Incidental Mutation 'R9004:Abca7'
ID 685155
Institutional Source Beutler Lab
Gene Symbol Abca7
Ensembl Gene ENSMUSG00000035722
Gene Name ATP-binding cassette, sub-family A member 7
Synonyms Abc51
MMRRC Submission 068834-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9004 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 79832328-79851406 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 79841483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 941 (M941K)
Ref Sequence ENSEMBL: ENSMUSP00000128121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043866] [ENSMUST00000132517] [ENSMUST00000171637]
AlphaFold Q91V24
Predicted Effect probably damaging
Transcript: ENSMUST00000043866
AA Change: M941K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000043090
Gene: ENSMUSG00000035722
AA Change: M941K

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 damaging
Transcript: ENSMUST00000132517
AA Change: M941K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115111
Gene: ENSMUSG00000035722
AA Change: M941K

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 damaging
Transcript: ENSMUST00000171637
AA Change: M941K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000128121
Gene: ENSMUSG00000035722
AA Change: M941K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.3%
Validation Efficiency 100% (69/69)
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
1700017N19Rik T A 10: 100,454,197 (GRCm39) probably benign Het
2310057N15Rik C A 16: 88,570,986 (GRCm39) C18F probably damaging Het
Abcd2 A G 15: 91,075,051 (GRCm39) I254T probably benign Het
Abcg8 C A 17: 85,004,790 (GRCm39) T519K probably benign Het
Adcy9 A G 16: 4,106,378 (GRCm39) V1149A probably damaging Het
Alg10b A G 15: 90,109,894 (GRCm39) Y69C probably damaging Het
Arhgef10l T C 4: 140,279,921 (GRCm39) D529G probably damaging Het
Ascc3 T A 10: 50,718,276 (GRCm39) C1990S probably benign Het
BC034090 T A 1: 155,102,138 (GRCm39) N42I possibly damaging Het
Bptf G A 11: 106,945,713 (GRCm39) P2509S probably damaging Het
Carmil1 T A 13: 24,225,662 (GRCm39) D1042V probably damaging Het
Ccny A G 18: 9,332,883 (GRCm39) V216A possibly damaging Het
Cdr2 T C 7: 120,557,722 (GRCm39) N268D probably benign Het
Cep152 T C 2: 125,453,020 (GRCm39) S351G probably benign Het
Chrm1 T C 19: 8,655,909 (GRCm39) C205R possibly damaging Het
Dalrd3 C A 9: 108,449,430 (GRCm39) D454E probably benign Het
Dmbt1 T C 7: 130,713,798 (GRCm39) L1622P unknown Het
Eif2s2 A G 2: 154,720,404 (GRCm39) Y172H probably benign Het
Ell T A 8: 71,031,604 (GRCm39) S101T probably damaging Het
Faf1 A G 4: 109,698,550 (GRCm39) T337A probably benign Het
Fhad1 A T 4: 141,649,735 (GRCm39) probably benign Het
Gen1 T C 12: 11,305,022 (GRCm39) probably benign Het
Gfap A G 11: 102,782,268 (GRCm39) I414T probably benign Het
Ginm1 A C 10: 7,651,019 (GRCm39) V129G probably damaging Het
Helq C T 5: 100,926,598 (GRCm39) probably benign Het
Hoxb3 A G 11: 96,237,137 (GRCm39) D405G possibly damaging Het
Hsp90aa1 A G 12: 110,659,045 (GRCm39) V584A probably damaging Het
Iglc2 T C 16: 19,017,425 (GRCm39) K59R probably benign Het
Inhba T C 13: 16,201,526 (GRCm39) S363P probably benign Het
Kif1c A G 11: 70,615,958 (GRCm39) K656E probably benign Het
Mroh4 G T 15: 74,486,171 (GRCm39) L492I possibly damaging Het
Mthfd1 C T 12: 76,350,754 (GRCm39) T712M probably benign Het
Naaladl1 C A 19: 6,155,965 (GRCm39) D46E probably damaging Het
Nbea C T 3: 55,910,359 (GRCm39) V1279I probably benign Het
Nceh1 T A 3: 27,293,726 (GRCm39) D161E possibly damaging Het
Nck2 A T 1: 43,593,510 (GRCm39) N239I Het
Nlrx1 C T 9: 44,167,644 (GRCm39) R751H probably benign Het
Or10ag54 T A 2: 87,099,695 (GRCm39) F190Y possibly damaging Het
Or8b46 A G 9: 38,450,530 (GRCm39) Y113C probably benign Het
Or8g17 C A 9: 38,930,580 (GRCm39) V86L probably benign Het
Oscar A T 7: 3,619,040 (GRCm39) C13S possibly damaging Het
Pappa2 T A 1: 158,763,979 (GRCm39) I511F probably damaging Het
Pappa2 T C 1: 158,764,518 (GRCm39) D331G possibly damaging Het
Pde4c C T 8: 71,199,515 (GRCm39) S265L possibly damaging Het
Pex1 A G 5: 3,662,914 (GRCm39) S502G probably benign Het
Pigl A G 11: 62,403,779 (GRCm39) Y237C probably damaging Het
Pkd1 A T 17: 24,799,421 (GRCm39) Q2880L probably benign Het
Pkhd1l1 A T 15: 44,406,768 (GRCm39) H2335L probably benign Het
Ppp1r17 A G 6: 56,008,513 (GRCm39) E151G probably damaging Het
Ppp1r27 A G 11: 120,441,849 (GRCm39) Y11H probably damaging Het
Prss54 C A 8: 96,292,137 (GRCm39) K147N possibly damaging Het
Ptchd3 T A 11: 121,732,687 (GRCm39) F526I possibly damaging Het
Ptprt T C 2: 161,608,314 (GRCm39) N661D probably benign Het
Rfpl4b T C 10: 38,697,771 (GRCm39) probably benign Het
Sdad1 T C 5: 92,439,820 (GRCm39) T402A probably benign Het
Stk32c T C 7: 138,702,859 (GRCm39) D178G probably damaging Het
Tas2r119 T C 15: 32,178,109 (GRCm39) L225P probably damaging Het
Tdpoz4 A T 3: 93,704,018 (GRCm39) E105V probably benign Het
Tlk1 A G 2: 70,552,290 (GRCm39) I520T probably damaging Het
Tmf1 A G 6: 97,152,738 (GRCm39) V445A probably benign Het
Tomm6 T C 17: 47,998,833 (GRCm39) D40G possibly damaging Het
Traf6 C A 2: 101,520,443 (GRCm39) Q164K probably benign Het
Tspoap1 A G 11: 87,670,284 (GRCm39) H150R Het
Ube2g2 A T 10: 77,479,434 (GRCm39) M126L probably benign Het
Unc45b A G 11: 82,819,515 (GRCm39) D496G probably damaging Het
Vmn1r74 A C 7: 11,580,840 (GRCm39) I47L probably benign Het
Vmn2r88 A T 14: 51,650,624 (GRCm39) L112F Het
Wwc2 A C 8: 48,373,732 (GRCm39) L45V probably damaging Het
Zfp459 A C 13: 67,556,714 (GRCm39) I123R probably damaging 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
R0507:Abca7 UTSW 10 79,838,655 (GRCm39) splice site probably benign
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
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'- GGTCACAGTAACAATGTCTCTCC -3'
(R):5'- TTTGGTCCCTCAAACAGAAACC -3'

Sequencing Primer
(F):5'- TGGGCAGATATCAACCCTCTG -3'
(R):5'- GTCCCTCAAACAGAAACCAAGGG -3'
Posted On 2021-10-11