Incidental Mutation 'IGL03088:Abca9'
ID418190
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abca9
Ensembl Gene ENSMUSG00000041797
Gene NameATP-binding cassette, sub-family A (ABC1), member 9
SynonymsD630040K07Rik
Accession Numbers

NCBI RefSeq: NM_147220.2; MGI: 2386796

Is this an essential gene? Probably non essential (E-score: 0.148) question?
Stock #IGL03088
Quality Score
Status
Chromosome11
Chromosomal Location110100749-110168196 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 110144261 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 693 (R693S)
Ref Sequence ENSEMBL: ENSMUSP00000036338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044850]
Predicted Effect probably benign
Transcript: ENSMUST00000044850
AA Change: R693S

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000036338
Gene: ENSMUSG00000041797
AA Change: R693S

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
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik T G 11: 58,293,384 L299R unknown Het
5330417C22Rik A G 3: 108,536,358 W31R probably damaging Het
8030411F24Rik A T 2: 148,783,407 H87L possibly damaging Het
Adamts20 A T 15: 94,329,914 probably null Het
Afg1l T A 10: 42,426,497 D169V probably damaging Het
Agbl1 T A 7: 76,720,142 M663K probably benign Het
Angpt2 T A 8: 18,741,023 I86F probably benign Het
Ankrd2 G A 19: 42,041,985 E160K probably null Het
As3mt G T 19: 46,707,794 V14F probably damaging Het
Atp6v0a2 T C 5: 124,714,107 probably benign Het
Atp6v0d1 T A 8: 105,530,959 I113F probably damaging Het
Bank1 A G 3: 136,093,362 I406T probably damaging Het
BC053393 C A 11: 46,584,417 F146L probably benign Het
Bicdl1 A G 5: 115,663,822 V59A possibly damaging Het
Brsk1 A G 7: 4,710,454 probably benign Het
Cdh17 T A 4: 11,810,473 N721K probably damaging Het
Cercam A G 2: 29,881,687 probably benign Het
Clpb T A 7: 101,785,449 L484* probably null Het
Creb3l1 T A 2: 91,995,394 M127L probably benign Het
Ctla2b A C 13: 60,896,060 D122E probably damaging Het
Cyb5rl C A 4: 107,081,028 Y12* probably null Het
Dennd5a T C 7: 109,908,381 Y800C probably damaging Het
Dmrt3 T G 19: 25,623,047 S419A probably benign Het
Fbxo38 A G 18: 62,522,472 V381A possibly damaging Het
Flg2 A T 3: 93,203,191 H842L unknown Het
Fn1 A T 1: 71,614,038 probably null Het
Fos A C 12: 85,475,856 T181P possibly damaging Het
Fzd10 A G 5: 128,602,605 Y463C possibly damaging Het
Gprc5b T C 7: 118,983,633 M338V probably benign Het
Gsta4 T C 9: 78,206,063 probably benign Het
Gstm2 T A 3: 107,986,046 T34S probably benign Het
Haspin C T 11: 73,136,625 R546Q probably damaging Het
Itgad G A 7: 128,203,032 R958H probably benign Het
Kansl1l A T 1: 66,735,725 H647Q probably damaging Het
Kif5c A C 2: 49,744,443 R762S probably benign Het
Klf4 A G 4: 55,530,811 L50P probably damaging Het
Klf4 C A 4: 55,530,758 A68S possibly damaging Het
Kmt2c T C 5: 25,299,804 E3502G probably damaging Het
Krt8 A G 15: 102,000,587 I202T possibly damaging Het
Lmcd1 A T 6: 112,310,688 T112S probably damaging Het
Lpxn T C 19: 12,833,211 C340R probably damaging Het
Man2a2 C T 7: 80,359,334 V844M possibly damaging Het
Map10 G A 8: 125,671,070 E401K probably benign Het
Mark4 A T 7: 19,451,584 L75Q probably damaging Het
Mlf2 T G 6: 124,933,982 M81R probably damaging Het
Mup3 A G 4: 62,086,842 I67T probably damaging Het
Mycbpap T C 11: 94,513,943 probably null Het
Myt1l T C 12: 29,920,477 V1185A probably benign Het
Ncoa7 C T 10: 30,698,125 probably null Het
Nos1 C A 5: 117,867,258 N14K probably damaging Het
Nova2 G T 7: 18,950,569 V116F unknown Het
Obox3 G A 7: 15,627,002 probably benign Het
Olfr110 A G 17: 37,498,648 probably benign Het
Olfr239 A T 17: 33,199,560 T171S probably benign Het
Olfr325 T A 11: 58,581,827 probably benign Het
Olfr914 A T 9: 38,607,301 S279C probably damaging Het
P2rx5 T A 11: 73,165,620 probably benign Het
Parvb T A 15: 84,308,843 probably benign Het
Popdc2 A T 16: 38,373,822 T202S probably damaging Het
Ppm1j T A 3: 104,785,409 Y411* probably null Het
Rapgefl1 C A 11: 98,849,232 L484M probably damaging Het
Sept14 A G 5: 129,697,733 probably benign Het
Slf1 A G 13: 77,084,435 C517R probably damaging Het
Smyd3 A G 1: 179,094,333 probably null Het
Snx9 A G 17: 5,924,610 T458A probably benign Het
Srgap1 T C 10: 121,825,693 D514G possibly damaging Het
Tbc1d14 A G 5: 36,524,964 S311P probably damaging Het
Tmem150c T G 5: 100,086,217 K91N probably damaging Het
Traf3 T A 12: 111,261,843 M471K probably damaging Het
Tubd1 G T 11: 86,552,999 G178C probably damaging Het
Vav2 T C 2: 27,267,250 K847E possibly damaging Het
Vmn2r100 A T 17: 19,522,039 H225L probably benign Het
Wrn A T 8: 33,268,823 probably benign Het
Xpo7 T G 14: 70,681,262 S710R probably benign Het
Zfp780b C T 7: 27,962,992 V713I possibly damaging Het
Zkscan17 A T 11: 59,487,766 I197N probably damaging Het
Other mutations in Abca9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00309:Abca9 APN 11 110160516 missense probably benign
IGL00467:Abca9 APN 11 110145670 splice site probably benign
IGL00886:Abca9 APN 11 110163275 missense possibly damaging 0.93
IGL01340:Abca9 APN 11 110130627 missense probably benign
IGL01351:Abca9 APN 11 110148903 missense probably damaging 0.99
IGL01383:Abca9 APN 11 110113293 splice site probably benign
IGL01384:Abca9 APN 11 110145637 missense probably damaging 1.00
IGL01482:Abca9 APN 11 110120773 missense probably benign 0.05
IGL01586:Abca9 APN 11 110154417 missense probably damaging 0.99
IGL01589:Abca9 APN 11 110155177 missense probably damaging 1.00
IGL01926:Abca9 APN 11 110135329 splice site probably benign
IGL02059:Abca9 APN 11 110160394 splice site probably benign
IGL02084:Abca9 APN 11 110130597 missense probably benign
IGL02096:Abca9 APN 11 110102533 missense probably damaging 1.00
IGL02096:Abca9 APN 11 110165980 missense probably benign 0.01
IGL02290:Abca9 APN 11 110135351 missense probably damaging 1.00
IGL02303:Abca9 APN 11 110154550 missense probably damaging 1.00
IGL02549:Abca9 APN 11 110102053 missense probably damaging 1.00
IGL02687:Abca9 APN 11 110114232 missense probably damaging 1.00
IGL02752:Abca9 APN 11 110127368 missense probably damaging 1.00
IGL02814:Abca9 APN 11 110154467 missense possibly damaging 0.90
IGL02878:Abca9 APN 11 110138329 missense probably benign 0.01
IGL03231:Abca9 APN 11 110155268 missense probably damaging 0.96
R0050:Abca9 UTSW 11 110145591 missense probably damaging 1.00
R0050:Abca9 UTSW 11 110145591 missense probably damaging 1.00
R0064:Abca9 UTSW 11 110144871 missense probably damaging 1.00
R0064:Abca9 UTSW 11 110144872 missense probably damaging 1.00
R0068:Abca9 UTSW 11 110145579 missense probably damaging 0.99
R0189:Abca9 UTSW 11 110108653 missense probably damaging 1.00
R0189:Abca9 UTSW 11 110141662 splice site probably benign
R0375:Abca9 UTSW 11 110115447 missense probably benign 0.00
R0601:Abca9 UTSW 11 110117058 critical splice donor site probably null
R0624:Abca9 UTSW 11 110139620 missense probably damaging 1.00
R0652:Abca9 UTSW 11 110152063 missense probably benign 0.02
R1004:Abca9 UTSW 11 110151954 missense possibly damaging 0.88
R1222:Abca9 UTSW 11 110145064 splice site probably benign
R1451:Abca9 UTSW 11 110127447 missense probably damaging 1.00
R1462:Abca9 UTSW 11 110160516 missense probably benign
R1462:Abca9 UTSW 11 110160516 missense probably benign
R1474:Abca9 UTSW 11 110145579 missense probably damaging 0.99
R1499:Abca9 UTSW 11 110139632 missense probably benign 0.00
R1778:Abca9 UTSW 11 110130716 nonsense probably null
R2015:Abca9 UTSW 11 110131846 missense probably benign 0.01
R2295:Abca9 UTSW 11 110148903 missense probably damaging 0.99
R2303:Abca9 UTSW 11 110158226 missense probably benign 0.01
R2403:Abca9 UTSW 11 110115454 missense probably benign 0.16
R2886:Abca9 UTSW 11 110144886 splice site probably benign
R3435:Abca9 UTSW 11 110154430 missense probably benign 0.24
R3976:Abca9 UTSW 11 110148789 missense probably benign 0.25
R4335:Abca9 UTSW 11 110152017 missense probably damaging 1.00
R4411:Abca9 UTSW 11 110151955 missense probably benign 0.00
R4613:Abca9 UTSW 11 110144784 missense probably benign 0.26
R4690:Abca9 UTSW 11 110148880 missense probably damaging 1.00
R4720:Abca9 UTSW 11 110127422 missense probably damaging 1.00
R4751:Abca9 UTSW 11 110130570 missense probably benign 0.00
R4797:Abca9 UTSW 11 110118119 missense probably benign
R4818:Abca9 UTSW 11 110155154 critical splice donor site probably null
R4903:Abca9 UTSW 11 110147001 missense probably damaging 1.00
R4971:Abca9 UTSW 11 110152048 missense probably benign 0.43
R4977:Abca9 UTSW 11 110136073 missense probably benign 0.00
R5019:Abca9 UTSW 11 110165934 missense probably benign
R5079:Abca9 UTSW 11 110145569 missense possibly damaging 0.47
R5082:Abca9 UTSW 11 110131868 missense probably benign
R5093:Abca9 UTSW 11 110141532 missense probably damaging 0.98
R5212:Abca9 UTSW 11 110107226 missense probably benign 0.02
R5350:Abca9 UTSW 11 110115538 missense probably benign
R5368:Abca9 UTSW 11 110145546 missense probably damaging 1.00
R5432:Abca9 UTSW 11 110141554 missense possibly damaging 0.83
R5436:Abca9 UTSW 11 110134236 missense probably damaging 1.00
R5497:Abca9 UTSW 11 110130692 missense probably damaging 1.00
R5503:Abca9 UTSW 11 110141610 missense probably damaging 1.00
R5594:Abca9 UTSW 11 110144862 missense probably damaging 1.00
R5742:Abca9 UTSW 11 110160417 missense probably damaging 0.98
R5776:Abca9 UTSW 11 110107460 splice site probably null
R5781:Abca9 UTSW 11 110101987 missense probably damaging 1.00
R5872:Abca9 UTSW 11 110117076 missense possibly damaging 0.70
R5923:Abca9 UTSW 11 110160552 missense probably benign 0.09
R6020:Abca9 UTSW 11 110145613 missense possibly damaging 0.86
R6179:Abca9 UTSW 11 110134254 missense probably benign 0.05
R6245:Abca9 UTSW 11 110135423 missense probably damaging 1.00
R6249:Abca9 UTSW 11 110145627 missense probably benign
R6365:Abca9 UTSW 11 110145655 missense possibly damaging 0.63
R6385:Abca9 UTSW 11 110134254 missense probably damaging 0.99
R6481:Abca9 UTSW 11 110165962 nonsense probably null
R6675:Abca9 UTSW 11 110115476 missense probably benign
R6909:Abca9 UTSW 11 110115497 missense probably benign 0.01
Posted On2016-08-02