Incidental Mutation 'R7297:Abca6'
ID 566757
Institutional Source Beutler Lab
Gene Symbol Abca6
Ensembl Gene ENSMUSG00000044749
Gene Name ATP-binding cassette, sub-family A member 6
Synonyms 6330565N06Rik
MMRRC Submission 045401-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7297 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 110067646-110142602 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 110073852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000035458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044003]
AlphaFold Q8K441
Predicted Effect probably null
Transcript: ENSMUST00000044003
SMART Domains Protein: ENSMUSP00000035458
Gene: ENSMUSG00000044749

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 28 416 1.4e-42 PFAM
low complexity region 484 495 N/A INTRINSIC
AAA 506 691 1.13e-6 SMART
transmembrane domain 854 876 N/A INTRINSIC
transmembrane domain 971 990 N/A INTRINSIC
transmembrane domain 1005 1027 N/A INTRINSIC
Blast:AAA 1041 1176 4e-21 BLAST
transmembrane domain 1191 1213 N/A INTRINSIC
low complexity region 1243 1254 N/A INTRINSIC
AAA 1312 1505 2.43e-6 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. 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 encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24 and may play a role in macrophage lipid homeostasis. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,332,088 (GRCm39) D1400G probably benign Het
Adh4 A G 3: 138,134,901 (GRCm39) I358M possibly damaging Het
Akap6 T G 12: 52,934,147 (GRCm39) D546E probably benign Het
Arap3 G A 18: 38,106,616 (GRCm39) A1409V possibly damaging Het
Arhgap22 C T 14: 32,993,890 (GRCm39) R68* probably null Het
Arhgef4 A T 1: 34,846,273 (GRCm39) D207V probably damaging Het
Asb15 A G 6: 24,566,462 (GRCm39) T472A probably damaging Het
Ascl1 A T 10: 87,328,326 (GRCm39) S209T probably damaging Het
Asxl1 T C 2: 153,239,355 (GRCm39) V382A probably benign Het
Atp11a T C 8: 12,856,774 (GRCm39) probably null Het
Calu C T 6: 29,356,554 (GRCm39) R27* probably null Het
Cdh20 A G 1: 104,898,598 (GRCm39) T442A probably benign Het
Chrm3 T A 13: 9,927,869 (GRCm39) Q389L probably benign Het
Cntnap1 A G 11: 101,079,460 (GRCm39) T1233A probably benign Het
Cwc15 G A 9: 14,421,525 (GRCm39) C197Y probably damaging Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dennd3 C T 15: 73,429,459 (GRCm39) T914I probably damaging Het
Dlx3 C A 11: 95,011,276 (GRCm39) Y43* probably null Het
Dnah17 A T 11: 117,946,556 (GRCm39) probably null Het
Dnah17 A G 11: 117,994,182 (GRCm39) F1081S probably damaging Het
Dpp10 G A 1: 123,281,157 (GRCm39) Q631* probably null Het
Dsel T A 1: 111,789,506 (GRCm39) D343V probably damaging Het
Efcab12 T C 6: 115,787,997 (GRCm39) D655G possibly damaging Het
Epha8 T A 4: 136,673,224 (GRCm39) I187L probably damaging Het
Exosc10 A G 4: 148,664,834 (GRCm39) K781E probably damaging Het
Exosc5 T C 7: 25,365,751 (GRCm39) L200P probably benign Het
Faiml T C 9: 99,111,666 (GRCm39) E131G probably damaging Het
Gm5145 G A 17: 20,790,993 (GRCm39) V124I probably benign Het
Grm7 T C 6: 110,622,974 (GRCm39) V49A probably benign Het
Gtf2e1 T C 16: 37,356,427 (GRCm39) D35G probably damaging Het
Heatr1 C T 13: 12,435,941 (GRCm39) Q1160* probably null Het
Herc2 T A 7: 55,786,406 (GRCm39) C1584S probably benign Het
Hsd17b3 T C 13: 64,224,165 (GRCm39) I88V probably damaging Het
Hspa14 A C 2: 3,499,179 (GRCm39) L205R possibly damaging Het
Ifna11 A C 4: 88,738,662 (GRCm39) E156A possibly damaging Het
Krt87 T C 15: 101,387,528 (GRCm39) D170G probably benign Het
Mas1 T C 17: 13,060,745 (GRCm39) Y226C probably damaging Het
Micall1 T C 15: 79,005,097 (GRCm39) F190L unknown Het
Msi2 A T 11: 88,370,864 (GRCm39) L141Q probably damaging Het
Nfkbib T C 7: 28,465,768 (GRCm39) D27G probably benign Het
Nlrp9b A G 7: 19,783,438 (GRCm39) D927G possibly damaging Het
Nrg3 T C 14: 38,092,896 (GRCm39) D579G probably benign Het
Nutm1 G A 2: 112,080,401 (GRCm39) R505C probably damaging Het
Or8d1 G A 9: 38,767,245 (GRCm39) D296N probably damaging Het
Or8h6 A T 2: 86,703,980 (GRCm39) V29E probably damaging Het
Parp4 C T 14: 56,885,138 (GRCm39) P1406S not run Het
Pkib A T 10: 57,612,422 (GRCm39) Q101L possibly damaging Het
Plat C T 8: 23,265,713 (GRCm39) T252I probably benign Het
Ppm1d A T 11: 85,236,821 (GRCm39) E533D probably damaging Het
Psd3 T C 8: 68,573,686 (GRCm39) K165R probably damaging Het
Psg29 T A 7: 16,944,616 (GRCm39) Y375* probably null Het
Pus7 A T 5: 23,946,908 (GRCm39) I644N probably damaging Het
Rbbp9 A T 2: 144,385,722 (GRCm39) M181K probably benign Het
Rell1 A T 5: 64,093,418 (GRCm39) N112K possibly damaging Het
Simc1 AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG 13: 54,673,048 (GRCm39) probably benign Het
Skint5 G A 4: 113,400,131 (GRCm39) T1184M unknown Het
Slc27a2 T A 2: 126,420,866 (GRCm39) D452E probably damaging Het
Slc44a4 T A 17: 35,146,888 (GRCm39) I489N probably damaging Het
Slfn14 T A 11: 83,169,821 (GRCm39) K608* probably null Het
Snx15 T A 19: 6,170,537 (GRCm39) I301F probably damaging Het
Sost C T 11: 101,854,929 (GRCm39) G127R probably damaging Het
Stt3b A G 9: 115,106,025 (GRCm39) I150T probably damaging Het
Susd2 T C 10: 75,478,402 (GRCm39) D58G probably benign Het
Tex46 T G 4: 136,340,212 (GRCm39) V99G probably damaging Het
Tgfbi T A 13: 56,779,926 (GRCm39) F492I possibly damaging Het
Tmem132c G A 5: 127,437,281 (GRCm39) A257T probably benign Het
Trim2 A T 3: 84,117,540 (GRCm39) I51K probably damaging Het
Tsn A T 1: 118,228,591 (GRCm39) Y210* probably null Het
Umodl1 G A 17: 31,227,639 (GRCm39) R1324H probably benign Het
Utp3 G C 5: 88,702,376 (GRCm39) probably benign Het
Vmn1r5 A T 6: 56,963,204 (GRCm39) N293I possibly damaging Het
Vmn2r124 A T 17: 18,293,835 (GRCm39) I641F probably damaging Het
Vmn2r84 T C 10: 130,227,119 (GRCm39) N240D probably benign Het
Wbp1l A G 19: 46,642,839 (GRCm39) D264G possibly damaging Het
Other mutations in Abca6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Abca6 APN 11 110,075,535 (GRCm39) missense probably damaging 1.00
IGL00569:Abca6 APN 11 110,077,875 (GRCm39) missense possibly damaging 0.88
IGL00737:Abca6 APN 11 110,087,823 (GRCm39) splice site probably benign
IGL01024:Abca6 APN 11 110,087,968 (GRCm39) missense probably benign
IGL01087:Abca6 APN 11 110,082,476 (GRCm39) missense probably benign 0.00
IGL01511:Abca6 APN 11 110,135,136 (GRCm39) missense probably benign 0.00
IGL01516:Abca6 APN 11 110,109,043 (GRCm39) missense possibly damaging 0.70
IGL01621:Abca6 APN 11 110,075,534 (GRCm39) missense probably damaging 1.00
IGL01749:Abca6 APN 11 110,135,050 (GRCm39) missense probably damaging 1.00
IGL01934:Abca6 APN 11 110,079,481 (GRCm39) missense probably benign 0.00
IGL02010:Abca6 APN 11 110,110,442 (GRCm39) missense probably benign 0.12
IGL02121:Abca6 APN 11 110,073,750 (GRCm39) missense probably benign 0.38
IGL02423:Abca6 APN 11 110,109,832 (GRCm39) splice site probably benign
IGL02428:Abca6 APN 11 110,069,618 (GRCm39) missense possibly damaging 0.81
IGL02491:Abca6 APN 11 110,067,794 (GRCm39) utr 3 prime probably benign
IGL02541:Abca6 APN 11 110,103,093 (GRCm39) missense probably damaging 1.00
IGL02792:Abca6 APN 11 110,079,507 (GRCm39) missense probably damaging 0.99
IGL02836:Abca6 APN 11 110,139,374 (GRCm39) missense probably damaging 1.00
IGL02965:Abca6 APN 11 110,071,439 (GRCm39) missense probably benign
IGL03094:Abca6 APN 11 110,074,938 (GRCm39) missense probably benign 0.03
IGL03109:Abca6 APN 11 110,071,173 (GRCm39) missense probably damaging 0.96
R0068:Abca6 UTSW 11 110,073,708 (GRCm39) missense probably damaging 1.00
R0142:Abca6 UTSW 11 110,079,467 (GRCm39) missense probably damaging 1.00
R0165:Abca6 UTSW 11 110,110,430 (GRCm39) missense possibly damaging 0.90
R0254:Abca6 UTSW 11 110,127,615 (GRCm39) missense probably benign 0.16
R0598:Abca6 UTSW 11 110,087,980 (GRCm39) missense probably damaging 1.00
R0992:Abca6 UTSW 11 110,102,510 (GRCm39) missense probably damaging 1.00
R1386:Abca6 UTSW 11 110,135,081 (GRCm39) missense probably benign 0.02
R1642:Abca6 UTSW 11 110,109,107 (GRCm39) missense possibly damaging 0.73
R1673:Abca6 UTSW 11 110,103,165 (GRCm39) missense probably benign 0.01
R1792:Abca6 UTSW 11 110,074,870 (GRCm39) missense probably benign 0.00
R1813:Abca6 UTSW 11 110,124,671 (GRCm39) splice site probably benign
R1817:Abca6 UTSW 11 110,110,144 (GRCm39) missense probably benign 0.00
R1842:Abca6 UTSW 11 110,087,865 (GRCm39) missense probably benign 0.00
R1898:Abca6 UTSW 11 110,099,625 (GRCm39) missense probably damaging 0.99
R1914:Abca6 UTSW 11 110,103,036 (GRCm39) missense probably benign 0.06
R1915:Abca6 UTSW 11 110,103,036 (GRCm39) missense probably benign 0.06
R1934:Abca6 UTSW 11 110,100,909 (GRCm39) critical splice donor site probably null
R1964:Abca6 UTSW 11 110,075,502 (GRCm39) missense probably damaging 0.98
R1967:Abca6 UTSW 11 110,077,974 (GRCm39) missense probably benign 0.09
R2127:Abca6 UTSW 11 110,110,475 (GRCm39) missense probably benign 0.00
R2128:Abca6 UTSW 11 110,110,475 (GRCm39) missense probably benign 0.00
R2164:Abca6 UTSW 11 110,101,019 (GRCm39) frame shift probably null
R2895:Abca6 UTSW 11 110,093,252 (GRCm39) missense probably benign 0.00
R3110:Abca6 UTSW 11 110,069,655 (GRCm39) nonsense probably null
R3111:Abca6 UTSW 11 110,069,655 (GRCm39) nonsense probably null
R3112:Abca6 UTSW 11 110,069,655 (GRCm39) nonsense probably null
R4094:Abca6 UTSW 11 110,071,192 (GRCm39) missense probably damaging 1.00
R4432:Abca6 UTSW 11 110,132,414 (GRCm39) missense probably benign 0.11
R4474:Abca6 UTSW 11 110,124,598 (GRCm39) missense possibly damaging 0.46
R4572:Abca6 UTSW 11 110,107,374 (GRCm39) missense probably benign 0.31
R4629:Abca6 UTSW 11 110,121,375 (GRCm39) critical splice acceptor site probably null
R4793:Abca6 UTSW 11 110,082,544 (GRCm39) missense probably benign
R4852:Abca6 UTSW 11 110,135,029 (GRCm39) missense probably benign 0.09
R4867:Abca6 UTSW 11 110,093,205 (GRCm39) missense probably benign 0.01
R4879:Abca6 UTSW 11 110,110,526 (GRCm39) missense probably damaging 0.98
R4918:Abca6 UTSW 11 110,071,377 (GRCm39) missense probably damaging 1.00
R5060:Abca6 UTSW 11 110,110,430 (GRCm39) missense possibly damaging 0.90
R5062:Abca6 UTSW 11 110,067,892 (GRCm39) missense probably benign 0.12
R5083:Abca6 UTSW 11 110,109,793 (GRCm39) missense probably damaging 1.00
R5173:Abca6 UTSW 11 110,082,546 (GRCm39) missense probably benign
R5393:Abca6 UTSW 11 110,135,121 (GRCm39) missense probably benign 0.00
R5484:Abca6 UTSW 11 110,074,899 (GRCm39) missense probably damaging 1.00
R5498:Abca6 UTSW 11 110,099,670 (GRCm39) missense possibly damaging 0.95
R5503:Abca6 UTSW 11 110,109,083 (GRCm39) missense probably damaging 1.00
R5645:Abca6 UTSW 11 110,141,234 (GRCm39) missense probably damaging 0.99
R5680:Abca6 UTSW 11 110,127,471 (GRCm39) missense possibly damaging 0.88
R5761:Abca6 UTSW 11 110,100,927 (GRCm39) missense probably damaging 1.00
R5779:Abca6 UTSW 11 110,075,496 (GRCm39) missense probably benign 0.37
R5818:Abca6 UTSW 11 110,110,469 (GRCm39) missense probably damaging 1.00
R6282:Abca6 UTSW 11 110,099,650 (GRCm39) missense probably damaging 0.98
R6455:Abca6 UTSW 11 110,132,407 (GRCm39) missense probably damaging 1.00
R6826:Abca6 UTSW 11 110,107,431 (GRCm39) missense probably benign 0.15
R6857:Abca6 UTSW 11 110,110,514 (GRCm39) missense possibly damaging 0.63
R6914:Abca6 UTSW 11 110,081,064 (GRCm39) missense probably benign
R6931:Abca6 UTSW 11 110,135,154 (GRCm39) missense probably benign 0.27
R7222:Abca6 UTSW 11 110,082,519 (GRCm39) missense probably benign 0.29
R7242:Abca6 UTSW 11 110,132,479 (GRCm39) missense possibly damaging 0.47
R7387:Abca6 UTSW 11 110,093,246 (GRCm39) missense probably benign
R7420:Abca6 UTSW 11 110,141,303 (GRCm39) missense probably benign 0.24
R7494:Abca6 UTSW 11 110,099,571 (GRCm39) missense possibly damaging 0.93
R7603:Abca6 UTSW 11 110,071,084 (GRCm39) missense possibly damaging 0.69
R7637:Abca6 UTSW 11 110,109,778 (GRCm39) missense probably benign 0.00
R7674:Abca6 UTSW 11 110,110,123 (GRCm39) missense probably damaging 1.00
R7753:Abca6 UTSW 11 110,074,933 (GRCm39) missense probably damaging 1.00
R7800:Abca6 UTSW 11 110,078,698 (GRCm39) missense probably benign 0.00
R7842:Abca6 UTSW 11 110,087,523 (GRCm39) missense possibly damaging 0.76
R7855:Abca6 UTSW 11 110,082,454 (GRCm39) missense probably benign 0.01
R8119:Abca6 UTSW 11 110,087,930 (GRCm39) missense probably benign 0.00
R8139:Abca6 UTSW 11 110,074,959 (GRCm39) missense probably damaging 1.00
R8176:Abca6 UTSW 11 110,135,020 (GRCm39) missense probably benign 0.01
R8179:Abca6 UTSW 11 110,136,100 (GRCm39) missense probably damaging 1.00
R8197:Abca6 UTSW 11 110,102,641 (GRCm39) missense probably damaging 0.99
R8241:Abca6 UTSW 11 110,079,456 (GRCm39) missense probably null 1.00
R8404:Abca6 UTSW 11 110,110,145 (GRCm39) missense probably damaging 0.99
R8429:Abca6 UTSW 11 110,093,208 (GRCm39) missense probably benign
R8502:Abca6 UTSW 11 110,110,145 (GRCm39) missense probably damaging 0.99
R8816:Abca6 UTSW 11 110,127,513 (GRCm39) missense probably benign 0.04
R8964:Abca6 UTSW 11 110,139,363 (GRCm39) missense probably benign 0.00
R9153:Abca6 UTSW 11 110,107,481 (GRCm39) missense possibly damaging 0.61
R9233:Abca6 UTSW 11 110,082,496 (GRCm39) missense probably benign 0.31
R9407:Abca6 UTSW 11 110,093,210 (GRCm39) nonsense probably null
R9412:Abca6 UTSW 11 110,103,059 (GRCm39) missense probably damaging 0.99
R9453:Abca6 UTSW 11 110,138,090 (GRCm39) critical splice donor site probably null
R9533:Abca6 UTSW 11 110,102,582 (GRCm39) missense probably benign 0.16
R9546:Abca6 UTSW 11 110,135,042 (GRCm39) nonsense probably null
R9650:Abca6 UTSW 11 110,071,446 (GRCm39) missense probably benign 0.32
R9702:Abca6 UTSW 11 110,107,378 (GRCm39) missense probably damaging 1.00
R9709:Abca6 UTSW 11 110,102,589 (GRCm39) missense probably benign 0.01
X0024:Abca6 UTSW 11 110,135,081 (GRCm39) missense probably benign 0.02
X0064:Abca6 UTSW 11 110,087,968 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ATTTTACATGTTGGTCACCATGGG -3'
(R):5'- ACCATCCTTCCCTGCAATGAATG -3'

Sequencing Primer
(F):5'- GAGGGATTCTCACCACACTTGATG -3'
(R):5'- GTGTGATATTCCCGCCTT -3'
Posted On 2019-06-26