Incidental Mutation 'IGL02431:Fam228b'
ID 293149
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam228b
Ensembl Gene ENSMUSG00000050545
Gene Name family with sequence similarity 228, member B
Synonyms A830093I24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # IGL02431
Quality Score
Status
Chromosome 12
Chromosomal Location 4789888-4819259 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4812370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 136 (Y136C)
Ref Sequence ENSEMBL: ENSMUSP00000151270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053458] [ENSMUST00000218199] [ENSMUST00000218575] [ENSMUST00000219898]
AlphaFold Q497Q6
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
Abca17 T A 17: 24,517,958 (GRCm39) I784L probably benign Het
Abcc1 T A 16: 14,237,598 (GRCm39) V473E probably damaging Het
Agap3 A G 5: 24,706,010 (GRCm39) E758G probably damaging Het
C6 A T 15: 4,789,343 (GRCm39) K263* probably null Het
Cep78 T C 19: 15,936,943 (GRCm39) T588A probably benign Het
Cfap20dc T C 14: 8,659,424 (GRCm38) N57S probably damaging Het
Col4a3 C T 1: 82,657,344 (GRCm39) Q815* probably null Het
Dcaf10 A G 4: 45,342,630 (GRCm39) M155V probably benign Het
Fryl A T 5: 73,255,651 (GRCm39) H793Q probably benign Het
Gm10134 T C 2: 28,396,429 (GRCm39) probably benign Het
Gm6505 T C 3: 28,819,169 (GRCm39) noncoding transcript Het
Il31ra A G 13: 112,666,830 (GRCm39) F416S probably damaging Het
Lipc A G 9: 70,841,750 (GRCm39) probably benign Het
Lrp4 A G 2: 91,306,982 (GRCm39) K368E possibly damaging Het
Lrriq1 A T 10: 103,036,500 (GRCm39) N884K probably damaging Het
Mrgprx1 T C 7: 47,670,875 (GRCm39) R291G probably benign Het
Myo15a T A 11: 60,401,465 (GRCm39) V3057E possibly damaging Het
Or11g1 T A 14: 50,651,226 (GRCm39) I75N probably damaging Het
Or14j8 T A 17: 38,263,413 (GRCm39) R167S probably benign Het
Postn A T 3: 54,282,517 (GRCm39) I493F probably damaging Het
Ptpn22 C A 3: 103,810,713 (GRCm39) F713L probably benign Het
Pygm T C 19: 6,438,148 (GRCm39) V239A probably damaging Het
Rangrf C A 11: 68,863,565 (GRCm39) C147F probably benign Het
Rnf112 C T 11: 61,341,205 (GRCm39) R460H probably benign Het
Sh3d19 A G 3: 86,014,305 (GRCm39) E423G probably damaging Het
Tasor2 A G 13: 3,624,736 (GRCm39) V1738A possibly damaging Het
Tipin A G 9: 64,208,467 (GRCm39) K204E probably benign Het
Traf3ip1 A T 1: 91,427,357 (GRCm39) Q109L unknown Het
Ttc21b A T 2: 66,082,229 (GRCm39) probably benign Het
Ttn C A 2: 76,804,460 (GRCm39) A271S probably benign Het
Vegfb C A 19: 6,963,386 (GRCm39) probably null Het
Vmn1r15 T A 6: 57,235,888 (GRCm39) L252H possibly damaging Het
Wipi1 A T 11: 109,494,617 (GRCm39) V72D probably damaging Het
Zmym1 G A 4: 126,941,557 (GRCm39) Q944* probably null Het
Other mutations in Fam228b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00670:Fam228b APN 12 4,814,081 (GRCm39) missense probably damaging 1.00
IGL01542:Fam228b APN 12 4,813,055 (GRCm39) missense probably damaging 1.00
R0049:Fam228b UTSW 12 4,798,117 (GRCm39) missense probably damaging 1.00
R0049:Fam228b UTSW 12 4,798,117 (GRCm39) missense probably damaging 1.00
R0345:Fam228b UTSW 12 4,798,351 (GRCm39) missense possibly damaging 0.71
R0416:Fam228b UTSW 12 4,812,382 (GRCm39) missense probably damaging 0.99
R1860:Fam228b UTSW 12 4,798,314 (GRCm39) missense probably damaging 1.00
R5032:Fam228b UTSW 12 4,813,042 (GRCm39) missense probably damaging 1.00
R6821:Fam228b UTSW 12 4,813,083 (GRCm39) missense probably benign 0.08
R9382:Fam228b UTSW 12 4,798,147 (GRCm39) missense probably damaging 1.00
X0028:Fam228b UTSW 12 4,798,022 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16