Incidental Mutation 'IGL02554:Abcg3'
ID 298431
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abcg3
Ensembl Gene ENSMUSG00000029299
Gene Name ATP binding cassette subfamily G member 3
Synonyms Abcp2, Mxr2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL02554
Quality Score
Status
Chromosome 5
Chromosomal Location 105082923-105130584 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105117318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 204 (D204G)
Ref Sequence ENSEMBL: ENSMUSP00000031239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031239] [ENSMUST00000130644]
AlphaFold Q99P81
Predicted Effect possibly damaging
Transcript: ENSMUST00000031239
AA Change: D204G

PolyPhen 2 Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031239
Gene: ENSMUSG00000029299
AA Change: D204G

DomainStartEndE-ValueType
Pfam:ABC_tran 64 207 5.9e-9 PFAM
Pfam:ABC2_membrane 367 578 1.8e-29 PFAM
transmembrane domain 623 642 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130644
AA Change: D204G

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000120179
Gene: ENSMUSG00000029299
AA Change: D204G

DomainStartEndE-ValueType
Pfam:ABC_tran 64 207 7.6e-9 PFAM
transmembrane domain 386 408 N/A INTRINSIC
Pfam:ABC2_membrane 414 548 1.9e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197004
Coding Region Coverage
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. It lacks several highly conserved residues found in other ATP-binding proteins; this suggests that this protein may not bind ATP and may require dimerization with another subunit to form a functional ATP-transporter. The function of this gene has not yet been determined; however, high levels of expression in the thymus and spleen suggest a potential role in the transport of specific peptides or hydrophobic compounds from lymphocytes. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T A 11: 48,838,830 (GRCm39) M586L probably damaging Het
Acox3 C A 5: 35,765,710 (GRCm39) L588I probably damaging Het
Adamts9 G T 6: 92,857,828 (GRCm39) L849I probably benign Het
Alkbh3 T G 2: 93,826,692 (GRCm39) T170P probably damaging Het
Anks1b A T 10: 90,757,240 (GRCm39) H300L probably damaging Het
Arhgap29 T C 3: 121,786,173 (GRCm39) probably benign Het
Brd8dc A G 18: 34,726,068 (GRCm39) S112P probably benign Het
Cd86 C T 16: 36,438,847 (GRCm39) G181D probably benign Het
Cep68 A T 11: 20,190,096 (GRCm39) H305Q possibly damaging Het
Cimip4 A G 15: 78,262,736 (GRCm39) M245T possibly damaging Het
Clptm1l A T 13: 73,755,879 (GRCm39) D165V probably benign Het
Dctn1 T C 6: 83,159,704 (GRCm39) Y61H probably damaging Het
Dnah7a A T 1: 53,657,205 (GRCm39) M857K possibly damaging Het
Gpr158 A G 2: 21,831,407 (GRCm39) M836V probably benign Het
Gria1 G T 11: 57,180,314 (GRCm39) A755S possibly damaging Het
Helb G A 10: 119,925,617 (GRCm39) T920M probably damaging Het
Hr T C 14: 70,797,306 (GRCm39) probably benign Het
Igf2bp1 A G 11: 95,864,994 (GRCm39) S152P probably damaging Het
Iqsec1 T C 6: 90,646,327 (GRCm39) Y784C probably damaging Het
Ldah T A 12: 8,333,935 (GRCm39) C275* probably null Het
Lpin3 T C 2: 160,738,707 (GRCm39) S220P probably damaging Het
Med23 T C 10: 24,774,473 (GRCm39) probably null Het
Mllt1 T C 17: 57,206,806 (GRCm39) D346G probably benign Het
Myef2 A C 2: 124,942,345 (GRCm39) probably null Het
Myh2 A G 11: 67,079,991 (GRCm39) S1095G probably benign Het
Nav1 A G 1: 135,512,651 (GRCm39) silent Het
Or10a3m A G 7: 108,312,949 (GRCm39) M118V possibly damaging Het
Piwil2 G A 14: 70,628,935 (GRCm39) probably benign Het
Pkhd1l1 T A 15: 44,441,896 (GRCm39) F3612I probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
S100pbp A T 4: 129,075,644 (GRCm39) probably null Het
Scnn1b T C 7: 121,516,746 (GRCm39) I495T probably damaging Het
Sgo2b A C 8: 64,379,571 (GRCm39) V1087G probably damaging Het
Sil1 A T 18: 35,481,786 (GRCm39) V91E probably damaging Het
Slc5a4b A G 10: 75,946,685 (GRCm39) I29T possibly damaging Het
Spink5 A T 18: 44,148,661 (GRCm39) N908I probably benign Het
Svopl A C 6: 37,993,978 (GRCm39) I351S probably damaging Het
Syngr3 A G 17: 24,905,302 (GRCm39) V198A probably benign Het
Tbck C A 3: 132,456,953 (GRCm39) Y622* probably null Het
Tkt T A 14: 30,280,737 (GRCm39) M56K probably damaging Het
Trip10 T C 17: 57,570,135 (GRCm39) V544A probably damaging Het
Txndc16 T C 14: 45,409,995 (GRCm39) E195G probably damaging Het
Vmn2r69 G A 7: 85,059,014 (GRCm39) P516S probably damaging Het
Vmn2r74 T C 7: 85,606,581 (GRCm39) N255S probably benign Het
Xpo4 T C 14: 57,827,545 (GRCm39) T884A probably benign Het
Zdhhc2 A G 8: 40,915,155 (GRCm39) N167S probably damaging Het
Other mutations in Abcg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00820:Abcg3 APN 5 105,083,878 (GRCm39) missense probably benign 0.02
IGL01363:Abcg3 APN 5 105,096,228 (GRCm39) missense possibly damaging 0.55
IGL02097:Abcg3 APN 5 105,109,052 (GRCm39) missense possibly damaging 0.77
IGL02561:Abcg3 APN 5 105,125,536 (GRCm39) missense probably benign 0.18
IGL02974:Abcg3 APN 5 105,116,129 (GRCm39) missense probably damaging 1.00
IGL03058:Abcg3 APN 5 105,109,112 (GRCm39) missense probably benign 0.00
IGL03153:Abcg3 APN 5 105,122,631 (GRCm39) splice site probably benign
IGL03377:Abcg3 APN 5 105,096,256 (GRCm39) missense probably benign 0.01
R0110:Abcg3 UTSW 5 105,125,482 (GRCm39) missense probably damaging 0.97
R0469:Abcg3 UTSW 5 105,125,482 (GRCm39) missense probably damaging 0.97
R0510:Abcg3 UTSW 5 105,125,482 (GRCm39) missense probably damaging 0.97
R0530:Abcg3 UTSW 5 105,083,920 (GRCm39) missense probably damaging 1.00
R0579:Abcg3 UTSW 5 105,121,969 (GRCm39) missense probably damaging 1.00
R1237:Abcg3 UTSW 5 105,096,223 (GRCm39) missense probably damaging 0.96
R1505:Abcg3 UTSW 5 105,099,431 (GRCm39) missense probably damaging 1.00
R1627:Abcg3 UTSW 5 105,083,880 (GRCm39) missense probably benign 0.00
R1717:Abcg3 UTSW 5 105,111,421 (GRCm39) nonsense probably null
R1797:Abcg3 UTSW 5 105,087,030 (GRCm39) missense possibly damaging 0.66
R1899:Abcg3 UTSW 5 105,086,065 (GRCm39) missense probably damaging 0.99
R1974:Abcg3 UTSW 5 105,111,504 (GRCm39) missense probably benign 0.01
R2136:Abcg3 UTSW 5 105,114,680 (GRCm39) missense probably benign 0.04
R2285:Abcg3 UTSW 5 105,087,037 (GRCm39) missense probably damaging 1.00
R3880:Abcg3 UTSW 5 105,086,046 (GRCm39) splice site probably benign
R4242:Abcg3 UTSW 5 105,109,079 (GRCm39) missense probably benign
R4738:Abcg3 UTSW 5 105,121,849 (GRCm39) missense probably benign
R5225:Abcg3 UTSW 5 105,114,649 (GRCm39) missense probably damaging 1.00
R5309:Abcg3 UTSW 5 105,084,465 (GRCm39) missense possibly damaging 0.53
R5704:Abcg3 UTSW 5 105,116,036 (GRCm39) missense probably damaging 0.96
R5705:Abcg3 UTSW 5 105,116,036 (GRCm39) missense probably damaging 0.96
R5785:Abcg3 UTSW 5 105,116,036 (GRCm39) missense probably damaging 0.96
R6155:Abcg3 UTSW 5 105,111,510 (GRCm39) missense probably benign 0.00
R6309:Abcg3 UTSW 5 105,117,259 (GRCm39) critical splice donor site probably null
R6814:Abcg3 UTSW 5 105,083,860 (GRCm39) missense probably benign
R6872:Abcg3 UTSW 5 105,083,860 (GRCm39) missense probably benign
R6916:Abcg3 UTSW 5 105,122,601 (GRCm39) missense probably benign 0.16
R7217:Abcg3 UTSW 5 105,087,094 (GRCm39) missense possibly damaging 0.75
R7310:Abcg3 UTSW 5 105,114,632 (GRCm39) missense probably benign 0.01
R7343:Abcg3 UTSW 5 105,116,100 (GRCm39) missense probably benign 0.00
R7401:Abcg3 UTSW 5 105,114,640 (GRCm39) missense probably damaging 0.99
R7531:Abcg3 UTSW 5 105,125,507 (GRCm39) missense probably benign
R7685:Abcg3 UTSW 5 105,116,081 (GRCm39) missense probably damaging 1.00
R7728:Abcg3 UTSW 5 105,083,944 (GRCm39) missense probably benign 0.00
R7819:Abcg3 UTSW 5 105,125,594 (GRCm39) missense probably benign 0.05
R7942:Abcg3 UTSW 5 105,087,027 (GRCm39) missense probably damaging 1.00
R8059:Abcg3 UTSW 5 105,100,948 (GRCm39) critical splice donor site probably null
R9181:Abcg3 UTSW 5 105,121,962 (GRCm39) missense probably benign
R9529:Abcg3 UTSW 5 105,121,973 (GRCm39) missense probably damaging 1.00
R9641:Abcg3 UTSW 5 105,084,483 (GRCm39) missense probably benign
X0022:Abcg3 UTSW 5 105,096,282 (GRCm39) missense probably benign 0.02
X0026:Abcg3 UTSW 5 105,086,055 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16