Mutagenetix > Incidental Mutation

Incidental Mutation 'R5872:Abca9'

455264

Institutional Source

Beutler Lab

Gene Symbol

Abca9

Ensembl Gene

ENSMUSG00000041797

Gene Name

ATP-binding cassette, sub-family A member 9

Synonyms

D630040K07Rik

MMRRC Submission

044079-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5872 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109991575-110059022 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 110007902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 1232 (R1232S)

Ref Sequence

ENSEMBL: ENSMUSP00000036338 (fasta)

Gene Model

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

AlphaFold

Q8K449

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044850
AA Change: R1232S

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000036338
Gene: ENSMUSG00000041797
AA Change: R1232S

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: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.6%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,382,309 (GRCm39)	S1219P	possibly damaging	Het
A2ml1	A	G	6: 128,538,489 (GRCm39)	Y644H	probably damaging	Het
Acsf2	C	T	11: 94,463,975 (GRCm39)	V70M	probably benign	Het
Ampd1	A	G	3: 102,986,446 (GRCm39)	I42V	probably benign	Het
Arhgap10	A	G	8: 78,071,267 (GRCm39)		probably null	Het
Atp1a4	A	T	1: 172,071,975 (GRCm39)	L432Q	probably damaging	Het
Bbs12	T	A	3: 37,374,598 (GRCm39)	C349S	possibly damaging	Het
Bnc2	A	G	4: 84,211,007 (GRCm39)	V479A	possibly damaging	Het
Cald1	A	T	6: 34,748,043 (GRCm39)	K761*	probably null	Het
Cd177	C	T	7: 24,451,688 (GRCm39)	G443R	probably null	Het
Cdc42bpb	T	C	12: 111,292,410 (GRCm39)	D375G	probably damaging	Het
Chsy3	T	C	18: 59,309,268 (GRCm39)	Y174H	probably damaging	Het
Cmya5	T	C	13: 93,233,943 (GRCm39)	M382V	probably benign	Het
Col1a2	G	A	6: 4,531,926 (GRCm39)	S782N	unknown	Het
Crtac1	C	T	19: 42,297,629 (GRCm39)		probably null	Het
Csmd3	T	A	15: 47,445,923 (GRCm39)	D3683V	probably damaging	Het
Ctrc	A	G	4: 141,572,354 (GRCm39)	L62P	probably damaging	Het
Cyp3a57	A	T	5: 145,307,867 (GRCm39)	K208*	probably null	Het
Dnaaf2	A	T	12: 69,244,122 (GRCm39)	L313Q	probably damaging	Het
Dtl	A	G	1: 191,278,680 (GRCm39)	L394P	probably benign	Het
Ehhadh	T	C	16: 21,585,305 (GRCm39)	E192G	probably benign	Het
Fads2	T	C	19: 10,059,997 (GRCm39)	I226V	probably benign	Het
Fat2	T	C	11: 55,161,208 (GRCm39)	E3174G	probably damaging	Het
Galnt14	C	T	17: 73,881,826 (GRCm39)	R91Q	probably damaging	Het
Hdhd5	G	T	6: 120,487,252 (GRCm39)	D368E	probably benign	Het
Hk3	T	A	13: 55,158,617 (GRCm39)	I528F	probably damaging	Het
Il10ra	A	C	9: 45,166,951 (GRCm39)	S533R	possibly damaging	Het
Itpr3	G	T	17: 27,305,950 (GRCm39)	K169N	probably benign	Het
Lrrc17	A	G	5: 21,780,264 (GRCm39)	T413A	probably benign	Het
Mcm2	C	T	6: 88,861,053 (GRCm39)	D882N	probably benign	Het
Met	T	C	6: 17,562,197 (GRCm39)	V1186A	probably damaging	Het
Msh5	C	T	17: 35,248,628 (GRCm39)		probably null	Het
Nav3	T	C	10: 109,600,648 (GRCm39)	I1326M	probably damaging	Het
Nek10	A	G	14: 14,850,896 (GRCm38)	I314V	probably benign	Het
Or10g1	A	C	14: 52,648,225 (GRCm39)	F35V	probably damaging	Het
Or8b53	T	A	9: 38,667,412 (GRCm39)	Y143N	probably benign	Het
Pim1	A	G	17: 29,712,720 (GRCm39)	E211G	probably damaging	Het
Plaat1	T	A	16: 29,039,189 (GRCm39)	Y90N	probably benign	Het
Ppp1r12b	A	T	1: 134,704,144 (GRCm39)	D903E	probably benign	Het
Ptpn14	T	C	1: 189,583,229 (GRCm39)	L692P	probably benign	Het
Ptprt	A	G	2: 161,977,138 (GRCm39)	C387R	probably damaging	Het
Qrfprl	A	G	6: 65,418,369 (GRCm39)		probably benign	Het
Scarb1	A	G	5: 125,381,341 (GRCm39)	Y68H	possibly damaging	Het
Shisa6	T	A	11: 66,108,800 (GRCm39)	D359V	probably damaging	Het
Shprh	T	C	10: 11,063,817 (GRCm39)	S1297P	probably damaging	Het
Sik1	T	C	17: 32,069,125 (GRCm39)	D250G	probably damaging	Het
Slamf7	A	G	1: 171,466,635 (GRCm39)	L190S	probably damaging	Het
Slc22a3	G	A	17: 12,652,355 (GRCm39)	P423L	probably damaging	Het
Slc35e2	A	T	4: 155,697,137 (GRCm39)	E217V	probably damaging	Het
Spocd1	A	T	4: 129,850,254 (GRCm39)	N760I	probably damaging	Het
Tas2r136	G	T	6: 132,754,294 (GRCm39)	P278T	possibly damaging	Het
Tchhl1	A	T	3: 93,377,836 (GRCm39)	Q180L	probably benign	Het
Tmem151b	T	A	17: 45,858,010 (GRCm39)	T79S	probably benign	Het
Tomm70a	T	A	16: 56,965,105 (GRCm39)	C430S	probably benign	Het
Trbv16	T	A	6: 41,128,936 (GRCm39)	L40Q	probably damaging	Het
Trmt1l	T	G	1: 151,316,594 (GRCm39)	I32S	probably damaging	Het
Ubr4	A	G	4: 139,152,641 (GRCm39)	T2011A	probably damaging	Het
Urb1	C	T	16: 90,569,652 (GRCm39)	W1358*	probably null	Het
Usp31	T	G	7: 121,248,698 (GRCm39)	H915P	probably benign	Het
Vmn2r10	A	T	5: 109,151,377 (GRCm39)	M79K	possibly damaging	Het
Vmn2r14	A	G	5: 109,369,222 (GRCm39)	I117T	probably benign	Het
Vps13b	A	G	15: 35,869,497 (GRCm39)	H2667R	possibly damaging	Het
Vwa5b1	G	A	4: 138,305,962 (GRCm39)	T912M	possibly damaging	Het
Zfp709	G	A	8: 72,643,363 (GRCm39)	C264Y	probably benign	Het
Zkscan5	A	G	5: 145,156,898 (GRCm39)	I467V	probably benign	Het
Zxdc	A	T	6: 90,347,281 (GRCm39)	D214V	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
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'- TGTGCCAGTAGAATTCCTTCTC -3'
(R):5'- GCAATTTTGTAGATGGTCAGTCTC -3'

Sequencing Primer
(F):5'- GACGTCTTATGTACACTAATGTTGC -3'
(R):5'- GGTCAGTCTCATTAAATTAACTTC -3'

Posted On

2017-02-10