Mutagenetix > Incidental Mutation

Incidental Mutation 'R9414:Abca9'

711961

Institutional Source

Beutler Lab

Gene Symbol

Abca9

Ensembl Gene

ENSMUSG00000041797

Gene Name

ATP-binding cassette, sub-family A member 9

Synonyms

D630040K07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9414 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109991575-110059022 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110035100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 689 (I689K)

Ref Sequence

ENSEMBL: ENSMUSP00000036338 (fasta)

Gene Model

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

AlphaFold

Q8K449

Predicted Effect

probably damaging
Transcript: ENSMUST00000044850
AA Change: I689K

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000036338
Gene: ENSMUSG00000041797
AA Change: I689K

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: 99.4%
20x: 97.7%

Validation Efficiency

98% (59/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtpbp1	G	T	13: 59,609,902 (GRCm39)	T1076K	probably damaging	Het
Ammecr1l	A	G	18: 31,904,962 (GRCm39)	T68A	probably benign	Het
Arvcf	A	G	16: 18,215,580 (GRCm39)	E264G	probably damaging	Het
Cacna1b	C	T	2: 24,538,514 (GRCm39)	D1542N	probably damaging	Het
Cacna2d2	A	G	9: 107,392,395 (GRCm39)	T512A	probably damaging	Het
Crebbp	A	G	16: 3,925,356 (GRCm39)	C1213R	probably damaging	Het
Cybrd1	G	T	2: 70,948,567 (GRCm39)	R35L	probably damaging	Het
Dcaf1	G	A	9: 106,757,158 (GRCm39)	W1412*	probably null	Het
Eif4e	T	A	3: 138,253,495 (GRCm39)	D67E	probably benign	Het
Epb41	G	A	4: 131,702,162 (GRCm39)	T491I	probably damaging	Het
Fez1	G	A	9: 36,779,247 (GRCm39)	S308N	probably benign	Het
Fgfr3	A	G	5: 33,887,298 (GRCm39)	S206G	possibly damaging	Het
Flcn	A	T	11: 59,684,998 (GRCm39)	N484K	possibly damaging	Het
Gdap2	T	C	3: 100,090,071 (GRCm39)		probably null	Het
Gfpt1	T	A	6: 87,062,265 (GRCm39)	D541E	probably benign	Het
Gm5089	A	G	14: 122,673,604 (GRCm39)	F39S	unknown	Het
Gm7694	C	T	1: 170,130,173 (GRCm39)	G75D	probably benign	Het
Gpr15	A	G	16: 58,538,516 (GRCm39)	L191S	probably benign	Het
Hmcn1	T	G	1: 150,545,187 (GRCm39)	T2807P	probably damaging	Het
Iqgap2	T	C	13: 95,783,349 (GRCm39)	T1276A		Het
Itgae	G	T	11: 73,002,629 (GRCm39)	A129S	possibly damaging	Het
Kcns1	T	C	2: 164,010,378 (GRCm39)	E127G	probably damaging	Het
Kmt2b	T	C	7: 30,282,307 (GRCm39)	E1118G	probably damaging	Het
Lair1	T	C	7: 4,013,819 (GRCm39)	I143V	probably benign	Het
Lcmt2	T	C	2: 120,970,621 (GRCm39)	D154G	possibly damaging	Het
Ly9	T	C	1: 171,427,275 (GRCm39)	T427A	probably damaging	Het
Man2c1	A	G	9: 57,044,030 (GRCm39)	T281A	possibly damaging	Het
Map4k2	T	C	19: 6,394,515 (GRCm39)	F332L	probably benign	Het
Meak7	A	T	8: 120,495,081 (GRCm39)	S226T	probably benign	Het
Mmp10	A	T	9: 7,502,489 (GRCm39)	D32V	probably benign	Het
Mroh2a	C	T	1: 88,179,096 (GRCm39)	R1110W	probably benign	Het
Naip2	T	A	13: 100,298,243 (GRCm39)	S598C	probably damaging	Het
Npnt	T	C	3: 132,612,116 (GRCm39)	N300S	probably benign	Het
Or13a20	C	A	7: 140,232,263 (GRCm39)	R124S	probably damaging	Het
Or5b95	T	C	19: 12,657,712 (GRCm39)	V80A	probably benign	Het
Or5k15	G	A	16: 58,710,565 (GRCm39)	T6I	probably benign	Het
Pacsin1	T	C	17: 27,926,985 (GRCm39)	V387A	probably damaging	Het
Pald1	G	T	10: 61,178,932 (GRCm39)	A489E	probably benign	Het
Pcnx1	G	T	12: 81,964,978 (GRCm39)	G382W	probably damaging	Het
Pde6b	T	A	5: 108,567,592 (GRCm39)	M294K	possibly damaging	Het
Phf20	T	C	2: 156,136,167 (GRCm39)	V662A	probably benign	Het
Plcg1	T	C	2: 160,603,276 (GRCm39)	I1149T	possibly damaging	Het
Prdx2	T	C	8: 85,697,196 (GRCm39)	S79P	probably damaging	Het
Rab19	T	C	6: 39,360,855 (GRCm39)	M1T	probably null	Het
Retn	T	G	8: 3,706,908 (GRCm39)	F44C	probably damaging	Het
Rp1	A	T	1: 4,313,841 (GRCm39)	W507R	unknown	Het
Rsf1	A	C	7: 97,313,765 (GRCm39)		probably null	Het
Ryr3	C	T	2: 112,501,011 (GRCm39)	E3561K	possibly damaging	Het
Scaf1	T	A	7: 44,652,716 (GRCm39)	Y1220F	unknown	Het
Sowahc	A	G	10: 59,058,491 (GRCm39)	K209R	probably benign	Het
Supt20	T	A	3: 54,610,504 (GRCm39)	I103N	probably damaging	Het
Tenm4	A	G	7: 96,545,367 (GRCm39)	E2498G	probably benign	Het
Tet1	T	C	10: 62,674,935 (GRCm39)	N1047S	probably benign	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tub	T	A	7: 108,626,265 (GRCm39)	I267N	probably damaging	Het
Uggt1	T	C	1: 36,223,507 (GRCm39)	E594G	probably benign	Het
Vmn2r104	T	A	17: 20,250,250 (GRCm39)	I674F	probably damaging	Het
Zbed6	T	C	1: 133,585,015 (GRCm39)	D774G	probably damaging	Het
Zcchc4	T	C	5: 52,953,964 (GRCm39)	S215P	probably benign	Het
Zfc3h1	T	G	10: 115,249,916 (GRCm39)	S1177A	possibly damaging	Het
Zfp646	G	A	7: 127,481,050 (GRCm39)	A1076T	probably damaging	Het
Zfp735	T	A	11: 73,602,023 (GRCm39)	Y322*	probably null	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
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
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'- AACATGTCCATTGGAGCCAAC -3'
(R):5'- GTCAGTAAGCTTGAAAGACACTG -3'

Sequencing Primer
(F):5'- CATGTCCATTGGAGCCAACTATATAG -3'
(R):5'- AAGTGAACCTAACTCGTCATTTCTG -3'

Posted On

2022-05-16