Incidental Mutation 'R0507:Abca7'
ID 47675
Institutional Source Beutler Lab
Gene Symbol Abca7
Ensembl Gene ENSMUSG00000035722
Gene Name ATP-binding cassette, sub-family A member 7
Synonyms Abc51
MMRRC Submission 038702-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0507 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 79832328-79851406 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 79838655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043866] [ENSMUST00000132517] [ENSMUST00000171637]
AlphaFold Q91V24
Predicted Effect probably benign
Transcript: ENSMUST00000043866
SMART Domains Protein: ENSMUSP00000043090
Gene: ENSMUSG00000035722

DomainStartEndE-ValueType
transmembrane domain 23 42 N/A INTRINSIC
Pfam:ABC2_membrane_3 515 747 1.1e-17 PFAM
AAA 830 1011 4.97e-12 SMART
low complexity region 1136 1147 N/A INTRINSIC
transmembrane domain 1241 1263 N/A INTRINSIC
low complexity region 1299 1309 N/A INTRINSIC
low complexity region 1374 1390 N/A INTRINSIC
Pfam:ABC2_membrane_3 1427 1764 9e-43 PFAM
AAA 1833 2018 7.2e-9 SMART
low complexity region 2120 2135 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132517
SMART Domains Protein: ENSMUSP00000115111
Gene: ENSMUSG00000035722

DomainStartEndE-ValueType
transmembrane domain 23 42 N/A INTRINSIC
Pfam:ABC2_membrane_3 515 747 1.1e-17 PFAM
AAA 830 1011 4.97e-12 SMART
low complexity region 1136 1147 N/A INTRINSIC
transmembrane domain 1241 1263 N/A INTRINSIC
low complexity region 1299 1309 N/A INTRINSIC
low complexity region 1374 1390 N/A INTRINSIC
Pfam:ABC2_membrane_3 1427 1764 9e-43 PFAM
AAA 1833 2018 7.2e-9 SMART
low complexity region 2120 2135 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171637
SMART Domains Protein: ENSMUSP00000128121
Gene: ENSMUSG00000035722

DomainStartEndE-ValueType
transmembrane domain 23 42 N/A INTRINSIC
Pfam:ABC2_membrane_3 517 747 2.8e-19 PFAM
AAA 830 1011 4.97e-12 SMART
low complexity region 1136 1147 N/A INTRINSIC
transmembrane domain 1249 1271 N/A INTRINSIC
low complexity region 1307 1317 N/A INTRINSIC
low complexity region 1382 1398 N/A INTRINSIC
Pfam:ABC2_membrane_3 1426 1772 3.9e-47 PFAM
AAA 1841 2026 7.2e-9 SMART
low complexity region 2128 2143 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 100% (72/72)
MGI Phenotype FUNCTION: The 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, White). This 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 protein is widely expressed with highest detection in spleen and hematopoietic tissues. Defects in this gene cause an increase in amyloid-beta deposits in a mouse model of Alzheimer's disease, and a related human protein is thought to play a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jan 2017]
PHENOTYPE: Homozygous mutant females, but not males, have less white fat and lower total serum and HDL cholesterol levels. Males exhibit a 10% reduction in kidney size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 T C 13: 70,916,766 (GRCm39) D742G probably benign Het
Akap9 G A 5: 4,119,043 (GRCm39) E3517K probably benign Het
Arfgef3 T C 10: 18,467,369 (GRCm39) T1944A probably damaging Het
Bsx A G 9: 40,787,796 (GRCm39) probably benign Het
Cct2 A T 10: 116,891,151 (GRCm39) probably null Het
Cdkl4 T C 17: 80,851,237 (GRCm39) D155G probably benign Het
Cep250 C T 2: 155,834,452 (GRCm39) R2126C possibly damaging Het
Cep97 A T 16: 55,726,245 (GRCm39) probably benign Het
Cpne3 C T 4: 19,532,544 (GRCm39) probably benign Het
Csmd1 T C 8: 16,235,358 (GRCm39) probably benign Het
Cx3cr1 C A 9: 119,881,022 (GRCm39) D127Y probably damaging Het
Dcdc2a A G 13: 25,286,572 (GRCm39) Q165R probably damaging Het
Ddx17 A G 15: 79,421,758 (GRCm39) probably benign Het
Dicer1 A G 12: 104,657,917 (GRCm39) S1886P probably damaging Het
Egf T C 3: 129,474,828 (GRCm39) D571G possibly damaging Het
Fyb1 A G 15: 6,664,297 (GRCm39) D460G probably benign Het
Gbp2 G T 3: 142,335,794 (GRCm39) D165Y probably damaging Het
Gm14412 A T 2: 177,006,325 (GRCm39) N523K possibly damaging Het
Gsap C T 5: 21,474,961 (GRCm39) T540I possibly damaging Het
Gucy2d C A 7: 98,108,209 (GRCm39) probably null Het
Icam4 C A 9: 20,940,799 (GRCm39) P17Q possibly damaging Het
Lyz1 A T 10: 117,125,022 (GRCm39) probably null Het
Matcap1 T C 8: 106,011,351 (GRCm39) N261S probably damaging Het
Mbd6 A G 10: 127,119,389 (GRCm39) probably benign Het
Mroh3 A T 1: 136,118,718 (GRCm39) I533N probably damaging Het
Muc4 A T 16: 32,569,887 (GRCm39) M316L probably benign Het
Myof A G 19: 37,889,725 (GRCm39) I1282T possibly damaging Het
Ncald T G 15: 37,397,528 (GRCm39) I51L probably benign Het
Negr1 T A 3: 156,267,862 (GRCm39) S11T probably damaging Het
Obscn T C 11: 58,920,167 (GRCm39) N6735D probably damaging Het
Or52n4b T C 7: 108,144,292 (GRCm39) S185P probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or6c1b A T 10: 129,273,157 (GRCm39) M159L probably benign Het
Or9q1 T A 19: 13,805,140 (GRCm39) I207F possibly damaging Het
Otogl A G 10: 107,702,601 (GRCm39) V684A possibly damaging Het
Palm3 A G 8: 84,754,958 (GRCm39) T157A probably benign Het
Pard3 T A 8: 128,097,967 (GRCm39) probably benign Het
Pcdh15 A G 10: 74,457,129 (GRCm39) D1302G probably damaging Het
Pi16 G A 17: 29,546,826 (GRCm39) E467K possibly damaging Het
Plec A T 15: 76,056,983 (GRCm39) I4183N probably damaging Het
Ppp1r13l T C 7: 19,109,739 (GRCm39) L720P possibly damaging Het
Prag1 A G 8: 36,571,277 (GRCm39) E620G probably damaging Het
Ralbp1 G A 17: 66,156,955 (GRCm39) T646M probably benign Het
Rnf182 T G 13: 43,821,823 (GRCm39) S125A probably benign Het
Rpe C T 1: 66,754,300 (GRCm39) T124I probably benign Het
Rufy4 T C 1: 74,185,875 (GRCm39) I514T probably benign Het
Sec13 A T 6: 113,712,080 (GRCm39) I85N probably damaging Het
Siglec1 C T 2: 130,916,445 (GRCm39) probably benign Het
Skint5 T C 4: 113,425,127 (GRCm39) probably null Het
Slc4a3 T A 1: 75,532,725 (GRCm39) I995K probably damaging Het
Smyd4 T A 11: 75,290,534 (GRCm39) S545T possibly damaging Het
Steap3 C T 1: 120,169,313 (GRCm39) R328H possibly damaging Het
Tgm6 G A 2: 129,980,751 (GRCm39) E183K possibly damaging Het
Themis T A 10: 28,657,828 (GRCm39) V132E possibly damaging Het
Thsd1 T A 8: 22,748,695 (GRCm39) I461N probably damaging Het
Ttk T G 9: 83,750,120 (GRCm39) S692A probably damaging Het
Twf1 A G 15: 94,483,411 (GRCm39) M99T probably damaging Het
Uchl3 T A 14: 101,904,443 (GRCm39) L89* probably null Het
Uhmk1 A G 1: 170,034,760 (GRCm39) V316A probably damaging Het
Unc80 A G 1: 66,567,052 (GRCm39) N886S possibly damaging Het
Vash2 G T 1: 190,699,115 (GRCm39) probably benign Het
Vmn1r200 G A 13: 22,579,718 (GRCm39) E174K probably benign Het
Vps16 T C 2: 130,279,632 (GRCm39) probably null Het
Wdr73 T C 7: 80,541,594 (GRCm39) E316G possibly damaging Het
Xpo1 T C 11: 23,244,682 (GRCm39) V1020A possibly damaging Het
Ylpm1 T A 12: 85,075,886 (GRCm39) N870K probably benign Het
Zfhx4 C T 3: 5,466,048 (GRCm39) Q2069* probably null Het
Zfp1005 T A 2: 150,110,044 (GRCm39) C245S possibly damaging Het
Zfp512b C A 2: 181,226,757 (GRCm39) probably benign Het
Other mutations in Abca7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01063:Abca7 APN 10 79,847,131 (GRCm39) missense probably damaging 0.96
IGL01074:Abca7 APN 10 79,849,726 (GRCm39) missense possibly damaging 0.88
IGL01313:Abca7 APN 10 79,838,957 (GRCm39) splice site probably benign
IGL01372:Abca7 APN 10 79,842,089 (GRCm39) missense probably benign 0.00
IGL01387:Abca7 APN 10 79,835,596 (GRCm39) missense possibly damaging 0.71
IGL01468:Abca7 APN 10 79,839,711 (GRCm39) missense probably benign 0.21
IGL01648:Abca7 APN 10 79,846,914 (GRCm39) missense probably damaging 1.00
IGL01796:Abca7 APN 10 79,849,743 (GRCm39) missense probably damaging 0.99
IGL01977:Abca7 APN 10 79,841,986 (GRCm39) missense probably benign 0.31
IGL01982:Abca7 APN 10 79,838,475 (GRCm39) missense probably damaging 1.00
IGL02115:Abca7 APN 10 79,833,913 (GRCm39) missense probably damaging 1.00
IGL02437:Abca7 APN 10 79,844,223 (GRCm39) missense probably damaging 1.00
IGL02721:Abca7 APN 10 79,849,469 (GRCm39) missense possibly damaging 0.93
IGL02812:Abca7 APN 10 79,841,881 (GRCm39) missense possibly damaging 0.84
IGL02823:Abca7 APN 10 79,844,656 (GRCm39) missense probably damaging 1.00
IGL02827:Abca7 APN 10 79,845,699 (GRCm39) missense probably damaging 1.00
IGL02897:Abca7 APN 10 79,837,426 (GRCm39) missense probably damaging 1.00
IGL02952:Abca7 APN 10 79,843,242 (GRCm39) missense probably damaging 1.00
R0528:Abca7 UTSW 10 79,838,848 (GRCm39) missense probably damaging 1.00
R0541:Abca7 UTSW 10 79,843,185 (GRCm39) missense probably benign 0.01
R0584:Abca7 UTSW 10 79,847,564 (GRCm39) missense probably damaging 1.00
R1018:Abca7 UTSW 10 79,837,325 (GRCm39) missense probably damaging 1.00
R1099:Abca7 UTSW 10 79,849,577 (GRCm39) nonsense probably null
R1520:Abca7 UTSW 10 79,844,664 (GRCm39) missense possibly damaging 0.69
R1536:Abca7 UTSW 10 79,850,064 (GRCm39) missense probably benign 0.39
R1619:Abca7 UTSW 10 79,844,889 (GRCm39) missense probably damaging 1.00
R1636:Abca7 UTSW 10 79,844,832 (GRCm39) missense probably benign
R1752:Abca7 UTSW 10 79,842,468 (GRCm39) missense probably benign 0.17
R1762:Abca7 UTSW 10 79,835,599 (GRCm39) missense probably damaging 1.00
R1764:Abca7 UTSW 10 79,844,784 (GRCm39) missense probably damaging 1.00
R1891:Abca7 UTSW 10 79,840,874 (GRCm39) missense possibly damaging 0.72
R1911:Abca7 UTSW 10 79,842,468 (GRCm39) missense probably benign 0.17
R2032:Abca7 UTSW 10 79,844,071 (GRCm39) missense probably damaging 1.00
R2188:Abca7 UTSW 10 79,838,367 (GRCm39) missense probably damaging 1.00
R2973:Abca7 UTSW 10 79,844,801 (GRCm39) missense probably damaging 1.00
R2974:Abca7 UTSW 10 79,844,801 (GRCm39) missense probably damaging 1.00
R3055:Abca7 UTSW 10 79,835,581 (GRCm39) missense probably damaging 1.00
R4496:Abca7 UTSW 10 79,838,768 (GRCm39) missense probably damaging 1.00
R4570:Abca7 UTSW 10 79,842,528 (GRCm39) missense probably damaging 1.00
R4581:Abca7 UTSW 10 79,842,402 (GRCm39) missense probably benign 0.03
R4588:Abca7 UTSW 10 79,833,701 (GRCm39) splice site probably null
R4628:Abca7 UTSW 10 79,851,022 (GRCm39) critical splice donor site probably null
R4641:Abca7 UTSW 10 79,841,615 (GRCm39) critical splice donor site probably null
R4888:Abca7 UTSW 10 79,838,562 (GRCm39) missense probably damaging 0.97
R4911:Abca7 UTSW 10 79,848,022 (GRCm39) critical splice donor site probably null
R4979:Abca7 UTSW 10 79,840,617 (GRCm39) nonsense probably null
R4997:Abca7 UTSW 10 79,843,154 (GRCm39) missense possibly damaging 0.90
R5147:Abca7 UTSW 10 79,851,149 (GRCm39) missense probably benign 0.02
R5176:Abca7 UTSW 10 79,834,123 (GRCm39) missense probably benign 0.35
R5190:Abca7 UTSW 10 79,835,427 (GRCm39) critical splice donor site probably null
R5358:Abca7 UTSW 10 79,849,165 (GRCm39) missense probably damaging 0.99
R5409:Abca7 UTSW 10 79,850,154 (GRCm39) missense probably damaging 1.00
R5705:Abca7 UTSW 10 79,851,276 (GRCm39) missense probably benign
R6246:Abca7 UTSW 10 79,850,999 (GRCm39) missense probably damaging 1.00
R6256:Abca7 UTSW 10 79,838,456 (GRCm39) missense probably damaging 1.00
R6260:Abca7 UTSW 10 79,844,821 (GRCm39) missense probably damaging 1.00
R6275:Abca7 UTSW 10 79,833,625 (GRCm39) missense probably damaging 1.00
R6277:Abca7 UTSW 10 79,841,992 (GRCm39) missense probably benign 0.04
R6284:Abca7 UTSW 10 79,840,244 (GRCm39) missense probably benign
R6307:Abca7 UTSW 10 79,843,221 (GRCm39) missense probably damaging 1.00
R6451:Abca7 UTSW 10 79,842,733 (GRCm39) missense probably damaging 0.99
R6456:Abca7 UTSW 10 79,850,984 (GRCm39) missense probably null 0.69
R6460:Abca7 UTSW 10 79,844,862 (GRCm39) missense probably benign 0.04
R6560:Abca7 UTSW 10 79,843,230 (GRCm39) missense probably damaging 1.00
R6565:Abca7 UTSW 10 79,847,622 (GRCm39) missense probably damaging 1.00
R6644:Abca7 UTSW 10 79,844,598 (GRCm39) missense probably damaging 0.98
R6814:Abca7 UTSW 10 79,838,833 (GRCm39) missense probably damaging 1.00
R7289:Abca7 UTSW 10 79,845,778 (GRCm39) missense probably damaging 1.00
R7303:Abca7 UTSW 10 79,850,822 (GRCm39) missense probably benign 0.17
R7493:Abca7 UTSW 10 79,837,896 (GRCm39) missense probably damaging 0.96
R7535:Abca7 UTSW 10 79,837,463 (GRCm39) missense probably benign 0.04
R7602:Abca7 UTSW 10 79,833,846 (GRCm39) critical splice acceptor site probably null
R7607:Abca7 UTSW 10 79,847,667 (GRCm39) missense probably damaging 1.00
R7647:Abca7 UTSW 10 79,836,656 (GRCm39) missense probably benign 0.00
R7821:Abca7 UTSW 10 79,838,424 (GRCm39) small deletion probably benign
R7863:Abca7 UTSW 10 79,844,655 (GRCm39) missense probably damaging 1.00
R7896:Abca7 UTSW 10 79,840,792 (GRCm39) missense probably damaging 1.00
R7911:Abca7 UTSW 10 79,840,867 (GRCm39) missense probably benign 0.00
R8114:Abca7 UTSW 10 79,844,874 (GRCm39) missense probably damaging 1.00
R8356:Abca7 UTSW 10 79,842,360 (GRCm39) missense probably benign 0.05
R8439:Abca7 UTSW 10 79,841,995 (GRCm39) missense probably benign 0.03
R8456:Abca7 UTSW 10 79,842,360 (GRCm39) missense probably benign 0.05
R8830:Abca7 UTSW 10 79,844,805 (GRCm39) missense probably damaging 1.00
R9004:Abca7 UTSW 10 79,841,483 (GRCm39) missense probably damaging 1.00
R9066:Abca7 UTSW 10 79,849,188 (GRCm39) missense probably damaging 0.98
R9116:Abca7 UTSW 10 79,838,973 (GRCm39) missense
R9128:Abca7 UTSW 10 79,838,352 (GRCm39) missense possibly damaging 0.95
R9141:Abca7 UTSW 10 79,851,264 (GRCm39) missense possibly damaging 0.82
R9184:Abca7 UTSW 10 79,838,690 (GRCm39) missense probably damaging 0.97
R9246:Abca7 UTSW 10 79,838,535 (GRCm39) missense probably damaging 1.00
R9320:Abca7 UTSW 10 79,833,471 (GRCm39) missense possibly damaging 0.55
R9426:Abca7 UTSW 10 79,851,264 (GRCm39) missense possibly damaging 0.82
R9490:Abca7 UTSW 10 79,834,601 (GRCm39) missense probably benign
R9561:Abca7 UTSW 10 79,837,535 (GRCm39) missense probably damaging 1.00
R9672:Abca7 UTSW 10 79,838,563 (GRCm39) missense probably null 1.00
Z1176:Abca7 UTSW 10 79,842,393 (GRCm39) missense probably damaging 1.00
Z1176:Abca7 UTSW 10 79,835,266 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCAATGGACATTTGTGCCACATGC -3'
(R):5'- AATGCCCCTTACCGCAGCTAAGAG -3'

Sequencing Primer
(F):5'- TGGCGCTCACTGTGAAG -3'
(R):5'- GGCCACACACAGTACGTAGG -3'
Posted On 2013-06-12