Incidental Mutation 'IGL00670:Fam228b'
ID10320
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam228b
Ensembl Gene ENSMUSG00000050545
Gene Namefamily with sequence similarity 228, member B
SynonymsA830093I24Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL00670
Quality Score
Status
Chromosome12
Chromosomal Location4739888-4769267 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 4764081 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 59 (K59E)
Ref Sequence ENSEMBL: ENSMUSP00000151270 (fasta)
Predicted Effect probably damaging
Transcript: ENSMUST00000053458
AA Change: K59E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect possibly damaging
Transcript: ENSMUST00000218199
AA Change: K59E

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000218575
AA Change: K59E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218905
Predicted Effect probably benign
Transcript: ENSMUST00000219503
Predicted Effect probably benign
Transcript: ENSMUST00000219898
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A T 6: 142,687,281 L245Q probably damaging Het
Abcd3 A T 3: 121,775,684 V333D probably damaging Het
Aff2 T A X: 69,544,593 M122K possibly damaging Het
Car10 C T 11: 93,304,657 probably benign Het
Cyp2d26 T A 15: 82,791,741 M257L probably benign Het
Cyp2j5 T G 4: 96,634,275 D354A probably benign Het
Fam208b A T 13: 3,585,241 I522N probably benign Het
Fndc3c1 T C X: 106,445,777 D346G probably benign Het
Med14 G A X: 12,754,189 A95V probably damaging Het
Med23 T C 10: 24,888,584 L155P probably damaging Het
Mrps31 A G 8: 22,429,190 D312G probably damaging Het
Ppp1r3a A T 6: 14,719,060 N618K probably benign Het
Prb1 A T 6: 132,207,146 probably benign Het
Slc5a4a A T 10: 76,163,733 I210F probably damaging Het
Ttn A T 2: 76,826,991 probably benign Het
Other mutations in Fam228b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01542:Fam228b APN 12 4763055 missense probably damaging 1.00
IGL02431:Fam228b APN 12 4762370 missense probably damaging 1.00
R0049:Fam228b UTSW 12 4748117 missense probably damaging 1.00
R0049:Fam228b UTSW 12 4748117 missense probably damaging 1.00
R0345:Fam228b UTSW 12 4748351 missense possibly damaging 0.71
R0416:Fam228b UTSW 12 4762382 missense probably damaging 0.99
R1860:Fam228b UTSW 12 4748314 missense probably damaging 1.00
R5032:Fam228b UTSW 12 4763042 missense probably damaging 1.00
R6821:Fam228b UTSW 12 4763083 missense probably benign 0.08
X0028:Fam228b UTSW 12 4748022 missense probably damaging 1.00
Posted On2012-12-06