Incidental Mutation 'R6532:Fam227a'
ID 522448
Institutional Source Beutler Lab
Gene Symbol Fam227a
Ensembl Gene ENSMUSG00000042564
Gene Name family with sequence similarity 227, member A
Synonyms 4933432B09Rik
MMRRC Submission 044658-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R6532 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 79493777-79543157 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 79520921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 301 (R301Q)
Ref Sequence ENSEMBL: ENSMUSP00000155261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109646] [ENSMUST00000109648] [ENSMUST00000187519] [ENSMUST00000191401] [ENSMUST00000229064] [ENSMUST00000230366]
AlphaFold Q9D3V8
Predicted Effect noncoding transcript
Transcript: ENSMUST00000046816
SMART Domains Protein: ENSMUSP00000048277
Gene: ENSMUSG00000042564

DomainStartEndE-ValueType
Pfam:FWWh 128 242 6.3e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109646
SMART Domains Protein: ENSMUSP00000105273
Gene: ENSMUSG00000042564

DomainStartEndE-ValueType
low complexity region 156 175 N/A INTRINSIC
low complexity region 204 211 N/A INTRINSIC
low complexity region 243 253 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109648
AA Change: R305Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105275
Gene: ENSMUSG00000042564
AA Change: R305Q

DomainStartEndE-ValueType
Pfam:FWWh 134 295 1.4e-51 PFAM
low complexity region 512 531 N/A INTRINSIC
low complexity region 560 567 N/A INTRINSIC
low complexity region 599 609 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187519
AA Change: R305Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000139524
Gene: ENSMUSG00000042564
AA Change: R305Q

DomainStartEndE-ValueType
Pfam:FWWh 132 295 1e-47 PFAM
low complexity region 512 531 N/A INTRINSIC
low complexity region 560 567 N/A INTRINSIC
low complexity region 599 609 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191401
Predicted Effect probably benign
Transcript: ENSMUST00000229064
AA Change: R301Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230475
Predicted Effect probably benign
Transcript: ENSMUST00000230366
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.1%
Validation Efficiency 100% (34/34)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A G 7: 45,626,803 (GRCm39) L1418P probably damaging Het
Adal A G 2: 120,976,604 (GRCm39) probably null Het
Atr T A 9: 95,790,461 (GRCm39) N1600K probably benign Het
Cubn T C 2: 13,463,813 (GRCm39) T631A probably benign Het
Dpp9 C T 17: 56,512,854 (GRCm39) G118D possibly damaging Het
Ear1 C T 14: 44,056,709 (GRCm39) R53H probably benign Het
Exoc1 T C 5: 76,685,684 (GRCm39) V132A probably damaging Het
Garnl3 A T 2: 32,921,131 (GRCm39) M298K possibly damaging Het
Glb1l3 T C 9: 26,729,738 (GRCm39) D619G probably benign Het
Haspin A T 11: 73,028,377 (GRCm39) C237* probably null Het
Hook1 T G 4: 95,907,993 (GRCm39) probably null Het
Hoxa7 A G 6: 52,194,295 (GRCm39) F31L probably benign Het
Hoxb7 C A 11: 96,177,714 (GRCm39) S54* probably null Het
Idh3b AG AGCACCACAACTG 2: 130,121,593 (GRCm39) probably null Het
Ifi207 A G 1: 173,557,211 (GRCm39) V516A possibly damaging Het
Inca1 T C 11: 70,586,733 (GRCm39) M1V probably null Het
Kcnt2 A G 1: 140,511,844 (GRCm39) T933A probably damaging Het
Lama4 G A 10: 38,924,073 (GRCm39) D494N possibly damaging Het
Lrp1 A C 10: 127,377,551 (GRCm39) H4133Q probably damaging Het
Lrp1 A G 10: 127,385,276 (GRCm39) F3542L probably damaging Het
Myo1f A G 17: 33,794,820 (GRCm39) D20G probably damaging Het
Nlk G T 11: 78,586,881 (GRCm39) A71E probably damaging Het
Nvl G A 1: 180,971,708 (GRCm39) probably null Het
Or9m1 A T 2: 87,733,546 (GRCm39) I158N probably damaging Het
Pakap T C 4: 57,855,174 (GRCm39) F168L probably benign Het
Pcnx1 C A 12: 82,027,738 (GRCm39) H1601N probably damaging Het
Pnkp T A 7: 44,506,829 (GRCm39) M1K probably null Het
Skic2 G A 17: 35,063,719 (GRCm39) R575C probably damaging Het
Slc25a54 A G 3: 109,019,368 (GRCm39) Y324C probably damaging Het
Tdrd3 A G 14: 87,743,252 (GRCm39) E400G probably damaging Het
Unc5b A G 10: 60,614,607 (GRCm39) I230T possibly damaging Het
Wfdc2 A G 2: 164,405,296 (GRCm39) T50A probably benign Het
Zfp563 A G 17: 33,324,672 (GRCm39) I422M probably benign Het
Other mutations in Fam227a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01650:Fam227a APN 15 79,518,274 (GRCm39) missense possibly damaging 0.66
IGL01807:Fam227a APN 15 79,533,856 (GRCm39) missense probably benign 0.03
IGL01936:Fam227a APN 15 79,496,747 (GRCm39) missense possibly damaging 0.90
IGL02355:Fam227a APN 15 79,528,139 (GRCm39) intron probably benign
IGL02362:Fam227a APN 15 79,528,139 (GRCm39) intron probably benign
IGL02569:Fam227a APN 15 79,518,323 (GRCm39) missense probably benign
IGL02713:Fam227a APN 15 79,520,997 (GRCm39) splice site probably benign
IGL02734:Fam227a APN 15 79,502,042 (GRCm39) splice site probably benign
IGL02816:Fam227a APN 15 79,510,497 (GRCm39) missense possibly damaging 0.66
IGL03354:Fam227a APN 15 79,520,951 (GRCm39) missense possibly damaging 0.91
R0105:Fam227a UTSW 15 79,505,033 (GRCm39) missense possibly damaging 0.90
R0194:Fam227a UTSW 15 79,524,870 (GRCm39) nonsense probably null
R0437:Fam227a UTSW 15 79,528,189 (GRCm39) missense possibly damaging 0.90
R0786:Fam227a UTSW 15 79,510,469 (GRCm39) missense probably benign 0.01
R0925:Fam227a UTSW 15 79,505,006 (GRCm39) missense probably benign 0.04
R1200:Fam227a UTSW 15 79,496,738 (GRCm39) missense possibly damaging 0.66
R1424:Fam227a UTSW 15 79,518,309 (GRCm39) missense probably benign 0.34
R1474:Fam227a UTSW 15 79,499,582 (GRCm39) missense probably damaging 0.97
R1495:Fam227a UTSW 15 79,510,446 (GRCm39) missense probably benign 0.00
R1561:Fam227a UTSW 15 79,520,963 (GRCm39) missense possibly damaging 0.95
R1661:Fam227a UTSW 15 79,504,878 (GRCm39) splice site probably null
R1669:Fam227a UTSW 15 79,504,878 (GRCm39) splice site probably null
R1967:Fam227a UTSW 15 79,521,335 (GRCm39) missense possibly damaging 0.93
R1976:Fam227a UTSW 15 79,510,477 (GRCm39) missense possibly damaging 0.83
R2197:Fam227a UTSW 15 79,507,668 (GRCm39) missense probably damaging 0.97
R2230:Fam227a UTSW 15 79,499,582 (GRCm39) missense possibly damaging 0.66
R2231:Fam227a UTSW 15 79,499,582 (GRCm39) missense possibly damaging 0.66
R2232:Fam227a UTSW 15 79,499,582 (GRCm39) missense possibly damaging 0.66
R2910:Fam227a UTSW 15 79,520,935 (GRCm39) missense possibly damaging 0.81
R3027:Fam227a UTSW 15 79,532,934 (GRCm39) splice site probably null
R3943:Fam227a UTSW 15 79,505,060 (GRCm39) splice site probably benign
R4811:Fam227a UTSW 15 79,499,628 (GRCm39) missense possibly damaging 0.66
R4845:Fam227a UTSW 15 79,533,912 (GRCm39) missense probably damaging 0.99
R4896:Fam227a UTSW 15 79,521,255 (GRCm39) missense probably benign 0.32
R4934:Fam227a UTSW 15 79,521,262 (GRCm39) missense possibly damaging 0.71
R4941:Fam227a UTSW 15 79,524,204 (GRCm39) critical splice donor site probably null
R5225:Fam227a UTSW 15 79,520,936 (GRCm39) missense possibly damaging 0.90
R5369:Fam227a UTSW 15 79,499,637 (GRCm39) missense probably benign 0.27
R5593:Fam227a UTSW 15 79,524,259 (GRCm39) utr 3 prime probably benign
R6311:Fam227a UTSW 15 79,524,895 (GRCm39) missense probably benign 0.23
R6362:Fam227a UTSW 15 79,527,551 (GRCm39) missense possibly damaging 0.53
R7239:Fam227a UTSW 15 79,518,263 (GRCm39) critical splice donor site probably null
R7619:Fam227a UTSW 15 79,501,967 (GRCm39) missense probably benign
R7719:Fam227a UTSW 15 79,504,913 (GRCm39) missense possibly damaging 0.53
R8006:Fam227a UTSW 15 79,518,299 (GRCm39) missense possibly damaging 0.61
R8048:Fam227a UTSW 15 79,533,959 (GRCm39) start codon destroyed probably null
R8175:Fam227a UTSW 15 79,524,861 (GRCm39) missense probably damaging 0.97
R8439:Fam227a UTSW 15 79,514,271 (GRCm39) missense possibly damaging 0.53
R9014:Fam227a UTSW 15 79,504,958 (GRCm39) missense possibly damaging 0.96
R9034:Fam227a UTSW 15 79,532,952 (GRCm39) missense probably benign 0.00
R9582:Fam227a UTSW 15 79,501,978 (GRCm39) missense probably benign 0.33
R9613:Fam227a UTSW 15 79,518,284 (GRCm39) missense probably benign 0.09
R9668:Fam227a UTSW 15 79,526,444 (GRCm39) missense probably benign 0.41
Predicted Primers PCR Primer
(F):5'- GTGGCCAGTTTGAAAGTCTGAG -3'
(R):5'- CAGGTGAACAAACCCTCTAGAG -3'

Sequencing Primer
(F):5'- CTGAGAGATAATCTGGTGGAGACATC -3'
(R):5'- GCAGATCTCAGGTTCCCATTAAG -3'
Posted On 2018-06-06