Incidental Mutation 'R1084:Abcg4'
ID 84958
Institutional Source Beutler Lab
Gene Symbol Abcg4
Ensembl Gene ENSMUSG00000032131
Gene Name ATP binding cassette subfamily G member 4
Synonyms 6430517O04Rik
MMRRC Submission 039170-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.188) question?
Stock # R1084 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 44184485-44199912 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 44188766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 476 (V476M)
Ref Sequence ENSEMBL: ENSMUSP00000124647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034648] [ENSMUST00000160384] [ENSMUST00000161354] [ENSMUST00000161408] [ENSMUST00000162783]
AlphaFold Q91WA9
Predicted Effect probably benign
Transcript: ENSMUST00000034648
AA Change: V476M

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000034648
Gene: ENSMUSG00000032131
AA Change: V476M

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 probably benign
Transcript: ENSMUST00000161354
AA Change: V476M

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000124647
Gene: ENSMUSG00000032131
AA Change: V476M

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 noncoding transcript
Transcript: ENSMUST00000161206
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
Meta Mutation Damage Score 0.1756 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.3%
  • 20x: 93.7%
Validation Efficiency 100% (39/39)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T A 15: 60,790,004 (GRCm39) probably benign Het
Arhgap9 A G 10: 127,163,797 (GRCm39) S478G probably damaging Het
Blvra A G 2: 126,922,573 (GRCm39) T3A probably benign Het
Crygb C T 1: 65,119,654 (GRCm39) D109N possibly damaging Het
Cyp3a59 A T 5: 146,033,484 (GRCm39) T207S probably benign Het
Cyp4b1 A G 4: 115,497,509 (GRCm39) V163A probably benign Het
Dmxl2 A T 9: 54,323,717 (GRCm39) S1222R probably damaging Het
Dna2 C T 10: 62,784,966 (GRCm39) R28W probably benign Het
Dnah5 G A 15: 28,343,598 (GRCm39) V2333I probably benign Het
Eral1 C T 11: 77,965,324 (GRCm39) V364M probably damaging Het
Fat4 T C 3: 39,033,974 (GRCm39) V2542A possibly damaging Het
Glcci1 C T 6: 8,573,221 (GRCm39) Q50* probably null Het
Heg1 A G 16: 33,527,367 (GRCm39) D109G probably benign Het
Lama1 C A 17: 68,111,464 (GRCm39) S2238R probably benign Het
Ltbp1 G A 17: 75,666,420 (GRCm39) W1053* probably null Het
Ly6f T C 15: 75,140,622 (GRCm39) L15P probably damaging Het
Mapk8 T A 14: 33,110,760 (GRCm39) K290* probably null Het
Mbd1 A G 18: 74,402,603 (GRCm39) Y35C probably damaging Het
Mcf2l T C 8: 13,052,645 (GRCm39) V503A possibly damaging Het
Morc2a A G 11: 3,600,454 (GRCm39) probably benign Het
Ms4a8a T A 19: 11,053,726 (GRCm39) I127F probably damaging Het
Myo1d T C 11: 80,575,221 (GRCm39) Y165C probably damaging Het
Ocel1 G T 8: 71,824,632 (GRCm39) probably null Het
Plekhh2 C T 17: 84,878,554 (GRCm39) T603M probably damaging Het
Rab6b C T 9: 103,039,834 (GRCm39) T128M probably damaging Het
Scel G T 14: 103,802,279 (GRCm39) probably null Het
Sec23a A T 12: 59,031,921 (GRCm39) N436K probably damaging Het
Sec24a A G 11: 51,604,408 (GRCm39) L736P probably damaging Het
Sf3b1 C G 1: 55,058,554 (GRCm39) E12Q possibly damaging Het
Sulf1 AAGGGA AAGGGAGGGA 1: 12,906,388 (GRCm39) probably null Het
Tex15 A G 8: 34,067,032 (GRCm39) E2154G probably benign Het
Tnrc18 A G 5: 142,750,522 (GRCm39) probably null Het
Tpr A G 1: 150,317,912 (GRCm39) Q2140R probably benign Het
Zfp142 T C 1: 74,610,985 (GRCm39) R834G probably benign Het
Zfp276 G A 8: 123,981,462 (GRCm39) R3Q probably damaging Het
Zscan4d A T 7: 10,898,932 (GRCm39) L115Q probably damaging Het
Other mutations in Abcg4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Abcg4 APN 9 44,186,439 (GRCm39) splice site probably benign
IGL00585:Abcg4 APN 9 44,192,920 (GRCm39) missense probably benign 0.04
IGL02016:Abcg4 APN 9 44,198,647 (GRCm39) missense probably damaging 0.99
IGL02085:Abcg4 APN 9 44,192,854 (GRCm39) critical splice donor site probably null
IGL02142:Abcg4 APN 9 44,189,014 (GRCm39) missense probably benign 0.18
IGL02171:Abcg4 APN 9 44,186,306 (GRCm39) unclassified probably benign
IGL02309:Abcg4 APN 9 44,193,125 (GRCm39) missense probably benign 0.21
IGL02882:Abcg4 APN 9 44,188,786 (GRCm39) nonsense probably null
R0009:Abcg4 UTSW 9 44,188,946 (GRCm39) splice site probably benign
R0023:Abcg4 UTSW 9 44,186,672 (GRCm39) missense probably damaging 0.99
R0481:Abcg4 UTSW 9 44,190,666 (GRCm39) missense probably benign 0.07
R0513:Abcg4 UTSW 9 44,192,984 (GRCm39) missense possibly damaging 0.61
R0644:Abcg4 UTSW 9 44,185,996 (GRCm39) missense possibly damaging 0.87
R0649:Abcg4 UTSW 9 44,189,330 (GRCm39) missense probably benign 0.00
R1518:Abcg4 UTSW 9 44,186,666 (GRCm39) missense probably benign 0.05
R1528:Abcg4 UTSW 9 44,186,020 (GRCm39) missense probably damaging 0.99
R1702:Abcg4 UTSW 9 44,186,370 (GRCm39) missense probably damaging 0.99
R1932:Abcg4 UTSW 9 44,190,691 (GRCm39) missense probably benign 0.16
R4477:Abcg4 UTSW 9 44,186,383 (GRCm39) missense probably damaging 1.00
R4661:Abcg4 UTSW 9 44,198,627 (GRCm39) missense probably damaging 1.00
R4883:Abcg4 UTSW 9 44,190,616 (GRCm39) missense probably damaging 1.00
R4901:Abcg4 UTSW 9 44,188,954 (GRCm39) critical splice donor site probably null
R5039:Abcg4 UTSW 9 44,192,863 (GRCm39) missense probably damaging 1.00
R5209:Abcg4 UTSW 9 44,186,672 (GRCm39) missense probably damaging 0.99
R5329:Abcg4 UTSW 9 44,190,842 (GRCm39) missense probably benign 0.00
R5492:Abcg4 UTSW 9 44,189,355 (GRCm39) missense probably benign 0.01
R5521:Abcg4 UTSW 9 44,190,980 (GRCm39) unclassified probably benign
R5558:Abcg4 UTSW 9 44,192,705 (GRCm39) missense probably damaging 0.99
R5625:Abcg4 UTSW 9 44,189,333 (GRCm39) missense probably benign 0.42
R6318:Abcg4 UTSW 9 44,186,645 (GRCm39) missense probably benign
R7060:Abcg4 UTSW 9 44,186,425 (GRCm39) missense probably benign 0.13
R7129:Abcg4 UTSW 9 44,190,681 (GRCm39) missense probably benign 0.03
R7431:Abcg4 UTSW 9 44,185,997 (GRCm39) missense possibly damaging 0.87
R7452:Abcg4 UTSW 9 44,190,897 (GRCm39) missense probably damaging 1.00
R8463:Abcg4 UTSW 9 44,192,909 (GRCm39) missense probably damaging 0.99
R8960:Abcg4 UTSW 9 44,186,063 (GRCm39) nonsense probably null
R8978:Abcg4 UTSW 9 44,192,395 (GRCm39) missense probably benign 0.05
R9144:Abcg4 UTSW 9 44,192,708 (GRCm39) missense possibly damaging 0.79
X0028:Abcg4 UTSW 9 44,185,931 (GRCm39) makesense probably null
Predicted Primers PCR Primer
(F):5'- GAATTCATGGCAGTCCTCCTGTCTC -3'
(R):5'- CGATGATGCCAGCAAAGTCTTCAAC -3'

Sequencing Primer
(F):5'- cagtcctcctgtctcagcAC -3'
(R):5'- ACCTGTGAGCTGATCTGCC -3'
Posted On 2013-11-18