Incidental Mutation 'IGL01363:Abcg3'
ID75815
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: 0.064) question?
Stock #IGL01363
Quality Score
Status
Chromosome5
Chromosomal Location104935057-104982718 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 104948362 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 528 (V528A)
Ref Sequence ENSEMBL: ENSMUSP00000031239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031239] [ENSMUST00000130644]
Predicted Effect possibly damaging
Transcript: ENSMUST00000031239
AA Change: V528A

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000031239
Gene: ENSMUSG00000029299
AA Change: V528A

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: V498A

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000120179
Gene: ENSMUSG00000029299
AA Change: V498A

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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A G 4: 124,610,690 F23S probably damaging Het
A730017C20Rik G A 18: 59,072,308 G98D probably damaging Het
Adgrv1 A G 13: 81,557,065 V1542A probably damaging Het
Alkbh3 A G 2: 94,003,051 probably null Het
Ang4 G T 14: 51,764,179 T104K probably benign Het
Arhgef3 T A 14: 27,401,919 C532* probably null Het
Bnip3 G A 7: 138,898,048 T70I probably benign Het
Cast T C 13: 74,704,192 E644G possibly damaging Het
Cenpc1 A T 5: 86,046,531 C125* probably null Het
Crb2 C A 2: 37,793,833 R1116S probably benign Het
Cyp2c67 T G 19: 39,639,967 I178L probably damaging Het
Cyp2c68 T A 19: 39,703,427 M351L probably benign Het
Dusp1 G A 17: 26,506,290 P365L probably damaging Het
Gatb T C 3: 85,652,345 L492P probably damaging Het
Gm13103 A T 4: 143,853,276 Y477F probably benign Het
Igkv8-19 T C 6: 70,341,099 S48G probably damaging Het
Isyna1 G A 8: 70,594,722 V32I probably damaging Het
Itgb6 T A 2: 60,611,382 N695Y possibly damaging Het
Klra8 T C 6: 130,115,598 T247A probably benign Het
Mak G A 13: 41,053,377 probably benign Het
Mndal T A 1: 173,857,456 T516S possibly damaging Het
Mphosph9 G T 5: 124,262,021 T939K probably damaging Het
Nfrkb A G 9: 31,414,371 T1037A possibly damaging Het
Olfr165 C T 16: 19,407,583 M145I probably benign Het
Olfr25 A G 9: 38,329,703 T39A probably benign Het
Pard3b A G 1: 62,637,640 Y1011C probably damaging Het
Parm1 G A 5: 91,613,018 V250M probably damaging Het
Pgap2 T G 7: 102,226,282 M1R probably null Het
Phlpp2 T C 8: 109,937,097 F923L probably benign Het
Polr1a T A 6: 71,948,486 M739K probably benign Het
Pramel1 A G 4: 143,397,385 Y210C probably benign Het
Raver2 A G 4: 101,120,583 probably benign Het
Rb1cc1 C T 1: 6,250,109 L1251F probably benign Het
Ros1 T A 10: 52,166,142 Y238F probably damaging Het
Shroom3 T C 5: 92,940,993 L534P probably benign Het
Tjp1 A T 7: 65,302,965 F1540L possibly damaging Het
Tmem200b C A 4: 131,922,393 P208Q probably benign Het
Tmem236 T C 2: 14,174,630 L14P probably damaging Het
Tubgcp6 A T 15: 89,107,525 I623N probably damaging Het
Vmn1r119 C T 7: 21,012,131 V109I probably benign Het
Vmn2r98 A G 17: 19,065,758 N173D probably benign Het
Other mutations in Abcg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00820:Abcg3 APN 5 104936012 missense probably benign 0.02
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
IGL03153:Abcg3 APN 5 104974765 splice site probably benign
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
X0022:Abcg3 UTSW 5 104948416 missense probably benign 0.02
X0026:Abcg3 UTSW 5 104938189 missense probably damaging 1.00
Posted On2013-10-07