Incidental Mutation 'IGL02431:Fam228b'
ID293149
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 #IGL02431
Quality Score
Status
Chromosome12
Chromosomal Location4739888-4769267 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 4762370 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 136 (Y136C)
Ref Sequence ENSEMBL: ENSMUSP00000151270 (fasta)
Predicted Effect probably damaging
Transcript: ENSMUST00000053458
AA Change: Y136C

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: Y136C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000218575
AA Change: Y136C

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930452B06Rik T C 14: 8,659,424 N57S probably damaging Het
Abca17 T A 17: 24,298,984 I784L probably benign Het
Abcc1 T A 16: 14,419,734 V473E probably damaging Het
Agap3 A G 5: 24,501,012 E758G probably damaging Het
C6 A T 15: 4,759,861 K263* probably null Het
Cep78 T C 19: 15,959,579 T588A probably benign Het
Col4a3 C T 1: 82,679,623 Q815* probably null Het
Dcaf10 A G 4: 45,342,630 M155V probably benign Het
Fam208b A G 13: 3,574,736 V1738A possibly damaging Het
Fryl A T 5: 73,098,308 H793Q probably benign Het
Gm10134 T C 2: 28,506,417 probably benign Het
Gm6505 T C 3: 28,765,020 noncoding transcript Het
Il31ra A G 13: 112,530,296 F416S probably damaging Het
Lipc A G 9: 70,934,468 probably benign Het
Lrp4 A G 2: 91,476,637 K368E possibly damaging Het
Lrriq1 A T 10: 103,200,639 N884K probably damaging Het
Mrgprx1 T C 7: 48,021,127 R291G probably benign Het
Myo15 T A 11: 60,510,639 V3057E possibly damaging Het
Olfr738 T A 14: 50,413,769 I75N probably damaging Het
Olfr761 T A 17: 37,952,522 R167S probably benign Het
Postn A T 3: 54,375,096 I493F probably damaging Het
Ptpn22 C A 3: 103,903,397 F713L probably benign Het
Pygm T C 19: 6,388,118 V239A probably damaging Het
Rangrf C A 11: 68,972,739 C147F probably benign Het
Rnf112 C T 11: 61,450,379 R460H probably benign Het
Sh3d19 A G 3: 86,106,998 E423G probably damaging Het
Tipin A G 9: 64,301,185 K204E probably benign Het
Traf3ip1 A T 1: 91,499,635 Q109L unknown Het
Ttc21b A T 2: 66,251,885 probably benign Het
Ttn C A 2: 76,974,116 A271S probably benign Het
Vegfb C A 19: 6,986,018 probably null Het
Vmn1r15 T A 6: 57,258,903 L252H possibly damaging Het
Wipi1 A T 11: 109,603,791 V72D probably damaging Het
Zmym1 G A 4: 127,047,764 Q944* probably null Het
Other mutations in Fam228b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00670:Fam228b APN 12 4764081 missense probably damaging 1.00
IGL01542:Fam228b APN 12 4763055 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 On2015-04-16