Mutagenetix > Incidental Mutation

Incidental Mutation 'R5093:Abca9'

387945

Institutional Source

Beutler Lab

Gene Symbol

Abca9

Ensembl Gene

ENSMUSG00000041797

Gene Name

ATP-binding cassette, sub-family A member 9

Synonyms

D630040K07Rik

MMRRC Submission

042682-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5093 (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 110032358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 753 (L753Q)

Ref Sequence

ENSEMBL: ENSMUSP00000036338 (fasta)

Gene Model

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

AlphaFold

Q8K449

Predicted Effect

probably damaging
Transcript: ENSMUST00000044850
AA Change: L753Q

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000036338
Gene: ENSMUSG00000041797
AA Change: L753Q

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

99% (90/91)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	C	T	13: 119,610,573 (GRCm39)		probably benign	Het
Acvrl1	A	G	15: 101,032,628 (GRCm39)		probably null	Het
Adgrv1	A	T	13: 81,740,704 (GRCm39)	N141K	probably damaging	Het
Aftph	C	T	11: 20,659,619 (GRCm39)		probably null	Het
Aifm1	C	T	X: 47,571,637 (GRCm39)	G371S	probably benign	Het
Aldh3b2	A	G	19: 4,029,433 (GRCm39)	M269V	probably benign	Het
Ankrd44	T	C	1: 54,802,877 (GRCm39)	Y207C	probably damaging	Het
Arhgap15	G	T	2: 44,212,767 (GRCm39)	M412I	probably damaging	Het
Auts2	A	C	5: 131,468,296 (GRCm39)	L783R	probably damaging	Het
Baiap2l1	A	T	5: 144,215,363 (GRCm39)	Y381N	probably damaging	Het
Baiap3	T	C	17: 25,469,243 (GRCm39)	D180G	probably damaging	Het
Cant1	T	C	11: 118,302,038 (GRCm39)	Y93C	probably damaging	Het
Catsperg2	T	C	7: 29,416,423 (GRCm39)	S330G	probably benign	Het
Ccdc73	A	T	2: 104,848,111 (GRCm39)		probably benign	Het
Cdc5l	A	T	17: 45,703,967 (GRCm39)	F752L	possibly damaging	Het
Celsr2	G	T	3: 108,320,689 (GRCm39)	H708N	possibly damaging	Het
Cep170	T	A	1: 176,596,896 (GRCm39)	K487M	possibly damaging	Het
Cerkl	A	T	2: 79,163,867 (GRCm39)	N66K	probably damaging	Het
Cilk1	G	A	9: 78,047,303 (GRCm39)	V68I	probably benign	Het
Clec11a	C	T	7: 43,954,150 (GRCm39)	A268T	probably damaging	Het
Ctnna2	C	A	6: 77,091,912 (GRCm39)		probably null	Het
Diaph3	C	A	14: 87,222,236 (GRCm39)	R416L	probably damaging	Het
Dnmbp	T	A	19: 43,838,315 (GRCm39)	N1170I	probably damaging	Het
Erbb2	G	T	11: 98,318,279 (GRCm39)	C505F	probably damaging	Het
Ercc6	T	A	14: 32,289,479 (GRCm39)	F904L	probably damaging	Het
Exo5	C	T	4: 120,779,514 (GRCm39)	G117D	probably damaging	Het
F2	CAGAAAG	CAG	2: 91,465,302 (GRCm39)		probably benign	Het
Fbxl5	A	G	5: 43,930,896 (GRCm39)	Y64H	probably damaging	Het
Gabra4	T	A	5: 71,798,207 (GRCm39)	M207L	probably damaging	Het
Galnt15	T	C	14: 31,771,786 (GRCm39)	L277P	probably damaging	Het
Gclm	T	C	3: 122,049,261 (GRCm39)		probably null	Het
Gm5493	T	A	17: 22,966,201 (GRCm39)	C29S	possibly damaging	Het
Grik3	A	G	4: 125,564,382 (GRCm39)	T455A	probably benign	Het
Grm3	A	G	5: 9,639,766 (GRCm39)	V93A	probably benign	Het
Hdgfl2	C	T	17: 56,406,217 (GRCm39)	A535V	possibly damaging	Het
Hfm1	A	T	5: 107,049,597 (GRCm39)	S455T	probably damaging	Het
Hmcn1	T	A	1: 150,613,007 (GRCm39)	D1424V	probably benign	Het
Hsd3b6	C	T	3: 98,715,120 (GRCm39)	V91I	probably benign	Het
Igdcc4	G	A	9: 65,030,039 (GRCm39)	S363N	possibly damaging	Het
Intu	T	C	3: 40,647,347 (GRCm39)	V740A	probably benign	Het
Itga2	C	T	13: 114,992,717 (GRCm39)	V838I	probably benign	Het
Kif9	A	G	9: 110,318,965 (GRCm39)	E143G	probably damaging	Het
Kmt2c	T	A	5: 25,614,205 (GRCm39)	I172F	probably benign	Het
Kmt2d	G	A	15: 98,754,043 (GRCm39)	R21W	probably damaging	Het
Mdh1b	A	T	1: 63,750,620 (GRCm39)	D449E	probably benign	Het
Meis1	T	C	11: 18,831,785 (GRCm39)	I418V	probably benign	Het
Nags	T	A	11: 102,037,395 (GRCm39)	M162K	probably damaging	Het
Nufip1	A	G	14: 76,348,413 (GRCm39)	D14G	probably benign	Het
Or2l13	T	A	16: 19,306,227 (GRCm39)	I213N	probably damaging	Het
Or2n1c	A	C	17: 38,519,208 (GRCm39)	E24A	possibly damaging	Het
Or7g28	T	G	9: 19,272,274 (GRCm39)	I126L	probably damaging	Het
Osmr	A	C	15: 6,850,560 (GRCm39)	V681G	probably damaging	Het
Paxip1	G	T	5: 27,971,282 (GRCm39)	Q356K	unknown	Het
Pcdhac1	T	A	18: 37,223,595 (GRCm39)	F136Y	probably damaging	Het
Pla2g6	A	G	15: 79,171,328 (GRCm39)	V699A	probably benign	Het
Plcb3	A	T	19: 6,943,578 (GRCm39)	V107E	probably damaging	Het
Plch1	T	A	3: 63,681,136 (GRCm39)	I164F	probably damaging	Het
Plpp3	A	T	4: 105,052,077 (GRCm39)	I73F	probably damaging	Het
Plscr5	G	A	9: 92,080,574 (GRCm39)	R20Q	probably benign	Het
Prdm10	G	A	9: 31,252,779 (GRCm39)	R504Q	probably damaging	Het
Prss58	T	C	6: 40,874,751 (GRCm39)	Y30C	probably damaging	Het
Psg19	T	A	7: 18,530,894 (GRCm39)	T87S	probably benign	Het
Ptpn22	T	G	3: 103,789,418 (GRCm39)	M294R	probably benign	Het
Rai1	T	A	11: 60,079,482 (GRCm39)	M1182K	probably benign	Het
Sez6	T	A	11: 77,867,388 (GRCm39)	V795D	possibly damaging	Het
Shcbp1	A	G	8: 4,789,214 (GRCm39)	V535A	possibly damaging	Het
Skint9	A	G	4: 112,246,447 (GRCm39)	Y222H	probably benign	Het
Slc13a3	T	A	2: 165,253,816 (GRCm39)	I446F	probably damaging	Het
Slc2a3	C	T	6: 122,714,196 (GRCm39)	R57H	probably damaging	Het
Slc44a4	A	G	17: 35,140,219 (GRCm39)	D208G	probably benign	Het
Spata31d1b	A	T	13: 59,863,838 (GRCm39)	N329Y	possibly damaging	Het
Strbp	C	T	2: 37,517,499 (GRCm39)	R192K	probably damaging	Het
Tctn3	A	T	19: 40,600,548 (GRCm39)	L14Q	probably damaging	Het
Tenm2	T	A	11: 36,834,989 (GRCm39)	D2V	probably damaging	Het
Tln2	T	G	9: 67,241,596 (GRCm39)	K1003T	probably benign	Het
Tmem63b	T	C	17: 45,971,800 (GRCm39)	E805G	probably damaging	Het
Trhr	A	T	15: 44,060,980 (GRCm39)	N167Y	probably damaging	Het
Trpc2	A	G	7: 101,744,390 (GRCm39)	R721G	probably benign	Het
Ttn	C	A	2: 76,701,267 (GRCm39)		probably benign	Het
Wdr91	A	G	6: 34,869,288 (GRCm39)	I412T	probably damaging	Het
Zcchc4	T	A	5: 52,953,952 (GRCm39)	S211T	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
R5079:Abca9	UTSW	11	110,036,395 (GRCm39)	missense	possibly damaging	0.47
R5082:Abca9	UTSW	11	110,022,694 (GRCm39)	missense	probably benign
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'- GACACAGTCCCTCTACGCTTTG -3'
(R):5'- GTCTCATACATATTCACGAAGTAGC -3'

Sequencing Primer
(F):5'- ACAGTCCCTCTACGCTTTGTTGATAC -3'
(R):5'- TTCACGAAGTAGCAAACATATACTAC -3'

Posted On

2016-06-06