Incidental Mutation 'R2187:Abcg1'
ID 237901
Institutional Source Beutler Lab
Gene Symbol Abcg1
Ensembl Gene ENSMUSG00000024030
Gene Name ATP binding cassette subfamily G member 1
Synonyms White, Abc8
MMRRC Submission 040189-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # R2187 (G1)
Quality Score 206
Status Not validated
Chromosome 17
Chromosomal Location 31276668-31336958 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31324491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 245 (S245R)
Ref Sequence ENSEMBL: ENSMUSP00000024829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024829]
AlphaFold Q64343
Predicted Effect probably damaging
Transcript: ENSMUST00000024829
AA Change: S245R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000024829
Gene: ENSMUSG00000024030
AA Change: S245R

DomainStartEndE-ValueType
low complexity region 28 47 N/A INTRINSIC
AAA 110 293 1.28e-14 SMART
Pfam:ABC2_membrane 391 602 1.4e-48 PFAM
transmembrane domain 636 658 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The human protein is involved in macrophage cholesterol efflux and may regulate cellular lipid homeostasis in other cell types. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal lipid homeostasis, increased numbers of multiple immune cell types, and abnormal response to a high fat diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI597479 T A 1: 43,139,983 (GRCm39) W70R probably damaging Het
Ankrd55 A G 13: 112,520,039 (GRCm39) S575G probably benign Het
Bfsp2 T A 9: 103,303,976 (GRCm39) K343* probably null Het
Cant1 A T 11: 118,299,667 (GRCm39) Y227* probably null Het
Cd2bp2 T C 7: 126,793,963 (GRCm39) N109D probably benign Het
Chmp6 A G 11: 119,807,562 (GRCm39) E135G possibly damaging Het
Dsp T G 13: 38,360,383 (GRCm39) S329R probably damaging Het
Epha5 A T 5: 84,234,223 (GRCm39) F767L probably damaging Het
Epha7 A T 4: 28,942,648 (GRCm39) T566S possibly damaging Het
Erap1 A T 13: 74,810,524 (GRCm39) I288F probably damaging Het
Erich6 A G 3: 58,537,266 (GRCm39) probably null Het
Fbxo10 A G 4: 45,058,531 (GRCm39) V402A probably benign Het
Fndc1 T A 17: 7,960,604 (GRCm39) I1604F probably damaging Het
Foxd4 T G 19: 24,877,219 (GRCm39) Q327P probably damaging Het
Fxn T A 19: 24,257,853 (GRCm39) N26I probably benign Het
Hsf5 G T 11: 87,529,010 (GRCm39) G582C possibly damaging Het
Itga8 A G 2: 12,199,231 (GRCm39) V522A possibly damaging Het
Kplce A G 3: 92,775,922 (GRCm39) S254P probably damaging Het
Lyst C T 13: 13,883,926 (GRCm39) T2938I possibly damaging Het
Mib2 T C 4: 155,739,390 (GRCm39) E863G possibly damaging Het
Mrgpra9 A G 7: 46,884,797 (GRCm39) F290S probably damaging Het
Mst1 T C 9: 107,961,539 (GRCm39) Y599H possibly damaging Het
Mylk4 T C 13: 32,905,996 (GRCm39) I165V probably damaging Het
Nipsnap2 T C 5: 129,823,537 (GRCm39) probably null Het
Nol8 T C 13: 49,815,475 (GRCm39) Y528H probably benign Het
Nup93 T A 8: 95,027,478 (GRCm39) S295R probably damaging Het
Nutm2 A T 13: 50,621,453 (GRCm39) Q6L probably benign Het
Or2b6 A T 13: 21,823,555 (GRCm39) I46N probably damaging Het
Or5ak20 T G 2: 85,184,259 (GRCm39) S4R probably benign Het
Or5b12b T A 19: 12,861,619 (GRCm39) C125S probably damaging Het
Or6c33 A G 10: 129,853,557 (GRCm39) E109G probably damaging Het
Pip5k1a A T 3: 94,979,229 (GRCm39) L189Q probably damaging Het
Plekha4 C T 7: 45,198,698 (GRCm39) R574C probably damaging Het
Ppp2cb A G 8: 34,100,705 (GRCm39) E42G possibly damaging Het
Prkd3 T A 17: 79,282,983 (GRCm39) Q244L probably benign Het
Ptpn14 C T 1: 189,595,425 (GRCm39) R1023* probably null Het
Ptpra A G 2: 130,346,219 (GRCm39) T127A probably benign Het
Rad54l2 ACCTCCTCCTCCTCCTCCTCCTCCTC ACCTCCTCCTCCTCCTCCTCCTC 9: 106,631,191 (GRCm39) probably benign Het
Rasgrf1 T C 9: 89,876,888 (GRCm39) I751T possibly damaging Het
Rbm27 A G 18: 42,459,022 (GRCm39) K697R probably damaging Het
Rhoa C T 9: 108,212,352 (GRCm39) T127M probably benign Het
Rnpepl1 A G 1: 92,844,617 (GRCm39) S370G probably null Het
Sdk1 C T 5: 142,100,329 (GRCm39) T1453I probably damaging Het
Sel1l2 A G 2: 140,072,793 (GRCm39) L614S probably damaging Het
Slc6a20b T A 9: 123,427,653 (GRCm39) I419F probably damaging Het
Slc8a1 C T 17: 81,955,982 (GRCm39) S352N possibly damaging Het
Spta1 A G 1: 174,020,532 (GRCm39) D547G probably damaging Het
Tc2n G A 12: 101,672,803 (GRCm39) T46I probably damaging Het
Terb1 T A 8: 105,199,516 (GRCm39) Y476F probably benign Het
Trim12a T A 7: 103,953,399 (GRCm39) E237D probably damaging Het
Usp47 T C 7: 111,666,398 (GRCm39) L309P probably damaging Het
Other mutations in Abcg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01962:Abcg1 APN 17 31,324,514 (GRCm39) missense probably benign 0.11
IGL02496:Abcg1 APN 17 31,324,578 (GRCm39) missense probably damaging 0.98
IGL03264:Abcg1 APN 17 31,283,428 (GRCm39) missense probably benign 0.10
PIT4362001:Abcg1 UTSW 17 31,283,398 (GRCm39) missense possibly damaging 0.81
R0682:Abcg1 UTSW 17 31,330,225 (GRCm39) missense probably benign 0.13
R1036:Abcg1 UTSW 17 31,330,243 (GRCm39) missense probably damaging 1.00
R1109:Abcg1 UTSW 17 31,330,210 (GRCm39) missense probably benign 0.01
R1401:Abcg1 UTSW 17 31,333,132 (GRCm39) missense possibly damaging 0.93
R1500:Abcg1 UTSW 17 31,330,253 (GRCm39) missense probably benign 0.11
R2504:Abcg1 UTSW 17 31,311,369 (GRCm39) missense probably damaging 0.98
R3744:Abcg1 UTSW 17 31,330,190 (GRCm39) splice site probably benign
R4632:Abcg1 UTSW 17 31,283,447 (GRCm39) missense probably benign
R4657:Abcg1 UTSW 17 31,327,408 (GRCm39) missense probably benign 0.13
R4679:Abcg1 UTSW 17 31,333,235 (GRCm39) missense probably benign 0.31
R4845:Abcg1 UTSW 17 31,333,057 (GRCm39) missense possibly damaging 0.94
R5061:Abcg1 UTSW 17 31,311,366 (GRCm39) missense probably damaging 1.00
R5685:Abcg1 UTSW 17 31,317,260 (GRCm39) nonsense probably null
R6743:Abcg1 UTSW 17 31,327,321 (GRCm39) missense possibly damaging 0.92
R7084:Abcg1 UTSW 17 31,325,105 (GRCm39) missense probably benign
R7521:Abcg1 UTSW 17 31,283,543 (GRCm39) missense probably benign 0.15
R7716:Abcg1 UTSW 17 31,328,493 (GRCm39) missense probably benign 0.05
R7866:Abcg1 UTSW 17 31,317,269 (GRCm39) nonsense probably null
R7973:Abcg1 UTSW 17 31,323,132 (GRCm39) missense probably damaging 0.98
R8058:Abcg1 UTSW 17 31,324,504 (GRCm39) missense probably benign
R8087:Abcg1 UTSW 17 31,283,459 (GRCm39) missense probably benign 0.04
R9327:Abcg1 UTSW 17 31,333,122 (GRCm39) missense probably benign
Z1177:Abcg1 UTSW 17 31,325,140 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- CATATACAGCCCCTGTGGAAG -3'
(R):5'- CCTGTCAGGGATCTTAGGATGG -3'

Sequencing Primer
(F):5'- TGGAAGTGTCACCCTTGAAC -3'
(R):5'- AGTCTGGGGTAAGAATCCTGG -3'
Posted On 2014-10-02