Incidental Mutation 'IGL01542:Fam228b'
ID90196
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: 0.078) question?
Stock #IGL01542
Quality Score
Status
Chromosome12
Chromosomal Location4739888-4769267 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 4763055 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 105 (I105N)
Ref Sequence ENSEMBL: ENSMUSP00000151270 (fasta)
Predicted Effect probably damaging
Transcript: ENSMUST00000053458
AA Change: I105N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000101885
Predicted Effect probably damaging
Transcript: ENSMUST00000218199
AA Change: I105N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000218575
AA Change: I105N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218905
Predicted Effect probably benign
Transcript: ENSMUST00000219898
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016C15Rik A G 1: 177,743,384 T95A possibly damaging Het
Arap3 G A 18: 37,990,836 R377C probably damaging Het
Arhgap20 A G 9: 51,838,887 M316V probably benign Het
Chd7 T G 4: 8,859,285 N2458K possibly damaging Het
Clock T C 5: 76,231,475 E538G possibly damaging Het
Clpb G A 7: 101,787,505 V596I probably damaging Het
Col9a3 T C 2: 180,609,316 probably benign Het
D130043K22Rik G A 13: 24,876,037 probably null Het
Drd4 T C 7: 141,293,831 probably benign Het
Gm20939 A T 17: 94,874,293 probably benign Het
Gm4952 A G 19: 12,618,407 T54A possibly damaging Het
Hbs1l T C 10: 21,307,756 V132A probably benign Het
Kpna2 T A 11: 106,991,201 E266D probably benign Het
Lars T C 18: 42,214,827 E977G probably benign Het
Lrrn4 T C 2: 132,879,472 T142A probably benign Het
Myo19 T C 11: 84,909,546 L919P probably damaging Het
Nhlrc1 A T 13: 47,014,131 F217I probably damaging Het
Olfr1495 T C 19: 13,768,537 F65S probably damaging Het
Plch1 T C 3: 63,731,649 I468V probably damaging Het
Rergl T A 6: 139,493,498 probably null Het
Sctr A G 1: 120,044,769 probably benign Het
Sdhb T C 4: 140,972,967 V126A probably benign Het
Smad3 C T 9: 63,655,586 R214Q probably damaging Het
Tdrd9 T C 12: 112,046,989 M1219T possibly damaging Het
Tmem167b A T 3: 108,558,906 N75K possibly damaging Het
Vmn2r83 T C 10: 79,479,012 S365P probably benign Het
Vps16 T C 2: 130,438,394 F153L probably damaging Het
Other mutations in Fam228b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00670:Fam228b APN 12 4764081 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 On2013-12-03