Incidental Mutation 'R2973:Abca7'
ID 255288
Institutional Source Beutler Lab
Gene Symbol Abca7
Ensembl Gene ENSMUSG00000035722
Gene Name ATP-binding cassette, sub-family A member 7
Synonyms Abc51
MMRRC Submission 040526-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2973 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 79832328-79851406 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 79844801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 1508 (F1508V)
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: F1500V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043090
Gene: ENSMUSG00000035722
AA Change: F1500V

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: F1500V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115111
Gene: ENSMUSG00000035722
AA Change: F1500V

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: F1508V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128121
Gene: ENSMUSG00000035722
AA Change: F1508V

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 0.6253 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 98% (44/45)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl7 T A 4: 148,584,671 (GRCm39) K26* probably null Het
Aoc1l1 A G 6: 48,953,358 (GRCm39) T428A probably benign Het
BC048507 T C 13: 68,011,749 (GRCm39) I42T probably benign Het
Cald1 A G 6: 34,734,931 (GRCm39) probably benign Het
Ces5a A G 8: 94,255,132 (GRCm39) F187S probably damaging Het
Chd3 A G 11: 69,251,442 (GRCm39) Y530H probably damaging Het
Crnkl1 A G 2: 145,774,181 (GRCm39) L94P probably benign Het
Cst9 G T 2: 148,677,145 (GRCm39) probably null Het
Cstdc2 T C 2: 148,692,706 (GRCm39) D32G probably benign Het
D930007J09Rik C T 13: 32,986,742 (GRCm39) probably benign Het
Dcaf10 T C 4: 45,373,957 (GRCm39) S461P probably benign Het
Dhx36 T A 3: 62,402,916 (GRCm39) N279Y probably benign Het
Dhx36 C G 3: 62,402,919 (GRCm39) G278R possibly damaging Het
Eps8l3 T C 3: 107,798,644 (GRCm39) I510T probably damaging Het
Gab2 A G 7: 96,872,759 (GRCm39) E54G probably benign Het
Gsdme A G 6: 50,206,304 (GRCm39) C180R probably damaging Het
Hesx1 A G 14: 26,722,599 (GRCm39) probably benign Het
Il5ra G A 6: 106,718,196 (GRCm39) P86L probably benign Het
Jakmip1 A G 5: 37,248,871 (GRCm39) K177R probably damaging Het
Larp4b T C 13: 9,216,347 (GRCm39) probably benign Het
Lrrc42 A T 4: 107,096,311 (GRCm39) D40E probably damaging Het
Mefv G A 16: 3,533,558 (GRCm39) R238* probably null Het
Mroh9 A T 1: 162,884,338 (GRCm39) M400K probably damaging Het
Or12j2 T G 7: 139,916,300 (GRCm39) F175C probably damaging Het
Or5ac22 A C 16: 59,135,767 (GRCm39) M1R probably null Het
Or5d37 A G 2: 87,923,458 (GRCm39) L274P probably benign Het
Plec C G 15: 76,072,961 (GRCm39) G631R probably damaging Het
Polr3b A G 10: 84,464,144 (GRCm39) K35E probably benign Het
Ppef2 T C 5: 92,386,953 (GRCm39) E328G probably benign Het
Rogdi G T 16: 4,829,526 (GRCm39) Q90K probably damaging Het
Rtn1 C A 12: 72,270,163 (GRCm39) R116L probably damaging Het
Septin14 T C 5: 129,776,086 (GRCm39) H31R probably benign Het
Serpinb9e T A 13: 33,439,126 (GRCm39) V184E probably benign Het
Slc10a5 A T 3: 10,399,517 (GRCm39) I381N probably damaging Het
Slit1 G A 19: 41,599,455 (GRCm39) P1032L probably benign Het
Sptlc3 A G 2: 139,431,581 (GRCm39) T368A probably damaging Het
Tm9sf1 T A 14: 55,878,571 (GRCm39) T274S probably benign Het
Tpgs1 A G 10: 79,505,449 (GRCm39) E69G probably damaging Het
Trpv5 T C 6: 41,630,165 (GRCm39) S642G possibly damaging Het
Ttn A C 2: 76,632,661 (GRCm39) I12385S probably damaging Het
Ube2e2 T C 14: 18,630,321 (GRCm38) D137G possibly damaging Het
Ubr4 T C 4: 139,133,847 (GRCm39) Y748H probably benign Het
Ugt8a T C 3: 125,708,957 (GRCm39) H51R probably benign Het
Vcp T A 4: 42,996,315 (GRCm39) I16F probably damaging Het
Vmn2r117 A G 17: 23,678,830 (GRCm39) V798A 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
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'- GGAATGCGCTAGACCGTATC -3'
(R):5'- AAGAAAGGTTCCAATCCAGTCTC -3'

Sequencing Primer
(F):5'- TGCGCTAGACCGTATCCTGAAC -3'
(R):5'- GTCTCCACCACCCCTGAG -3'
Posted On 2014-12-29