Incidental Mutation 'R0332:Fam228a'
ID 35939
Institutional Source Beutler Lab
Gene Symbol Fam228a
Ensembl Gene ENSMUSG00000079177
Gene Name family with sequence similarity 228, member A
Synonyms 4930417G10Rik
MMRRC Submission 038541-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R0332 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 4763670-4788430 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4785018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 38 (I38F)
Ref Sequence ENSEMBL: ENSMUSP00000152506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111154] [ENSMUST00000219898] [ENSMUST00000222363] [ENSMUST00000220978]
AlphaFold Q8CDW1
Predicted Effect probably damaging
Transcript: ENSMUST00000111154
AA Change: I38F

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: ENSMUST00000222363
AA Change: I38F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000220978
AA Change: I38F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.0773 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aggf1 T C 13: 95,505,954 (GRCm39) E211G probably damaging Het
Aox3 A G 1: 58,181,910 (GRCm39) N299S probably benign Het
Arhgef7 T A 8: 11,874,701 (GRCm39) Y777* probably null Het
Atad1 A G 19: 32,679,934 (GRCm39) probably benign Het
Bltp3a T C 17: 28,112,268 (GRCm39) probably null Het
Bop1 A G 15: 76,340,187 (GRCm39) Y130H probably damaging Het
Ccar2 G T 14: 70,379,384 (GRCm39) probably benign Het
Ccdc110 G T 8: 46,396,001 (GRCm39) E631* probably null Het
Cfap54 C T 10: 92,871,319 (GRCm39) D634N probably damaging Het
Cldn8 C T 16: 88,359,246 (GRCm39) silent Het
Cstf3 G T 2: 104,476,812 (GRCm39) probably null Het
Dgkq T C 5: 108,802,965 (GRCm39) probably benign Het
Dsp T A 13: 38,366,204 (GRCm39) L546* probably null Het
Eif3g A T 9: 20,809,280 (GRCm39) probably benign Het
Fto A T 8: 92,128,518 (GRCm39) probably benign Het
Gcnt4 G T 13: 97,083,018 (GRCm39) V105L probably benign Het
Gm10644 A G 8: 84,660,210 (GRCm39) L45S possibly damaging Het
Gm7275 A T 16: 47,894,132 (GRCm39) noncoding transcript Het
Gm7579 T C 7: 141,766,112 (GRCm39) S173P unknown Het
Gpatch8 T C 11: 102,372,668 (GRCm39) N290S unknown Het
Grep1 A T 17: 23,933,578 (GRCm39) probably benign Het
Hspb8 T A 5: 116,547,532 (GRCm39) D150V probably damaging Het
Ifitm1 T C 7: 140,548,366 (GRCm39) probably benign Het
Ifnl2 T C 7: 28,208,756 (GRCm39) T99A possibly damaging Het
Ints4 T C 7: 97,166,925 (GRCm39) L577P probably damaging Het
Jph4 T C 14: 55,351,467 (GRCm39) E183G possibly damaging Het
Loxhd1 T A 18: 77,471,526 (GRCm39) probably null Het
Mug1 G A 6: 121,826,856 (GRCm39) probably null Het
Nlrp2 C A 7: 5,320,629 (GRCm39) C836F probably damaging Het
Nup210l G T 3: 90,039,616 (GRCm39) probably benign Het
Optn C T 2: 5,028,926 (GRCm39) G526R probably damaging Het
Or51h1 A T 7: 102,308,672 (GRCm39) I215F probably damaging Het
Or7e178 A G 9: 20,225,352 (GRCm39) L288S probably benign Het
Phykpl A G 11: 51,477,502 (GRCm39) E98G probably benign Het
Pikfyve A G 1: 65,303,558 (GRCm39) N1648D probably benign Het
Plppr5 A T 3: 117,465,581 (GRCm39) R277S probably benign Het
Ppp1r36 T A 12: 76,474,677 (GRCm39) F86L probably benign Het
Ptgis A T 2: 167,056,753 (GRCm39) L278Q probably damaging Het
Rasa2 A T 9: 96,488,229 (GRCm39) F90Y probably damaging Het
Setd3 T C 12: 108,073,838 (GRCm39) K480E probably benign Het
Slc66a1 C T 4: 139,027,610 (GRCm39) S244N possibly damaging Het
Snx2 T C 18: 53,345,983 (GRCm39) F389L probably benign Het
Sulf2 G A 2: 165,931,119 (GRCm39) T296M probably benign Het
Supt16 A T 14: 52,418,614 (GRCm39) H214Q probably damaging Het
Tbx4 A T 11: 85,789,356 (GRCm39) M12L probably benign Het
Tlk1 A T 2: 70,575,909 (GRCm39) probably null Het
Tmprss7 C T 16: 45,501,001 (GRCm39) V267M probably benign Het
Tmub2 G A 11: 102,179,174 (GRCm39) R291H probably damaging Het
Trpm2 A T 10: 77,783,822 (GRCm39) V217E probably damaging Het
Try10 T A 6: 41,331,154 (GRCm39) V10E probably benign Het
Ttn A G 2: 76,596,226 (GRCm39) V20229A probably benign Het
Ttn A C 2: 76,608,538 (GRCm39) probably null Het
Usf2 T A 7: 30,654,604 (GRCm39) M199L possibly damaging Het
Usp37 A T 1: 74,534,869 (GRCm39) S26T possibly damaging Het
Vrk1 G C 12: 106,024,884 (GRCm39) Q253H probably benign Het
Wdr72 A T 9: 74,064,534 (GRCm39) probably null Het
Xrra1 T C 7: 99,525,449 (GRCm39) F123L probably damaging Het
Zfhx3 T C 8: 109,673,255 (GRCm39) I1435T probably damaging Het
Zfp712 T A 13: 67,188,877 (GRCm39) H550L probably damaging 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
IGL03247:Fam228a APN 12 4,787,734 (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
Predicted Primers PCR Primer
(F):5'- TTGTCATCTTCCCAGCAGAGCG -3'
(R):5'- AGACCTAGCAGAAGGCAAATCTTCAAG -3'

Sequencing Primer
(F):5'- CAGAGCGTGGCAGAGGC -3'
(R):5'- ggtggagggcagaaaatgag -3'
Posted On 2013-05-09