Mutagenetix > Incidental Mutation

Incidental Mutation 'R8964:Abca6'

682632

Institutional Source

Beutler Lab

Gene Symbol

Abca6

Ensembl Gene

ENSMUSG00000044749

Gene Name

ATP-binding cassette, sub-family A member 6

Synonyms

6330565N06Rik

MMRRC Submission

068798-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8964 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110067646-110142602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 110139363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 37 (P37L)

Ref Sequence

ENSEMBL: ENSMUSP00000035458 (fasta)

Gene Model

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

AlphaFold

Q8K441

Predicted Effect

probably benign
Transcript: ENSMUST00000044003
AA Change: P37L

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

SMART Domains

Protein: ENSMUSP00000035458
Gene: ENSMUSG00000044749
AA Change: P37L

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: 99.5%
20x: 98.2%

Validation Efficiency

100% (80/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	C	T	7: 130,740,716 (GRCm39)	V167M	probably benign	Het
Abca9	A	T	11: 110,038,075 (GRCm39)	Y490*	probably null	Het
Abcb11	A	G	2: 69,117,061 (GRCm39)	V529A	possibly damaging	Het
Acox2	G	T	14: 8,243,768 (GRCm38)	Y529*	probably null	Het
Acte1	A	G	7: 143,423,030 (GRCm39)	T39A	probably benign	Het
Adck2	G	T	6: 39,551,083 (GRCm39)		probably benign	Het
Agxt	T	A	1: 93,072,869 (GRCm39)	C409S	possibly damaging	Het
Ahsa1	T	A	12: 87,318,131 (GRCm39)	I164N	probably damaging	Het
Arhgef1	A	G	7: 24,622,462 (GRCm39)	E647G	probably damaging	Het
Axin1	T	G	17: 26,361,718 (GRCm39)	F21V	probably damaging	Het
B3galnt1	A	G	3: 69,482,589 (GRCm39)	I224T	probably damaging	Het
Bche	T	C	3: 73,608,406 (GRCm39)	K340R	probably benign	Het
Bpifb5	T	A	2: 154,072,198 (GRCm39)	W302R	possibly damaging	Het
Cd72	G	A	4: 43,450,218 (GRCm39)	T230I	probably damaging	Het
Cdc42ep4	T	A	11: 113,620,278 (GRCm39)	M38L	probably damaging	Het
Cdcp1	G	A	9: 123,012,561 (GRCm39)	Q329*	probably null	Het
Clps	C	A	17: 28,777,730 (GRCm39)		probably benign	Het
Cluap1	A	G	16: 3,729,334 (GRCm39)		probably benign	Het
CN725425	C	T	15: 91,119,972 (GRCm39)	S31L	possibly damaging	Het
Cnbp	T	C	6: 87,821,086 (GRCm39)	N158D	probably benign	Het
Crebbp	A	G	16: 3,909,753 (GRCm39)	F1545S	probably damaging	Het
Cyp39a1	A	T	17: 44,002,558 (GRCm39)	T258S	probably benign	Het
Dclk2	T	C	3: 86,743,698 (GRCm39)	D257G	probably damaging	Het
Dock7	A	T	4: 98,949,476 (GRCm39)	D455E		Het
Ehbp1	G	A	11: 22,101,154 (GRCm39)	Q259*	probably null	Het
Eif3a	A	T	19: 60,751,630 (GRCm39)	D1228E	unknown	Het
Has2	A	T	15: 56,531,061 (GRCm39)	D551E	probably damaging	Het
Herc1	T	A	9: 66,352,872 (GRCm39)	N2119K	probably damaging	Het
Hsdl1	C	T	8: 120,292,899 (GRCm39)	A179T	probably benign	Het
Htt	T	A	5: 35,062,720 (GRCm39)	M2818K	probably benign	Het
Il18bp	A	G	7: 101,665,591 (GRCm39)	S80P	possibly damaging	Het
Ints10	A	G	8: 69,264,631 (GRCm39)	M455V	probably benign	Het
Ipcef1	T	C	10: 6,869,789 (GRCm39)	T255A	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lrba	T	A	3: 86,258,552 (GRCm39)	D1346E	probably benign	Het
Mdm1	T	A	10: 118,002,585 (GRCm39)	D635E	probably damaging	Het
Met	C	T	6: 17,527,144 (GRCm39)	P532S	probably damaging	Het
Nlrc5	T	A	8: 95,232,116 (GRCm39)	M1314K	possibly damaging	Het
Notch1	A	T	2: 26,371,062 (GRCm39)	S341R	possibly damaging	Het
Nr3c2	T	G	8: 77,881,941 (GRCm39)	L670V	probably damaging	Het
Nuak1	C	T	10: 84,210,734 (GRCm39)	M451I	probably benign	Het
Nubp1	G	A	16: 10,238,894 (GRCm39)	V170I	probably benign	Het
Or5v1	G	A	17: 37,809,664 (GRCm39)	G41S	probably damaging	Het
Or9g8	T	A	2: 85,606,964 (GRCm39)	I12N	probably damaging	Het
Pamr1	T	C	2: 102,464,811 (GRCm39)	V320A	possibly damaging	Het
Pcdhb11	T	A	18: 37,556,660 (GRCm39)	N663K	probably benign	Het
Pcnx1	G	A	12: 82,039,812 (GRCm39)	G1400D		Het
Pdxk	A	T	10: 78,283,771 (GRCm39)	V141E	probably benign	Het
Pex5	A	T	6: 124,375,740 (GRCm39)	N520K	probably benign	Het
Pklr	T	C	3: 89,050,036 (GRCm39)	V337A	probably benign	Het
Polb	T	C	8: 23,143,341 (GRCm39)	D17G	probably damaging	Het
Ppp1r9b	T	C	11: 94,882,705 (GRCm39)	L111P	probably damaging	Het
Prl3d1	A	G	13: 27,283,926 (GRCm39)	E165G	possibly damaging	Het
Prpf40a	A	G	2: 53,035,906 (GRCm39)	F657S	probably damaging	Het
Ptgs2	C	T	1: 149,980,798 (GRCm39)	R455C	probably damaging	Het
Pzp	T	A	6: 128,464,462 (GRCm39)	D1355V	probably benign	Het
Rasl12	T	A	9: 65,314,913 (GRCm39)	V72D	probably damaging	Het
Rfx2	C	A	17: 57,093,696 (GRCm39)	R266L	probably damaging	Het
Rnaseh2a	T	C	8: 85,686,434 (GRCm39)	D204G	probably benign	Het
S1pr3	A	C	13: 51,573,248 (GRCm39)	K143T	probably damaging	Het
Sdr39u1	C	A	14: 56,135,170 (GRCm39)	A258S	possibly damaging	Het
Sntb2	T	A	8: 107,707,808 (GRCm39)	S191T	possibly damaging	Het
Sod3	T	A	5: 52,525,696 (GRCm39)	F132I	probably damaging	Het
Sorcs2	C	T	5: 36,386,511 (GRCm39)	V176I	possibly damaging	Het
Syne1	T	C	10: 5,060,872 (GRCm39)	I7256V		Het
Tbc1d22b	A	G	17: 29,819,202 (GRCm39)	E459G	probably damaging	Het
Tbkbp1	A	G	11: 97,037,169 (GRCm39)	S278P	probably damaging	Het
Thoc5	A	T	11: 4,860,647 (GRCm39)	E245D	possibly damaging	Het
Tmc7	G	A	7: 118,160,228 (GRCm39)	P203L	probably benign	Het
Tns2	T	C	15: 102,011,553 (GRCm39)	L11P	possibly damaging	Het
Trip11	A	G	12: 101,811,315 (GRCm39)		probably null	Het
Ttn	T	G	2: 76,551,309 (GRCm39)	Y31361S	probably damaging	Het
Vars2	T	C	17: 35,970,699 (GRCm39)	E678G	possibly damaging	Het
Vav1	C	A	17: 57,606,122 (GRCm39)	H249N	probably benign	Het
Vmn2r9	T	A	5: 108,996,031 (GRCm39)	I206L	probably benign	Het
Vps4a	T	C	8: 107,771,686 (GRCm39)	S410P	probably damaging	Het
Wdr82	T	C	9: 106,053,861 (GRCm39)	Y71H	possibly damaging	Het
Zfand1	A	G	3: 10,413,631 (GRCm39)	Y19H	probably benign	Het
Zfp365	A	T	10: 67,745,088 (GRCm39)	I230N	probably damaging	Het
Zfp763	T	C	17: 33,240,710 (GRCm39)	T40A	probably benign	Het
Zfp788	A	T	7: 41,297,003 (GRCm39)	D51V	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
R8139:Abca6	UTSW	11	110,074,959 (GRCm39)	missense	probably damaging	1.00
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
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'- CCTTTCATAGTTGGAGCAAATGTTG -3'
(R):5'- AACTTTAGATCAGAGAGCGATGC -3'

Sequencing Primer
(F):5'- CATAGTTGGAGCAAATGTTGTTTTG -3'
(R):5'- GCGACTGCTACCTCAGTGTAC -3'

Posted On

2021-10-11