Incidental Mutation 'R9626:Abca9'
ID 725167
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 # R9626 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 109991575-110059022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 110011606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 1146 (T1146S)
Ref Sequence ENSEMBL: ENSMUSP00000036338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044850]
AlphaFold Q8K449
Predicted Effect probably benign
Transcript: ENSMUST00000044850
AA Change: T1146S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000036338
Gene: ENSMUSG00000041797
AA Change: T1146S

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,127,502 (GRCm39) N37I unknown Het
Acnat2 G A 4: 49,380,179 (GRCm39) H400Y probably damaging Het
Adgrd1 T C 5: 129,275,721 (GRCm39) S768P probably damaging Het
Arap2 T A 5: 62,906,878 (GRCm39) H47L probably benign Het
Atxn1 T A 13: 45,710,796 (GRCm39) N712I possibly damaging Het
Bri3bp T A 5: 125,531,572 (GRCm39) S173T probably damaging Het
Camta1 A T 4: 151,168,287 (GRCm39) S254R probably damaging Het
Card9 T C 2: 26,247,294 (GRCm39) E285G probably benign Het
Celf2 G A 2: 6,590,835 (GRCm39) A320V probably benign Het
Celsr3 T C 9: 108,726,521 (GRCm39) I3250T probably damaging Het
Cfap46 C T 7: 139,230,805 (GRCm39) R941H Het
Cntrob T C 11: 69,202,167 (GRCm39) H475R possibly damaging Het
Dcaf6 G A 1: 165,227,264 (GRCm39) R288* probably null Het
Ebna1bp2 G A 4: 118,478,371 (GRCm39) probably benign Het
Erich3 A T 3: 154,444,730 (GRCm39) D302V probably benign Het
Fbxo48 T A 11: 16,904,333 (GRCm39) *162K probably null Het
Fyttd1 T C 16: 32,725,915 (GRCm39) L290S probably damaging Het
Gcc1 T C 6: 28,418,917 (GRCm39) D472G probably damaging Het
Gjb4 C T 4: 127,246,081 (GRCm39) probably benign Het
Gm5157 G T 7: 20,919,396 (GRCm39) T49K probably damaging Het
Gpr143 GTTTTTT GTTTTTTT X: 151,578,627 (GRCm39) probably null Het
Hnrnpm G T 17: 33,896,264 (GRCm39) D88E probably damaging Het
Hormad2 G A 11: 4,377,372 (GRCm39) P22L probably damaging Het
Hunk C T 16: 90,272,791 (GRCm39) T365M probably damaging Het
Lamb1 A G 12: 31,354,669 (GRCm39) D972G probably benign Het
Mamdc4 A G 2: 25,458,273 (GRCm39) L379P probably damaging Het
Mcrs1 A G 15: 99,146,353 (GRCm39) L179P probably damaging Het
Mterf2 C T 10: 84,956,295 (GRCm39) A110T probably benign Het
Mucl1 A G 15: 103,783,934 (GRCm39) S91P possibly damaging Het
Myo1d C A 11: 80,448,296 (GRCm39) G943V possibly damaging Het
Ndst4 A C 3: 125,476,829 (GRCm39) D18A probably damaging Het
Ndufv1 A T 19: 4,058,064 (GRCm39) C382* probably null Het
Npc1l1 T C 11: 6,177,854 (GRCm39) K519E probably benign Het
Nphs1 A G 7: 30,166,991 (GRCm39) K747E probably benign Het
Nubp2 C G 17: 25,103,374 (GRCm39) probably null Het
Odad2 G T 18: 7,211,422 (GRCm39) C817* probably null Het
Or13a19 T C 7: 139,903,236 (GRCm39) V208A probably benign Het
Or5b97 A T 19: 12,878,600 (GRCm39) D181E possibly damaging Het
Or7a36 T G 10: 78,820,213 (GRCm39) D196E probably benign Het
Or7a40 A G 16: 16,491,491 (GRCm39) M118T probably damaging Het
Or8b48 A G 9: 38,492,977 (GRCm39) T135A probably benign Het
Pcdhac2 T G 18: 37,279,555 (GRCm39) L845R probably damaging Het
Pcdhb14 A C 18: 37,581,787 (GRCm39) T298P probably damaging Het
Phldb2 A T 16: 45,592,547 (GRCm39) L957Q possibly damaging Het
Pole A G 5: 110,459,959 (GRCm39) D1121G possibly damaging Het
Ppp1r3g C A 13: 36,153,612 (GRCm39) T344K probably benign Het
Prpf8 A G 11: 75,385,681 (GRCm39) K954R possibly damaging Het
Prr15l C A 11: 96,825,440 (GRCm39) Y23* probably null Het
Sap18b A G 8: 96,552,098 (GRCm39) E36G possibly damaging Het
Slc46a2 A T 4: 59,914,241 (GRCm39) F227L probably benign Het
Spata13 C T 14: 60,944,349 (GRCm39) P581S probably benign Het
Spmip4 T A 6: 50,550,930 (GRCm39) K506N Het
Ssc5d C A 7: 4,946,568 (GRCm39) T974K probably benign Het
Tenm4 C A 7: 96,545,345 (GRCm39) R2491S probably damaging Het
Tex2 T C 11: 106,437,579 (GRCm39) E697G unknown Het
Tmem44 A T 16: 30,366,226 (GRCm39) F67I possibly damaging Het
Trpm6 A T 19: 18,790,846 (GRCm39) Q627L probably damaging Het
Ttc39a A G 4: 109,278,570 (GRCm39) D77G possibly damaging Het
Ttc9 A G 12: 81,710,301 (GRCm39) I198V probably benign Het
Ttn C T 2: 76,661,550 (GRCm39) V11942M unknown Het
Uqcrc2 T A 7: 120,237,118 (GRCm39) Y55* probably null Het
Vmn1r160 A T 7: 22,571,273 (GRCm39) M209L probably benign Het
Vmn2r50 A T 7: 9,771,960 (GRCm39) C580* probably null Het
Vmn2r96 A G 17: 18,793,758 (GRCm39) E34G probably benign Het
Zmynd8 C T 2: 165,654,268 (GRCm39) probably null 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
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
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'- CTTTGCATAGCCTGGGACTG -3'
(R):5'- AGGACGCCATCATCAGAATCTG -3'

Sequencing Primer
(F):5'- CATAGCCTGGGACTGACTTTG -3'
(R):5'- ACCTGCATTGTGTGTGAGAAGC -3'
Posted On 2022-09-12