Incidental Mutation 'R5781:Abca9'
ID 447746
Institutional Source Beutler Lab
Gene Symbol Abca9
Ensembl Gene ENSMUSG00000041797
Gene Name ATP-binding cassette, sub-family A member 9
Synonyms D630040K07Rik
MMRRC Submission 043378-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5781 (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 G at 109992813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1617 (L1617P)
Ref Sequence ENSEMBL: ENSMUSP00000036338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044850]
AlphaFold Q8K449
Predicted Effect probably damaging
Transcript: ENSMUST00000044850
AA Change: L1617P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036338
Gene: ENSMUSG00000041797
AA Change: L1617P

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: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b T C 2: 181,135,947 (GRCm39) V283A probably damaging Het
Adamts19 G T 18: 58,971,040 (GRCm39) R208L possibly damaging Het
Adamts4 T C 1: 171,078,584 (GRCm39) I56T possibly damaging Het
Alpk1 A C 3: 127,473,684 (GRCm39) V773G possibly damaging Het
Arhgap10 G T 8: 78,177,336 (GRCm39) Q100K possibly damaging Het
Arhgef18 T A 8: 3,489,439 (GRCm39) probably null Het
Asb15 A T 6: 24,564,377 (GRCm39) H277L probably benign Het
Ascc3 T A 10: 50,514,074 (GRCm39) V291E probably damaging Het
Cnot6l A C 5: 96,234,024 (GRCm39) V329G probably benign Het
Col14a1 A G 15: 55,286,908 (GRCm39) T910A unknown Het
Dhdds G A 4: 133,724,141 (GRCm39) L58F probably damaging Het
Dsc2 A G 18: 20,165,567 (GRCm39) I846T probably benign Het
Evc A T 5: 37,483,914 (GRCm39) S129T probably damaging Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Fyco1 A G 9: 123,623,898 (GRCm39) V1377A probably damaging Het
Haus6 C T 4: 86,519,500 (GRCm39) A203T possibly damaging Het
Hkdc1 T G 10: 62,253,712 (GRCm39) D23A probably damaging Het
Hpdl C T 4: 116,677,775 (GRCm39) V229M probably damaging Het
Hspa12a T C 19: 58,810,518 (GRCm39) Y175C probably damaging Het
Hyal1 C T 9: 107,454,866 (GRCm39) P59S probably damaging Het
Itpr1 G A 6: 108,487,699 (GRCm39) C2374Y probably benign Het
Kmt2a A T 9: 44,759,139 (GRCm39) Y114* probably null Het
Mc2r A T 18: 68,540,466 (GRCm39) Y276N possibly damaging Het
Mc2r A T 18: 68,540,468 (GRCm39) I275K probably damaging Het
Mlycd A G 8: 120,137,019 (GRCm39) Y413C probably damaging Het
Mocs2 T G 13: 114,957,455 (GRCm39) S86R probably damaging Het
Msx2 C A 13: 53,626,644 (GRCm39) A35S probably benign Het
Or6c201 A T 10: 128,969,016 (GRCm39) L207H probably damaging Het
Pla2g4f C A 2: 120,135,504 (GRCm39) S390I probably damaging Het
Plcl1 C T 1: 55,735,148 (GRCm39) A163V possibly damaging Het
Pnn T C 12: 59,118,605 (GRCm39) V396A probably damaging Het
Rbmxl1 G A 8: 79,232,270 (GRCm39) probably benign Het
Recql G T 6: 142,311,344 (GRCm39) probably null Het
Rev3l T A 10: 39,699,089 (GRCm39) N1195K probably benign Het
Rfwd3 G A 8: 111,999,716 (GRCm39) T754M probably benign Het
Sctr A G 1: 119,959,350 (GRCm39) T98A probably damaging Het
Sdk1 T A 5: 141,921,803 (GRCm39) D6E probably benign Het
Smpdl3a T A 10: 57,684,034 (GRCm39) I264K possibly damaging Het
Spag6 A G 2: 18,736,804 (GRCm39) I154V probably benign Het
Tbc1d12 A C 19: 38,871,127 (GRCm39) T297P probably benign Het
Tgfb1 A G 7: 25,396,385 (GRCm39) D226G probably benign Het
Ubr3 G T 2: 69,846,588 (GRCm39) probably null Het
Ubr4 T C 4: 139,195,407 (GRCm39) Y1210H probably damaging Het
Ubr5 T C 15: 38,006,785 (GRCm39) T1157A probably benign Het
Vmn2r120 T G 17: 57,831,938 (GRCm39) T284P probably benign Het
Vps13b G T 15: 35,794,181 (GRCm39) A2286S probably damaging Het
Zcchc14 A T 8: 122,331,332 (GRCm39) probably benign Het
Zfr2 T A 10: 81,079,547 (GRCm39) V362E probably benign 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
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'- ACACTGTGTGCAACGTGAC -3'
(R):5'- GTGGCCATAAATTACACACATGC -3'

Sequencing Primer
(F):5'- GCAACGTGACTTGATTGAGC -3'
(R):5'- AGCCTAGGAAGTATATAACCTTTGC -3'
Posted On 2016-12-15