Mutagenetix > Incidental Mutation

Incidental Mutation 'R6826:Abca6'

534178

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

045019-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6826 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110176820-110251776 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110216605 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 728 (N728S)

Ref Sequence

ENSEMBL: ENSMUSP00000035458 (fasta)

Gene Model

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

AlphaFold

Q8K441

Predicted Effect

probably benign
Transcript: ENSMUST00000044003
AA Change: N728S

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000035458
Gene: ENSMUSG00000044749
AA Change: N728S

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: 99.6%
20x: 98.6%

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
Acaca	T	C	11: 84,195,536 (GRCm38)	S63P	probably damaging	Het
Akr1c12	A	G	13: 4,275,734 (GRCm38)	V120A	probably benign	Het
Ap4b1	G	A	3: 103,812,908 (GRCm38)		probably null	Het
Apol7e	T	A	15: 77,718,291 (GRCm38)	V363D	probably damaging	Het
Bmpr1b	A	T	3: 141,857,406 (GRCm38)	L259Q	probably damaging	Het
Clca3a2	T	C	3: 144,818,054 (GRCm38)	T57A	possibly damaging	Het
Copb1	T	C	7: 114,226,719 (GRCm38)	T677A	probably benign	Het
Crhr2	T	C	6: 55,117,740 (GRCm38)		probably benign	Het
Cyp11a1	A	G	9: 58,025,087 (GRCm38)	T228A	probably damaging	Het
Dnah1	T	C	14: 31,286,290 (GRCm38)	I2084V	probably benign	Het
Dnajc17	T	C	2: 119,180,927 (GRCm38)	K174R	probably damaging	Het
Dnm2	T	A	9: 21,504,471 (GRCm38)	Y646*	probably null	Het
Dock9	G	A	14: 121,622,918 (GRCm38)	P866L	probably damaging	Het
Elmo3	A	T	8: 105,306,746 (GRCm38)	I115F	probably damaging	Het
Elmod1	T	C	9: 53,919,599 (GRCm38)	T268A	probably benign	Het
F10	T	C	8: 13,046,165 (GRCm38)		probably null	Het
Fmo4	C	T	1: 162,803,769 (GRCm38)	V210M	probably damaging	Het
Foxred2	G	T	15: 77,947,085 (GRCm38)	H509Q	probably benign	Het
Gm28710	A	G	5: 16,808,294 (GRCm38)	I219V	unknown	Het
Hyal6	A	G	6: 24,734,372 (GRCm38)	I101M	probably damaging	Het
Igkv5-48	T	C	6: 69,726,600 (GRCm38)	Y107C	probably damaging	Het
Jag1	A	G	2: 137,116,175 (GRCm38)		probably null	Het
Leng8	T	A	7: 4,145,320 (GRCm38)	V697E	probably damaging	Het
Mdga1	T	C	17: 29,970,026 (GRCm38)	N21S	unknown	Het
Midn	T	A	10: 80,154,127 (GRCm38)	C126*	probably null	Het
Mlh3	A	T	12: 85,245,824 (GRCm38)	V1303E	probably benign	Het
Myh4	T	C	11: 67,246,531 (GRCm38)	L526P	probably damaging	Het
Olfr1117-ps1	G	A	2: 87,284,328 (GRCm38)	E13K	probably benign	Het
Olfr1469	T	A	19: 13,411,088 (GRCm38)	V173E	probably benign	Het
Pde6b	C	T	5: 108,430,592 (GRCm38)	R799*	probably null	Het
Pde9a	A	G	17: 31,466,440 (GRCm38)	D382G	probably benign	Het
Pdrg1	A	C	2: 153,010,256 (GRCm38)		probably null	Het
Peg10	C	CATCAGGATG	6: 4,756,353 (GRCm38)		probably benign	Het
Ppp1r3a	C	A	6: 14,718,981 (GRCm38)	E645*	probably null	Het
Prrc2b	A	G	2: 32,222,288 (GRCm38)		probably null	Het
Ptprb	T	A	10: 116,317,372 (GRCm38)	M578K	probably benign	Het
Rasgrp3	G	T	17: 75,503,246 (GRCm38)	V314F	probably damaging	Het
Rps9	C	A	7: 3,705,776 (GRCm38)	D84E	probably benign	Het
Sdf2l1	C	G	16: 17,132,294 (GRCm38)	R6P	probably benign	Het
Serpina1e	A	G	12: 103,949,138 (GRCm38)	F270L	probably benign	Het
Slc24a5	G	A	2: 125,068,858 (GRCm38)	V70I	probably benign	Het
Slfn14	C	A	11: 83,281,818 (GRCm38)		probably null	Het
Smcr8	G	T	11: 60,778,862 (GRCm38)	D279Y	possibly damaging	Het
Snx16	A	T	3: 10,438,088 (GRCm38)	V33D	probably damaging	Het
Tesc	A	G	5: 118,056,418 (GRCm38)	T131A	probably damaging	Het
Tnfaip8l3	G	T	9: 54,027,499 (GRCm38)	T64K	possibly damaging	Het
Vmn2r1	T	A	3: 64,105,146 (GRCm38)	Y809*	probably null	Het
Vmn2r25	A	G	6: 123,823,112 (GRCm38)	V757A	probably damaging	Het
Vmn2r3	A	T	3: 64,274,906 (GRCm38)	Y457*	probably null	Het
Wee1	T	C	7: 110,124,663 (GRCm38)		probably null	Het
Wfdc3	C	T	2: 164,734,258 (GRCm38)	G38R	possibly damaging	Het
Zfp541	A	G	7: 16,078,982 (GRCm38)	E520G	probably damaging	Het
Zfp579	G	T	7: 4,994,426 (GRCm38)	A162D	probably benign	Het
Zfp811	A	G	17: 32,797,788 (GRCm38)	F425S	probably damaging	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
R4867:Abca6	UTSW	11	110,202,379 (GRCm38)	missense	probably benign	0.01
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
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'- CCCTGCTATTGATTGCACTGAC -3'
(R):5'- GAAGATTTTCAAGCTGCTGGATTAC -3'

Sequencing Primer
(F):5'- TGATTGCACTGACTAAGTAACACC -3'
(R):5'- ACCCATTTTGCTTGTTTCATAAAGC -3'

Posted On

2018-09-12