Incidental Mutation 'IGL00579:Abcf2'
ID6473
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abcf2
Ensembl Gene ENSMUSG00000028953
Gene NameATP-binding cassette, sub-family F (GCN20), member 2
Synonyms0710005O05Rik, Drr3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.230) question?
Stock #IGL00579
Quality Score
Status
Chromosome5
Chromosomal Location24565345-24577467 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 24568796 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 365 (E365G)
Ref Sequence ENSEMBL: ENSMUSP00000030795 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030795]
Predicted Effect possibly damaging
Transcript: ENSMUST00000030795
AA Change: E365G

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030795
Gene: ENSMUSG00000028953
AA Change: E365G

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
AAA 115 308 1.6e-6 SMART
AAA 427 595 6.32e-5 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ATP-binding casette proteins transport various molecules across extra- and intracellular membranes. Alterations in this gene may be involved in cancer progression. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 3 and 7. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 T C 15: 11,152,014 Y197H probably benign Het
Cept1 A T 3: 106,505,803 V202E possibly damaging Het
Cfap53 A T 18: 74,305,540 K263* probably null Het
Dennd3 T C 15: 73,540,842 I451T possibly damaging Het
Dync2h1 A C 9: 7,035,728 probably benign Het
Egf T A 3: 129,697,798 H850L probably benign Het
Gm11595 T C 11: 99,772,042 T271A unknown Het
Gorab T C 1: 163,394,687 E142G probably damaging Het
Gpat4 A G 8: 23,182,775 S20P probably damaging Het
Gpr83 T C 9: 14,860,601 V23A probably benign Het
Il13ra2 A G X: 147,394,390 Y146H probably damaging Het
Kcnj16 C T 11: 111,025,208 T232M probably benign Het
Mdfic A T 6: 15,741,074 I61F possibly damaging Het
Mmp3 G T 9: 7,445,894 probably benign Het
Olr1 C T 6: 129,493,523 R227K probably benign Het
Otof T A 5: 30,399,322 I257F possibly damaging Het
Oxsr1 T A 9: 119,259,211 R43S probably damaging Het
Prkdc A G 16: 15,664,239 D382G probably damaging Het
Slc35b2 G T 17: 45,564,960 V81L probably damaging Het
Thumpd3 G A 6: 113,047,661 R72H possibly damaging Het
Tmem206 T C 1: 191,328,208 V21A unknown Het
Tsga10 G A 1: 37,835,453 T117I probably damaging Het
Vps13a T A 19: 16,707,362 T953S probably benign Het
Wdr62 A C 7: 30,267,895 C311W probably damaging Het
Wdr74 A G 19: 8,739,466 T247A possibly damaging Het
Zbtb26 A T 2: 37,436,442 V194D possibly damaging Het
Zfp639 A T 3: 32,520,477 E417V probably damaging Het
Other mutations in Abcf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02867:Abcf2 APN 5 24571151 missense probably benign 0.03
IGL03325:Abcf2 APN 5 24574212 missense probably damaging 1.00
IGL03329:Abcf2 APN 5 24571248 critical splice acceptor site probably null
R0281:Abcf2 UTSW 5 24566564 missense probably damaging 1.00
R0357:Abcf2 UTSW 5 24573465 missense probably benign 0.16
R0815:Abcf2 UTSW 5 24567270 missense probably damaging 1.00
R0835:Abcf2 UTSW 5 24574253 missense probably damaging 0.99
R1793:Abcf2 UTSW 5 24568776 missense probably benign
R2321:Abcf2 UTSW 5 24567253 nonsense probably null
R5006:Abcf2 UTSW 5 24576537 nonsense probably null
R5765:Abcf2 UTSW 5 24573423 missense probably damaging 0.99
R6317:Abcf2 UTSW 5 24569158 nonsense probably null
R6684:Abcf2 UTSW 5 24569139 missense probably damaging 1.00
R6906:Abcf2 UTSW 5 24568842 missense possibly damaging 0.90
R6980:Abcf2 UTSW 5 24565972 missense probably benign 0.01
R8266:Abcf2 UTSW 5 24576591 small insertion probably benign
R8267:Abcf2 UTSW 5 24576591 small insertion probably benign
R8290:Abcf2 UTSW 5 24576591 small insertion probably benign
R8294:Abcf2 UTSW 5 24576591 small insertion probably benign
R8295:Abcf2 UTSW 5 24576591 small insertion probably benign
Posted On2012-04-20