Incidental Mutation 'IGL01982:Abca7'
ID 182779
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01982
Quality Score
Status
Chromosome 10
Chromosomal Location 79832328-79851406 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 79838475 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 583 (L583R)
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: L583R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043090
Gene: ENSMUSG00000035722
AA Change: L583R

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: L583R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115111
Gene: ENSMUSG00000035722
AA Change: L583R

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: L583R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128121
Gene: ENSMUSG00000035722
AA Change: L583R

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
Validation Efficiency
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A C 1: 71,385,857 (GRCm39) S254A probably benign Het
Acp1 A T 12: 30,961,491 (GRCm39) L14H possibly damaging Het
Adar A G 3: 89,645,397 (GRCm39) I3V probably benign Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Aldh1l1 A G 6: 90,536,845 (GRCm39) I103V probably benign Het
Asic3 C A 5: 24,622,719 (GRCm39) T523N probably benign Het
Aspm T C 1: 139,419,326 (GRCm39) V1732A probably benign Het
Atad3a C T 4: 155,838,384 (GRCm39) R211Q possibly damaging Het
Bahcc1 A G 11: 120,178,299 (GRCm39) Y2286C probably damaging Het
BC034090 T C 1: 155,099,078 (GRCm39) E569G probably damaging Het
Bpifb3 A G 2: 153,767,521 (GRCm39) N237S probably benign Het
Bysl C A 17: 47,921,996 (GRCm39) probably null Het
C2cd6 T C 1: 59,106,932 (GRCm39) probably benign Het
Ccdc141 A G 2: 76,861,003 (GRCm39) F925L probably damaging Het
Cdca2 A T 14: 67,915,168 (GRCm39) V697E probably damaging Het
Cers1 A G 8: 70,776,081 (GRCm39) D324G probably damaging Het
Ctsq T A 13: 61,186,732 (GRCm39) I91F probably benign Het
Ctsq C T 13: 61,187,335 (GRCm39) C11Y probably benign Het
Cyp11b1 T C 15: 74,711,252 (GRCm39) N142S possibly damaging Het
Cyp3a59 G T 5: 146,041,545 (GRCm39) S363I probably benign Het
Eps15l1 A T 8: 73,132,919 (GRCm39) D567E probably benign Het
Esf1 G A 2: 140,006,448 (GRCm39) A233V probably benign Het
Fras1 A T 5: 96,887,107 (GRCm39) I2630F possibly damaging Het
Fyb1 A T 15: 6,609,658 (GRCm39) E77V probably null Het
Gjb6 C A 14: 57,362,030 (GRCm39) W77L probably damaging Het
Gm21983 A G 7: 26,879,703 (GRCm39) V88A possibly damaging Het
Gm8247 A G 14: 44,823,088 (GRCm39) T52A probably damaging Het
Gpr108 T C 17: 57,544,877 (GRCm39) K329E probably damaging Het
Gpr141 T A 13: 19,935,908 (GRCm39) H289L probably benign Het
Ilvbl T C 10: 78,414,856 (GRCm39) Y240H probably damaging Het
Kntc1 G A 5: 123,947,159 (GRCm39) A1868T probably benign Het
Lrmda A C 14: 22,634,550 (GRCm39) N112T probably damaging Het
Ly75 T C 2: 60,142,108 (GRCm39) Y1334C probably damaging Het
Macc1 C A 12: 119,409,369 (GRCm39) P46T probably benign Het
Madd A T 2: 91,006,052 (GRCm39) F381Y probably damaging Het
Map3k20 C T 2: 72,128,677 (GRCm39) Q38* probably null Het
Mcm4 A T 16: 15,448,284 (GRCm39) D424E possibly damaging Het
Micu1 T A 10: 59,699,100 (GRCm39) M463K possibly damaging Het
Mkrn2os A G 6: 115,562,492 (GRCm39) L157P probably damaging Het
Nectin2 A G 7: 19,451,487 (GRCm39) S516P probably damaging Het
Nme5 T A 18: 34,702,928 (GRCm39) D120V probably damaging Het
Npy4r T C 14: 33,869,282 (GRCm39) N2S possibly damaging Het
Nup107 A T 10: 117,595,245 (GRCm39) probably benign Het
Omd T C 13: 49,742,973 (GRCm39) Y8H possibly damaging Het
Phf8-ps T G 17: 33,285,289 (GRCm39) E504D probably benign Het
Ppp1r15a T C 7: 45,173,803 (GRCm39) probably benign Het
Ppp2ca T C 11: 51,989,891 (GRCm39) F6L probably benign Het
Rab1a T C 11: 20,174,717 (GRCm39) S97P probably benign Het
Ranbp3l G A 15: 9,058,827 (GRCm39) G359R probably damaging Het
Rnf213 A T 11: 119,334,094 (GRCm39) H3101L probably damaging Het
Slc27a4 T C 2: 29,702,627 (GRCm39) F509S probably damaging Het
Slco4a1 T C 2: 180,114,946 (GRCm39) V623A probably benign Het
Spart T A 3: 55,035,911 (GRCm39) probably null Het
Sptan1 A G 2: 29,909,980 (GRCm39) D1780G probably damaging Het
Tgm7 G T 2: 120,924,106 (GRCm39) Y605* probably null Het
Tmem106b T C 6: 13,071,968 (GRCm39) probably benign Het
Trak2 G A 1: 58,965,814 (GRCm39) A120V possibly damaging Het
Trappc8 G A 18: 21,007,769 (GRCm39) probably benign Het
Trim66 T C 7: 109,057,970 (GRCm39) T973A probably benign Het
Ttyh3 C A 5: 140,621,829 (GRCm39) probably benign Het
Ugt2b37 A C 5: 87,390,291 (GRCm39) I385S probably damaging Het
Usf3 A G 16: 44,039,180 (GRCm39) N1220S possibly damaging Het
Utrn A T 10: 12,623,773 (GRCm39) I155N probably damaging Het
Vps13b C T 15: 35,439,050 (GRCm39) Q377* probably null Het
Washc2 A T 6: 116,213,150 (GRCm39) E570D probably benign Het
Wscd1 T C 11: 71,657,699 (GRCm39) V168A possibly damaging Het
Zfp386 T A 12: 116,022,788 (GRCm39) C169S 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
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
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
Posted On 2014-05-07