Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01511:Abca6'

89234

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abca6

Ensembl Gene

ENSMUSG00000044749

Gene Name

ATP-binding cassette, sub-family A (ABC1), member 6

Synonyms

6330565N06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01511

Quality Score

Status

Chromosome

Chromosomal Location

110176820-110251776 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110244310 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 216 (D216E)

Ref Sequence

ENSEMBL: ENSMUSP00000035458 (fasta)

Gene Model

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

AlphaFold

Q8K441

Predicted Effect

probably benign
Transcript: ENSMUST00000044003
AA Change: D216E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000035458
Gene: ENSMUSG00000044749
AA Change: D216E

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

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	C	A	14: 118,599,341 (GRCm38)	L669F	probably benign	Het
Adam29	C	T	8: 55,871,421 (GRCm38)	G666D	probably damaging	Het
Adat2	T	G	10: 13,560,238 (GRCm38)	M109R	probably null	Het
Atf3	T	A	1: 191,171,496 (GRCm38)	T178S	probably benign	Het
Birc6	T	A	17: 74,627,003 (GRCm38)	Y2522*	probably null	Het
Ccr8	G	A	9: 120,094,625 (GRCm38)	G269R	probably damaging	Het
Ces1a	G	T	8: 93,045,098 (GRCm38)	P24T	probably damaging	Het
Chrna4	C	T	2: 181,028,668 (GRCm38)	V432I	probably benign	Het
Commd8	A	G	5: 72,165,379 (GRCm38)	V65A	probably benign	Het
Cyp2j13	A	G	4: 96,077,315 (GRCm38)	F52L	possibly damaging	Het
Desi1	T	A	15: 82,002,588 (GRCm38)	K45*	probably null	Het
Dmbt1	T	A	7: 131,116,728 (GRCm38)	M1552K	possibly damaging	Het
Dna2	G	A	10: 62,955,314 (GRCm38)	M197I	possibly damaging	Het
Dnah7a	A	C	1: 53,419,595 (GRCm38)	L3795V	probably damaging	Het
Fam221b	T	C	4: 43,660,135 (GRCm38)		probably null	Het
Fbxw18	A	T	9: 109,688,821 (GRCm38)	S366T	possibly damaging	Het
Fzd8	A	G	18: 9,213,293 (GRCm38)	Y125C	unknown	Het
Gcsam	T	C	16: 45,615,952 (GRCm38)	Y11H	probably damaging	Het
Gucy2f	G	T	X: 142,161,734 (GRCm38)	D410E	probably damaging	Het
Hdac3	C	T	18: 37,952,595 (GRCm38)	A53T	probably benign	Het
Lamp2	A	G	X: 38,431,875 (GRCm38)	L244P	probably damaging	Het
Lrrk1	A	T	7: 66,265,450 (GRCm38)	F1630Y	possibly damaging	Het
M1ap	C	A	6: 83,028,412 (GRCm38)	D434E	probably benign	Het
Mcmbp	A	G	7: 128,707,164 (GRCm38)	Y378H	probably damaging	Het
Mvb12a	T	A	8: 71,545,302 (GRCm38)	V120E	probably damaging	Het
Nbeal2	A	C	9: 110,629,234 (GRCm38)	W2063G	probably damaging	Het
Neto1	A	C	18: 86,395,908 (GRCm38)	H9P	possibly damaging	Het
Nmu	C	T	5: 76,340,821 (GRCm38)	V126M	probably damaging	Het
Odf2	T	C	2: 29,914,309 (GRCm38)		probably benign	Het
Olfr1387	A	G	11: 49,460,216 (GRCm38)	E179G	probably damaging	Het
Pdzrn3	T	C	6: 101,153,256 (GRCm38)	H533R	possibly damaging	Het
Pikfyve	G	T	1: 65,258,869 (GRCm38)	E1586*	probably null	Het
Plcb3	C	A	19: 6,955,843 (GRCm38)	R970L	probably damaging	Het
Plxna3	A	G	X: 74,335,308 (GRCm38)	E686G	probably damaging	Het
Polrmt	T	A	10: 79,740,151 (GRCm38)	Y586F	probably benign	Het
Ppt1	T	A	4: 122,854,425 (GRCm38)	F225I	probably damaging	Het
Prcc	T	G	3: 87,872,241 (GRCm38)	D162A	probably damaging	Het
Ripor1	T	C	8: 105,619,930 (GRCm38)		probably benign	Het
Rnaseh1	A	G	12: 28,659,009 (GRCm38)	H263R	probably damaging	Het
Rnf19b	T	A	4: 129,080,418 (GRCm38)	S490R	probably damaging	Het
Slc15a2	T	A	16: 36,784,726 (GRCm38)	T23S	probably damaging	Het
Slc17a2	T	C	13: 23,819,138 (GRCm38)		probably null	Het
Slc35f4	T	C	14: 49,298,877 (GRCm38)	M434V	probably benign	Het
Slc52a3	C	T	2: 152,004,644 (GRCm38)	T175I	probably benign	Het
Slc5a2	C	T	7: 128,270,622 (GRCm38)	T409M	probably benign	Het
Tbc1d24	A	G	17: 24,181,918 (GRCm38)	S108P	probably benign	Het
Thnsl2	T	G	6: 71,139,793 (GRCm38)	Q125P	probably benign	Het
Ttc13	T	C	8: 124,676,371 (GRCm38)	D672G	probably damaging	Het
Ttn	G	T	2: 76,753,745 (GRCm38)	H14013N	possibly damaging	Het
Unc5a	T	C	13: 55,004,816 (GRCm38)	F792L	probably damaging	Het
Vac14	T	C	8: 110,712,798 (GRCm38)	V669A	possibly damaging	Het
Vmn1r13	A	T	6: 57,210,329 (GRCm38)	M158L	probably benign	Het
Vmn1r220	A	T	13: 23,184,214 (GRCm38)	V104D	probably damaging	Het
Wdr78	T	C	4: 103,048,361 (GRCm38)	D741G	possibly damaging	Het
Zfp738	A	T	13: 67,683,401 (GRCm38)		probably null	Het
Zscan5b	A	C	7: 6,231,422 (GRCm38)	H149P	probably benign	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
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
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

Posted On

2013-12-03