Incidental Mutation 'R2015:Abca9'
ID 222873
Institutional Source Beutler Lab
Gene Symbol Abca9
Ensembl Gene ENSMUSG00000041797
Gene Name ATP-binding cassette, sub-family A member 9
Synonyms D630040K07Rik
MMRRC Submission 040024-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2015 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 109991575-110059022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 110022672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1022 (M1022K)
Ref Sequence ENSEMBL: ENSMUSP00000036338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044850]
AlphaFold Q8K449
Predicted Effect probably benign
Transcript: ENSMUST00000044850
AA Change: M1022K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000036338
Gene: ENSMUSG00000041797
AA Change: M1022K

DomainStartEndE-ValueType
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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd4 T A 14: 54,500,289 (GRCm39) H74Q probably damaging Het
Actg1 A G 11: 120,237,636 (GRCm39) S49P possibly damaging Het
Adcy8 C T 15: 64,639,727 (GRCm39) G678S probably benign Het
Aire T C 10: 77,878,792 (GRCm39) D85G probably damaging Het
Akr1c18 T A 13: 4,195,308 (GRCm39) D50V probably damaging Het
Ankrd13a C A 5: 114,930,170 (GRCm39) A185E probably damaging Het
Apc A G 18: 34,448,644 (GRCm39) I1813V probably damaging Het
Armc8 A T 9: 99,365,158 (GRCm39) C661* probably null Het
Bbs10 C T 10: 111,136,716 (GRCm39) Q610* probably null Het
Blm T C 7: 80,152,147 (GRCm39) E600G probably damaging Het
Bpifb9a T C 2: 154,110,120 (GRCm39) probably null Het
Cdk14 T C 5: 5,430,082 (GRCm39) K15R probably benign Het
Cdr1 A G X: 60,228,420 (GRCm39) F249L probably benign Het
Cep250 A C 2: 155,823,373 (GRCm39) H1009P probably damaging Het
Cfap97d1 C A 11: 101,878,044 (GRCm39) H35Q probably damaging Het
Clasp2 A G 9: 113,740,568 (GRCm39) T495A possibly damaging Het
Col19a1 C G 1: 24,598,834 (GRCm39) G53A unknown Het
Cpne1 G A 2: 155,920,308 (GRCm39) R166C probably damaging Het
Dtx3l G A 16: 35,756,797 (GRCm39) H129Y probably benign Het
Ercc3 A G 18: 32,381,482 (GRCm39) T433A probably benign Het
Gm9936 T A 5: 114,995,482 (GRCm39) probably benign Het
Grina T C 15: 76,132,734 (GRCm39) V167A probably damaging Het
H2ac25 T A 11: 58,845,754 (GRCm39) L64Q probably damaging Het
Hcfc2 A G 10: 82,574,814 (GRCm39) N618D probably benign Het
Herpud1 T C 8: 95,118,834 (GRCm39) V196A probably benign Het
Hlcs A G 16: 94,063,599 (GRCm39) V487A probably benign Het
Hspa9 A T 18: 35,079,701 (GRCm39) Y243N probably damaging Het
Igll1 A G 16: 16,681,639 (GRCm39) S39P probably benign Het
Kdm5a T C 6: 120,408,951 (GRCm39) S1545P probably benign Het
Klra8 C A 6: 130,092,536 (GRCm39) C255F probably damaging Het
Krtap4-6 A T 11: 99,556,398 (GRCm39) C110S unknown Het
Lef1 T A 3: 130,905,236 (GRCm39) I39N probably damaging Het
Lnpep G A 17: 17,799,325 (GRCm39) T110I probably damaging Het
Lrp1 T A 10: 127,376,563 (GRCm39) T4282S probably benign Het
Lrp6 A G 6: 134,457,337 (GRCm39) probably null Het
Ly6g5b A C 17: 35,333,654 (GRCm39) S53A possibly damaging Het
M6pr T G 6: 122,290,332 (GRCm39) N98K probably damaging Het
Mal2 T C 15: 54,464,136 (GRCm39) *176Q probably null Het
Mansc1 T C 6: 134,587,274 (GRCm39) D301G possibly damaging Het
Marchf1 C A 8: 66,574,473 (GRCm39) N11K probably damaging Het
Mast3 T A 8: 71,240,007 (GRCm39) I338F probably benign Het
Mcm3 A G 1: 20,873,804 (GRCm39) L772P probably damaging Het
Mib2 C T 4: 155,742,337 (GRCm39) G176D probably damaging Het
Mier2 A T 10: 79,377,036 (GRCm39) probably null Het
Mogs C T 6: 83,094,631 (GRCm39) R483* probably null Het
Msl2 G T 9: 100,957,304 (GRCm39) probably benign Het
Naa16 A T 14: 79,582,499 (GRCm39) M530K probably damaging Het
Nde1 A T 16: 13,987,321 (GRCm39) probably benign Het
Ndufb10 T C 17: 24,941,503 (GRCm39) probably null Het
Nhsl1 A T 10: 18,387,340 (GRCm39) R205W probably damaging Het
Npffr2 T A 5: 89,730,751 (GRCm39) I227N probably damaging Het
Nup210l T A 3: 90,092,739 (GRCm39) L1231Q probably damaging Het
Or2f1 A G 6: 42,721,784 (GRCm39) E271G probably damaging Het
Or7a39 T C 10: 78,715,222 (GRCm39) I72T possibly damaging Het
Pclo C A 5: 14,571,515 (GRCm39) P300Q probably damaging Het
Pik3c2a T A 7: 115,950,166 (GRCm39) probably null Het
Plekha5 T A 6: 140,480,290 (GRCm39) probably null Het
Pls1 A G 9: 95,643,418 (GRCm39) V527A possibly damaging Het
Ppfia2 T C 10: 106,310,538 (GRCm39) M15T probably benign Het
Prkd2 T A 7: 16,581,602 (GRCm39) C152* probably null Het
Ptprq T G 10: 107,503,283 (GRCm39) K792Q probably damaging Het
Pttg1ip2 T A 5: 5,505,964 (GRCm39) I106L probably benign Het
Rbbp8 T C 18: 11,853,681 (GRCm39) M296T probably benign Het
Rfc3 T C 5: 151,571,003 (GRCm39) probably null Het
Rnf17 A G 14: 56,724,426 (GRCm39) N1090S probably benign Het
Sash1 A T 10: 8,605,177 (GRCm39) V1071D probably benign Het
Sdsl G A 5: 120,601,218 (GRCm39) T18M probably damaging Het
Sepsecs T A 5: 52,804,966 (GRCm39) Q365L probably benign Het
Sgta A T 10: 80,887,130 (GRCm39) V45E probably damaging Het
Slc25a46 A T 18: 31,742,778 (GRCm39) H29Q probably benign Het
Slc2a8 A C 2: 32,871,392 (GRCm39) V136G probably benign Het
Smg7 A T 1: 152,736,259 (GRCm39) N166K probably damaging Het
Spata21 C T 4: 140,834,640 (GRCm39) Q505* probably null Het
Strn4 T C 7: 16,566,953 (GRCm39) S458P possibly damaging Het
Tbc1d22a C T 15: 86,183,885 (GRCm39) T248M probably damaging Het
Trabd T A 15: 88,968,929 (GRCm39) M149K possibly damaging Het
Trpv3 A T 11: 73,170,653 (GRCm39) N178Y probably damaging Het
Try5 C T 6: 41,291,585 (GRCm39) probably null Het
Tsg101 C T 7: 46,558,652 (GRCm39) probably null Het
Ube3b A G 5: 114,549,210 (GRCm39) E738G probably damaging Het
Unc13d A G 11: 115,959,581 (GRCm39) S631P probably damaging Het
Unc5d T C 8: 29,249,007 (GRCm39) T297A probably damaging Het
Usp18 A T 6: 121,245,509 (GRCm39) E1V probably damaging Het
Vapb C A 2: 173,613,391 (GRCm39) P97T probably benign Het
Vmn1r33 T A 6: 66,589,356 (GRCm39) D66V probably benign Het
Vmn2r19 T A 6: 123,292,954 (GRCm39) M332K probably benign Het
Vmn2r71 T A 7: 85,269,845 (GRCm39) M452K probably benign Het
Vps13b T C 15: 35,607,288 (GRCm39) S1074P probably damaging Het
Vwde C A 6: 13,208,337 (GRCm39) G182C possibly damaging Het
Wdfy3 A C 5: 102,008,352 (GRCm39) S2778A probably null Het
Zbtb2 T A 10: 4,319,757 (GRCm39) I90F possibly damaging Het
Zfp518b C A 5: 38,829,345 (GRCm39) V887F probably benign Het
Zfp790 A G 7: 29,528,286 (GRCm39) T324A probably benign Het
Zup1 A G 10: 33,805,820 (GRCm39) V437A possibly damaging Het
Other mutations in Abca9
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AAAGCTGTCACTTGCTACTGG -3'
(R):5'- GCTTTAATCTTAGAGTAAGAGACGGG -3'

Sequencing Primer
(F):5'- GACAGCCTATTATTGAAATGCTCC -3'
(R):5'- TAAGAGACGGGAGCTCTGTTCTAC -3'
Posted On 2014-08-25