Incidental Mutation 'R5937:Fam228a'
ID 462334
Institutional Source Beutler Lab
Gene Symbol Fam228a
Ensembl Gene ENSMUSG00000079177
Gene Name family with sequence similarity 228, member A
Synonyms 4930417G10Rik
MMRRC Submission 043242-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R5937 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 4763670-4788430 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4787725 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 16 (E16G)
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: E16G

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: E16G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000222363
AA Change: E16G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223500
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg A T 15: 60,791,495 (GRCm39) W314R probably benign Het
Adgrv1 A T 13: 81,255,194 (GRCm39) V6143E probably damaging Het
Agap3 C T 5: 24,682,815 (GRCm39) T261I probably damaging Het
Ano6 T C 15: 95,811,838 (GRCm39) I241T probably damaging Het
Arhgef28 T C 13: 98,076,051 (GRCm39) T1328A probably benign Het
Capn10 C T 1: 92,867,105 (GRCm39) R112W probably damaging Het
Car5a A T 8: 122,666,560 (GRCm39) W46R probably damaging Het
Cntn6 C A 6: 104,810,064 (GRCm39) T582K possibly damaging Het
Ctsh T C 9: 89,943,509 (GRCm39) V60A probably benign Het
Ctsll3 A G 13: 60,947,410 (GRCm39) F259L probably damaging Het
Dennd2b A T 7: 109,156,478 (GRCm39) C91S possibly damaging Het
G3bp2 A G 5: 92,203,256 (GRCm39) I388T probably damaging Het
Galnt5 A T 2: 57,928,949 (GRCm39) K926N probably benign Het
Gm10097 G A 10: 5,019,485 (GRCm39) probably benign Het
Gm9978 T A 10: 78,322,675 (GRCm39) noncoding transcript Het
Gria1 A G 11: 57,080,559 (GRCm39) T112A probably benign Het
Hnrnpk A C 13: 58,543,016 (GRCm39) V134G probably damaging Het
Insr A G 8: 3,224,808 (GRCm39) V220A probably benign Het
Lhx4 A G 1: 155,586,023 (GRCm39) I96T probably damaging Het
Lrp1 T C 10: 127,419,745 (GRCm39) T955A possibly damaging Het
Lrtm1 T C 14: 28,743,787 (GRCm39) V85A possibly damaging Het
Man2a2 T C 7: 80,013,251 (GRCm39) Y514C probably damaging Het
Npas1 T A 7: 16,197,187 (GRCm39) D226V probably benign Het
Nrcam G A 12: 44,619,074 (GRCm39) V858I probably benign Het
Or14c40 G T 7: 86,313,684 (GRCm39) L271F probably benign Het
Or5b108 T A 19: 13,168,675 (GRCm39) S215T probably damaging Het
Pde6b G T 5: 108,572,193 (GRCm39) A478S probably benign Het
Pex1 T A 5: 3,674,487 (GRCm39) N789K possibly damaging Het
Plekha6 A G 1: 133,187,839 (GRCm39) D120G possibly damaging Het
Pomgnt1 A G 4: 116,011,110 (GRCm39) T220A probably benign Het
Sdr39u1 A T 14: 56,135,364 (GRCm39) I193K probably damaging Het
Sec61a2 C A 2: 5,891,368 (GRCm39) M54I probably benign Het
Sema5a A G 15: 32,574,987 (GRCm39) Y365C probably damaging Het
Sra1 C T 18: 36,804,652 (GRCm39) probably null Het
Taf5 C T 19: 47,070,334 (GRCm39) S640L probably damaging Het
Tas2r140 T A 6: 133,032,236 (GRCm39) H174L probably benign Het
Tmem63a T A 1: 180,788,716 (GRCm39) V351D probably damaging Het
Ttll7 C T 3: 146,649,847 (GRCm39) Q626* probably null Het
Ubn2 T A 6: 38,440,917 (GRCm39) V263E possibly damaging Het
Vmn2r106 C T 17: 20,505,667 (GRCm39) W9* probably null Het
Xrcc3 C G 12: 111,774,406 (GRCm39) C141S probably null Het
Zfp516 T A 18: 82,974,958 (GRCm39) D385E 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
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
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'- GGCCTTGAAGTACTTTCACCC -3'
(R):5'- GCAACCAGTAATGCTATCTCCTTC -3'

Sequencing Primer
(F):5'- TTGAAGTACTTTCACCCGAGAAAC -3'
(R):5'- AGTAATGCTATCTCCTTCTGTCCCAG -3'
Posted On 2017-02-28