Incidental Mutation 'IGL03153:Abcg3'
ID411177
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abcg3
Ensembl Gene ENSMUSG00000029299
Gene NameATP binding cassette subfamily G member 3
SynonymsMxr2, Abcp2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL03153
Quality Score
Status
Chromosome5
Chromosomal Location104935057-104982718 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 104974765 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031239] [ENSMUST00000130644]
Predicted Effect probably benign
Transcript: ENSMUST00000031239
SMART Domains Protein: ENSMUSP00000031239
Gene: ENSMUSG00000029299

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
SMART Domains Protein: ENSMUSP00000120179
Gene: ENSMUSG00000029299

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A G 4: 62,547,326 E419G possibly damaging Het
Adam17 T C 12: 21,345,697 D256G probably damaging Het
Adgrb3 G A 1: 25,531,897 R500* probably null Het
Aldh3a2 A G 11: 61,258,839 Y234H probably damaging Het
Alpk3 A G 7: 81,093,395 T987A probably benign Het
Amtn A G 5: 88,384,969 K148E possibly damaging Het
Asap1 G A 15: 64,160,274 T237M probably damaging Het
Ccdc124 A T 8: 70,868,929 probably null Het
Cdon T C 9: 35,477,959 Y787H probably damaging Het
Coro7 A G 16: 4,635,382 probably null Het
Dram2 T A 3: 106,555,174 probably benign Het
Drd5 T C 5: 38,319,781 V39A probably benign Het
Ern1 A G 11: 106,410,098 L490P possibly damaging Het
Fat1 A G 8: 45,030,123 T3083A possibly damaging Het
Irgm1 A G 11: 48,866,267 I239T probably damaging Het
Klhl10 A T 11: 100,456,932 T605S probably benign Het
Lcor T A 19: 41,558,356 S126R probably damaging Het
Lgi4 G T 7: 31,060,558 V60F probably damaging Het
Lin37 G A 7: 30,557,160 R84W probably damaging Het
Lmf1 A G 17: 25,585,650 S97G possibly damaging Het
Oasl2 A G 5: 114,901,332 T194A probably benign Het
Olfr199 A G 16: 59,216,203 S137P probably benign Het
Pnpo A T 11: 96,943,835 F12I probably damaging Het
Prdm4 T C 10: 85,907,996 T132A probably benign Het
Ptbp2 T C 3: 119,751,944 T118A probably benign Het
Ptf1a T A 2: 19,446,645 probably benign Het
Rev3l T A 10: 39,806,878 F331I probably damaging Het
Rfx6 C A 10: 51,723,121 S524* probably null Het
Scube3 A G 17: 28,167,058 S758G possibly damaging Het
Slc44a2 T C 9: 21,343,200 I257T probably benign Het
Spon1 A T 7: 114,030,344 I408F probably damaging Het
Srpk1 C A 17: 28,592,266 D541Y possibly damaging Het
Tenm4 A T 7: 96,873,762 I1467F probably damaging Het
Tex33 T C 15: 78,385,316 D188G probably damaging Het
Uggt1 A C 1: 36,202,818 V345G possibly damaging Het
Vmn1r23 A T 6: 57,925,932 I287K probably damaging Het
Whamm A G 7: 81,589,532 probably benign Het
Zeb1 A G 18: 5,770,511 D888G probably damaging Het
Zfp263 A G 16: 3,746,880 N253S possibly damaging Het
Zfp446 C A 7: 12,977,907 A19E probably benign Het
Other mutations in Abcg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00820:Abcg3 APN 5 104936012 missense probably benign 0.02
IGL01363:Abcg3 APN 5 104948362 missense possibly damaging 0.55
IGL02097:Abcg3 APN 5 104961186 missense possibly damaging 0.77
IGL02554:Abcg3 APN 5 104969452 missense possibly damaging 0.48
IGL02561:Abcg3 APN 5 104977670 missense probably benign 0.18
IGL02974:Abcg3 APN 5 104968263 missense probably damaging 1.00
IGL03058:Abcg3 APN 5 104961246 missense probably benign 0.00
IGL03377:Abcg3 APN 5 104948390 missense probably benign 0.01
R0110:Abcg3 UTSW 5 104977616 missense probably damaging 0.97
R0469:Abcg3 UTSW 5 104977616 missense probably damaging 0.97
R0510:Abcg3 UTSW 5 104977616 missense probably damaging 0.97
R0530:Abcg3 UTSW 5 104936054 missense probably damaging 1.00
R0579:Abcg3 UTSW 5 104974103 missense probably damaging 1.00
R1237:Abcg3 UTSW 5 104948357 missense probably damaging 0.96
R1505:Abcg3 UTSW 5 104951565 missense probably damaging 1.00
R1627:Abcg3 UTSW 5 104936014 missense probably benign 0.00
R1717:Abcg3 UTSW 5 104963555 nonsense probably null
R1797:Abcg3 UTSW 5 104939164 missense possibly damaging 0.66
R1899:Abcg3 UTSW 5 104938199 missense probably damaging 0.99
R1974:Abcg3 UTSW 5 104963638 missense probably benign 0.01
R2136:Abcg3 UTSW 5 104966814 missense probably benign 0.04
R2285:Abcg3 UTSW 5 104939171 missense probably damaging 1.00
R3880:Abcg3 UTSW 5 104938180 splice site probably benign
R4242:Abcg3 UTSW 5 104961213 missense probably benign
R4738:Abcg3 UTSW 5 104973983 missense probably benign
R5225:Abcg3 UTSW 5 104966783 missense probably damaging 1.00
R5309:Abcg3 UTSW 5 104936599 missense possibly damaging 0.53
R5704:Abcg3 UTSW 5 104968170 missense probably damaging 0.96
R5705:Abcg3 UTSW 5 104968170 missense probably damaging 0.96
R5785:Abcg3 UTSW 5 104968170 missense probably damaging 0.96
R6155:Abcg3 UTSW 5 104963644 missense probably benign 0.00
R6309:Abcg3 UTSW 5 104969393 critical splice donor site probably null
R6814:Abcg3 UTSW 5 104935994 missense probably benign
R6872:Abcg3 UTSW 5 104935994 missense probably benign
R6916:Abcg3 UTSW 5 104974735 missense probably benign 0.16
R7217:Abcg3 UTSW 5 104939228 missense possibly damaging 0.75
R7310:Abcg3 UTSW 5 104966766 missense probably benign 0.01
R7343:Abcg3 UTSW 5 104968234 missense probably benign 0.00
R7401:Abcg3 UTSW 5 104966774 missense probably damaging 0.99
R7531:Abcg3 UTSW 5 104977641 missense probably benign
R7685:Abcg3 UTSW 5 104968215 missense probably damaging 1.00
R7728:Abcg3 UTSW 5 104936078 missense probably benign 0.00
X0022:Abcg3 UTSW 5 104948416 missense probably benign 0.02
X0026:Abcg3 UTSW 5 104938189 missense probably damaging 1.00
Posted On2016-08-02