Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01351:Abca9'

75351

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 #

IGL01351

Quality Score

Status

Chromosome

Chromosomal Location

109991575-110059022 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110039729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 428 (Y428C)

Ref Sequence

ENSEMBL: ENSMUSP00000036338 (fasta)

Gene Model

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

AlphaFold

Q8K449

Predicted Effect

probably damaging
Transcript: ENSMUST00000044850
AA Change: Y428C

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

SMART Domains

Protein: ENSMUSP00000036338
Gene: ENSMUSG00000041797
AA Change: Y428C

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

Meta Mutation Damage Score

0.4049

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,217,565 (GRCm39)	S336P	probably benign	Het
Alpk1	T	C	3: 127,466,011 (GRCm39)	Q1165R	probably damaging	Het
Angel2	C	A	1: 190,665,310 (GRCm39)	N80K	probably benign	Het
Bmp6	T	C	13: 38,653,610 (GRCm39)	S226P	probably damaging	Het
Ccar2	T	C	14: 70,383,311 (GRCm39)	T229A	probably benign	Het
Cdh12	G	A	15: 21,237,989 (GRCm39)	V75M	probably damaging	Het
Cdh6	G	T	15: 13,034,326 (GRCm39)	A778E	possibly damaging	Het
Corin	A	T	5: 72,496,334 (GRCm39)	C540S	probably damaging	Het
Cyfip1	C	A	7: 55,547,991 (GRCm39)	Y530*	probably null	Het
Dock10	T	G	1: 80,570,876 (GRCm39)	K327N	probably damaging	Het
Dpy19l3	A	G	7: 35,426,840 (GRCm39)		probably benign	Het
E2f8	T	C	7: 48,516,899 (GRCm39)	T827A	probably benign	Het
Edem3	T	C	1: 151,668,136 (GRCm39)	V305A	possibly damaging	Het
Fam170a	T	C	18: 50,414,845 (GRCm39)	W164R	probably benign	Het
Fbxw14	T	C	9: 109,103,640 (GRCm39)	D24G	possibly damaging	Het
Gnmt	T	C	17: 47,037,606 (GRCm39)	D124G	probably benign	Het
Gpx5	T	C	13: 21,471,669 (GRCm39)	D178G	probably damaging	Het
Gsdmd	T	A	15: 75,736,186 (GRCm39)	I105N	probably damaging	Het
Hps5	C	T	7: 46,410,856 (GRCm39)	M1113I	probably damaging	Het
Hyal6	T	C	6: 24,734,178 (GRCm39)	F37S	probably damaging	Het
Il17c	C	T	8: 123,148,862 (GRCm39)	T2I	probably benign	Het
Lyz1	A	G	10: 117,127,093 (GRCm39)	C48R	probably damaging	Het
Or52e18	T	A	7: 104,609,946 (GRCm39)		probably benign	Het
Pafah1b3	G	A	7: 24,994,570 (GRCm39)	R215C	possibly damaging	Het
Psmb4	A	T	3: 94,793,538 (GRCm39)		probably null	Het
Rnf213	T	C	11: 119,373,944 (GRCm39)	V5009A	probably benign	Het
Sema6a	T	C	18: 47,414,369 (GRCm39)	K494E	possibly damaging	Het
Sfmbt1	T	C	14: 30,491,777 (GRCm39)	V17A	probably benign	Het
Speg	T	A	1: 75,387,920 (GRCm39)		probably benign	Het
Spint1	A	G	2: 119,076,936 (GRCm39)	D340G	probably damaging	Het
Tasor	A	G	14: 27,186,258 (GRCm39)	E819G	probably benign	Het
Tctn3	T	C	19: 40,596,081 (GRCm39)	I309V	probably benign	Het
Tex19.1	T	A	11: 121,038,072 (GRCm39)	D143E	probably damaging	Het
Tktl2	A	G	8: 66,965,548 (GRCm39)	I369V	probably benign	Het
Tm2d2	A	G	8: 25,510,573 (GRCm39)		probably benign	Het
Traf4	C	A	11: 78,056,226 (GRCm39)	R14L	possibly damaging	Het
Zfhx4	A	G	3: 5,466,196 (GRCm39)	Y2118C	probably damaging	Het
Zmynd15	C	A	11: 70,354,416 (GRCm39)	N425K	probably benign	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
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
IGL01482:Abca9	APN	11	110,011,599 (GRCm39)	missense	probably benign	0.05
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

2013-10-07