Incidental Mutation 'IGL03377:Abcg3'
ID420539
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: 0.057) question?
Stock #IGL03377
Quality Score
Status
Chromosome5
Chromosomal Location104935057-104982718 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 104948390 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 489 (I489L)
Ref Sequence ENSEMBL: ENSMUSP00000120179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031239] [ENSMUST00000130644]
Predicted Effect probably benign
Transcript: ENSMUST00000031239
AA Change: I519L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000031239
Gene: ENSMUSG00000029299
AA Change: I519L

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: I489L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000120179
Gene: ENSMUSG00000029299
AA Change: I489L

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 T C 5: 35,594,332 L237P probably damaging Het
Ahi1 T G 10: 21,018,004 I878S possibly damaging Het
Alox15 T A 11: 70,349,662 Y231F probably damaging Het
Asxl1 A T 2: 153,396,780 K342M probably damaging Het
Atl2 T C 17: 79,865,090 I150M probably damaging Het
Bag6 T C 17: 35,144,982 Y822H probably damaging Het
Ccdc171 T C 4: 83,663,517 Y628H probably damaging Het
Ceacam5 T A 7: 17,715,131 Y141N probably benign Het
Ces1a A G 8: 93,039,488 V166A probably damaging Het
Chrdl2 G A 7: 100,022,052 A126T probably benign Het
Cyp2d26 T C 15: 82,790,554 E409G possibly damaging Het
Dicer1 T C 12: 104,712,197 I621V probably damaging Het
Enpp1 T A 10: 24,660,283 probably null Het
Epha2 T A 4: 141,322,412 S776R probably benign Het
Fam107b A T 2: 3,778,444 E52V probably damaging Het
Fam169a A G 13: 97,091,873 N18S probably benign Het
Fbxw21 A T 9: 109,139,529 F460I probably benign Het
Fgfr2 A T 7: 130,198,517 I329N probably damaging Het
Fndc7 T C 3: 108,876,532 S254G probably benign Het
Glis1 T G 4: 107,632,281 H688Q probably damaging Het
Grip1 A G 10: 120,055,032 E898G probably damaging Het
Gtf2a1l T A 17: 88,711,593 D368E probably benign Het
Gucy1a1 T A 3: 82,106,015 H440L probably damaging Het
H2-M10.5 A T 17: 36,773,485 D113V probably benign Het
Hook2 G T 8: 85,001,335 E554* probably null Het
Itpr2 A C 6: 146,329,715 V1182G probably damaging Het
Itpr2 T A 6: 146,329,758 T1135S probably benign Het
Kdm4c T C 4: 74,271,255 I69T possibly damaging Het
Klhl31 A T 9: 77,651,063 K354* probably null Het
Krt222 T A 11: 99,236,513 K159* probably null Het
Loxhd1 A G 18: 77,441,673 E2004G possibly damaging Het
Man2a2 A T 7: 80,359,052 probably null Het
Med24 A G 11: 98,705,136 F963L possibly damaging Het
Mphosph8 A G 14: 56,693,486 E744G probably damaging Het
Mypn A G 10: 63,192,865 S140P probably benign Het
Npc1 A G 18: 12,211,821 F331L probably benign Het
Obscn C A 11: 58,999,873 G1798W probably damaging Het
Olfr73 A T 2: 88,034,245 V298D probably damaging Het
Patj C T 4: 98,465,104 P110L probably damaging Het
Pkhd1l1 T G 15: 44,484,351 probably null Het
Prdm5 A G 6: 65,859,473 H256R possibly damaging Het
Ralgps1 A G 2: 33,172,461 Y267H probably damaging Het
Rfpl4 T G 7: 5,110,465 Y239S probably damaging Het
Rnpepl1 A T 1: 92,919,231 M592L probably benign Het
Serpinc1 A T 1: 160,993,442 H32L probably damaging Het
Skint5 T A 4: 113,763,538 T660S unknown Het
Slc26a2 T C 18: 61,198,586 N591S probably damaging Het
Slc9b2 C T 3: 135,336,358 A466V probably damaging Het
Slco1a5 T A 6: 142,234,766 T637S probably benign Het
Snx25 A G 8: 46,080,301 probably benign Het
Szt2 T C 4: 118,402,397 probably benign Het
Vmn1r183 A G 7: 24,055,392 M207V possibly damaging Het
Wdcp T G 12: 4,850,691 Y182* probably null Het
Zc3h13 A G 14: 75,293,976 T105A possibly damaging Het
Zfp933 T C 4: 147,828,711 K30R possibly damaging 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
IGL03153:Abcg3 APN 5 104974765 splice site probably benign
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 On2016-08-02