Incidental Mutation 'PIT4362001:Abcg1'
ID 554656
Institutional Source Beutler Lab
Gene Symbol Abcg1
Ensembl Gene ENSMUSG00000024030
Gene Name ATP binding cassette subfamily G member 1
Synonyms White, Abc8
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.259) question?
Stock # PIT4362001 (G1)
Quality Score 168.009
Status Not validated
Chromosome 17
Chromosomal Location 31057698-31115777 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31064424 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 28 (S28P)
Ref Sequence ENSEMBL: ENSMUSP00000024829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024829]
AlphaFold Q64343
Predicted Effect possibly damaging
Transcript: ENSMUST00000024829
AA Change: S28P

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000024829
Gene: ENSMUSG00000024030
AA Change: S28P

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: 93.4%
  • 3x: 91.2%
  • 10x: 87.0%
  • 20x: 78.3%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c14 T C 13: 4,079,100 V165A probably damaging Het
Aox2 A T 1: 58,282,680 T44S probably damaging Het
Arhgap29 T A 3: 122,003,212 N482K probably benign Het
Arhgef38 T A 3: 133,160,830 D182V Het
Atad5 C T 11: 80,111,567 H1062Y probably benign Het
Atp6v0b A G 4: 117,885,256 S147P possibly damaging Het
Cblb T A 16: 52,139,542 Y299* probably null Het
Ccdc28b T C 4: 129,621,025 N97S probably benign Het
Cdh23 A G 10: 60,465,458 V479A probably benign Het
Chuk A G 19: 44,098,583 probably null Het
Cmtr2 G A 8: 110,222,336 G426D probably damaging Het
Cog4 G A 8: 110,866,672 D472N probably damaging Het
Creb3 T A 4: 43,565,472 L193* probably null Het
Cxcr6 A T 9: 123,810,461 I183F probably benign Het
Dbf4 A G 5: 8,403,664 F253L probably benign Het
Dcaf8 T C 1: 172,172,797 V174A probably damaging Het
Ddhd2 T C 8: 25,735,752 Y526C probably damaging Het
Dnal4 A G 15: 79,763,565 V33A probably benign Het
Egfl7 C T 2: 26,591,040 P188L probably benign Het
Ephb3 A G 16: 21,220,857 E707G probably damaging Het
Epn3 C T 11: 94,496,523 R7H probably damaging Het
Fam198b C A 3: 79,886,939 S238Y possibly damaging Het
Fbp1 T A 13: 62,867,380 I262F probably damaging Het
Fgfbp3 G A 19: 36,918,688 R177* probably null Het
Gbp5 T C 3: 142,500,710 S52P probably damaging Het
Glb1l2 A T 9: 26,773,981 S282T probably benign Het
Glg1 A T 8: 111,258,799 V133E possibly damaging Het
Gm4787 T G 12: 81,377,175 L736F probably benign Het
Gm5565 A T 5: 146,158,299 S212R probably benign Het
Grin2c T C 11: 115,249,633 T1220A probably benign Het
Grp T G 18: 65,886,226 S133A probably benign Het
Gstp2 C A 19: 4,040,713 D147Y possibly damaging Het
Igkv14-130 T C 6: 67,791,408 F84L probably damaging Het
Inppl1 T C 7: 101,826,013 R944G probably benign Het
Lama2 A T 10: 27,369,136 N216K probably damaging Het
Lrp2 T A 2: 69,537,538 D210V probably damaging Het
Lrrc2 A T 9: 110,962,540 Q120L possibly damaging Het
Lrriq1 A G 10: 103,071,194 I1555T probably benign Het
Map2 G A 1: 66,412,518 G189D probably benign Het
Mdc1 A G 17: 35,844,469 E12G possibly damaging Het
Mdga2 T C 12: 66,797,768 D152G possibly damaging Het
Med23 A G 10: 24,874,571 M99V probably benign Het
Mutyh G A 4: 116,817,070 V273M probably damaging Het
Neurod2 T A 11: 98,327,882 Y152F probably damaging Het
Olfr1002 A C 2: 85,647,724 L199R probably damaging Het
Olfr1177-ps C T 2: 88,344,013 A247T probably benign Het
Olfr898 G T 9: 38,349,198 L32F probably benign Het
Pcdh20 G C 14: 88,467,026 P946R probably damaging Het
Pde6b T C 5: 108,423,585 probably null Het
Pdzrn4 A T 15: 92,769,881 D638V possibly damaging Het
Polr1b A G 2: 129,109,292 D275G possibly damaging Het
Rnf157 T A 11: 116,360,317 D127V probably damaging Het
Rspo4 T A 2: 151,867,883 C69* probably null Het
Scara3 T C 14: 65,936,402 T63A probably benign Het
Scn2a G A 2: 65,683,838 E289K probably benign Het
Sh3gl2 A G 4: 85,377,549 T163A probably benign Het
Slc2a10 T A 2: 165,516,293 F446Y probably damaging Het
Snapc1 C T 12: 73,982,495 R351C probably damaging Het
Snx6 A G 12: 54,768,030 Y169H possibly damaging Het
Stab2 A T 10: 86,861,435 C1996* probably null Het
Steap4 A G 5: 7,980,337 T398A probably benign Het
Tep1 A T 14: 50,866,053 L260Q probably benign Het
Tspan12 A T 6: 21,835,464 V70D possibly damaging Het
Ttn G A 2: 76,739,018 A27177V probably damaging Het
Ube3a T C 7: 59,276,122 V237A possibly damaging Het
Vil1 G A 1: 74,421,383 R233H probably damaging Het
Xrcc5 A G 1: 72,393,929 T716A probably benign Het
Zbp1 A G 2: 173,216,990 I18T probably damaging Het
Zfp292 A G 4: 34,807,524 V1845A probably benign Het
Zfp407 A T 18: 84,561,268 N573K possibly damaging Het
Zfp64 T C 2: 168,925,815 T626A probably benign Het
Other mutations in Abcg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01962:Abcg1 APN 17 31105540 missense probably benign 0.11
IGL02496:Abcg1 APN 17 31105604 missense probably damaging 0.98
IGL03264:Abcg1 APN 17 31064454 missense probably benign 0.10
R0682:Abcg1 UTSW 17 31111251 missense probably benign 0.13
R1036:Abcg1 UTSW 17 31111269 missense probably damaging 1.00
R1109:Abcg1 UTSW 17 31111236 missense probably benign 0.01
R1401:Abcg1 UTSW 17 31114158 missense possibly damaging 0.93
R1500:Abcg1 UTSW 17 31111279 missense probably benign 0.11
R2187:Abcg1 UTSW 17 31105517 missense probably damaging 0.99
R2504:Abcg1 UTSW 17 31092395 missense probably damaging 0.98
R3744:Abcg1 UTSW 17 31111216 splice site probably benign
R4632:Abcg1 UTSW 17 31064473 missense probably benign
R4657:Abcg1 UTSW 17 31108434 missense probably benign 0.13
R4679:Abcg1 UTSW 17 31114261 missense probably benign 0.31
R4845:Abcg1 UTSW 17 31114083 missense possibly damaging 0.94
R5061:Abcg1 UTSW 17 31092392 missense probably damaging 1.00
R5685:Abcg1 UTSW 17 31098286 nonsense probably null
R6743:Abcg1 UTSW 17 31108347 missense possibly damaging 0.92
R7084:Abcg1 UTSW 17 31106131 missense probably benign
R7521:Abcg1 UTSW 17 31064569 missense probably benign 0.15
R7716:Abcg1 UTSW 17 31109519 missense probably benign 0.05
R7866:Abcg1 UTSW 17 31098295 nonsense probably null
R7973:Abcg1 UTSW 17 31104158 missense probably damaging 0.98
R8058:Abcg1 UTSW 17 31105530 missense probably benign
R8087:Abcg1 UTSW 17 31064485 missense probably benign 0.04
R9327:Abcg1 UTSW 17 31114148 missense probably benign
Z1177:Abcg1 UTSW 17 31106166 missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- GCCAAGGGTATTCTAGAAAGGTC -3'
(R):5'- AACCTGTGGCTTCCTTCACG -3'

Sequencing Primer
(F):5'- AGTTCCTTCTTTCCAGAGC -3'
(R):5'- GCTGGTGGCTTCACTTCCTAC -3'
Posted On 2019-06-07