Incidental Mutation 'IGL03325:Abcf2'
ID416621
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 #IGL03325
Quality Score
Status
Chromosome5
Chromosomal Location24565345-24577467 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 24574212 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Isoleucine at position 113 (L113I)
Ref Sequence ENSEMBL: ENSMUSP00000030795 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030795]
Predicted Effect probably damaging
Transcript: ENSMUST00000030795
AA Change: L113I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030795
Gene: ENSMUSG00000028953
AA Change: L113I

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011H14Rik A T 14: 49,243,820 probably benign Het
4930435E12Rik A T 16: 38,827,993 S251R probably damaging Het
Abca8b G A 11: 109,953,596 R870C possibly damaging Het
Abi1 C T 2: 22,971,228 R106Q probably damaging Het
Arhgef28 A G 13: 97,899,816 V1645A probably benign Het
Ceacam1 G A 7: 25,476,487 A94V possibly damaging Het
Fat2 G A 11: 55,282,342 T2515I probably damaging Het
Gm4951 T A 18: 60,245,811 Y139* probably null Het
Gm5800 T C 14: 51,714,526 Y93C probably benign Het
Gnl1 A G 17: 35,988,656 D573G probably damaging Het
Gosr1 A G 11: 76,754,403 M105T probably benign Het
Gramd1c A T 16: 44,005,505 Y303N probably benign Het
Heatr9 A G 11: 83,513,259 probably null Het
Itih2 T C 2: 10,106,735 D464G probably damaging Het
Jcad T C 18: 4,673,902 Y555H probably benign Het
Krtap19-3 A T 16: 88,877,721 *88R probably null Het
Mrps11 T C 7: 78,790,705 F114S probably damaging Het
Nat8 A T 6: 85,830,893 V86E possibly damaging Het
Nek5 T C 8: 22,079,142 T555A probably benign Het
Olfr788 A T 10: 129,473,605 K304N probably benign Het
Pprc1 C T 19: 46,061,509 T10I possibly damaging Het
Prss16 A G 13: 22,003,247 V409A possibly damaging Het
Sema3d T A 5: 12,463,222 L53Q probably damaging Het
Sfmbt2 T C 2: 10,577,817 Y696H probably damaging Het
Sh2d3c C T 2: 32,725,258 A120V probably benign Het
Smn1 A G 13: 100,127,857 Y32C probably damaging Het
Sun2 C T 15: 79,738,648 R110Q probably benign Het
Tcp11l2 T G 10: 84,604,900 D323E possibly damaging Het
Tnni3k A T 3: 154,961,814 S296R probably damaging Het
Uck1 G A 2: 32,258,322 R161C probably benign Het
Unc79 T A 12: 103,169,610 S2435T probably damaging Het
Vmn2r114 C A 17: 23,291,678 K609N probably damaging Het
Other mutations in Abcf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Abcf2 APN 5 24568796 missense possibly damaging 0.95
IGL02867:Abcf2 APN 5 24571151 missense probably benign 0.03
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 On2016-08-02