Incidental Mutation 'R2910:Fam227a'
ID 261209
Institutional Source Beutler Lab
Gene Symbol Fam227a
Ensembl Gene ENSMUSG00000042564
Gene Name family with sequence similarity 227, member A
Synonyms 4933432B09Rik
MMRRC Submission 040497-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R2910 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 79493777-79543157 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79520935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 296 (D296E)
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 possibly damaging
Transcript: ENSMUST00000109648
AA Change: D300E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000105275
Gene: ENSMUSG00000042564
AA Change: D300E

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 possibly damaging
Transcript: ENSMUST00000187519
AA Change: D300E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139524
Gene: ENSMUSG00000042564
AA Change: D300E

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 possibly damaging
Transcript: ENSMUST00000229064
AA Change: D296E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000230366
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230475
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 96% (49/51)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 A G 16: 20,378,982 (GRCm39) T645A probably damaging Het
Acap1 A G 11: 69,777,902 (GRCm39) probably benign Het
Adgrv1 G A 13: 81,705,238 (GRCm39) A1524V possibly damaging Het
Agbl1 A G 7: 76,069,586 (GRCm39) N121D probably benign Het
Ahnak A G 19: 8,989,018 (GRCm39) D3434G probably damaging Het
Ankrd11 A T 8: 123,635,537 (GRCm39) D32E probably damaging Het
Asxl1 T C 2: 153,242,959 (GRCm39) S1170P probably benign Het
Atp8b3 G A 10: 80,355,746 (GRCm39) S1322F possibly damaging Het
Car15 G A 16: 17,656,006 (GRCm39) probably benign Het
Cep104 T A 4: 154,079,884 (GRCm39) probably null Het
Cnnm1 A G 19: 43,458,086 (GRCm39) I633V possibly damaging Het
Cog8 A T 8: 107,780,853 (GRCm39) V135E probably benign Het
Cts6 A G 13: 61,344,215 (GRCm39) V279A probably damaging Het
Ddx1 C T 12: 13,281,441 (GRCm39) probably null Het
Dock2 A G 11: 34,182,910 (GRCm39) probably benign Het
Ero1b T A 13: 12,615,178 (GRCm39) D336E probably damaging Het
F11 C G 8: 45,694,486 (GRCm39) *625S probably null Het
F5 A G 1: 164,032,389 (GRCm39) M1779V probably benign Het
Fbxo38 T C 18: 62,652,878 (GRCm39) D523G probably benign Het
Ggt1 G A 10: 75,416,430 (GRCm39) V275M probably benign Het
Gm379 A C X: 107,708,371 (GRCm39) F43V possibly damaging Het
Grhl3 T C 4: 135,286,457 (GRCm39) I75V probably benign Het
Iqcm A T 8: 76,441,404 (GRCm39) I226F probably benign Het
Kcnq1 T G 7: 142,979,699 (GRCm39) L615R probably damaging Het
Lcp2 G A 11: 34,018,970 (GRCm39) probably null Het
Lypd8l G A 11: 58,499,252 (GRCm39) Q189* probably null Het
Mbtps1 A G 8: 120,272,776 (GRCm39) I123T possibly damaging Het
Muc5ac C T 7: 141,361,378 (GRCm39) T1563I probably damaging Het
Odf2l A C 3: 144,830,084 (GRCm39) I19L probably benign Het
Or5ak23 T A 2: 85,244,695 (GRCm39) H176L probably damaging Het
Or5h25 C T 16: 58,930,544 (GRCm39) R143H probably benign Het
Pigr A G 1: 130,777,270 (GRCm39) D692G probably damaging Het
Pkd1l3 A G 8: 110,394,268 (GRCm39) probably benign Het
Plekhg4 TAGTCGATGCCCGAGTC TAGTC 8: 106,103,084 (GRCm39) probably benign Het
Reep2 T C 18: 34,978,743 (GRCm39) probably null Het
Rubcnl C T 14: 75,278,248 (GRCm39) T344I probably benign Het
Sema6d C A 2: 124,506,957 (GRCm39) P941T probably damaging Het
Shcbp1l C A 1: 153,304,372 (GRCm39) L144I probably damaging Het
Slc7a1 T C 5: 148,289,067 (GRCm39) E60G probably benign Het
Snx2 C T 18: 53,332,946 (GRCm39) P207S probably damaging Het
Spata31 T G 13: 65,068,250 (GRCm39) S133A probably benign Het
Tac1 A G 6: 7,559,097 (GRCm39) probably null Het
Tfpi A C 2: 84,274,437 (GRCm39) V184G possibly damaging Het
Tmeff1 C A 4: 48,614,961 (GRCm39) N139K possibly damaging Het
Tnxb A G 17: 34,891,424 (GRCm39) D589G probably damaging Het
Trpc1 C A 9: 95,631,895 (GRCm39) A16S probably benign Het
Vmn2r106 A C 17: 20,498,946 (GRCm39) L322V probably damaging Het
Vmn2r69 G T 7: 85,055,918 (GRCm39) A740D probably damaging 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
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
R6532:Fam227a UTSW 15 79,520,921 (GRCm39) missense probably benign 0.00
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'- TTGAAAGTCTGAGAGATAATCTGGTGG -3'
(R):5'- GTTCTGCAGGTGAACAAACCC -3'

Sequencing Primer
(F):5'- TGGAGACATCAATGCCCTGGTAC -3'
(R):5'- TTCTGCAGGTGAACAAACCCTCTAG -3'
Posted On 2015-01-23