Incidental Mutation 'R1702:Abcg4'
ID 189813
Institutional Source Beutler Lab
Gene Symbol Abcg4
Ensembl Gene ENSMUSG00000032131
Gene Name ATP binding cassette subfamily G member 4
Synonyms 6430517O04Rik
MMRRC Submission 039735-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.188) question?
Stock # R1702 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 44184485-44199912 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 44186370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 553 (V553G)
Ref Sequence ENSEMBL: ENSMUSP00000124647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034648] [ENSMUST00000161354] [ENSMUST00000162783]
AlphaFold Q91WA9
Predicted Effect probably damaging
Transcript: ENSMUST00000034648
AA Change: V553G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034648
Gene: ENSMUSG00000032131
AA Change: V553G

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 damaging
Transcript: ENSMUST00000161354
AA Change: V553G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124647
Gene: ENSMUSG00000032131
AA Change: V553G

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: 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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.5%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,981,925 (GRCm39) V1080A probably benign Het
Ache T C 5: 137,289,251 (GRCm39) V319A possibly damaging Het
Acsm2 T A 7: 119,172,787 (GRCm39) M134K possibly damaging Het
Ank2 A T 3: 126,749,548 (GRCm39) S494T probably benign Het
Asic3 A T 5: 24,620,454 (GRCm39) T202S probably damaging Het
Baiap3 T A 17: 25,463,779 (GRCm39) H886L probably damaging Het
Bltp2 T A 11: 78,179,854 (GRCm39) C2126S probably damaging Het
Cidea T A 18: 67,499,491 (GRCm39) I126K probably damaging Het
Cmklr1 T G 5: 113,751,903 (GRCm39) K366T probably benign Het
Cntrl A T 2: 35,061,848 (GRCm39) probably null Het
Crhr2 A G 6: 55,069,520 (GRCm39) F378S probably damaging Het
Deaf1 C G 7: 140,894,867 (GRCm39) R303T probably damaging Het
Dnah9 T A 11: 65,976,021 (GRCm39) N1343Y possibly damaging Het
Dop1b A G 16: 93,544,509 (GRCm39) K99E possibly damaging Het
Dpp4 A T 2: 62,216,773 (GRCm39) probably null Het
Dst T C 1: 34,206,421 (GRCm39) V598A probably damaging Het
Ece2 C T 16: 20,449,996 (GRCm39) R136C probably damaging Het
Efcab3 C T 11: 104,581,832 (GRCm39) P58L probably benign Het
Egf C A 3: 129,484,460 (GRCm39) V453L probably benign Het
Egr3 T A 14: 70,317,216 (GRCm39) F342L probably damaging Het
Eif2ak2 A T 17: 79,164,063 (GRCm39) I434N probably damaging Het
Emc1 A G 4: 139,102,512 (GRCm39) T936A probably damaging Het
Fmod A T 1: 133,968,500 (GRCm39) E180V probably damaging Het
Gabrg3 T C 7: 56,634,848 (GRCm39) T112A probably damaging Het
Gak T C 5: 108,754,242 (GRCm39) probably null Het
Gas2 T A 7: 51,603,089 (GRCm39) probably null Het
Gm2381 T A 7: 42,469,655 (GRCm39) Q156H probably benign Het
Golga2 T A 2: 32,189,287 (GRCm39) S273T probably damaging Het
Homez T A 14: 55,094,452 (GRCm39) T419S probably damaging Het
Igfbp6 T A 15: 102,056,617 (GRCm39) Y184* probably null Het
Il11 A G 7: 4,776,733 (GRCm39) S86P probably damaging Het
Itgal A G 7: 126,904,197 (GRCm39) N270S probably benign Het
Lama2 T C 10: 27,066,525 (GRCm39) R1119G probably benign Het
Lamp3 G T 16: 19,494,822 (GRCm39) N294K probably benign Het
Mars1 T C 10: 127,145,948 (GRCm39) I113M possibly damaging Het
Mgat5b A G 11: 116,839,485 (GRCm39) T334A possibly damaging Het
Mis18bp1 A G 12: 65,208,518 (GRCm39) I65T probably benign Het
Mmrn2 A T 14: 34,119,871 (GRCm39) N247I probably benign Het
Muc6 G T 7: 141,236,752 (GRCm39) N322K probably damaging Het
Mx2 A G 16: 97,359,883 (GRCm39) H551R probably benign Het
Mylk T A 16: 34,742,314 (GRCm39) V942E probably benign Het
Nes A G 3: 87,883,286 (GRCm39) E515G probably benign Het
Nfatc3 T G 8: 106,818,792 (GRCm39) S503R probably damaging Het
Nkain3 C A 4: 20,158,339 (GRCm39) probably null Het
Noxa1 A G 2: 24,982,596 (GRCm39) V73A probably damaging Het
Nup160 A T 2: 90,514,302 (GRCm39) E83D probably damaging Het
Or12j3 A T 7: 139,952,655 (GRCm39) Y289* probably null Het
Or4z4 C A 19: 12,076,530 (GRCm39) V158L probably benign Het
Or5ac23 C A 16: 59,149,504 (GRCm39) V123L probably benign Het
Or8b56 A G 9: 38,739,839 (GRCm39) Y284C probably damaging Het
Plxnb2 A G 15: 89,046,187 (GRCm39) probably null Het
Rundc3b A G 5: 8,562,318 (GRCm39) V350A probably benign Het
Scn1a C T 2: 66,148,567 (GRCm39) D993N probably damaging Het
Sec24c G T 14: 20,736,641 (GRCm39) G226V probably null Het
Septin11 T A 5: 93,304,783 (GRCm39) I200N probably damaging Het
Shank3 G T 15: 89,384,099 (GRCm39) G14C probably damaging Het
Skic3 A G 13: 76,270,862 (GRCm39) K153R possibly damaging Het
Slc25a39 T C 11: 102,297,452 (GRCm39) D5G possibly damaging Het
Stoml3 A T 3: 53,412,852 (GRCm39) T169S probably benign Het
Taf1b T A 12: 24,559,125 (GRCm39) I83K possibly damaging Het
Tarbp1 T A 8: 127,154,957 (GRCm39) Q1389L probably damaging Het
Thbs1 T A 2: 117,943,923 (GRCm39) D180E probably benign Het
Tmc5 T A 7: 118,271,462 (GRCm39) V925D probably benign Het
Tmem62 T C 2: 120,809,708 (GRCm39) V130A probably damaging Het
Tpp2 C T 1: 44,029,708 (GRCm39) P997L probably damaging Het
Trip12 A T 1: 84,722,784 (GRCm39) I127N probably damaging Het
Upp2 T C 2: 58,661,562 (GRCm39) F142L possibly damaging Het
Usf3 C T 16: 44,039,995 (GRCm39) Q1492* probably null Het
Vcp T C 4: 42,990,840 (GRCm39) D205G probably damaging Het
Vmn1r180 G A 7: 23,652,394 (GRCm39) V186I possibly damaging Het
Washc2 T C 6: 116,206,267 (GRCm39) S496P probably damaging Het
Wee2 T C 6: 40,441,135 (GRCm39) I480T probably benign Het
Xylt2 T A 11: 94,559,571 (GRCm39) H357L probably damaging Het
Zbed4 T C 15: 88,665,056 (GRCm39) S375P probably damaging Het
Zfp442 A T 2: 150,251,100 (GRCm39) Y266* probably null Het
Zfp600 A G 4: 146,133,497 (GRCm39) T722A probably benign Het
Zfp976 T A 7: 42,265,424 (GRCm39) H55L possibly 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
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'- GCACTGTTCATCTAAGCAGGTCAGG -3'
(R):5'- TATGGGAGGCATCAAGAACTGCCAC -3'

Sequencing Primer
(F):5'- TAGATGGTCAGGATCAGACCCTC -3'
(R):5'- AGAACTGCCACGGGGTG -3'
Posted On 2014-05-14