Incidental Mutation 'R5039:Abcg4'
ID 395709
Institutional Source Beutler Lab
Gene Symbol Abcg4
Ensembl Gene ENSMUSG00000032131
Gene Name ATP binding cassette subfamily G member 4
Synonyms 6430517O04Rik
MMRRC Submission 042629-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.188) question?
Stock # R5039 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 44184485-44199912 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44192863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 161 (A161V)
Ref Sequence ENSEMBL: ENSMUSP00000124647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034648] [ENSMUST00000160384] [ENSMUST00000161354] [ENSMUST00000161408] [ENSMUST00000162783]
AlphaFold Q91WA9
Predicted Effect probably damaging
Transcript: ENSMUST00000034648
AA Change: A161V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034648
Gene: ENSMUSG00000032131
AA Change: A161V

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 damaging
Transcript: ENSMUST00000161354
AA Change: A161V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124647
Gene: ENSMUSG00000032131
AA Change: A161V

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 0.1779 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 100% (61/61)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc2 T C 2: 25,164,808 (GRCm39) I64T possibly damaging Het
Arfgef1 T C 1: 10,269,961 (GRCm39) D396G probably benign Het
Ark2c A G 18: 77,550,608 (GRCm39) S107P probably damaging Het
Axl C T 7: 25,485,340 (GRCm39) V163M probably damaging Het
Blm G A 7: 80,155,621 (GRCm39) P353S possibly damaging Het
Btaf1 T C 19: 36,968,162 (GRCm39) Y1116H probably benign Het
Ccdc18 T A 5: 108,306,514 (GRCm39) probably null Het
Ccdc87 T C 19: 4,890,429 (GRCm39) probably null Het
Cdhr1 T C 14: 36,801,600 (GRCm39) N781S probably benign Het
Ctr9 C A 7: 110,642,064 (GRCm39) H297Q probably benign Het
Cyp2c55 A G 19: 39,026,587 (GRCm39) D398G probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dnmt3l T C 10: 77,888,734 (GRCm39) probably null Het
Dock4 C A 12: 40,867,745 (GRCm39) N1440K probably damaging Het
Etnk1 T A 6: 143,141,043 (GRCm39) probably null Het
Fam120a A T 13: 49,063,726 (GRCm39) probably null Het
Fanca T C 8: 124,010,785 (GRCm39) D908G probably benign Het
Gm17535 T A 9: 3,035,786 (GRCm39) L218H probably benign Het
Gm3633 A C 14: 42,461,161 (GRCm39) N42K possibly damaging Het
Gm4781 C A 10: 100,232,851 (GRCm39) noncoding transcript Het
Gm8741 G T 17: 35,555,062 (GRCm39) noncoding transcript Het
Gpr139 A G 7: 118,744,165 (GRCm39) V140A probably benign Het
Ighv1-62-3 G T 12: 115,425,014 (GRCm39) T13K probably benign Het
Itgb2l T C 16: 96,226,205 (GRCm39) T629A possibly damaging Het
Kcnb2 T C 1: 15,779,724 (GRCm39) S199P probably damaging Het
Kdm1b G A 13: 47,230,962 (GRCm39) G663D probably damaging Het
Lama1 A G 17: 68,052,888 (GRCm39) D407G possibly damaging Het
Macf1 T C 4: 123,405,013 (GRCm39) K391R probably damaging Het
Magi3 A T 3: 104,013,107 (GRCm39) S127T probably damaging Het
Map2 A T 1: 66,477,955 (GRCm39) D1759V probably damaging Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Myrfl T C 10: 116,658,616 (GRCm39) D447G probably damaging Het
Ndufb7 A G 8: 84,298,094 (GRCm39) probably benign Het
Nt5e T A 9: 88,245,634 (GRCm39) N301K probably benign Het
Or10d4b A T 9: 39,534,856 (GRCm39) T146S possibly damaging Het
Or8g27 T A 9: 39,129,410 (GRCm39) Y252* probably null Het
Pcdh10 A G 3: 45,336,296 (GRCm39) N870S probably damaging Het
Pcdh18 A G 3: 49,709,305 (GRCm39) V670A probably benign Het
Phf8-ps A C 17: 33,286,734 (GRCm39) C23G probably damaging Het
Polr1c G T 17: 46,558,635 (GRCm39) probably benign Het
Ric3 G C 7: 108,637,930 (GRCm39) S274R probably benign Het
Rimbp3 A G 16: 17,031,195 (GRCm39) T1540A probably damaging Het
Rp1l1 A T 14: 64,268,805 (GRCm39) M1464L probably benign Het
Slc41a3 A G 6: 90,603,399 (GRCm39) Y140C probably damaging Het
Ssb A T 2: 69,696,581 (GRCm39) E38D possibly damaging Het
Syt14 A T 1: 192,709,292 (GRCm39) I16N probably damaging Het
Tet3 T C 6: 83,352,878 (GRCm39) T973A probably damaging Het
Tial1 T C 7: 128,045,692 (GRCm39) probably benign Het
Tnfrsf1a A G 6: 125,337,675 (GRCm39) T89A possibly damaging Het
Trpv5 T C 6: 41,652,879 (GRCm39) Y98C possibly damaging Het
Ylpm1 T A 12: 85,062,267 (GRCm39) S265T probably damaging Het
Ylpm1 A G 12: 85,089,013 (GRCm39) D1006G 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
R1084:Abcg4 UTSW 9 44,188,766 (GRCm39) missense probably benign 0.27
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
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'- TAAAGCATTGCCCCTGAAGC -3'
(R):5'- AACGTGGCTTTGGTGCTCAC -3'

Sequencing Primer
(F):5'- ATTGCCCCTGAAGCCCATG -3'
(R):5'- TGGTGCTCACTGCCAAC -3'
Posted On 2016-06-21