Mutagenetix > Incidental Mutation

Incidental Mutation 'R5079:Abca9'

387041

Institutional Source

Beutler Lab

Gene Symbol

Abca9

Ensembl Gene

ENSMUSG00000041797

Gene Name

ATP-binding cassette, sub-family A member 9

Synonyms

D630040K07Rik

MMRRC Submission

042668-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5079 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109991575-110059022 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110036395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 571 (F571L)

Ref Sequence

ENSEMBL: ENSMUSP00000036338 (fasta)

Gene Model

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

AlphaFold

Q8K449

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044850
AA Change: F571L

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000036338
Gene: ENSMUSG00000041797
AA Change: F571L

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

0.3692

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.6%

Validation Efficiency

90% (63/70)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	C	5: 109,885,196 (GRCm39)	S221G	probably benign	Het
Agbl4	T	A	4: 111,423,826 (GRCm39)	M284K	possibly damaging	Het
Ankrd16	A	G	2: 11,783,710 (GRCm39)	D104G	probably damaging	Het
Bpifc	T	C	10: 85,817,168 (GRCm39)	D230G	probably damaging	Het
Casc3	C	T	11: 98,701,252 (GRCm39)		probably benign	Het
Catsperd	T	C	17: 56,965,153 (GRCm39)		probably null	Het
Cpxm2	C	T	7: 131,756,014 (GRCm39)		probably null	Het
Crisp1	A	T	17: 40,619,867 (GRCm39)		probably null	Het
Crybg2	T	C	4: 133,801,564 (GRCm39)	I908T	possibly damaging	Het
Csn3	T	C	5: 88,077,626 (GRCm39)	V44A	possibly damaging	Het
Dipk1c	A	T	18: 84,748,702 (GRCm39)	H100L	probably benign	Het
Dop1a	T	A	9: 86,369,474 (GRCm39)	D102E	probably damaging	Het
Etfdh	T	C	3: 79,525,705 (GRCm39)	Y111C	probably damaging	Het
Fat3	T	C	9: 15,910,423 (GRCm39)	S1860G	probably benign	Het
Gba2	G	T	4: 43,568,640 (GRCm39)		probably benign	Het
Ggta1	A	G	2: 35,312,249 (GRCm39)	I43T	possibly damaging	Het
Glb1l2	T	C	9: 26,682,405 (GRCm39)	I149V	probably benign	Het
Gm5084	T	A	13: 60,360,639 (GRCm39)		noncoding transcript	Het
Gm5591	G	T	7: 38,221,560 (GRCm39)	P170T	probably benign	Het
Gucy2d	A	T	7: 98,107,475 (GRCm39)		probably null	Het
Itpr3	T	C	17: 27,317,397 (GRCm39)	F851L	probably damaging	Het
Kat2b	T	A	17: 53,970,666 (GRCm39)	I684N	probably damaging	Het
Klra17	C	A	6: 129,849,159 (GRCm39)	K138N	possibly damaging	Het
Lrrc4	T	A	6: 28,830,769 (GRCm39)	H282L	possibly damaging	Het
Lyst	T	C	13: 13,931,938 (GRCm39)	I3522T	probably benign	Het
Man2c1	A	G	9: 57,044,000 (GRCm39)	T312A	probably damaging	Het
Mapkbp1	A	G	2: 119,844,214 (GRCm39)	R313G	probably damaging	Het
N4bp2	G	A	5: 65,969,320 (GRCm39)	G1361R	probably damaging	Het
Nbas	A	T	12: 13,424,712 (GRCm39)	I984F	probably damaging	Het
Ncor1	T	A	11: 62,236,063 (GRCm39)	Q579L	possibly damaging	Het
Nme9	A	G	9: 99,341,755 (GRCm39)	Y35C	probably damaging	Het
Or5w13	C	A	2: 87,523,552 (GRCm39)	V225F	probably damaging	Het
Ormdl1	T	C	1: 53,348,093 (GRCm39)	V145A	probably damaging	Het
Paxbp1	C	A	16: 90,822,034 (GRCm39)		probably null	Het
Pcnx1	C	A	12: 82,025,863 (GRCm39)	S1530*	probably null	Het
Pogk	A	G	1: 166,226,733 (GRCm39)	W473R	probably damaging	Het
Pot1b	A	T	17: 55,976,801 (GRCm39)	S374T	probably benign	Het
Rcn1	A	G	2: 105,229,402 (GRCm39)	F50S	probably damaging	Het
Rcvrn	T	A	11: 67,593,767 (GRCm39)	I186N	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Ror1	T	A	4: 100,298,619 (GRCm39)	I664N	probably damaging	Het
Sall2	G	T	14: 52,552,211 (GRCm39)	A326E	probably damaging	Het
Sh2d6	G	A	6: 72,496,833 (GRCm39)	P66S	probably benign	Het
Slc6a20b	T	A	9: 123,427,563 (GRCm39)	S449C	probably damaging	Het
Slc9a3	A	T	13: 74,312,406 (GRCm39)	N668Y	probably damaging	Het
Slco1a8	A	C	6: 141,918,073 (GRCm39)	I601R	probably benign	Het
Sorcs2	T	G	5: 36,200,796 (GRCm39)	K584T	probably damaging	Het
Stam	T	C	2: 14,079,350 (GRCm39)	M8T	probably benign	Het
Styk1	G	A	6: 131,278,676 (GRCm39)	P333S	probably damaging	Het
Sycp1	A	G	3: 102,786,116 (GRCm39)	C589R	possibly damaging	Het
Tas2r123	A	G	6: 132,824,681 (GRCm39)	I193V	probably benign	Het
Tnks1bp1	C	A	2: 84,892,970 (GRCm39)	Q304K	probably damaging	Het
Traf3ip2	T	C	10: 39,502,473 (GRCm39)	L207P	probably damaging	Het
Usp49	A	G	17: 47,984,146 (GRCm39)	S384G	possibly damaging	Het
Vezt	T	C	10: 93,856,486 (GRCm39)		probably null	Het
Vmn1r87	C	A	7: 12,866,253 (GRCm39)	M11I	probably benign	Het
Vmn2r39	A	G	7: 9,026,489 (GRCm39)	V504A	probably benign	Het
Wapl	G	A	14: 34,446,714 (GRCm39)	A607T	probably damaging	Het
Zfp638	A	G	6: 83,906,438 (GRCm39)	N201S	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGGCCTAACTTTAGAAGATGG -3'
(R):5'- CCTGCTGTGTGTTGCAAATC -3'

Sequencing Primer
(F):5'- GCCTAACTTTAGAAGATGGAAGTATC -3'
(R):5'- GCAAATCTGCTTGAGTGAATCCTG -3'

Posted On

2016-06-06