Mutagenetix > Incidental Mutation

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

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 (GRCm38)

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]

AlphaFold

Q8K441

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 (GRCm38)	I215V	probably damaging	Het
4921509C19Rik	A	T	2: 151,472,822 (GRCm38)	L312*	probably null	Het
9930111J21Rik1	T	A	11: 48,948,548 (GRCm38)		probably null	Het
Ablim2	C	T	5: 35,802,422 (GRCm38)	R73C	possibly damaging	Het
Acsbg2	A	G	17: 56,862,914 (GRCm38)	I151T	possibly damaging	Het
Arhgap8	G	T	15: 84,740,766 (GRCm38)	L46F	probably benign	Het
Arid1a	G	A	4: 133,720,857 (GRCm38)	S115L	probably benign	Het
B4galnt2	T	C	11: 95,868,426 (GRCm38)	D344G	probably damaging	Het
BC005561	T	C	5: 104,521,002 (GRCm38)	I1130T	possibly damaging	Het
Ccdc40	T	C	11: 119,231,788 (GRCm38)	S139P	probably benign	Het
Ccnjl	T	C	11: 43,583,228 (GRCm38)	V210A	possibly damaging	Het
Cdk5rap1	C	T	2: 154,370,956 (GRCm38)		probably null	Het
Cog4	T	C	8: 110,866,610 (GRCm38)	V451A	probably damaging	Het
Crb1	A	T	1: 139,243,014 (GRCm38)	N818K	probably damaging	Het
Crtc1	T	C	8: 70,402,514 (GRCm38)	D152G	probably damaging	Het
Cse1l	T	A	2: 166,926,403 (GRCm38)	I207N	possibly damaging	Het
Cux1	TGGCAGGCGCG	TG	5: 136,274,961 (GRCm38)		probably benign	Het
Cyp2j13	T	C	4: 96,058,998 (GRCm38)	Y272C	possibly damaging	Het
Cyp4f16	T	C	17: 32,550,750 (GRCm38)	F445L	possibly damaging	Het
Dlc1	T	C	8: 36,584,645 (GRCm38)	H644R	probably benign	Het
Ecm2	A	T	13: 49,531,345 (GRCm38)	I643F	probably damaging	Het
Eogt	A	T	6: 97,120,147 (GRCm38)		probably benign	Het
Fbxo41	A	C	6: 85,475,194 (GRCm38)	S777A	probably benign	Het
Fga	T	A	3: 83,028,644 (GRCm38)	D59E	probably benign	Het
Flt3	A	T	5: 147,334,440 (GRCm38)	V897D	probably damaging	Het
Fmn1	G	T	2: 113,584,120 (GRCm38)		probably null	Het
Frem3	T	C	8: 80,613,283 (GRCm38)	L735P	probably damaging	Het
Ftmt	A	T	18: 52,332,053 (GRCm38)	D147V	possibly damaging	Het
Gabpa	T	A	16: 84,857,468 (GRCm38)	D344E	probably benign	Het
Gm4788	A	T	1: 139,774,475 (GRCm38)		probably null	Het
Gtf3a	C	T	5: 146,951,913 (GRCm38)	Q145*	probably null	Het
Il1f5	A	T	2: 24,280,835 (GRCm38)	N48I	probably damaging	Het
Iqca	A	G	1: 90,089,504 (GRCm38)	L403S	probably benign	Het
Jrk	C	T	15: 74,707,220 (GRCm38)	R72Q	probably benign	Het
Kif19a	G	A	11: 114,767,227 (GRCm38)	M37I	probably benign	Het
Krt12	T	C	11: 99,416,963 (GRCm38)	D433G	possibly damaging	Het
Lce1h	A	T	3: 92,763,463 (GRCm38)	S127R	unknown	Het
Lrrc7	T	G	3: 158,161,005 (GRCm38)	Y1033S	probably damaging	Het
Macf1	A	G	4: 123,472,200 (GRCm38)	S1358P	probably damaging	Het
Mfsd1	T	A	3: 67,587,987 (GRCm38)		probably null	Het
Mki67	T	C	7: 135,699,856 (GRCm38)	T1150A	probably damaging	Het
Nadk2	A	G	15: 9,098,857 (GRCm38)	I291M	possibly damaging	Het
Olfr309	T	C	7: 86,306,283 (GRCm38)	T277A	probably benign	Het
Olfr340	A	C	2: 36,453,199 (GRCm38)	M205L	probably benign	Het
Olfr456	A	G	6: 42,487,097 (GRCm38)	V32A	probably benign	Het
Olfr49	T	A	14: 54,282,629 (GRCm38)	T89S	probably benign	Het
Olfr829	A	T	9: 18,857,566 (GRCm38)	I305F	probably benign	Het
Parp14	T	A	16: 35,857,327 (GRCm38)	Y757F	probably benign	Het
Pcdh18	T	C	3: 49,754,664 (GRCm38)	Y734C	probably damaging	Het
Pcnx4	T	C	12: 72,573,952 (GRCm38)	S849P	probably benign	Het
Pds5a	T	C	5: 65,644,120 (GRCm38)	K595E	probably damaging	Het
Prkg2	T	A	5: 99,024,709 (GRCm38)	Y49F	probably benign	Het
Ptgdr	G	T	14: 44,858,796 (GRCm38)	P153Q	probably damaging	Het
Rbm12b2	T	C	4: 12,094,805 (GRCm38)	S555P	probably damaging	Het
Rhog	T	G	7: 102,240,150 (GRCm38)	Y32S	probably damaging	Het
Rnf141	T	C	7: 110,816,768 (GRCm38)	T209A	probably damaging	Het
Rtkn2	T	C	10: 68,001,927 (GRCm38)	I103T	probably damaging	Het
Scn5a	G	T	9: 119,550,671 (GRCm38)	C182*	probably null	Het
Sema3a	A	G	5: 13,451,241 (GRCm38)	N84D	probably benign	Het
Sema5a	G	T	15: 32,550,290 (GRCm38)	M158I	possibly damaging	Het
Shprh	T	A	10: 11,164,557 (GRCm38)	D71E	probably benign	Het
Slc26a8	A	G	17: 28,663,634 (GRCm38)	I239T	probably benign	Het
Slco4c1	G	A	1: 96,841,228 (GRCm38)	P303L	probably damaging	Het
Ston1	C	T	17: 88,635,694 (GRCm38)	A176V	probably damaging	Het
Sult2a5	T	C	7: 13,624,051 (GRCm38)	S3P	probably benign	Het
Tango6	T	A	8: 106,818,526 (GRCm38)	V1007E	probably damaging	Het
Tank	G	A	2: 61,578,635 (GRCm38)		probably benign	Het
Tas2r124	A	G	6: 132,755,193 (GRCm38)	Y155C	probably damaging	Het
Tenm3	G	A	8: 48,235,821 (GRCm38)	R2244W	probably damaging	Het
Tlk1	A	T	2: 70,721,571 (GRCm38)	Y585*	probably null	Het
Tmem221	C	T	8: 71,555,140 (GRCm38)	E214K	probably benign	Het
Tmem38a	T	C	8: 72,581,233 (GRCm38)	V172A	possibly damaging	Het
Tspo2	C	T	17: 48,448,677 (GRCm38)	A146T	possibly damaging	Het
Ttc3	G	A	16: 94,454,515 (GRCm38)	A1268T	probably damaging	Het
Usp25	T	A	16: 77,050,467 (GRCm38)	D154E	probably damaging	Het
Usp34	T	C	11: 23,451,999 (GRCm38)	F2410L	probably benign	Het
Vmn1r128	T	A	7: 21,350,014 (GRCm38)	H214Q	possibly damaging	Het
Vmn1r24	A	C	6: 57,956,436 (GRCm38)	C32W	probably damaging	Het
Zfp931	T	A	2: 178,068,062 (GRCm38)	H177L	probably damaging	Het
Znrf1	T	C	8: 111,537,566 (GRCm38)		probably null	Het

Other mutations in Abca6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Abca6	APN	11	110,184,709 (GRCm38)	missense	probably damaging	1.00
IGL00569:Abca6	APN	11	110,187,049 (GRCm38)	missense	possibly damaging	0.88
IGL00737:Abca6	APN	11	110,196,997 (GRCm38)	splice site	probably benign
IGL01024:Abca6	APN	11	110,197,142 (GRCm38)	missense	probably benign
IGL01087:Abca6	APN	11	110,191,650 (GRCm38)	missense	probably benign	0.00
IGL01511:Abca6	APN	11	110,244,310 (GRCm38)	missense	probably benign	0.00
IGL01516:Abca6	APN	11	110,218,217 (GRCm38)	missense	possibly damaging	0.70
IGL01621:Abca6	APN	11	110,184,708 (GRCm38)	missense	probably damaging	1.00
IGL01749:Abca6	APN	11	110,244,224 (GRCm38)	missense	probably damaging	1.00
IGL01934:Abca6	APN	11	110,188,655 (GRCm38)	missense	probably benign	0.00
IGL02010:Abca6	APN	11	110,219,616 (GRCm38)	missense	probably benign	0.12
IGL02121:Abca6	APN	11	110,182,924 (GRCm38)	missense	probably benign	0.38
IGL02423:Abca6	APN	11	110,219,006 (GRCm38)	splice site	probably benign
IGL02428:Abca6	APN	11	110,178,792 (GRCm38)	missense	possibly damaging	0.81
IGL02491:Abca6	APN	11	110,176,968 (GRCm38)	utr 3 prime	probably benign
IGL02541:Abca6	APN	11	110,212,267 (GRCm38)	missense	probably damaging	1.00
IGL02792:Abca6	APN	11	110,188,681 (GRCm38)	missense	probably damaging	0.99
IGL02836:Abca6	APN	11	110,248,548 (GRCm38)	missense	probably damaging	1.00
IGL02965:Abca6	APN	11	110,180,613 (GRCm38)	missense	probably benign
IGL03094:Abca6	APN	11	110,184,112 (GRCm38)	missense	probably benign	0.03
IGL03109:Abca6	APN	11	110,180,347 (GRCm38)	missense	probably damaging	0.96
R0068:Abca6	UTSW	11	110,182,882 (GRCm38)	missense	probably damaging	1.00
R0142:Abca6	UTSW	11	110,188,641 (GRCm38)	missense	probably damaging	1.00
R0165:Abca6	UTSW	11	110,219,604 (GRCm38)	missense	possibly damaging	0.90
R0254:Abca6	UTSW	11	110,236,789 (GRCm38)	missense	probably benign	0.16
R0598:Abca6	UTSW	11	110,197,154 (GRCm38)	missense	probably damaging	1.00
R0992:Abca6	UTSW	11	110,211,684 (GRCm38)	missense	probably damaging	1.00
R1386:Abca6	UTSW	11	110,244,255 (GRCm38)	missense	probably benign	0.02
R1642:Abca6	UTSW	11	110,218,281 (GRCm38)	missense	possibly damaging	0.73
R1673:Abca6	UTSW	11	110,212,339 (GRCm38)	missense	probably benign	0.01
R1792:Abca6	UTSW	11	110,184,044 (GRCm38)	missense	probably benign	0.00
R1813:Abca6	UTSW	11	110,233,845 (GRCm38)	splice site	probably benign
R1817:Abca6	UTSW	11	110,219,318 (GRCm38)	missense	probably benign	0.00
R1842:Abca6	UTSW	11	110,197,039 (GRCm38)	missense	probably benign	0.00
R1898:Abca6	UTSW	11	110,208,799 (GRCm38)	missense	probably damaging	0.99
R1914:Abca6	UTSW	11	110,212,210 (GRCm38)	missense	probably benign	0.06
R1915:Abca6	UTSW	11	110,212,210 (GRCm38)	missense	probably benign	0.06
R1934:Abca6	UTSW	11	110,210,083 (GRCm38)	critical splice donor site	probably null
R1964:Abca6	UTSW	11	110,184,676 (GRCm38)	missense	probably damaging	0.98
R1967:Abca6	UTSW	11	110,187,148 (GRCm38)	missense	probably benign	0.09
R2127:Abca6	UTSW	11	110,219,649 (GRCm38)	missense	probably benign	0.00
R2128:Abca6	UTSW	11	110,219,649 (GRCm38)	missense	probably benign	0.00
R2164:Abca6	UTSW	11	110,210,193 (GRCm38)	frame shift	probably null
R2895:Abca6	UTSW	11	110,202,426 (GRCm38)	missense	probably benign	0.00
R3110:Abca6	UTSW	11	110,178,829 (GRCm38)	nonsense	probably null
R3111:Abca6	UTSW	11	110,178,829 (GRCm38)	nonsense	probably null
R3112:Abca6	UTSW	11	110,178,829 (GRCm38)	nonsense	probably null
R4094:Abca6	UTSW	11	110,180,366 (GRCm38)	missense	probably damaging	1.00
R4432:Abca6	UTSW	11	110,241,588 (GRCm38)	missense	probably benign	0.11
R4474:Abca6	UTSW	11	110,233,772 (GRCm38)	missense	possibly damaging	0.46
R4572:Abca6	UTSW	11	110,216,548 (GRCm38)	missense	probably benign	0.31
R4629:Abca6	UTSW	11	110,230,549 (GRCm38)	critical splice acceptor site	probably null
R4793:Abca6	UTSW	11	110,191,718 (GRCm38)	missense	probably benign
R4852:Abca6	UTSW	11	110,244,203 (GRCm38)	missense	probably benign	0.09
R4879:Abca6	UTSW	11	110,219,700 (GRCm38)	missense	probably damaging	0.98
R4918:Abca6	UTSW	11	110,180,551 (GRCm38)	missense	probably damaging	1.00
R5060:Abca6	UTSW	11	110,219,604 (GRCm38)	missense	possibly damaging	0.90
R5062:Abca6	UTSW	11	110,177,066 (GRCm38)	missense	probably benign	0.12
R5083:Abca6	UTSW	11	110,218,967 (GRCm38)	missense	probably damaging	1.00
R5173:Abca6	UTSW	11	110,191,720 (GRCm38)	missense	probably benign
R5393:Abca6	UTSW	11	110,244,295 (GRCm38)	missense	probably benign	0.00
R5484:Abca6	UTSW	11	110,184,073 (GRCm38)	missense	probably damaging	1.00
R5498:Abca6	UTSW	11	110,208,844 (GRCm38)	missense	possibly damaging	0.95
R5503:Abca6	UTSW	11	110,218,257 (GRCm38)	missense	probably damaging	1.00
R5645:Abca6	UTSW	11	110,250,408 (GRCm38)	missense	probably damaging	0.99
R5680:Abca6	UTSW	11	110,236,645 (GRCm38)	missense	possibly damaging	0.88
R5761:Abca6	UTSW	11	110,210,101 (GRCm38)	missense	probably damaging	1.00
R5779:Abca6	UTSW	11	110,184,670 (GRCm38)	missense	probably benign	0.37
R5818:Abca6	UTSW	11	110,219,643 (GRCm38)	missense	probably damaging	1.00
R6282:Abca6	UTSW	11	110,208,824 (GRCm38)	missense	probably damaging	0.98
R6455:Abca6	UTSW	11	110,241,581 (GRCm38)	missense	probably damaging	1.00
R6826:Abca6	UTSW	11	110,216,605 (GRCm38)	missense	probably benign	0.15
R6857:Abca6	UTSW	11	110,219,688 (GRCm38)	missense	possibly damaging	0.63
R6914:Abca6	UTSW	11	110,190,238 (GRCm38)	missense	probably benign
R6931:Abca6	UTSW	11	110,244,328 (GRCm38)	missense	probably benign	0.27
R7222:Abca6	UTSW	11	110,191,693 (GRCm38)	missense	probably benign	0.29
R7242:Abca6	UTSW	11	110,241,653 (GRCm38)	missense	possibly damaging	0.47
R7297:Abca6	UTSW	11	110,183,026 (GRCm38)	critical splice donor site	probably null
R7387:Abca6	UTSW	11	110,202,420 (GRCm38)	missense	probably benign
R7420:Abca6	UTSW	11	110,250,477 (GRCm38)	missense	probably benign	0.24
R7494:Abca6	UTSW	11	110,208,745 (GRCm38)	missense	possibly damaging	0.93
R7603:Abca6	UTSW	11	110,180,258 (GRCm38)	missense	possibly damaging	0.69
R7637:Abca6	UTSW	11	110,218,952 (GRCm38)	missense	probably benign	0.00
R7674:Abca6	UTSW	11	110,219,297 (GRCm38)	missense	probably damaging	1.00
R7753:Abca6	UTSW	11	110,184,107 (GRCm38)	missense	probably damaging	1.00
R7800:Abca6	UTSW	11	110,187,872 (GRCm38)	missense	probably benign	0.00
R7842:Abca6	UTSW	11	110,196,697 (GRCm38)	missense	possibly damaging	0.76
R7855:Abca6	UTSW	11	110,191,628 (GRCm38)	missense	probably benign	0.01
R8119:Abca6	UTSW	11	110,197,104 (GRCm38)	missense	probably benign	0.00
R8139:Abca6	UTSW	11	110,184,133 (GRCm38)	missense	probably damaging	1.00
R8176:Abca6	UTSW	11	110,244,194 (GRCm38)	missense	probably benign	0.01
R8179:Abca6	UTSW	11	110,245,274 (GRCm38)	missense	probably damaging	1.00
R8197:Abca6	UTSW	11	110,211,815 (GRCm38)	missense	probably damaging	0.99
R8241:Abca6	UTSW	11	110,188,630 (GRCm38)	missense	probably null	1.00
R8404:Abca6	UTSW	11	110,219,319 (GRCm38)	missense	probably damaging	0.99
R8429:Abca6	UTSW	11	110,202,382 (GRCm38)	missense	probably benign
R8502:Abca6	UTSW	11	110,219,319 (GRCm38)	missense	probably damaging	0.99
R8816:Abca6	UTSW	11	110,236,687 (GRCm38)	missense	probably benign	0.04
R8964:Abca6	UTSW	11	110,248,537 (GRCm38)	missense	probably benign	0.00
R9153:Abca6	UTSW	11	110,216,655 (GRCm38)	missense	possibly damaging	0.61
R9233:Abca6	UTSW	11	110,191,670 (GRCm38)	missense	probably benign	0.31
R9407:Abca6	UTSW	11	110,202,384 (GRCm38)	nonsense	probably null
R9412:Abca6	UTSW	11	110,212,233 (GRCm38)	missense	probably damaging	0.99
R9453:Abca6	UTSW	11	110,247,264 (GRCm38)	critical splice donor site	probably null
R9533:Abca6	UTSW	11	110,211,756 (GRCm38)	missense	probably benign	0.16
R9546:Abca6	UTSW	11	110,244,216 (GRCm38)	nonsense	probably null
R9650:Abca6	UTSW	11	110,180,620 (GRCm38)	missense	probably benign	0.32
R9702:Abca6	UTSW	11	110,216,552 (GRCm38)	missense	probably damaging	1.00
R9709:Abca6	UTSW	11	110,211,763 (GRCm38)	missense	probably benign	0.01
X0024:Abca6	UTSW	11	110,244,255 (GRCm38)	missense	probably benign	0.02
X0064:Abca6	UTSW	11	110,197,142 (GRCm38)	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