Mutagenetix > Incidental Mutation

Incidental Mutation 'R8900:Abca9'

679922

Institutional Source

Beutler Lab

Gene Symbol

Abca9

Ensembl Gene

ENSMUSG00000041797

Gene Name

ATP-binding cassette, sub-family A (ABC1), member 9

Synonyms

D630040K07Rik

MMRRC Submission

Accession Numbers

NCBI RefSeq: NM_147220.2; MGI: 2386796

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8900 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110100749-110168196 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110154392 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 372 (T372A)

Ref Sequence

ENSEMBL: ENSMUSP00000036338 (fasta)

Gene Model

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

AlphaFold

Q8K449

Predicted Effect

probably benign
Transcript: ENSMUST00000044850
AA Change: T372A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000036338
Gene: ENSMUSG00000041797
AA Change: T372A

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (63/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	T	7: 131,302,468		probably benign	Het
Adamts8	C	A	9: 30,954,634	R493S	probably benign	Het
Ankrd33b	G	A	15: 31,297,684	T309I	probably damaging	Het
Arhgap22	G	A	14: 33,271,923	W58*	probably null	Het
B4galt4	C	T	16: 38,752,042		probably benign	Het
Bcl2a1a	A	T	9: 88,957,258	I70L	probably benign	Het
Bst1	A	G	5: 43,820,600	D97G	possibly damaging	Het
Cand2	C	T	6: 115,780,933	T52M	probably benign	Het
Cd101	C	A	3: 101,018,746	R219L	probably benign	Het
Cd163l1	G	A	7: 140,228,565	W796*	probably null	Het
Cd5l	T	A	3: 87,367,575	D140E	probably benign	Het
Cebpa	A	G	7: 35,120,481	M355V	possibly damaging	Het
Cfap74	G	A	4: 155,436,730	E620K		Het
Clec4a4	A	G	6: 123,023,916	E196G	probably damaging	Het
Cpxm1	T	A	2: 130,393,440	D544V	probably damaging	Het
Cwf19l2	T	A	9: 3,447,245	D535E	probably benign	Het
Daw1	T	G	1: 83,198,177	L212R	probably benign	Het
Dnm3	T	A	1: 162,307,876	T443S	probably benign	Het
Dock9	T	C	14: 121,580,528	D1627G	probably damaging	Het
Dohh	A	G	10: 81,387,901	I263V	probably benign	Het
Dsp	G	A	13: 38,181,179	V513M	probably damaging	Het
Dus4l	G	T	12: 31,640,693	L320I	possibly damaging	Het
Edc4	A	C	8: 105,891,225	Q1139P	probably damaging	Het
Fam220a	T	A	5: 143,563,473	C213*	probably null	Het
Fgf14	A	T	14: 123,983,914	Y159*	probably null	Het
Gm45861	A	T	8: 27,529,604	D749V	unknown	Het
Hip1	T	C	5: 135,430,290	T203A	probably benign	Het
Igfals	A	G	17: 24,880,040	D35G	possibly damaging	Het
Itga4	T	A	2: 79,314,988	I716K	probably damaging	Het
Ncaph2	T	A	15: 89,369,391	I282N	probably benign	Het
Ndufb3	T	C	1: 58,595,665	Y59H	probably damaging	Het
Nxpe3	T	C	16: 55,844,660	H399R	probably damaging	Het
Nxph1	T	C	6: 9,247,601	S191P	probably damaging	Het
Olfr29-ps1	G	T	4: 43,781,432	S299R	probably benign	Het
Olfr59	T	C	11: 74,289,587	S314P	probably damaging	Het
Pcdha11	T	G	18: 37,012,746	I630S	probably damaging	Het
Pfkl	C	G	10: 78,000,781	G134A	probably damaging	Het
Phf19	A	T	2: 34,905,472	C196S	probably damaging	Het
Piezo2	T	C	18: 63,115,025	K468R	probably benign	Het
Plekhn1	T	C	4: 156,225,621	S79G	possibly damaging	Het
Pomk	A	G	8: 25,983,356	Y190H	possibly damaging	Het
Ppp1r13b	T	A	12: 111,872,344	E33D	probably damaging	Het
Raly	A	T	2: 154,863,573	I174F	probably damaging	Het
Rint1	T	C	5: 23,811,884	V549A	possibly damaging	Het
Rnf31	T	G	14: 55,596,232	C566G	probably damaging	Het
Sdc1	C	T	12: 8,790,460	T79I	possibly damaging	Het
Sema6a	T	G	18: 47,291,115	E242A	probably damaging	Het
Slc22a30	A	C	19: 8,337,976	M430R	probably damaging	Het
Sp9	C	A	2: 73,273,519	T139K	probably benign	Het
Tbkbp1	T	C	11: 97,149,501	D29G	probably benign	Het
Tcf4	T	C	18: 69,564,690		probably benign	Het
Tenm3	A	T	8: 48,236,402	I2050N	probably damaging	Het
Tiparp	T	A	3: 65,553,182	F531I	probably damaging	Het
Tmem132b	A	T	5: 125,778,820	I539F	probably damaging	Het
Ttf2	T	C	3: 100,952,640	D666G	probably damaging	Het
Vmn1r51	T	C	6: 90,129,860	S253P	probably damaging	Het
Vmn2r104	A	G	17: 20,041,662	I402T	probably damaging	Het
Vmn2r16	T	C	5: 109,363,753	Y609H	probably benign	Het
Vmn2r17	A	T	5: 109,427,997	M245L	probably benign	Het
Vmn2r42	C	T	7: 8,194,793	E276K	probably benign	Het
Wdr75	C	A	1: 45,799,127	N65K	probably damaging	Het
Zfhx4	T	C	3: 5,398,864	S1361P	probably damaging	Het
Zfp317	T	A	9: 19,647,412	C396*	probably null	Het
Zfp651	A	C	9: 121,767,639	K687T	probably damaging	Het

Other mutations in Abca9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Abca9	APN	11	110160516	missense	probably benign
IGL00467:Abca9	APN	11	110145670	splice site	probably benign
IGL00886:Abca9	APN	11	110163275	missense	possibly damaging	0.93
IGL01340:Abca9	APN	11	110130627	missense	probably benign
IGL01351:Abca9	APN	11	110148903	missense	probably damaging	0.99
IGL01383:Abca9	APN	11	110113293	splice site	probably benign
IGL01384:Abca9	APN	11	110145637	missense	probably damaging	1.00
IGL01482:Abca9	APN	11	110120773	missense	probably benign	0.05
IGL01586:Abca9	APN	11	110154417	missense	probably damaging	0.99
IGL01589:Abca9	APN	11	110155177	missense	probably damaging	1.00
IGL01926:Abca9	APN	11	110135329	splice site	probably benign
IGL02059:Abca9	APN	11	110160394	splice site	probably benign
IGL02084:Abca9	APN	11	110130597	missense	probably benign
IGL02096:Abca9	APN	11	110102533	missense	probably damaging	1.00
IGL02096:Abca9	APN	11	110165980	missense	probably benign	0.01
IGL02290:Abca9	APN	11	110135351	missense	probably damaging	1.00
IGL02303:Abca9	APN	11	110154550	missense	probably damaging	1.00
IGL02549:Abca9	APN	11	110102053	missense	probably damaging	1.00
IGL02687:Abca9	APN	11	110114232	missense	probably damaging	1.00
IGL02752:Abca9	APN	11	110127368	missense	probably damaging	1.00
IGL02814:Abca9	APN	11	110154467	missense	possibly damaging	0.90
IGL02878:Abca9	APN	11	110138329	missense	probably benign	0.01
IGL03088:Abca9	APN	11	110144261	missense	probably benign	0.06
IGL03231:Abca9	APN	11	110155268	missense	probably damaging	0.96
R0050:Abca9	UTSW	11	110145591	missense	probably damaging	1.00
R0050:Abca9	UTSW	11	110145591	missense	probably damaging	1.00
R0064:Abca9	UTSW	11	110144871	missense	probably damaging	1.00
R0064:Abca9	UTSW	11	110144872	missense	probably damaging	1.00
R0068:Abca9	UTSW	11	110145579	missense	probably damaging	0.99
R0189:Abca9	UTSW	11	110108653	missense	probably damaging	1.00
R0189:Abca9	UTSW	11	110141662	splice site	probably benign
R0375:Abca9	UTSW	11	110115447	missense	probably benign	0.00
R0601:Abca9	UTSW	11	110117058	critical splice donor site	probably null
R0624:Abca9	UTSW	11	110139620	missense	probably damaging	1.00
R0652:Abca9	UTSW	11	110152063	missense	probably benign	0.02
R1004:Abca9	UTSW	11	110151954	missense	possibly damaging	0.88
R1222:Abca9	UTSW	11	110145064	splice site	probably benign
R1451:Abca9	UTSW	11	110127447	missense	probably damaging	1.00
R1462:Abca9	UTSW	11	110160516	missense	probably benign
R1462:Abca9	UTSW	11	110160516	missense	probably benign
R1474:Abca9	UTSW	11	110145579	missense	probably damaging	0.99
R1499:Abca9	UTSW	11	110139632	missense	probably benign	0.00
R1778:Abca9	UTSW	11	110130716	nonsense	probably null
R2015:Abca9	UTSW	11	110131846	missense	probably benign	0.01
R2295:Abca9	UTSW	11	110148903	missense	probably damaging	0.99
R2303:Abca9	UTSW	11	110158226	missense	probably benign	0.01
R2403:Abca9	UTSW	11	110115454	missense	probably benign	0.16
R2886:Abca9	UTSW	11	110144886	splice site	probably benign
R3435:Abca9	UTSW	11	110154430	missense	probably benign	0.24
R3976:Abca9	UTSW	11	110148789	missense	probably benign	0.25
R4335:Abca9	UTSW	11	110152017	missense	probably damaging	1.00
R4411:Abca9	UTSW	11	110151955	missense	probably benign	0.00
R4613:Abca9	UTSW	11	110144784	missense	probably benign	0.26
R4690:Abca9	UTSW	11	110148880	missense	probably damaging	1.00
R4720:Abca9	UTSW	11	110127422	missense	probably damaging	1.00
R4751:Abca9	UTSW	11	110130570	missense	probably benign	0.00
R4797:Abca9	UTSW	11	110118119	missense	probably benign
R4818:Abca9	UTSW	11	110155154	critical splice donor site	probably null
R4903:Abca9	UTSW	11	110147001	missense	probably damaging	1.00
R4971:Abca9	UTSW	11	110152048	missense	probably benign	0.43
R4977:Abca9	UTSW	11	110136073	missense	probably benign	0.00
R5019:Abca9	UTSW	11	110165934	missense	probably benign
R5079:Abca9	UTSW	11	110145569	missense	possibly damaging	0.47
R5082:Abca9	UTSW	11	110131868	missense	probably benign
R5093:Abca9	UTSW	11	110141532	missense	probably damaging	0.98
R5212:Abca9	UTSW	11	110107226	missense	probably benign	0.02
R5350:Abca9	UTSW	11	110115538	missense	probably benign
R5368:Abca9	UTSW	11	110145546	missense	probably damaging	1.00
R5432:Abca9	UTSW	11	110141554	missense	possibly damaging	0.83
R5436:Abca9	UTSW	11	110134236	missense	probably damaging	1.00
R5497:Abca9	UTSW	11	110130692	missense	probably damaging	1.00
R5503:Abca9	UTSW	11	110141610	missense	probably damaging	1.00
R5594:Abca9	UTSW	11	110144862	missense	probably damaging	1.00
R5742:Abca9	UTSW	11	110160417	missense	probably damaging	0.98
R5776:Abca9	UTSW	11	110107460	splice site	probably null
R5781:Abca9	UTSW	11	110101987	missense	probably damaging	1.00
R5872:Abca9	UTSW	11	110117076	missense	possibly damaging	0.70
R5923:Abca9	UTSW	11	110160552	missense	probably benign	0.09
R6020:Abca9	UTSW	11	110145613	missense	possibly damaging	0.86
R6179:Abca9	UTSW	11	110134254	missense	probably benign	0.05
R6245:Abca9	UTSW	11	110135423	missense	probably damaging	1.00
R6249:Abca9	UTSW	11	110145627	missense	probably benign
R6365:Abca9	UTSW	11	110145655	missense	possibly damaging	0.63
R6385:Abca9	UTSW	11	110134254	missense	probably damaging	0.99
R6481:Abca9	UTSW	11	110165962	nonsense	probably null
R6675:Abca9	UTSW	11	110115476	missense	probably benign
R6909:Abca9	UTSW	11	110115497	missense	probably benign	0.01
R7390:Abca9	UTSW	11	110145661	missense	probably benign	0.01
R7429:Abca9	UTSW	11	110127426	frame shift	probably null
R7431:Abca9	UTSW	11	110127426	frame shift	probably null
R7621:Abca9	UTSW	11	110160533	missense	probably benign	0.00
R7623:Abca9	UTSW	11	110107558	missense	probably benign	0.27
R7660:Abca9	UTSW	11	110115452	missense	probably benign
R7784:Abca9	UTSW	11	110154417	nonsense	probably null
R7798:Abca9	UTSW	11	110138179	missense	probably benign	0.45
R7839:Abca9	UTSW	11	110134259	missense	probably benign	0.43
R7891:Abca9	UTSW	11	110163272	missense	probably benign	0.03
R7894:Abca9	UTSW	11	110106589	missense	possibly damaging	0.49
R8030:Abca9	UTSW	11	110120708	missense	probably benign
R8133:Abca9	UTSW	11	110127463	missense	possibly damaging	0.88
R8195:Abca9	UTSW	11	110138329	missense	probably benign	0.01
R8304:Abca9	UTSW	11	110107128	critical splice donor site	probably null
R8386:Abca9	UTSW	11	110130692	missense	probably damaging	1.00
R8390:Abca9	UTSW	11	110145630	missense	probably benign	0.01
R8692:Abca9	UTSW	11	110141583	missense	probably benign	0.11
R8721:Abca9	UTSW	11	110144289	missense	possibly damaging	0.82
R8738:Abca9	UTSW	11	110165991	start codon destroyed	probably null	1.00
R8948:Abca9	UTSW	11	110163380	critical splice acceptor site	probably null
R8950:Abca9	UTSW	11	110163380	critical splice acceptor site	probably null
R8964:Abca9	UTSW	11	110147249	nonsense	probably null
R9019:Abca9	UTSW	11	110120696	missense
R9034:Abca9	UTSW	11	110148789	missense	probably benign	0.25
R9035:Abca9	UTSW	11	110130635	missense	probably damaging	0.97
R9086:Abca9	UTSW	11	110102053	missense	probably damaging	1.00
R9199:Abca9	UTSW	11	110165944	missense	possibly damaging	0.49
R9402:Abca9	UTSW	11	110158328	missense	probably benign	0.14
R9414:Abca9	UTSW	11	110144274	missense	probably damaging	0.97
R9554:Abca9	UTSW	11	110138281	missense	probably benign
R9626:Abca9	UTSW	11	110120780	missense	probably benign	0.01
R9651:Abca9	UTSW	11	110115493	missense	probably benign	0.09
R9665:Abca9	UTSW	11	110115454	missense	probably benign
R9665:Abca9	UTSW	11	110115455	missense	probably benign	0.00
R9731:Abca9	UTSW	11	110134198	missense	probably benign
Z1176:Abca9	UTSW	11	110135375	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CAACTCAGCAGGTAAAAGCG -3'
(R):5'- CTGTACTAGTGATGGCCAGAC -3'

Sequencing Primer
(F):5'- AAAAGCGCCTGGGTTTGATCC -3'
(R):5'- TGGCCAGACCACCATACCAG -3'

Posted On

2021-08-31