Mutagenetix > Incidental Mutation

Incidental Mutation 'R8139:Abca6'

632431

Institutional Source

Beutler Lab

Gene Symbol

Abca6

Ensembl Gene

ENSMUSG00000044749

Gene Name

ATP-binding cassette, sub-family A member 6

Synonyms

6330565N06Rik

MMRRC Submission

067567-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8139 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110067646-110142602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110074959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 1368 (Q1368L)

Ref Sequence

ENSEMBL: ENSMUSP00000035458 (fasta)

Gene Model

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

AlphaFold

Q8K441

Predicted Effect

probably damaging
Transcript: ENSMUST00000044003
AA Change: Q1368L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035458
Gene: ENSMUSG00000044749
AA Change: Q1368L

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: 99.8%
3x: 99.6%
10x: 98.6%
20x: 94.2%

Validation Efficiency

100% (84/84)

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
4930567H17Rik	G	T	X: 69,438,120 (GRCm39)	Q58K	possibly damaging	Het
Aamdc	T	C	7: 97,214,450 (GRCm39)	M42V	probably benign	Het
Best3	G	A	10: 116,840,331 (GRCm39)	G254R	probably damaging	Het
Cacna1h	A	T	17: 25,602,697 (GRCm39)	I1478N	probably damaging	Het
Ccdc113	T	A	8: 96,285,366 (GRCm39)	M350K	possibly damaging	Het
Cdc42bpa	A	T	1: 179,896,884 (GRCm39)	H389L	probably damaging	Het
Cnn3	G	T	3: 121,248,718 (GRCm39)	M208I	probably damaging	Het
Col11a1	A	G	3: 113,890,698 (GRCm39)	D345G	unknown	Het
Degs1l	A	G	1: 180,882,358 (GRCm39)	D40G	probably damaging	Het
Dnah14	G	T	1: 181,582,853 (GRCm39)	V3131F	probably damaging	Het
Dst	T	A	1: 34,230,933 (GRCm39)	M2842K	probably benign	Het
Dus3l	C	T	17: 57,074,058 (GRCm39)	Q211*	probably null	Het
Eftud2	A	G	11: 102,758,685 (GRCm39)	F171S	probably benign	Het
Elac2	T	C	11: 64,871,440 (GRCm39)	I117T	probably benign	Het
Fam13b	A	G	18: 34,606,686 (GRCm39)	C302R	possibly damaging	Het
Fbxl5	G	A	5: 43,916,087 (GRCm39)	Q442*	probably null	Het
Fhdc1	A	G	3: 84,358,790 (GRCm39)	S370P	probably damaging	Het
Gtf3c6	T	C	10: 40,133,469 (GRCm39)		probably null	Het
I830077J02Rik	A	G	3: 105,835,314 (GRCm39)	V21A	probably benign	Het
Inf2	G	T	12: 112,568,074 (GRCm39)	E209*	probably null	Het
Irag1	A	G	7: 110,498,879 (GRCm39)		probably null	Het
Irs1	A	T	1: 82,267,460 (GRCm39)	M252K	probably damaging	Het
Kcng3	C	A	17: 83,938,516 (GRCm39)	V178L	probably damaging	Het
Kif16b	A	C	2: 142,743,285 (GRCm39)	S3A	probably benign	Het
Kit	T	C	5: 75,813,465 (GRCm39)	M884T	probably damaging	Het
Kmt2a	A	T	9: 44,730,587 (GRCm39)		probably benign	Het
Kptn	T	C	7: 15,857,901 (GRCm39)	I243T	probably benign	Het
Loxhd1	G	A	18: 77,468,192 (GRCm39)	E947K	possibly damaging	Het
Lyl1	A	T	8: 85,429,476 (GRCm39)	I62L	probably damaging	Het
Mmp24	C	T	2: 155,655,965 (GRCm39)	R468*	probably null	Het
Mtx2	G	A	2: 74,706,714 (GRCm39)	D230N	probably benign	Het
Ndufa5	A	T	6: 24,522,757 (GRCm39)	Y28*	probably null	Het
Notch4	G	T	17: 34,803,774 (GRCm39)	E1515*	probably null	Het
Nrxn3	A	G	12: 90,171,438 (GRCm39)	N923S	probably benign	Het
Ogfod2	C	T	5: 124,251,538 (GRCm39)	T116M	possibly damaging	Het
Oosp1	T	C	19: 11,645,118 (GRCm39)	E182G	possibly damaging	Het
Or4c115	A	G	2: 88,928,187 (GRCm39)	V28A	probably benign	Het
Or5p67	T	A	7: 107,922,113 (GRCm39)	T257S	probably benign	Het
Or7g20	A	T	9: 18,946,871 (GRCm39)	I151F	probably benign	Het
Or7g28	A	C	9: 19,272,504 (GRCm39)	V49G	probably damaging	Het
Oxnad1	C	A	14: 31,814,048 (GRCm39)	T47K	possibly damaging	Het
Pcdha5	A	G	18: 37,095,791 (GRCm39)	M767V	possibly damaging	Het
Pcnx3	A	T	19: 5,715,773 (GRCm39)	H1444Q	probably benign	Het
Pde4dip	G	T	3: 97,604,309 (GRCm39)	Q2224K	probably benign	Het
Pgr	A	T	9: 8,956,341 (GRCm39)	H763L	possibly damaging	Het
Plec	T	C	15: 76,058,510 (GRCm39)	D3809G	probably damaging	Het
Ppfia1	A	G	7: 144,074,430 (GRCm39)	S155P	probably damaging	Het
Ppfia4	A	G	1: 134,228,266 (GRCm39)	V1090A	probably benign	Het
Ptgdr	T	C	14: 45,096,142 (GRCm39)	E190G	probably benign	Het
Rhbdd2	T	A	5: 135,665,189 (GRCm39)	C173*	probably null	Het
Rhobtb1	C	A	10: 69,102,120 (GRCm39)	P134T	probably damaging	Het
Slc25a36	A	T	9: 96,962,505 (GRCm39)	F161L	probably benign	Het
Slc5a11	A	G	7: 122,869,199 (GRCm39)	T596A	probably benign	Het
Slco1a6	T	C	6: 142,035,626 (GRCm39)	Y566C	probably damaging	Het
Snx15	T	G	19: 6,169,945 (GRCm39)	K321T	probably damaging	Het
Snx15	T	C	19: 6,169,946 (GRCm39)	K321E	probably damaging	Het
Srebf2	C	T	15: 82,062,966 (GRCm39)	R468C	probably damaging	Het
Syt8	T	C	7: 141,992,005 (GRCm39)	I32T	probably benign	Het
Thumpd1	T	C	7: 119,319,808 (GRCm39)	N53D	possibly damaging	Het
Timm21	T	C	18: 84,969,263 (GRCm39)	T54A	probably benign	Het
Tmed10	A	G	12: 85,391,091 (GRCm39)	V149A	probably damaging	Het
Tmem108	T	A	9: 103,377,084 (GRCm39)	M122L	probably benign	Het
Tram1l1	A	G	3: 124,115,436 (GRCm39)	I199V	probably benign	Het
Tspan8	A	G	10: 115,675,802 (GRCm39)	N156S	probably benign	Het
Vamp9	A	G	5: 100,072,785 (GRCm39)	I111V	probably benign	Het
Vars1	T	C	17: 35,230,480 (GRCm39)	V521A	probably benign	Het
Vmn2r54	G	T	7: 12,349,743 (GRCm39)	T613N	possibly damaging	Het
Vps13b	T	A	15: 35,607,418 (GRCm39)	L1117*	probably null	Het
Vps33a	T	C	5: 123,672,015 (GRCm39)	K451R	probably benign	Het
Vsig10l	T	C	7: 43,113,153 (GRCm39)	I35T	probably benign	Het
Xpnpep3	T	A	15: 81,332,660 (GRCm39)	L399Q	probably damaging	Het
Zfp438	T	C	18: 5,214,013 (GRCm39)	E315G	probably benign	Het
Zfp467	C	T	6: 48,416,268 (GRCm39)	G128D	probably damaging	Het

Other mutations in Abca6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Abca6	APN	11	110,075,535 (GRCm39)	missense	probably damaging	1.00
IGL00569:Abca6	APN	11	110,077,875 (GRCm39)	missense	possibly damaging	0.88
IGL00737:Abca6	APN	11	110,087,823 (GRCm39)	splice site	probably benign
IGL01024:Abca6	APN	11	110,087,968 (GRCm39)	missense	probably benign
IGL01087:Abca6	APN	11	110,082,476 (GRCm39)	missense	probably benign	0.00
IGL01511:Abca6	APN	11	110,135,136 (GRCm39)	missense	probably benign	0.00
IGL01516:Abca6	APN	11	110,109,043 (GRCm39)	missense	possibly damaging	0.70
IGL01621:Abca6	APN	11	110,075,534 (GRCm39)	missense	probably damaging	1.00
IGL01749:Abca6	APN	11	110,135,050 (GRCm39)	missense	probably damaging	1.00
IGL01934:Abca6	APN	11	110,079,481 (GRCm39)	missense	probably benign	0.00
IGL02010:Abca6	APN	11	110,110,442 (GRCm39)	missense	probably benign	0.12
IGL02121:Abca6	APN	11	110,073,750 (GRCm39)	missense	probably benign	0.38
IGL02423:Abca6	APN	11	110,109,832 (GRCm39)	splice site	probably benign
IGL02428:Abca6	APN	11	110,069,618 (GRCm39)	missense	possibly damaging	0.81
IGL02491:Abca6	APN	11	110,067,794 (GRCm39)	utr 3 prime	probably benign
IGL02541:Abca6	APN	11	110,103,093 (GRCm39)	missense	probably damaging	1.00
IGL02792:Abca6	APN	11	110,079,507 (GRCm39)	missense	probably damaging	0.99
IGL02836:Abca6	APN	11	110,139,374 (GRCm39)	missense	probably damaging	1.00
IGL02965:Abca6	APN	11	110,071,439 (GRCm39)	missense	probably benign
IGL03094:Abca6	APN	11	110,074,938 (GRCm39)	missense	probably benign	0.03
IGL03109:Abca6	APN	11	110,071,173 (GRCm39)	missense	probably damaging	0.96
R0068:Abca6	UTSW	11	110,073,708 (GRCm39)	missense	probably damaging	1.00
R0142:Abca6	UTSW	11	110,079,467 (GRCm39)	missense	probably damaging	1.00
R0165:Abca6	UTSW	11	110,110,430 (GRCm39)	missense	possibly damaging	0.90
R0254:Abca6	UTSW	11	110,127,615 (GRCm39)	missense	probably benign	0.16
R0598:Abca6	UTSW	11	110,087,980 (GRCm39)	missense	probably damaging	1.00
R0992:Abca6	UTSW	11	110,102,510 (GRCm39)	missense	probably damaging	1.00
R1386:Abca6	UTSW	11	110,135,081 (GRCm39)	missense	probably benign	0.02
R1642:Abca6	UTSW	11	110,109,107 (GRCm39)	missense	possibly damaging	0.73
R1673:Abca6	UTSW	11	110,103,165 (GRCm39)	missense	probably benign	0.01
R1792:Abca6	UTSW	11	110,074,870 (GRCm39)	missense	probably benign	0.00
R1813:Abca6	UTSW	11	110,124,671 (GRCm39)	splice site	probably benign
R1817:Abca6	UTSW	11	110,110,144 (GRCm39)	missense	probably benign	0.00
R1842:Abca6	UTSW	11	110,087,865 (GRCm39)	missense	probably benign	0.00
R1898:Abca6	UTSW	11	110,099,625 (GRCm39)	missense	probably damaging	0.99
R1914:Abca6	UTSW	11	110,103,036 (GRCm39)	missense	probably benign	0.06
R1915:Abca6	UTSW	11	110,103,036 (GRCm39)	missense	probably benign	0.06
R1934:Abca6	UTSW	11	110,100,909 (GRCm39)	critical splice donor site	probably null
R1964:Abca6	UTSW	11	110,075,502 (GRCm39)	missense	probably damaging	0.98
R1967:Abca6	UTSW	11	110,077,974 (GRCm39)	missense	probably benign	0.09
R2127:Abca6	UTSW	11	110,110,475 (GRCm39)	missense	probably benign	0.00
R2128:Abca6	UTSW	11	110,110,475 (GRCm39)	missense	probably benign	0.00
R2164:Abca6	UTSW	11	110,101,019 (GRCm39)	frame shift	probably null
R2895:Abca6	UTSW	11	110,093,252 (GRCm39)	missense	probably benign	0.00
R3110:Abca6	UTSW	11	110,069,655 (GRCm39)	nonsense	probably null
R3111:Abca6	UTSW	11	110,069,655 (GRCm39)	nonsense	probably null
R3112:Abca6	UTSW	11	110,069,655 (GRCm39)	nonsense	probably null
R4094:Abca6	UTSW	11	110,071,192 (GRCm39)	missense	probably damaging	1.00
R4432:Abca6	UTSW	11	110,132,414 (GRCm39)	missense	probably benign	0.11
R4474:Abca6	UTSW	11	110,124,598 (GRCm39)	missense	possibly damaging	0.46
R4572:Abca6	UTSW	11	110,107,374 (GRCm39)	missense	probably benign	0.31
R4629:Abca6	UTSW	11	110,121,375 (GRCm39)	critical splice acceptor site	probably null
R4793:Abca6	UTSW	11	110,082,544 (GRCm39)	missense	probably benign
R4852:Abca6	UTSW	11	110,135,029 (GRCm39)	missense	probably benign	0.09
R4867:Abca6	UTSW	11	110,093,205 (GRCm39)	missense	probably benign	0.01
R4879:Abca6	UTSW	11	110,110,526 (GRCm39)	missense	probably damaging	0.98
R4918:Abca6	UTSW	11	110,071,377 (GRCm39)	missense	probably damaging	1.00
R5060:Abca6	UTSW	11	110,110,430 (GRCm39)	missense	possibly damaging	0.90
R5062:Abca6	UTSW	11	110,067,892 (GRCm39)	missense	probably benign	0.12
R5083:Abca6	UTSW	11	110,109,793 (GRCm39)	missense	probably damaging	1.00
R5173:Abca6	UTSW	11	110,082,546 (GRCm39)	missense	probably benign
R5393:Abca6	UTSW	11	110,135,121 (GRCm39)	missense	probably benign	0.00
R5484:Abca6	UTSW	11	110,074,899 (GRCm39)	missense	probably damaging	1.00
R5498:Abca6	UTSW	11	110,099,670 (GRCm39)	missense	possibly damaging	0.95
R5503:Abca6	UTSW	11	110,109,083 (GRCm39)	missense	probably damaging	1.00
R5645:Abca6	UTSW	11	110,141,234 (GRCm39)	missense	probably damaging	0.99
R5680:Abca6	UTSW	11	110,127,471 (GRCm39)	missense	possibly damaging	0.88
R5761:Abca6	UTSW	11	110,100,927 (GRCm39)	missense	probably damaging	1.00
R5779:Abca6	UTSW	11	110,075,496 (GRCm39)	missense	probably benign	0.37
R5818:Abca6	UTSW	11	110,110,469 (GRCm39)	missense	probably damaging	1.00
R6282:Abca6	UTSW	11	110,099,650 (GRCm39)	missense	probably damaging	0.98
R6455:Abca6	UTSW	11	110,132,407 (GRCm39)	missense	probably damaging	1.00
R6826:Abca6	UTSW	11	110,107,431 (GRCm39)	missense	probably benign	0.15
R6857:Abca6	UTSW	11	110,110,514 (GRCm39)	missense	possibly damaging	0.63
R6914:Abca6	UTSW	11	110,081,064 (GRCm39)	missense	probably benign
R6931:Abca6	UTSW	11	110,135,154 (GRCm39)	missense	probably benign	0.27
R7222:Abca6	UTSW	11	110,082,519 (GRCm39)	missense	probably benign	0.29
R7242:Abca6	UTSW	11	110,132,479 (GRCm39)	missense	possibly damaging	0.47
R7297:Abca6	UTSW	11	110,073,852 (GRCm39)	critical splice donor site	probably null
R7387:Abca6	UTSW	11	110,093,246 (GRCm39)	missense	probably benign
R7420:Abca6	UTSW	11	110,141,303 (GRCm39)	missense	probably benign	0.24
R7494:Abca6	UTSW	11	110,099,571 (GRCm39)	missense	possibly damaging	0.93
R7603:Abca6	UTSW	11	110,071,084 (GRCm39)	missense	possibly damaging	0.69
R7637:Abca6	UTSW	11	110,109,778 (GRCm39)	missense	probably benign	0.00
R7674:Abca6	UTSW	11	110,110,123 (GRCm39)	missense	probably damaging	1.00
R7753:Abca6	UTSW	11	110,074,933 (GRCm39)	missense	probably damaging	1.00
R7800:Abca6	UTSW	11	110,078,698 (GRCm39)	missense	probably benign	0.00
R7842:Abca6	UTSW	11	110,087,523 (GRCm39)	missense	possibly damaging	0.76
R7855:Abca6	UTSW	11	110,082,454 (GRCm39)	missense	probably benign	0.01
R8119:Abca6	UTSW	11	110,087,930 (GRCm39)	missense	probably benign	0.00
R8176:Abca6	UTSW	11	110,135,020 (GRCm39)	missense	probably benign	0.01
R8179:Abca6	UTSW	11	110,136,100 (GRCm39)	missense	probably damaging	1.00
R8197:Abca6	UTSW	11	110,102,641 (GRCm39)	missense	probably damaging	0.99
R8241:Abca6	UTSW	11	110,079,456 (GRCm39)	missense	probably null	1.00
R8404:Abca6	UTSW	11	110,110,145 (GRCm39)	missense	probably damaging	0.99
R8429:Abca6	UTSW	11	110,093,208 (GRCm39)	missense	probably benign
R8502:Abca6	UTSW	11	110,110,145 (GRCm39)	missense	probably damaging	0.99
R8816:Abca6	UTSW	11	110,127,513 (GRCm39)	missense	probably benign	0.04
R8964:Abca6	UTSW	11	110,139,363 (GRCm39)	missense	probably benign	0.00
R9153:Abca6	UTSW	11	110,107,481 (GRCm39)	missense	possibly damaging	0.61
R9233:Abca6	UTSW	11	110,082,496 (GRCm39)	missense	probably benign	0.31
R9407:Abca6	UTSW	11	110,093,210 (GRCm39)	nonsense	probably null
R9412:Abca6	UTSW	11	110,103,059 (GRCm39)	missense	probably damaging	0.99
R9453:Abca6	UTSW	11	110,138,090 (GRCm39)	critical splice donor site	probably null
R9533:Abca6	UTSW	11	110,102,582 (GRCm39)	missense	probably benign	0.16
R9546:Abca6	UTSW	11	110,135,042 (GRCm39)	nonsense	probably null
R9650:Abca6	UTSW	11	110,071,446 (GRCm39)	missense	probably benign	0.32
R9702:Abca6	UTSW	11	110,107,378 (GRCm39)	missense	probably damaging	1.00
R9709:Abca6	UTSW	11	110,102,589 (GRCm39)	missense	probably benign	0.01
X0024:Abca6	UTSW	11	110,135,081 (GRCm39)	missense	probably benign	0.02
X0064:Abca6	UTSW	11	110,087,968 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCAGGCATGTAGGGAGTCAG -3'
(R):5'- TGTATATCAGCAGGCTATGTTTTCC -3'

Sequencing Primer
(F):5'- ATCAATGCTTTGAATTCTACTCCCG -3'
(R):5'- CTTTCTGTGATATGTTCTTGTTGTTC -3'

Posted On

2020-06-30