Mutagenetix > Incidental Mutation

Incidental Mutation 'R7660:Abca9'

591527

Institutional Source

Beutler Lab

Gene Symbol

Abca9

Ensembl Gene

ENSMUSG00000041797

Gene Name

ATP-binding cassette, sub-family A member 9

Synonyms

D630040K07Rik

MMRRC Submission

045735-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7660 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109991575-110059022 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110006278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1276 (T1276S)

Ref Sequence

ENSEMBL: ENSMUSP00000036338 (fasta)

Gene Model

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

AlphaFold

Q8K449

Predicted Effect

probably benign
Transcript: ENSMUST00000044850
AA Change: T1276S

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

SMART Domains

Protein: ENSMUSP00000036338
Gene: ENSMUSG00000041797
AA Change: T1276S

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: 99.7%
20x: 99.3%

Validation Efficiency

100% (70/70)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427I04Rik	A	T	4: 123,754,512 (GRCm39)	H142L	possibly damaging	Het
Aadacl2fm3	A	G	3: 59,772,689 (GRCm39)	I64M	probably benign	Het
Abca13	A	G	11: 9,240,678 (GRCm39)	E847G	probably benign	Het
Abcb11	C	T	2: 69,117,938 (GRCm39)		probably null	Het
Alpk1	G	C	3: 127,474,616 (GRCm39)	H462Q	probably damaging	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Atm	C	T	9: 53,356,807 (GRCm39)	V2815M	probably benign	Het
Braf	T	C	6: 39,600,575 (GRCm39)	I681V	possibly damaging	Het
Casc3	C	G	11: 98,700,699 (GRCm39)	R4G	unknown	Het
Cilk1	G	C	9: 78,074,902 (GRCm39)	V586L	probably benign	Het
Crybg1	T	C	10: 43,874,831 (GRCm39)	D759G	probably damaging	Het
Csrp2	A	G	10: 110,773,624 (GRCm39)	N103S	probably benign	Het
Faf1	A	T	4: 109,719,034 (GRCm39)	H380L	probably damaging	Het
Farp1	G	A	14: 121,514,334 (GRCm39)	A888T	probably benign	Het
Fat4	A	T	3: 39,035,309 (GRCm39)	Q2987L	probably benign	Het
Fkbp15	T	A	4: 62,232,578 (GRCm39)	T665S	probably benign	Het
Gigyf1	T	C	5: 137,519,231 (GRCm39)	S343P	probably benign	Het
Glrx3	A	G	7: 137,060,954 (GRCm39)	Y196C	probably damaging	Het
Gm3278	T	G	14: 16,080,387 (GRCm39)	L66R	probably damaging	Het
Ifi205	A	G	1: 173,855,814 (GRCm39)	V72A	probably benign	Het
Ift140	T	G	17: 25,270,798 (GRCm39)	L708R	probably damaging	Het
Ints13	A	T	6: 146,458,836 (GRCm39)	L328M	probably benign	Het
Itfg2	A	G	6: 128,401,709 (GRCm39)	I23T	probably damaging	Het
Ldha	C	T	7: 46,499,681 (GRCm39)	P100S	unknown	Het
Lmtk2	T	A	5: 144,085,158 (GRCm39)	L210H	probably damaging	Het
Lrrc4	T	A	6: 28,829,816 (GRCm39)	I600L	probably benign	Het
Map2	C	A	1: 66,453,536 (GRCm39)	P809T	probably damaging	Het
Matn2	T	A	15: 34,423,874 (GRCm39)	C577*	probably null	Het
Matn2	A	G	15: 34,403,092 (GRCm39)	K439R	probably benign	Het
Mep1a	C	T	17: 43,789,868 (GRCm39)	G494S	probably benign	Het
Mtmr4	T	C	11: 87,495,406 (GRCm39)	F488L	probably damaging	Het
Mtus1	G	T	8: 41,469,248 (GRCm39)	T8K	probably benign	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Mybpc1	T	C	10: 88,384,716 (GRCm39)	T523A	possibly damaging	Het
Ncoa3	C	T	2: 165,911,241 (GRCm39)	P1334S	probably benign	Het
Neb	T	G	2: 52,139,451 (GRCm39)	M119L		Het
Nox4	T	C	7: 87,019,230 (GRCm39)	Y408H	probably damaging	Het
Nxpe3	C	T	16: 55,664,690 (GRCm39)	R510Q	probably damaging	Het
Or4c58	T	C	2: 89,674,787 (GRCm39)	T177A	probably benign	Het
Or4f52	C	T	2: 111,061,960 (GRCm39)	M59I	probably damaging	Het
Or5p60	A	G	7: 107,724,041 (GRCm39)	V143A	probably benign	Het
Or6c214	C	A	10: 129,590,432 (GRCm39)	E296*	probably null	Het
Or7g23	T	C	9: 19,086,804 (GRCm39)	H56R	probably benign	Het
Or8k31-ps1	A	T	2: 86,356,174 (GRCm39)	S116T	possibly damaging	Het
Paip1	C	T	13: 119,587,306 (GRCm39)	T390I	possibly damaging	Het
Pax8	T	C	2: 24,326,573 (GRCm39)	Y263C	probably benign	Het
Pcdha11	T	A	18: 37,138,904 (GRCm39)	Y178N	probably benign	Het
Pcdhga11	C	T	18: 37,890,183 (GRCm39)	T397M	possibly damaging	Het
Pdlim5	G	T	3: 141,964,946 (GRCm39)	H428N	probably damaging	Het
Pigg	G	A	5: 108,486,485 (GRCm39)	V713I	probably benign	Het
Rgs3	A	G	4: 62,619,349 (GRCm39)	D478G	possibly damaging	Het
Scgb2b11	C	T	7: 31,909,883 (GRCm39)	E68K	probably damaging	Het
Sema4b	C	A	7: 79,869,995 (GRCm39)	Q428K	probably benign	Het
Semp2l2a	A	T	8: 13,887,995 (GRCm39)	I32K	probably benign	Het
Serpine2	T	C	1: 79,780,622 (GRCm39)	T276A	probably benign	Het
Sgo2b	G	A	8: 64,393,108 (GRCm39)	H110Y	probably benign	Het
Slc12a7	T	C	13: 73,954,208 (GRCm39)	L833S	probably benign	Het
Slc6a15	T	A	10: 103,229,241 (GRCm39)		probably null	Het
Srfbp1	G	A	18: 52,608,671 (GRCm39)	V24I	probably damaging	Het
Stpg2	A	T	3: 139,407,458 (GRCm39)	N537Y	probably damaging	Het
Svep1	A	T	4: 58,087,782 (GRCm39)	S1766T	probably benign	Het
Tiam2	T	A	17: 3,532,880 (GRCm39)	M1K	probably null	Het
Tmem245	A	T	4: 56,899,170 (GRCm39)	I661K	possibly damaging	Het
Trim5	T	C	7: 103,928,569 (GRCm39)	H124R	probably damaging	Het
Trim67	T	A	8: 125,547,024 (GRCm39)	L478Q	probably damaging	Het
Triml2	A	G	8: 43,646,357 (GRCm39)	D282G	probably damaging	Het
Txndc11	T	C	16: 10,905,793 (GRCm39)	Y579C	probably damaging	Het
Ube3c	T	A	5: 29,824,629 (GRCm39)	D551E	probably damaging	Het
Vmn1r194	T	C	13: 22,428,767 (GRCm39)	V128A	not run	Het
Vmn2r130	T	A	17: 23,296,006 (GRCm39)	D725E	probably damaging	Het
Vmn2r70	T	G	7: 85,218,130 (GRCm39)	N56T	probably damaging	Het
Wdr95	T	C	5: 149,517,945 (GRCm39)	V501A	possibly damaging	Het
Zc3h8	T	C	2: 128,772,742 (GRCm39)	T249A	probably damaging	Het
Zfp54	T	C	17: 21,654,501 (GRCm39)	C332R	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
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
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'- CTGCACTTATCAAAACTATGGCTC -3'
(R):5'- GCAGCATCGTTTGACCAGTTG -3'

Sequencing Primer
(F):5'- AACTGATTGTGTGTGTGTGTGTAGC -3'
(R):5'- AGGGATGAGGGTATTTGAATGGTAC -3'

Posted On

2019-11-12