Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01482:Abca9'

88659

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abca9

Ensembl Gene

ENSMUSG00000041797

Gene Name

ATP-binding cassette, sub-family A member 9

Synonyms

D630040K07Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01482

Quality Score

Status

Chromosome

Chromosomal Location

109991575-110059022 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110011599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 1148 (F1148S)

Ref Sequence

ENSEMBL: ENSMUSP00000036338 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044850]

AlphaFold

Q8K449

Predicted Effect

probably benign
Transcript: ENSMUST00000044850
AA Change: F1148S

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000036338
Gene: ENSMUSG00000041797
AA Change: F1148S

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	28	419	2.7e-31	PFAM
AAA	509	693	9.28e-12	SMART
low complexity region	817	837	N/A	INTRINSIC
transmembrane domain	862	884	N/A	INTRINSIC
Pfam:ABC2_membrane_3	918	1219	5.2e-15	PFAM
low complexity region	1250	1259	N/A	INTRINSIC
AAA	1317	1497	8.47e-6	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two transmembrane domains and two nucleotide binding folds. 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 gene is a member of the ABC1 subfamily and is clustered with four other ABC1 family members on chromosome 17q24. Transcriptional expression of this gene is induced during monocyte differentiation into macrophages and is suppressed by cholesterol import. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	A	T	1: 120,099,201 (GRCm39)	D98V	probably benign	Het
Aatf	G	A	11: 84,361,536 (GRCm39)	R356C	possibly damaging	Het
Abca15	A	T	7: 119,981,969 (GRCm39)	T1095S	probably benign	Het
Adam12	G	T	7: 133,569,577 (GRCm39)	D299E	probably damaging	Het
Alyref	A	T	11: 120,486,762 (GRCm39)	N166K	possibly damaging	Het
Atxn1	A	T	13: 45,710,790 (GRCm39)	I714N	probably benign	Het
Bves	A	G	10: 45,230,902 (GRCm39)	E291G	possibly damaging	Het
Chrm2	A	G	6: 36,500,692 (GRCm39)	N183S	possibly damaging	Het
Dennd2a	T	C	6: 39,457,243 (GRCm39)	H733R	probably damaging	Het
Erbb3	C	T	10: 128,408,798 (GRCm39)	G762S	possibly damaging	Het
Gm29326	A	C	7: 29,260,136 (GRCm39)		noncoding transcript	Het
Itgb2l	A	T	16: 96,239,948 (GRCm39)	L17Q	probably damaging	Het
Jade1	T	A	3: 41,567,937 (GRCm39)	D668E	probably benign	Het
Ksr1	G	A	11: 78,927,409 (GRCm39)	T308I	probably damaging	Het
Mfap4	A	G	11: 61,378,583 (GRCm39)	D177G	probably damaging	Het
Mmut	C	T	17: 41,267,162 (GRCm39)	R579C	probably damaging	Het
Muc2	A	T	7: 141,307,797 (GRCm39)	I369F	probably damaging	Het
Myh13	A	T	11: 67,242,894 (GRCm39)	M936L	probably benign	Het
Nckap5	G	T	1: 125,950,897 (GRCm39)	S1598Y	probably damaging	Het
Nlrp10	T	A	7: 108,526,159 (GRCm39)	M60L	probably benign	Het
Nlrp12	T	C	7: 3,283,790 (GRCm39)	N739S	possibly damaging	Het
Or5p58	A	C	7: 107,694,693 (GRCm39)	V28G	probably benign	Het
Pappa	A	T	4: 65,074,271 (GRCm39)	H275L	probably benign	Het
Plekhm2	A	G	4: 141,357,340 (GRCm39)	S711P	probably damaging	Het
Ptpn1	G	A	2: 167,809,712 (GRCm39)	V107M	probably damaging	Het
Ptprf	G	A	4: 118,069,651 (GRCm39)	R1498C	probably damaging	Het
Rhobtb2	A	G	14: 70,034,037 (GRCm39)	I396T	possibly damaging	Het
Ryr1	A	G	7: 28,751,762 (GRCm39)	F3668S	probably damaging	Het
Serpinb6d	T	C	13: 33,855,346 (GRCm39)	V340A	probably benign	Het
Silc1	T	A	12: 27,191,893 (GRCm39)		noncoding transcript	Het
Spaca3	G	T	11: 80,758,510 (GRCm39)	V158L	probably benign	Het
Tdp1	A	G	12: 99,857,639 (GRCm39)	N66S	probably benign	Het
Tmem132d	A	T	5: 128,346,270 (GRCm39)	I84N	probably damaging	Het
Uggt2	T	A	14: 119,295,057 (GRCm39)	D523V	probably damaging	Het
Usp17la	A	T	7: 104,508,600 (GRCm39)	M1L	probably benign	Het
Yeats2	C	T	16: 20,041,671 (GRCm39)	T1202I	probably damaging	Het

Other mutations in Abca9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Abca9	APN	11	110,051,342 (GRCm39)	missense	probably benign
IGL00467:Abca9	APN	11	110,036,496 (GRCm39)	splice site	probably benign
IGL00886:Abca9	APN	11	110,054,101 (GRCm39)	missense	possibly damaging	0.93
IGL01340:Abca9	APN	11	110,021,453 (GRCm39)	missense	probably benign
IGL01351:Abca9	APN	11	110,039,729 (GRCm39)	missense	probably damaging	0.99
IGL01383:Abca9	APN	11	110,004,119 (GRCm39)	splice site	probably benign
IGL01384:Abca9	APN	11	110,036,463 (GRCm39)	missense	probably damaging	1.00
IGL01586:Abca9	APN	11	110,045,243 (GRCm39)	missense	probably damaging	0.99
IGL01589:Abca9	APN	11	110,046,003 (GRCm39)	missense	probably damaging	1.00
IGL01926:Abca9	APN	11	110,026,155 (GRCm39)	splice site	probably benign
IGL02059:Abca9	APN	11	110,051,220 (GRCm39)	splice site	probably benign
IGL02084:Abca9	APN	11	110,021,423 (GRCm39)	missense	probably benign
IGL02096:Abca9	APN	11	110,056,806 (GRCm39)	missense	probably benign	0.01
IGL02096:Abca9	APN	11	109,993,359 (GRCm39)	missense	probably damaging	1.00
IGL02290:Abca9	APN	11	110,026,177 (GRCm39)	missense	probably damaging	1.00
IGL02303:Abca9	APN	11	110,045,376 (GRCm39)	missense	probably damaging	1.00
IGL02549:Abca9	APN	11	109,992,879 (GRCm39)	missense	probably damaging	1.00
IGL02687:Abca9	APN	11	110,005,058 (GRCm39)	missense	probably damaging	1.00
IGL02752:Abca9	APN	11	110,018,194 (GRCm39)	missense	probably damaging	1.00
IGL02814:Abca9	APN	11	110,045,293 (GRCm39)	missense	possibly damaging	0.90
IGL02878:Abca9	APN	11	110,029,155 (GRCm39)	missense	probably benign	0.01
IGL03088:Abca9	APN	11	110,035,087 (GRCm39)	missense	probably benign	0.06
IGL03231:Abca9	APN	11	110,046,094 (GRCm39)	missense	probably damaging	0.96
R0050:Abca9	UTSW	11	110,036,417 (GRCm39)	missense	probably damaging	1.00
R0050:Abca9	UTSW	11	110,036,417 (GRCm39)	missense	probably damaging	1.00
R0064:Abca9	UTSW	11	110,035,698 (GRCm39)	missense	probably damaging	1.00
R0064:Abca9	UTSW	11	110,035,697 (GRCm39)	missense	probably damaging	1.00
R0068:Abca9	UTSW	11	110,036,405 (GRCm39)	missense	probably damaging	0.99
R0189:Abca9	UTSW	11	110,032,488 (GRCm39)	splice site	probably benign
R0189:Abca9	UTSW	11	109,999,479 (GRCm39)	missense	probably damaging	1.00
R0375:Abca9	UTSW	11	110,006,273 (GRCm39)	missense	probably benign	0.00
R0601:Abca9	UTSW	11	110,007,884 (GRCm39)	critical splice donor site	probably null
R0624:Abca9	UTSW	11	110,030,446 (GRCm39)	missense	probably damaging	1.00
R0652:Abca9	UTSW	11	110,042,889 (GRCm39)	missense	probably benign	0.02
R1004:Abca9	UTSW	11	110,042,780 (GRCm39)	missense	possibly damaging	0.88
R1222:Abca9	UTSW	11	110,035,890 (GRCm39)	splice site	probably benign
R1451:Abca9	UTSW	11	110,018,273 (GRCm39)	missense	probably damaging	1.00
R1462:Abca9	UTSW	11	110,051,342 (GRCm39)	missense	probably benign
R1462:Abca9	UTSW	11	110,051,342 (GRCm39)	missense	probably benign
R1474:Abca9	UTSW	11	110,036,405 (GRCm39)	missense	probably damaging	0.99
R1499:Abca9	UTSW	11	110,030,458 (GRCm39)	missense	probably benign	0.00
R1778:Abca9	UTSW	11	110,021,542 (GRCm39)	nonsense	probably null
R2015:Abca9	UTSW	11	110,022,672 (GRCm39)	missense	probably benign	0.01
R2295:Abca9	UTSW	11	110,039,729 (GRCm39)	missense	probably damaging	0.99
R2303:Abca9	UTSW	11	110,049,052 (GRCm39)	missense	probably benign	0.01
R2403:Abca9	UTSW	11	110,006,280 (GRCm39)	missense	probably benign	0.16
R2886:Abca9	UTSW	11	110,035,712 (GRCm39)	splice site	probably benign
R3435:Abca9	UTSW	11	110,045,256 (GRCm39)	missense	probably benign	0.24
R3976:Abca9	UTSW	11	110,039,615 (GRCm39)	missense	probably benign	0.25
R4335:Abca9	UTSW	11	110,042,843 (GRCm39)	missense	probably damaging	1.00
R4411:Abca9	UTSW	11	110,042,781 (GRCm39)	missense	probably benign	0.00
R4613:Abca9	UTSW	11	110,035,610 (GRCm39)	missense	probably benign	0.26
R4690:Abca9	UTSW	11	110,039,706 (GRCm39)	missense	probably damaging	1.00
R4720:Abca9	UTSW	11	110,018,248 (GRCm39)	missense	probably damaging	1.00
R4751:Abca9	UTSW	11	110,021,396 (GRCm39)	missense	probably benign	0.00
R4797:Abca9	UTSW	11	110,008,945 (GRCm39)	missense	probably benign
R4818:Abca9	UTSW	11	110,045,980 (GRCm39)	critical splice donor site	probably null
R4903:Abca9	UTSW	11	110,037,827 (GRCm39)	missense	probably damaging	1.00
R4971:Abca9	UTSW	11	110,042,874 (GRCm39)	missense	probably benign	0.43
R4977:Abca9	UTSW	11	110,026,899 (GRCm39)	missense	probably benign	0.00
R5019:Abca9	UTSW	11	110,056,760 (GRCm39)	missense	probably benign
R5079:Abca9	UTSW	11	110,036,395 (GRCm39)	missense	possibly damaging	0.47
R5082:Abca9	UTSW	11	110,022,694 (GRCm39)	missense	probably benign
R5093:Abca9	UTSW	11	110,032,358 (GRCm39)	missense	probably damaging	0.98
R5212:Abca9	UTSW	11	109,998,052 (GRCm39)	missense	probably benign	0.02
R5350:Abca9	UTSW	11	110,006,364 (GRCm39)	missense	probably benign
R5368:Abca9	UTSW	11	110,036,372 (GRCm39)	missense	probably damaging	1.00
R5432:Abca9	UTSW	11	110,032,380 (GRCm39)	missense	possibly damaging	0.83
R5436:Abca9	UTSW	11	110,025,062 (GRCm39)	missense	probably damaging	1.00
R5497:Abca9	UTSW	11	110,021,518 (GRCm39)	missense	probably damaging	1.00
R5503:Abca9	UTSW	11	110,032,436 (GRCm39)	missense	probably damaging	1.00
R5594:Abca9	UTSW	11	110,035,688 (GRCm39)	missense	probably damaging	1.00
R5742:Abca9	UTSW	11	110,051,243 (GRCm39)	missense	probably damaging	0.98
R5776:Abca9	UTSW	11	109,998,286 (GRCm39)	splice site	probably null
R5781:Abca9	UTSW	11	109,992,813 (GRCm39)	missense	probably damaging	1.00
R5872:Abca9	UTSW	11	110,007,902 (GRCm39)	missense	possibly damaging	0.70
R5923:Abca9	UTSW	11	110,051,378 (GRCm39)	missense	probably benign	0.09
R6020:Abca9	UTSW	11	110,036,439 (GRCm39)	missense	possibly damaging	0.86
R6179:Abca9	UTSW	11	110,025,080 (GRCm39)	missense	probably benign	0.05
R6245:Abca9	UTSW	11	110,026,249 (GRCm39)	missense	probably damaging	1.00
R6249:Abca9	UTSW	11	110,036,453 (GRCm39)	missense	probably benign
R6365:Abca9	UTSW	11	110,036,481 (GRCm39)	missense	possibly damaging	0.63
R6385:Abca9	UTSW	11	110,025,080 (GRCm39)	missense	probably damaging	0.99
R6481:Abca9	UTSW	11	110,056,788 (GRCm39)	nonsense	probably null
R6675:Abca9	UTSW	11	110,006,302 (GRCm39)	missense	probably benign
R6909:Abca9	UTSW	11	110,006,323 (GRCm39)	missense	probably benign	0.01
R7390:Abca9	UTSW	11	110,036,487 (GRCm39)	missense	probably benign	0.01
R7429:Abca9	UTSW	11	110,018,252 (GRCm39)	frame shift	probably null
R7431:Abca9	UTSW	11	110,018,252 (GRCm39)	frame shift	probably null
R7621:Abca9	UTSW	11	110,051,359 (GRCm39)	missense	probably benign	0.00
R7623:Abca9	UTSW	11	109,998,384 (GRCm39)	missense	probably benign	0.27
R7660:Abca9	UTSW	11	110,006,278 (GRCm39)	missense	probably benign
R7784:Abca9	UTSW	11	110,045,243 (GRCm39)	nonsense	probably null
R7798:Abca9	UTSW	11	110,029,005 (GRCm39)	missense	probably benign	0.45
R7839:Abca9	UTSW	11	110,025,085 (GRCm39)	missense	probably benign	0.43
R7891:Abca9	UTSW	11	110,054,098 (GRCm39)	missense	probably benign	0.03
R7894:Abca9	UTSW	11	109,997,415 (GRCm39)	missense	possibly damaging	0.49
R8030:Abca9	UTSW	11	110,011,534 (GRCm39)	missense	probably benign
R8133:Abca9	UTSW	11	110,018,289 (GRCm39)	missense	possibly damaging	0.88
R8195:Abca9	UTSW	11	110,029,155 (GRCm39)	missense	probably benign	0.01
R8304:Abca9	UTSW	11	109,997,954 (GRCm39)	critical splice donor site	probably null
R8386:Abca9	UTSW	11	110,021,518 (GRCm39)	missense	probably damaging	1.00
R8390:Abca9	UTSW	11	110,036,456 (GRCm39)	missense	probably benign	0.01
R8692:Abca9	UTSW	11	110,032,409 (GRCm39)	missense	probably benign	0.11
R8721:Abca9	UTSW	11	110,035,115 (GRCm39)	missense	possibly damaging	0.82
R8738:Abca9	UTSW	11	110,056,817 (GRCm39)	start codon destroyed	probably null	1.00
R8900:Abca9	UTSW	11	110,045,218 (GRCm39)	missense	probably benign
R8948:Abca9	UTSW	11	110,054,206 (GRCm39)	critical splice acceptor site	probably null
R8950:Abca9	UTSW	11	110,054,206 (GRCm39)	critical splice acceptor site	probably null
R8964:Abca9	UTSW	11	110,038,075 (GRCm39)	nonsense	probably null
R9019:Abca9	UTSW	11	110,011,522 (GRCm39)	missense
R9034:Abca9	UTSW	11	110,039,615 (GRCm39)	missense	probably benign	0.25
R9035:Abca9	UTSW	11	110,021,461 (GRCm39)	missense	probably damaging	0.97
R9086:Abca9	UTSW	11	109,992,879 (GRCm39)	missense	probably damaging	1.00
R9199:Abca9	UTSW	11	110,056,770 (GRCm39)	missense	possibly damaging	0.49
R9402:Abca9	UTSW	11	110,049,154 (GRCm39)	missense	probably benign	0.14
R9414:Abca9	UTSW	11	110,035,100 (GRCm39)	missense	probably damaging	0.97
R9554:Abca9	UTSW	11	110,029,107 (GRCm39)	missense	probably benign
R9626:Abca9	UTSW	11	110,011,606 (GRCm39)	missense	probably benign	0.01
R9651:Abca9	UTSW	11	110,006,319 (GRCm39)	missense	probably benign	0.09
R9665:Abca9	UTSW	11	110,006,281 (GRCm39)	missense	probably benign	0.00
R9665:Abca9	UTSW	11	110,006,280 (GRCm39)	missense	probably benign
R9731:Abca9	UTSW	11	110,025,024 (GRCm39)	missense	probably benign
Z1176:Abca9	UTSW	11	110,026,201 (GRCm39)	missense	probably benign	0.02

Posted On

2013-11-18