Incidental Mutation 'IGL03071:Cby3'
ID417523
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cby3
Ensembl Gene ENSMUSG00000050087
Gene Namechibby family member 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL03071
Quality Score
Status
Chromosome11
Chromosomal Location50354462-50359699 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 50359516 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 183 (D183G)
Ref Sequence ENSEMBL: ENSMUSP00000131004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052596] [ENSMUST00000164067]
Predicted Effect probably damaging
Transcript: ENSMUST00000052596
AA Change: D88G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052281
Gene: ENSMUSG00000050087
AA Change: D88G

DomainStartEndE-ValueType
Pfam:Chibby 1 105 5.4e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000103251
Predicted Effect probably damaging
Transcript: ENSMUST00000164067
AA Change: D183G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131004
Gene: ENSMUSG00000050087
AA Change: D183G

DomainStartEndE-ValueType
low complexity region 14 32 N/A INTRINSIC
Pfam:Chibby 76 199 1.1e-38 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 T A 8: 40,825,067 L165H probably benign Het
Ahnak T C 19: 9,011,918 I3522T possibly damaging Het
Anks1 G A 17: 28,008,199 A609T probably benign Het
Apaf1 T C 10: 90,997,255 D1138G possibly damaging Het
Appl2 T C 10: 83,641,106 probably null Het
Arhgef19 A T 4: 141,249,002 I385F possibly damaging Het
Ccdc134 G A 15: 82,134,625 V119M possibly damaging Het
Ccdc180 G T 4: 45,903,840 probably benign Het
Clec2d T C 6: 129,183,202 S60P probably benign Het
Cts6 A T 13: 61,202,250 F6I probably damaging Het
Cyyr1 G A 16: 85,465,561 H103Y probably damaging Het
Dopey1 T A 9: 86,489,615 S120T possibly damaging Het
Dot1l T C 10: 80,788,679 S994P probably benign Het
Eya4 T G 10: 23,323,073 D3A probably benign Het
Fam160b2 A G 14: 70,586,209 C574R probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gria1 A T 11: 57,012,110 probably null Het
Hectd1 T C 12: 51,769,174 T1377A probably benign Het
Magi3 T G 3: 104,015,886 K1172Q possibly damaging Het
Map3k1 A C 13: 111,755,525 D1065E possibly damaging Het
Mindy4b-ps A T 3: 58,809,737 V242D probably damaging Het
Mrgpra3 T C 7: 47,589,181 probably benign Het
Mroh9 C A 1: 163,039,197 G657C probably damaging Het
Ogfod1 T C 8: 94,057,767 W318R probably damaging Het
Olfr16 A G 1: 172,956,935 T47A probably benign Het
Pacsin3 G A 2: 91,260,492 R48H probably damaging Het
Plcb1 A G 2: 135,387,802 E1114G probably damaging Het
Prkdc T G 16: 15,799,984 D3226E probably benign Het
Prl4a1 A T 13: 28,020,263 E96V probably benign Het
Robo4 T C 9: 37,404,284 probably benign Het
Scn7a G A 2: 66,699,947 L685F possibly damaging Het
Spata1 A G 3: 146,475,334 Y290H possibly damaging Het
Tex10 T C 4: 48,452,946 D671G probably benign Het
Tifa T G 3: 127,797,079 Y166* probably null Het
Tnfsf10 G A 3: 27,335,620 D277N probably damaging Het
Tram1 A T 1: 13,579,774 Y75* probably null Het
Vmn1r60 T A 7: 5,544,369 N244I probably damaging Het
Xpo4 A G 14: 57,618,228 I248T possibly damaging Het
Zc2hc1a A G 3: 7,524,122 probably benign Het
Zfp386 T A 12: 116,059,140 H124Q probably benign Het
Other mutations in Cby3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Cby3 APN 11 50357811 splice site probably benign
R1550:Cby3 UTSW 11 50359486 missense probably damaging 1.00
R1642:Cby3 UTSW 11 50359516 missense probably damaging 1.00
R3747:Cby3 UTSW 11 50359674 makesense probably null
R6378:Cby3 UTSW 11 50359533 missense probably damaging 0.99
R7800:Cby3 UTSW 11 50359348 missense probably damaging 1.00
R7986:Cby3 UTSW 11 50359279 missense possibly damaging 0.92
R8431:Cby3 UTSW 11 50359257 missense probably damaging 1.00
R8545:Cby3 UTSW 11 50359416 missense probably benign
Posted On2016-08-02