	probably damaging	Het
Sult2a5	T	C	7: 13,624,051	S3P	probably benign	Het
Tango6	T	A	8: 106,818,526	V1007E	probably damaging	Het
Tank	G	A	2: 61,578,635		probably benign	Het
Tas2r124	A	G	6: 132,755,193	Y155C	probably damaging	Het
Tenm3	G	A	8: 48,235,821	R2244W	probably damaging	Het
Tlk1	A	T	2: 70,721,571	Y585*	probably null	Het
Tmem221	C	T	8: 71,555,140	E214K	probably benign	Het
Tmem38a	T	C	8: 72,581,233	V172A	possibly damaging	Het
Tspo2	C	T	17: 48,448,677	A146T	possibly damaging	Het
Ttc3	G	A	16: 94,454,515	A1268T	probably damaging	Het
Usp25	T	A	16: 77,050,467	D154E	probably damaging	Het
Usp34	T	C	11: 23,451,999	F2410L	probably benign	Het
Vmn1r128	T	A	7: 21,350,014	H214Q	possibly damaging	Het
Vmn1r24	A	C	6: 57,956,436	C32W	probably damaging	Het
Zfp931	T	A	2: 178,068,062	H177L	probably damaging	Het
Znrf1	T	C	8: 111,537,566		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CCACCTAACTTTGAAGTAAGAACAG -3'
(R):5'- AGGTCCTAGAATATTCTCAGCTTC -3'

Sequencing Primer
(F):5'- TGGCCTACAGATTGAGTTCCAG -3'
(R):5'- CTTTTGTGTTTTGAGCTGAAGTCTCC -3'

Posted On

2016-03-17