Mutagenetix > Incidental Mutation

Incidental Mutation 'R5645:Abca6'

441087

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

043293-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5645 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110176820-110251776 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110250408 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 29 (E29G)

Ref Sequence

ENSEMBL: ENSMUSP00000035458 (fasta)

Gene Model

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

AlphaFold

Q8K441

Predicted Effect

probably damaging
Transcript: ENSMUST00000044003
AA Change: E29G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000035458
Gene: ENSMUSG00000044749
AA Change: E29G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150988

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	G	9: 108,397,204 (GRCm38)	I169V	probably damaging	Het
2310007B03Rik	T	C	1: 93,152,946 (GRCm38)	T413A	probably damaging	Het
4930503B20Rik	C	T	3: 146,650,509 (GRCm38)	E215K	probably damaging	Het
5830411N06Rik	G	A	7: 140,248,940 (GRCm38)	V171I	possibly damaging	Het
Acsm1	A	G	7: 119,640,697 (GRCm38)	H288R	probably damaging	Het
Adamts12	A	G	15: 11,277,420 (GRCm38)	T707A	possibly damaging	Het
Adcy2	C	A	13: 68,729,202 (GRCm38)		probably null	Het
Agbl4	A	T	4: 111,657,330 (GRCm38)	I513F	possibly damaging	Het
Ak5	A	T	3: 152,656,033 (GRCm38)	M84K	possibly damaging	Het
Akap1	T	C	11: 88,845,627 (GRCm38)	T103A	probably benign	Het
Akap9	A	G	5: 4,050,590 (GRCm38)	T2751A	probably benign	Het
Amer3	A	T	1: 34,588,381 (GRCm38)	H567L	possibly damaging	Het
Ano6	A	G	15: 95,920,351 (GRCm38)	Y325C	probably benign	Het
Apba2	A	G	7: 64,695,806 (GRCm38)	E248G	possibly damaging	Het
Asap2	T	A	12: 21,265,982 (GRCm38)	V967E	probably damaging	Het
Boc	A	G	16: 44,499,661 (GRCm38)	V320A	probably damaging	Het
Car13	T	A	3: 14,645,120 (GRCm38)	Y41N	possibly damaging	Het
Ccdc162	T	C	10: 41,552,356 (GRCm38)	T1976A	probably benign	Het
Cep295	C	A	9: 15,335,108 (GRCm38)	S684I	possibly damaging	Het
Cep295	A	T	9: 15,332,794 (GRCm38)	H1455Q	probably damaging	Het
Cr2	G	T	1: 195,154,273 (GRCm38)	H861N	probably damaging	Het
Cul5	T	C	9: 53,622,943 (GRCm38)	I630V	probably benign	Het
Cyp2c37	G	A	19: 39,994,152 (GRCm38)	V145I	probably benign	Het
Dnmt1	G	A	9: 20,922,147 (GRCm38)	T500M	probably damaging	Het
Fam161a	T	A	11: 23,015,725 (GRCm38)	I6N	probably damaging	Het
Fam214a	T	A	9: 75,025,679 (GRCm38)	V976E	probably damaging	Het
Fry	T	C	5: 150,380,867 (GRCm38)	V574A	probably damaging	Het
Glb1l3	G	T	9: 26,824,826 (GRCm38)	L553I	probably benign	Het
Gm1123	T	C	9: 99,014,191 (GRCm38)	D212G	probably benign	Het
Grin2a	T	A	16: 9,992,226 (GRCm38)	D103V	probably damaging	Het
Heg1	A	G	16: 33,706,963 (GRCm38)	I98V	probably benign	Het
Hmcn2	C	A	2: 31,420,812 (GRCm38)	T3356N	possibly damaging	Het
Hpf1	T	G	8: 60,896,800 (GRCm38)	I154S	possibly damaging	Het
Ifnar2	A	G	16: 91,404,227 (GRCm38)	D452G	possibly damaging	Het
Ikbkap	T	C	4: 56,776,920 (GRCm38)	T626A	possibly damaging	Het
Iqcc	A	T	4: 129,616,527 (GRCm38)	H398Q	possibly damaging	Het
Iqgap3	T	C	3: 88,117,699 (GRCm38)	I669T	probably damaging	Het
Itgae	A	G	11: 73,129,248 (GRCm38)	T859A	probably damaging	Het
Kansl1l	T	C	1: 66,801,344 (GRCm38)	M266V	probably benign	Het
Kbtbd3	A	G	9: 4,331,426 (GRCm38)	D600G	possibly damaging	Het
Klf13	G	A	7: 63,891,600 (GRCm38)		probably benign	Het
Kmt2d	A	G	15: 98,844,397 (GRCm38)		probably benign	Het
Lama1	A	G	17: 67,802,948 (GRCm38)	D2188G	probably damaging	Het
Leng8	A	G	7: 4,145,274 (GRCm38)	T682A	probably damaging	Het
Mslnl	G	T	17: 25,737,842 (GRCm38)	G34V	possibly damaging	Het
Mycbp2	C	A	14: 103,188,615 (GRCm38)		probably null	Het
Mycbp2	A	T	14: 103,188,608 (GRCm38)	S2360R	probably damaging	Het
Nkx2-2	T	C	2: 147,184,399 (GRCm38)	T140A	probably damaging	Het
Olfr1233	A	T	2: 89,339,705 (GRCm38)	V199E	possibly damaging	Het
Olfr745	T	C	14: 50,643,067 (GRCm38)	V262A	probably benign	Het
Oser1	C	T	2: 163,407,045 (GRCm38)	R79H	probably damaging	Het
Pfas	A	G	11: 68,991,132 (GRCm38)	V909A	probably damaging	Het
Pkhd1l1	A	G	15: 44,532,992 (GRCm38)	E1970G	probably benign	Het
Prph2	G	T	17: 46,910,667 (GRCm38)		probably benign	Het
Rusc2	G	T	4: 43,425,758 (GRCm38)	A1288S	probably benign	Het
Sdha	A	G	13: 74,323,839 (GRCm38)		probably null	Het
Sec16a	T	G	2: 26,439,895 (GRCm38)	T703P	probably benign	Het
Senp7	T	A	16: 56,173,208 (GRCm38)	N724K	possibly damaging	Het
Skint1	A	G	4: 112,025,502 (GRCm38)	I248V	probably benign	Het
Slc9a5	T	C	8: 105,357,013 (GRCm38)	V395A	probably benign	Het
Slco1a4	T	C	6: 141,834,659 (GRCm38)	N135S	possibly damaging	Het
Sncaip	A	G	18: 52,894,956 (GRCm38)	I412M	probably damaging	Het
Tacc2	A	T	7: 130,624,051 (GRCm38)	D841V	possibly damaging	Het
Tekt1	A	T	11: 72,351,837 (GRCm38)	H281Q	probably benign	Het
Tex46	G	T	4: 136,612,917 (GRCm38)	M104I	probably benign	Het
Tjp3	T	C	10: 81,278,620 (GRCm38)		probably null	Het
Treh	A	G	9: 44,682,678 (GRCm38)	Y154C	probably damaging	Het
Trim80	T	A	11: 115,446,785 (GRCm38)	L428Q	probably damaging	Het
Trpm6	A	G	19: 18,853,604 (GRCm38)	K1278E	probably damaging	Het
Usp34	T	C	11: 23,375,024 (GRCm38)	M990T	possibly damaging	Het
Vps9d1	A	G	8: 123,247,748 (GRCm38)	S267P	probably benign	Het
Ywhae	T	C	11: 75,756,924 (GRCm38)	M160T	probably benign	Het
Zcchc11	G	A	4: 108,557,373 (GRCm38)	R49H	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
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'- TCACAGACCGTTATGAGTTTCTC -3'
(R):5'- CTCCACATAGCTTAAAGAGAATGC -3'

Sequencing Primer
(F):5'- GACCGTTATGAGTTTCTCAATCAAAC -3'
(R):5'- TAGCTTAAAGAGAATGCATTTGAGG -3'

Posted On

2016-11-08