Incidental Mutation 'R5436:Abca9'
ID 428371
Institutional Source Beutler Lab
Gene Symbol Abca9
Ensembl Gene ENSMUSG00000041797
Gene Name ATP-binding cassette, sub-family A member 9
Synonyms D630040K07Rik
MMRRC Submission 043001-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5436 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 109991575-110059022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 110025062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 994 (L994F)
Ref Sequence ENSEMBL: ENSMUSP00000036338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044850]
AlphaFold Q8K449
Predicted Effect probably damaging
Transcript: ENSMUST00000044850
AA Change: L994F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036338
Gene: ENSMUSG00000041797
AA Change: L994F

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
Meta Mutation Damage Score 0.1941 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 99% (106/107)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449A18Rik T C 3: 59,754,114 (GRCm39) noncoding transcript Het
Abl2 A T 1: 156,457,450 (GRCm39) S239C probably damaging Het
Acsl5 T A 19: 55,267,997 (GRCm39) probably null Het
Aff1 C T 5: 103,931,736 (GRCm39) T126I probably damaging Het
Amtn T C 5: 88,529,485 (GRCm39) L107P probably damaging Het
Ankrd45 A G 1: 160,986,682 (GRCm39) probably benign Het
Arl6ip5 G A 6: 97,187,887 (GRCm39) V36I probably damaging Het
Ascc3 T A 10: 50,535,079 (GRCm39) D657E probably damaging Het
Ascl1 T A 10: 87,328,808 (GRCm39) Q48L unknown Het
Asic4 T A 1: 75,427,963 (GRCm39) V163E probably benign Het
Atm A T 9: 53,371,104 (GRCm39) M2245K probably benign Het
Barx2 T G 9: 31,824,285 (GRCm39) T35P probably damaging Het
Bdh1 C T 16: 31,275,475 (GRCm39) R235C probably damaging Het
C8b T A 4: 104,657,546 (GRCm39) Y404* probably null Het
Car5a A G 8: 122,643,981 (GRCm39) probably benign Het
Ccdc13 T C 9: 121,628,109 (GRCm39) I169M probably benign Het
Cd163 A T 6: 124,304,923 (GRCm39) D1100V probably benign Het
Cimap2 A T 4: 106,467,690 (GRCm39) H315Q probably benign Het
Cntfr T C 4: 41,663,322 (GRCm39) N162D probably damaging Het
Cops3 T G 11: 59,715,171 (GRCm39) D289A probably damaging Het
Crbn A T 6: 106,772,861 (GRCm39) S42R probably damaging Het
Cth T A 3: 157,600,463 (GRCm39) H397L probably benign Het
Dact2 A G 17: 14,416,010 (GRCm39) L730P probably damaging Het
Dhx37 C T 5: 125,506,867 (GRCm39) G210R probably benign Het
Dnaaf9 C A 2: 130,606,419 (GRCm39) K415N probably benign Het
Dnah1 T C 14: 31,038,704 (GRCm39) I126V probably benign Het
Dnttip2 T C 3: 122,072,418 (GRCm39) I566T probably damaging Het
Ehbp1l1 G T 19: 5,766,276 (GRCm39) R412S possibly damaging Het
Fam110b A C 4: 5,799,104 (GRCm39) Q174P probably benign Het
Fam149a A T 8: 45,801,508 (GRCm39) S457T probably benign Het
Fat3 A C 9: 15,871,810 (GRCm39) V3527G probably benign Het
Fat4 A G 3: 38,945,495 (GRCm39) M1463V probably benign Het
Gak T A 5: 108,740,218 (GRCm39) I566F possibly damaging Het
Gdf10 T A 14: 33,654,213 (GRCm39) I240N probably damaging Het
Gprc6a T A 10: 51,502,798 (GRCm39) H355L probably benign Het
Gxylt1 T C 15: 93,145,780 (GRCm39) K338R probably damaging Het
Hexim2 A T 11: 103,029,095 (GRCm39) E49V probably null Het
Hfm1 T C 5: 107,040,638 (GRCm39) D709G possibly damaging Het
Ighv1-49 T C 12: 115,019,081 (GRCm39) K19R probably damaging Het
Il17a T A 1: 20,803,870 (GRCm39) Y88* probably null Het
Iqsec1 A T 6: 90,822,343 (GRCm39) probably benign Het
Itih2 T C 2: 10,110,007 (GRCm39) D582G probably benign Het
Klc3 T C 7: 19,131,884 (GRCm39) probably null Het
Larp4 T A 15: 99,883,995 (GRCm39) N78K probably damaging Het
Larp4b A G 13: 9,218,936 (GRCm39) D526G possibly damaging Het
Limch1 T C 5: 67,131,909 (GRCm39) V133A possibly damaging Het
Lmbr1l G A 15: 98,802,672 (GRCm39) R426C probably damaging Het
Lox T A 18: 52,662,175 (GRCm39) D76V probably benign Het
Lrrc8d T A 5: 105,960,418 (GRCm39) I276N probably damaging Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Marchf10 A T 11: 105,292,991 (GRCm39) Y139N possibly damaging Het
Mrc1 T G 2: 14,271,326 (GRCm39) I410S probably damaging Het
Mrto4 A T 4: 139,075,276 (GRCm39) C176S probably damaging Het
Mtch1 G T 17: 29,566,564 (GRCm39) D66E probably benign Het
Nbas T G 12: 13,424,812 (GRCm39) L1017R probably damaging Het
Nherf4 A G 9: 44,159,652 (GRCm39) V448A possibly damaging Het
Nim1k A G 13: 120,189,065 (GRCm39) probably benign Het
Nlrp6 T A 7: 140,502,630 (GRCm39) Y245* probably null Het
Or11g7 T G 14: 50,691,184 (GRCm39) V225G probably damaging Het
Or2t43 T A 11: 58,457,763 (GRCm39) H136L probably benign Het
Or4c3 T A 2: 89,852,009 (GRCm39) M134L probably benign Het
Or51q1 A T 7: 103,628,473 (GRCm39) I25F probably benign Het
Or5h24 C T 16: 58,919,182 (GRCm39) V58I unknown Het
Or8b1 A C 9: 38,399,835 (GRCm39) D170A probably benign Het
Pcare A T 17: 72,057,837 (GRCm39) S613R probably damaging Het
Pcnx1 G T 12: 81,907,180 (GRCm39) G12V probably damaging Het
Pkp1 T A 1: 135,846,656 (GRCm39) K32M probably damaging Het
Poc5 T C 13: 96,533,321 (GRCm39) W150R probably damaging Het
Ppp1r16b T A 2: 158,599,253 (GRCm39) probably benign Het
Prune2 T A 19: 16,998,007 (GRCm39) M248K probably damaging Het
Rb1 A T 14: 73,450,580 (GRCm39) probably null Het
Rhod A G 19: 4,476,615 (GRCm39) C169R probably benign Het
Rif1 T C 2: 52,010,983 (GRCm39) probably benign Het
Rnpc3 G A 3: 113,418,648 (GRCm39) A100V probably damaging Het
Rsf1 GCGGC GCGGCGGCGTCGGC 7: 97,229,138 (GRCm39) probably benign Het
Scnn1a A T 6: 125,319,985 (GRCm39) D528V possibly damaging Het
Sdhaf3 C A 6: 7,038,855 (GRCm39) T59K probably benign Het
Sec31a C A 5: 100,511,698 (GRCm39) A330S probably damaging Het
Sgk3 A G 1: 9,952,097 (GRCm39) D241G probably damaging Het
Skint6 T G 4: 112,953,788 (GRCm39) I459L probably benign Het
Slco1a5 A T 6: 142,200,118 (GRCm39) V222E probably damaging Het
Slit3 T A 11: 35,598,738 (GRCm39) N1447K probably benign Het
Sorbs2 A G 8: 46,249,038 (GRCm39) H628R probably damaging Het
St6galnac2 A G 11: 116,575,353 (GRCm39) probably benign Het
Tbc1d31 T C 15: 57,816,267 (GRCm39) V667A probably benign Het
Tbx20 A T 9: 24,681,016 (GRCm39) Y159N probably damaging Het
Tmprss11b T A 5: 86,810,092 (GRCm39) Q296L probably benign Het
Ttc6 T A 12: 57,721,380 (GRCm39) probably null Het
Ttn T A 2: 76,701,243 (GRCm39) probably benign Het
Tubgcp4 T A 2: 121,018,617 (GRCm39) L340H probably damaging Het
Tubgcp4 T A 2: 121,024,663 (GRCm39) F613I probably benign Het
Urb1 T C 16: 90,589,650 (GRCm39) Y377C probably damaging Het
Utp15 G A 13: 98,397,354 (GRCm39) probably null Het
Vstm2b A G 7: 40,550,707 (GRCm39) probably null Het
Vwde A T 6: 13,190,627 (GRCm39) V488D probably damaging Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Zfp276 A T 8: 123,992,021 (GRCm39) probably benign Het
Zfp318 T A 17: 46,723,975 (GRCm39) S1993T possibly damaging Het
Zfp959 T C 17: 56,204,626 (GRCm39) L218P probably benign Het
Zxdc A G 6: 90,347,542 (GRCm39) D301G probably 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
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
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'- AGCTAGGCAGTGCAGGAATTAC -3'
(R):5'- GCAATGGTGATACTGCCTTTCTG -3'

Sequencing Primer
(F):5'- CTTGGAAACATCCAAGGC -3'
(R):5'- GTGATACTGCCTTTCTGCTCCTG -3'
Posted On 2016-09-01