Incidental Mutation 'IGL03247:Fam228a'
ID 414433
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam228a
Ensembl Gene ENSMUSG00000079177
Gene Name family with sequence similarity 228, member A
Synonyms 4930417G10Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL03247
Quality Score
Status
Chromosome 12
Chromosomal Location 4763670-4788430 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4787734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 13 (F13S)
Ref Sequence ENSEMBL: ENSMUSP00000152506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111154] [ENSMUST00000219898] [ENSMUST00000220978] [ENSMUST00000222363]
AlphaFold Q8CDW1
Predicted Effect probably damaging
Transcript: ENSMUST00000111154
AA Change: F13S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217684
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218905
Predicted Effect probably benign
Transcript: ENSMUST00000219898
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220075
Predicted Effect probably damaging
Transcript: ENSMUST00000220978
AA Change: F13S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000222363
AA Change: F13S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223500
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 T A 14: 56,007,553 (GRCm39) I926F probably damaging Het
Agap3 A G 5: 24,692,820 (GRCm39) N418D probably damaging Het
Alms1 T C 6: 85,655,579 (GRCm39) V3375A possibly damaging Het
Ankrd6 T A 4: 32,860,441 (GRCm39) M1L possibly damaging Het
Aox4 A G 1: 58,303,526 (GRCm39) D1188G probably damaging Het
Car2 T A 3: 14,952,999 (GRCm39) L47Q probably damaging Het
Catsper2 A G 2: 121,240,681 (GRCm39) V107A probably benign Het
Catsperg2 T C 7: 29,416,473 (GRCm39) N313S possibly damaging Het
Dolk T C 2: 30,175,523 (GRCm39) Y174C probably damaging Het
Erfe A G 1: 91,298,147 (GRCm39) E219G probably benign Het
Ern2 T C 7: 121,770,894 (GRCm39) E733G probably benign Het
Fancd2 T C 6: 113,545,169 (GRCm39) V829A probably benign Het
Gid4 C A 11: 60,323,169 (GRCm39) T87N probably benign Het
H2-Ob A G 17: 34,462,466 (GRCm39) K152R probably benign Het
Ifna2 T A 4: 88,601,614 (GRCm39) T135S probably benign Het
Il1rapl2 G A X: 137,690,429 (GRCm39) G298D probably damaging Het
Mbd1 T A 18: 74,407,825 (GRCm39) L174* probably null Het
Mga T A 2: 119,765,994 (GRCm39) D1341E possibly damaging Het
Mmp12 T A 9: 7,348,631 (GRCm39) M54K probably benign Het
Mphosph8 T A 14: 56,916,277 (GRCm39) probably null Het
Mrps23 A G 11: 88,100,922 (GRCm39) probably benign Het
Necab1 C T 4: 14,960,046 (GRCm39) M300I probably benign Het
Nid2 G A 14: 19,829,688 (GRCm39) D660N probably damaging Het
Or2ag12 T A 7: 106,276,754 (GRCm39) H313L probably benign Het
Or9r7 T A 10: 129,962,584 (GRCm39) E114V probably damaging Het
P2ry13 A T 3: 59,117,013 (GRCm39) V255D possibly damaging Het
Peak1 C T 9: 56,165,214 (GRCm39) E905K probably damaging Het
Picalm C A 7: 89,843,499 (GRCm39) Q550K probably benign Het
Rnf103 T A 6: 71,487,289 (GRCm39) V640E possibly damaging Het
Sec31b T G 19: 44,507,379 (GRCm39) K817N possibly damaging Het
Shisal2a A T 4: 108,225,098 (GRCm39) C155S probably benign Het
Skint2 C A 4: 112,483,223 (GRCm39) H209Q probably benign Het
Skint5 T C 4: 113,798,005 (GRCm39) S193G probably damaging Het
Tacr3 A G 3: 134,635,852 (GRCm39) probably benign Het
Tek A G 4: 94,753,680 (GRCm39) M1041V possibly damaging Het
Tm4sf1 A G 3: 57,200,436 (GRCm39) S89P possibly damaging Het
Tusc3 T A 8: 39,597,931 (GRCm39) N299K possibly damaging Het
Washc4 T C 10: 83,400,327 (GRCm39) S418P probably benign Het
Other mutations in Fam228a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00906:Fam228a APN 12 4,782,773 (GRCm39) missense possibly damaging 0.94
IGL01472:Fam228a APN 12 4,765,610 (GRCm39) missense possibly damaging 0.64
IGL02602:Fam228a APN 12 4,782,808 (GRCm39) missense probably benign 0.00
IGL02797:Fam228a APN 12 4,781,484 (GRCm39) missense probably damaging 1.00
R0332:Fam228a UTSW 12 4,785,018 (GRCm39) missense probably damaging 1.00
R0437:Fam228a UTSW 12 4,782,759 (GRCm39) missense probably damaging 1.00
R0454:Fam228a UTSW 12 4,781,457 (GRCm39) missense probably damaging 1.00
R0838:Fam228a UTSW 12 4,785,002 (GRCm39) missense possibly damaging 0.92
R1791:Fam228a UTSW 12 4,782,748 (GRCm39) missense probably damaging 1.00
R1836:Fam228a UTSW 12 4,765,620 (GRCm39) missense probably damaging 1.00
R2256:Fam228a UTSW 12 4,787,775 (GRCm39) start gained probably benign
R2257:Fam228a UTSW 12 4,787,775 (GRCm39) start gained probably benign
R2397:Fam228a UTSW 12 4,768,718 (GRCm39) missense probably benign 0.22
R3731:Fam228a UTSW 12 4,768,671 (GRCm39) missense probably benign 0.44
R3921:Fam228a UTSW 12 4,781,506 (GRCm39) missense probably benign 0.02
R5937:Fam228a UTSW 12 4,787,725 (GRCm39) missense probably damaging 1.00
R7278:Fam228a UTSW 12 4,782,790 (GRCm39) missense probably benign 0.01
R7610:Fam228a UTSW 12 4,781,423 (GRCm39) critical splice donor site probably null
R9134:Fam228a UTSW 12 4,765,686 (GRCm39) missense probably benign 0.27
Posted On 2016-08-02