Incidental Mutation 'R8830:Abca7'
ID 673757
Institutional Source Beutler Lab
Gene Symbol Abca7
Ensembl Gene ENSMUSG00000035722
Gene Name ATP-binding cassette, sub-family A member 7
Synonyms Abc51
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8830 (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 79844805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 1509 (V1509E)
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: V1501E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000043090
Gene: ENSMUSG00000035722
AA Change: V1501E

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: V1501E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000115111
Gene: ENSMUSG00000035722
AA Change: V1501E

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: V1509E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000128121
Gene: ENSMUSG00000035722
AA Change: V1509E

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 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (68/68)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A T 3: 59,654,744 (GRCm39) T193S probably benign Het
Abraxas2 A G 7: 132,485,085 (GRCm39) D376G probably damaging Het
Agbl1 A G 7: 75,985,059 (GRCm39) T159A Het
Ahnak2 G A 12: 112,750,656 (GRCm39) R89W Het
Ajm1 T G 2: 25,467,262 (GRCm39) D883A Het
Arhgef40 A C 14: 52,241,165 (GRCm39) D1396A probably damaging Het
Atp13a5 A T 16: 29,066,928 (GRCm39) F1060I probably damaging Het
Atp6v1c1 T A 15: 38,677,789 (GRCm39) F105I probably damaging Het
Atp9b C T 18: 80,809,015 (GRCm39) E635K Het
Brix1 T A 15: 10,479,682 (GRCm39) Q124L possibly damaging Het
Cep68 A G 11: 20,180,418 (GRCm39) probably benign Het
Cfap46 A G 7: 139,195,565 (GRCm39) S2208P unknown Het
Crisp1 T A 17: 40,605,310 (GRCm39) K234* probably null Het
Cryzl1 C T 16: 91,509,092 (GRCm39) V70I probably benign Het
Cybc1 C T 11: 121,119,549 (GRCm39) probably benign Het
Dnah7b T C 1: 46,230,953 (GRCm39) Y1404H probably damaging Het
Dot1l A G 10: 80,607,033 (GRCm39) H109R possibly damaging Het
E330034G19Rik A C 14: 24,359,576 (GRCm39) H329P unknown Het
Erbb4 A T 1: 68,114,627 (GRCm39) L939Q probably damaging Het
Fst A T 13: 114,592,364 (GRCm39) C118S probably damaging Het
Gfra3 A G 18: 34,844,189 (GRCm39) V117A possibly damaging Het
Gldc C G 19: 30,078,212 (GRCm39) M928I probably benign Het
Greb1 A G 12: 16,738,520 (GRCm39) M1481T probably benign Het
Hecw2 G A 1: 53,930,305 (GRCm39) R1045C probably damaging Het
Hexb C T 13: 97,330,762 (GRCm39) V84I probably benign Het
Hpse T C 5: 100,843,452 (GRCm39) E240G probably benign Het
Hspa12a T C 19: 58,793,895 (GRCm39) D322G possibly damaging Het
Hspa9 A T 18: 35,081,157 (GRCm39) probably null Het
Kif9 A G 9: 110,353,998 (GRCm39) K790R probably damaging Het
Klc2 C T 19: 5,160,394 (GRCm39) probably null Het
Ldha C G 7: 46,499,702 (GRCm39) N144K probably benign Het
Mical2 A G 7: 111,980,403 (GRCm39) T126A probably benign Het
Mrpl15 A T 1: 4,852,807 (GRCm39) V137D probably damaging Het
Muc16 G A 9: 18,557,365 (GRCm39) T2976I unknown Het
Mybpc2 A T 7: 44,161,965 (GRCm39) V495D probably damaging Het
Or10a5 A G 7: 106,635,889 (GRCm39) N176D probably benign Het
Or52ab2 A G 7: 102,970,212 (GRCm39) K198R Het
Or6c203 A T 10: 129,010,715 (GRCm39) Y58* probably null Het
Pcnt G A 10: 76,218,008 (GRCm39) T2089I probably benign Het
Pdzd7 T C 19: 45,021,512 (GRCm39) D563G probably damaging Het
Phlpp1 T G 1: 106,278,333 (GRCm39) L915R probably damaging Het
Plekhh2 T A 17: 84,829,231 (GRCm39) I34N probably damaging Het
Pou6f2 T A 13: 18,553,083 (GRCm39) T84S Het
Prxl2c G A 13: 64,445,114 (GRCm39) Q170* probably null Het
Ptprq A G 10: 107,422,556 (GRCm39) V1612A possibly damaging Het
Pvrig-ps T G 5: 138,340,410 (GRCm39) probably benign Het
Rasl10b A T 11: 83,303,502 (GRCm39) I20F probably damaging Het
Rimbp3 T A 16: 17,026,870 (GRCm39) V98E probably damaging Het
Rims2 T C 15: 39,300,758 (GRCm39) I355T possibly damaging Het
Slc1a2 A G 2: 102,566,360 (GRCm39) H30R probably benign Het
Slc28a1 G A 7: 80,810,794 (GRCm39) V389M possibly damaging Het
Slc7a13 T C 4: 19,819,189 (GRCm39) S130P probably benign Het
Sp140 TTTTTTTT TTTTTTTTTTTTT 1: 85,572,295 (GRCm39) probably benign Het
Spag17 T A 3: 100,032,751 (GRCm39) H2320Q possibly damaging Het
Speer4a1 T C 5: 26,241,793 (GRCm39) E111G possibly damaging Het
Ss18l1 T C 2: 179,709,131 (GRCm39) Y397H unknown Het
Tbck T C 3: 132,543,818 (GRCm39) S890P probably damaging Het
Tcp11 T C 17: 28,299,204 (GRCm39) E17G probably benign Het
Tesk2 C T 4: 116,659,484 (GRCm39) R315C probably benign Het
Tln1 T C 4: 43,556,383 (GRCm39) N45S probably benign Het
Trim10 C T 17: 37,180,846 (GRCm39) P26S probably damaging Het
Vmac C A 17: 57,022,573 (GRCm39) G146C probably damaging Het
Vmn1r14 G A 6: 57,211,017 (GRCm39) M198I probably damaging Het
Vmn1r194 T C 13: 22,429,006 (GRCm39) Y208H possibly damaging Het
Vmn1r78 G A 7: 11,887,118 (GRCm39) C243Y probably damaging Het
Wasf3 C T 5: 146,403,672 (GRCm39) Q261* probably null Het
Ybx2 A G 11: 69,827,063 (GRCm39) K88R probably benign Het
Zfhx4 G A 3: 5,463,949 (GRCm39) R1394H probably damaging Het
Zfp871 T C 17: 32,993,901 (GRCm39) T425A probably benign Het
Zfy2 C T Y: 2,106,600 (GRCm39) S678N possibly damaging Het
Zswim4 T C 8: 84,949,945 (GRCm39) E650G possibly 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
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'- TGAACAACCTCACTCAGTGG -3'
(R):5'- TTTGTCACTAGCCCTGAGC -3'

Sequencing Primer
(F):5'- TCACTCAGTGGGCCCTTG -3'
(R):5'- GAAAGGTTCCAATCCAGTCTCC -3'
Posted On 2021-07-15