Incidental Mutation 'IGL02309:Abcg4'
ID287715
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abcg4
Ensembl Gene ENSMUSG00000032131
Gene NameATP binding cassette subfamily G member 4
Synonyms6430517O04Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.201) question?
Stock #IGL02309
Quality Score
Status
Chromosome9
Chromosomal Location44273188-44288615 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 44281828 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 111 (F111S)
Ref Sequence ENSEMBL: ENSMUSP00000124647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034648] [ENSMUST00000160384] [ENSMUST00000161354] [ENSMUST00000161408] [ENSMUST00000162783]
Predicted Effect probably benign
Transcript: ENSMUST00000034648
AA Change: F111S

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000034648
Gene: ENSMUSG00000032131
AA Change: F111S

DomainStartEndE-ValueType
AAA 94 285 4.46e-14 SMART
Pfam:ABC2_membrane 372 583 1.6e-49 PFAM
transmembrane domain 616 638 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000085979
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159997
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160323
Predicted Effect probably benign
Transcript: ENSMUST00000160384
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161206
Predicted Effect probably benign
Transcript: ENSMUST00000161354
AA Change: F111S

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000124647
Gene: ENSMUSG00000032131
AA Change: F111S

DomainStartEndE-ValueType
AAA 94 285 4.46e-14 SMART
Pfam:ABC2_membrane 372 583 4.8e-47 PFAM
transmembrane domain 616 638 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161408
Predicted Effect probably benign
Transcript: ENSMUST00000162783
SMART Domains Protein: ENSMUSP00000123999
Gene: ENSMUSG00000032131

DomainStartEndE-ValueType
Blast:AAA 1 37 9e-20 BLAST
SCOP:d1gcya2 33 64 1e-2 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ATP-binding cassette (ABC) transporter superfamily. 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). The encoded protein is a member of the White subfamily and plays an important role in cellular cholesterol homeostasis. This protein functions as either a homodimer or as a heterodimer with another ABC subfamily protein such as ABCG1. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a report allele exhibit increased brain lathosterol levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg1l C A 10: 42,454,378 V98F possibly damaging Het
Agk T A 6: 40,376,276 D191E possibly damaging Het
Akap5 A G 12: 76,328,855 K354E possibly damaging Het
Aplp2 A T 9: 31,167,683 M323K possibly damaging Het
Arhgap23 T C 11: 97,466,001 probably benign Het
Asl A G 5: 130,019,781 Y30H probably damaging Het
Asxl3 T A 18: 22,522,453 H1173Q probably benign Het
Celsr2 C T 3: 108,396,011 R2472H probably damaging Het
Clip1 T A 5: 123,617,700 H950L probably damaging Het
Cx3cl1 A T 8: 94,780,032 T222S probably benign Het
Cyp4a14 T A 4: 115,491,632 N273Y probably damaging Het
Ddx52 T A 11: 83,948,478 S214T probably damaging Het
Dennd2d T A 3: 106,494,968 M318K probably benign Het
Dock3 A T 9: 106,913,152 D1E probably damaging Het
Farp1 C T 14: 121,243,516 T443I probably benign Het
Gm2381 C T 7: 42,822,609 probably benign Het
Gpr87 T A 3: 59,179,554 I178F possibly damaging Het
Grin2b C T 6: 135,736,472 E804K probably damaging Het
Gtf2h1 T C 7: 46,816,388 L421P probably damaging Het
Haghl T G 17: 25,784,664 H56P probably damaging Het
Heatr3 T C 8: 88,167,072 L489P probably damaging Het
Ighv6-6 A T 12: 114,434,914 H77Q probably benign Het
Kdm2b A G 5: 122,947,820 S243P probably damaging Het
Lamc3 T C 2: 31,914,604 probably benign Het
Lgr4 T C 2: 110,012,535 probably benign Het
Lhx3 T C 2: 26,201,373 Q308R probably benign Het
Lonp2 G A 8: 86,634,863 E223K probably damaging Het
Lta4h T C 10: 93,474,490 F407L probably damaging Het
Mndal C T 1: 173,874,455 G94R probably damaging Het
Nrxn3 A G 12: 89,976,407 N101S probably damaging Het
Olfr295 T C 7: 86,585,497 V74A possibly damaging Het
Olfr609 A T 7: 103,491,999 I293K probably damaging Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Olfr912 A G 9: 38,581,433 N52S probably damaging Het
Olfr930 A G 9: 38,931,052 N294D probably damaging Het
Pknox1 T G 17: 31,590,709 F96V probably benign Het
Psg25 T G 7: 18,526,424 Q183P probably damaging Het
Ptgs2 A G 1: 150,105,556 Y530C probably damaging Het
Sema3e T A 5: 14,224,390 D218E probably damaging Het
Shank1 G A 7: 44,312,842 G46R unknown Het
Sidt1 T C 16: 44,254,980 I672V probably benign Het
Slco1b2 T A 6: 141,672,281 S486T probably damaging Het
Smchd1 T C 17: 71,443,903 H340R probably benign Het
Smoc2 C A 17: 14,375,527 probably benign Het
Snapc1 A G 12: 73,968,027 Y102C probably damaging Het
Spo11 A G 2: 172,979,951 R20G probably damaging Het
Tlr1 A T 5: 64,925,947 L429* probably null Het
Tmem229b-ps T C 10: 53,475,370 noncoding transcript Het
Trim12c T A 7: 104,344,956 E230D possibly damaging Het
Ttc17 G T 2: 94,342,661 N796K probably benign Het
Ttc37 A G 13: 76,127,047 T238A possibly damaging Het
Ttn A G 2: 76,879,099 probably benign Het
Ublcp1 A T 11: 44,458,328 probably benign Het
Usf3 C T 16: 44,200,663 T11M probably benign Het
Vmn2r115 T A 17: 23,345,139 M95K probably benign Het
Wapl A G 14: 34,744,863 T1160A probably damaging Het
Other mutations in Abcg4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Abcg4 APN 9 44275142 splice site probably benign
IGL00585:Abcg4 APN 9 44281623 missense probably benign 0.04
IGL02016:Abcg4 APN 9 44287350 missense probably damaging 0.99
IGL02085:Abcg4 APN 9 44281557 critical splice donor site probably null
IGL02142:Abcg4 APN 9 44277717 missense probably benign 0.18
IGL02171:Abcg4 APN 9 44275009 unclassified probably benign
IGL02882:Abcg4 APN 9 44277489 nonsense probably null
R0009:Abcg4 UTSW 9 44277649 splice site probably benign
R0023:Abcg4 UTSW 9 44275375 missense probably damaging 0.99
R0481:Abcg4 UTSW 9 44279369 missense probably benign 0.07
R0513:Abcg4 UTSW 9 44281687 missense possibly damaging 0.61
R0644:Abcg4 UTSW 9 44274699 missense possibly damaging 0.87
R0649:Abcg4 UTSW 9 44278033 missense probably benign 0.00
R1084:Abcg4 UTSW 9 44277469 missense probably benign 0.27
R1518:Abcg4 UTSW 9 44275369 missense probably benign 0.05
R1528:Abcg4 UTSW 9 44274723 missense probably damaging 0.99
R1702:Abcg4 UTSW 9 44275073 missense probably damaging 0.99
R1932:Abcg4 UTSW 9 44279394 missense probably benign 0.16
R4477:Abcg4 UTSW 9 44275086 missense probably damaging 1.00
R4661:Abcg4 UTSW 9 44287330 missense probably damaging 1.00
R4883:Abcg4 UTSW 9 44279319 missense probably damaging 1.00
R4901:Abcg4 UTSW 9 44277657 critical splice donor site probably null
R5039:Abcg4 UTSW 9 44281566 missense probably damaging 1.00
R5209:Abcg4 UTSW 9 44275375 missense probably damaging 0.99
R5329:Abcg4 UTSW 9 44279545 missense probably benign 0.00
R5492:Abcg4 UTSW 9 44278058 missense probably benign 0.01
R5521:Abcg4 UTSW 9 44279683 unclassified probably benign
R5558:Abcg4 UTSW 9 44281408 missense probably damaging 0.99
R5625:Abcg4 UTSW 9 44278036 missense probably benign 0.42
R6318:Abcg4 UTSW 9 44275348 missense probably benign
R7060:Abcg4 UTSW 9 44275128 missense probably benign 0.13
R7129:Abcg4 UTSW 9 44279384 missense probably benign 0.03
R7431:Abcg4 UTSW 9 44274700 missense possibly damaging 0.87
R7452:Abcg4 UTSW 9 44279600 missense probably damaging 1.00
X0028:Abcg4 UTSW 9 44274634 makesense probably null
Posted On2015-04-16