Incidental Mutation 'R1200:Fam227a'
ID 101325
Institutional Source Beutler Lab
Gene Symbol Fam227a
Ensembl Gene ENSMUSG00000042564
Gene Name family with sequence similarity 227, member A
Synonyms 4933432B09Rik
MMRRC Submission 039270-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R1200 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 79493777-79543157 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79496738 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 613 (F613S)
Ref Sequence ENSEMBL: ENSMUSP00000155261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109646] [ENSMUST00000109648] [ENSMUST00000187519] [ENSMUST00000191401] [ENSMUST00000229064]
AlphaFold Q9D3V8
Predicted Effect possibly damaging
Transcript: ENSMUST00000109646
AA Change: F261S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105273
Gene: ENSMUSG00000042564
AA Change: F261S

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: F617S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000105275
Gene: ENSMUSG00000042564
AA Change: F617S

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: F617S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000139524
Gene: ENSMUSG00000042564
AA Change: F617S

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: F613S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.6%
  • 20x: 87.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,667,536 (GRCm39) F309S unknown Het
Abcc2 A T 19: 43,822,426 (GRCm39) Q1421H probably damaging Het
Acat1 T A 9: 53,494,810 (GRCm39) I361F possibly damaging Het
Akp3 T A 1: 87,052,982 (GRCm39) I57N probably damaging Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Axin2 C A 11: 108,822,376 (GRCm39) D309E probably damaging Het
Clstn3 G T 6: 124,436,129 (GRCm39) P207T probably damaging Het
Dip2b C A 15: 100,107,626 (GRCm39) A1212E probably benign Het
Dnah5 A G 15: 28,246,403 (GRCm39) I580M possibly damaging Het
Dpp3 T C 19: 4,973,157 (GRCm39) T146A probably benign Het
Fam83b T C 9: 76,399,594 (GRCm39) D503G probably damaging Het
Flot2 C T 11: 77,945,631 (GRCm39) T2M probably damaging Het
Herc1 T C 9: 66,393,406 (GRCm39) L4095S probably damaging Het
Kcnh7 T C 2: 62,607,739 (GRCm39) Y614C probably damaging Het
Lcp1 T A 14: 75,466,742 (GRCm39) F616L possibly damaging Het
Myh15 T A 16: 48,916,882 (GRCm39) Y401N probably damaging Het
Neb T C 2: 52,057,657 (GRCm39) Y6144C probably damaging Het
Nr1h5 A G 3: 102,855,178 (GRCm39) F308L probably damaging Het
Ntn5 G T 7: 45,341,806 (GRCm39) V309L possibly damaging Het
Or51aa2 T A 7: 103,188,274 (GRCm39) T56S probably benign Het
Or8k21 A T 2: 86,145,477 (GRCm39) L51Q probably damaging Het
Pex1 G A 5: 3,656,411 (GRCm39) probably null Het
Pld1 A T 3: 28,103,435 (GRCm39) D380V probably damaging Het
Prdm1 A G 10: 44,326,126 (GRCm39) Y148H probably damaging Het
Ptchd3 T C 11: 121,722,087 (GRCm39) probably null Het
Rnf17 C T 14: 56,705,163 (GRCm39) T689I probably benign Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Twf1 A T 15: 94,484,239 (GRCm39) H94Q probably benign Het
Vmn2r13 T G 5: 109,322,068 (GRCm39) I210L probably damaging Het
Zbtb49 T C 5: 38,370,675 (GRCm39) E402G 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
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
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'- AGCAGCTCAGCTCCCTTCTGATAC -3'
(R):5'- GCAGTGAATACACTGTACCACACGC -3'

Sequencing Primer
(F):5'- gctCCCTTCTGATACGTGGTG -3'
(R):5'- ATACACTGTACCACACGCTCTTC -3'
Posted On 2014-01-15