Incidental Mutation 'R5369:Fam227a'
ID 429573
Institutional Source Beutler Lab
Gene Symbol Fam227a
Ensembl Gene ENSMUSG00000042564
Gene Name family with sequence similarity 227, member A
Synonyms 4933432B09Rik
MMRRC Submission 042946-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R5369 (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 79499637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 573 (S573T)
Ref Sequence ENSEMBL: ENSMUSP00000155261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109646] [ENSMUST00000109648] [ENSMUST00000187519] [ENSMUST00000191401] [ENSMUST00000229064] [ENSMUST00000230366]
AlphaFold Q9D3V8
Predicted Effect probably benign
Transcript: ENSMUST00000109646
AA Change: S221T

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105273
Gene: ENSMUSG00000042564
AA Change: S221T

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: S577T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000105275
Gene: ENSMUSG00000042564
AA Change: S577T

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: S577T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000139524
Gene: ENSMUSG00000042564
AA Change: S577T

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: S573T

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000230366
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (77/78)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,545,796 (GRCm39) T444A probably damaging Het
A330070K13Rik G A 5: 130,407,932 (GRCm39) probably benign Het
Abcb8 C T 5: 24,605,137 (GRCm39) R108C possibly damaging Het
Acbd5 T A 2: 23,002,522 (GRCm39) L508Q probably damaging Het
Asb15 T C 6: 24,562,563 (GRCm39) V175A probably benign Het
B3galnt2 T C 13: 14,169,010 (GRCm39) probably null Het
BC024139 A C 15: 76,004,422 (GRCm39) S711R probably benign Het
Bod1l A G 5: 41,984,526 (GRCm39) I508T probably damaging Het
Btnl6 T A 17: 34,726,959 (GRCm39) R524* probably null Het
C3 C A 17: 57,528,159 (GRCm39) D687Y probably benign Het
Ccbe1 G A 18: 66,194,485 (GRCm39) A367V probably benign Het
Ccr1 A T 9: 123,764,326 (GRCm39) M68K probably damaging Het
Cd27 T A 6: 125,211,327 (GRCm39) probably benign Het
Celf2 C A 2: 7,085,892 (GRCm39) probably benign Het
Cfap54 T C 10: 92,897,119 (GRCm39) probably benign Het
Cfap97 A G 8: 46,622,687 (GRCm39) K26E probably damaging Het
Clcn4 T A 7: 7,299,032 (GRCm39) I48F probably benign Het
Cnot7 A T 8: 40,947,061 (GRCm39) N238K probably benign Het
Colec12 A G 18: 9,866,750 (GRCm39) I654V unknown Het
Dip2a A G 10: 76,128,194 (GRCm39) I22T probably damaging Het
Eif4g3 C T 4: 137,910,645 (GRCm39) T1375M possibly damaging Het
Eml5 C T 12: 98,825,042 (GRCm39) G725D probably damaging Het
F12 T C 13: 55,566,304 (GRCm39) E496G probably benign Het
Fnip1 T C 11: 54,393,415 (GRCm39) V593A probably benign Het
Focad T A 4: 88,039,610 (GRCm39) probably benign Het
Frem1 A G 4: 82,919,976 (GRCm39) I460T possibly damaging Het
Galnt10 T G 11: 57,656,573 (GRCm39) probably null Het
Gm5592 A T 7: 40,867,635 (GRCm39) probably benign Het
Gm6185 A T 1: 161,037,330 (GRCm39) noncoding transcript Het
Gm7935 A T 15: 73,952,963 (GRCm39) noncoding transcript Het
Grb14 C T 2: 64,747,653 (GRCm39) V369I probably benign Het
Gstm5 G A 3: 107,805,782 (GRCm39) A198T probably damaging Het
Herc2 T A 7: 55,832,448 (GRCm39) V3048D probably damaging Het
Htra4 T G 8: 25,523,585 (GRCm39) I327L possibly damaging Het
Ifi209 T C 1: 173,464,873 (GRCm39) M1T probably null Het
Ints6 T C 14: 62,981,384 (GRCm39) T135A probably damaging Het
Itpr1 T A 6: 108,496,385 (GRCm39) I2604N probably damaging Het
Krt6a T A 15: 101,600,993 (GRCm39) M268L probably benign Het
Lrp1b G T 2: 40,894,625 (GRCm39) S2201* probably null Het
Lrp2 T C 2: 69,289,904 (GRCm39) N3645S probably benign Het
Lrrc15 A T 16: 30,091,722 (GRCm39) I539N possibly damaging Het
Map3k6 T C 4: 132,974,992 (GRCm39) I675T probably damaging Het
Map3k9 T A 12: 81,768,826 (GRCm39) E1074V probably damaging Het
Med13l T A 5: 118,862,075 (GRCm39) S339R probably benign Het
Mrps18a T C 17: 46,436,552 (GRCm39) probably benign Het
Mtcl2 T C 2: 156,882,654 (GRCm39) E466G probably damaging Het
Nat8f2 G T 6: 85,844,854 (GRCm39) Y169* probably null Het
Nlrp1b A G 11: 71,072,625 (GRCm39) I406T probably benign Het
Npc1l1 A G 11: 6,167,705 (GRCm39) probably null Het
Or10z1 A G 1: 174,078,007 (GRCm39) V162A probably damaging Het
Or5ac20 A T 16: 59,104,743 (GRCm39) M39K probably damaging Het
Ostf1 C T 19: 18,558,689 (GRCm39) G198E probably benign Het
Pcsk5 A G 19: 17,558,619 (GRCm39) V596A probably damaging Het
Pde4c T C 8: 71,202,754 (GRCm39) *647Q probably null Het
Pkm A T 9: 59,577,917 (GRCm39) I245F probably damaging Het
Prss3b T A 6: 41,009,940 (GRCm39) R131S probably benign Het
Ptprj T C 2: 90,299,985 (GRCm39) H179R probably benign Het
Rapgef2 A T 3: 78,976,739 (GRCm39) S1356T probably benign Het
Rbm45 T A 2: 76,200,594 (GRCm39) L41Q probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Scel A T 14: 103,823,929 (GRCm39) I386F probably benign Het
Serpinb5 A T 1: 106,809,487 (GRCm39) N298Y possibly damaging Het
Sirt3 A T 7: 140,449,406 (GRCm39) L180Q probably damaging Het
Slc24a2 C T 4: 86,909,625 (GRCm39) V698I probably damaging Het
Slc43a3 A T 2: 84,788,067 (GRCm39) H483L probably damaging Het
Snrnp35 A G 5: 124,628,262 (GRCm39) D25G probably benign Het
Snrnp40 T C 4: 130,256,439 (GRCm39) S55P probably damaging Het
Snx9 T A 17: 5,970,855 (GRCm39) C399S probably damaging Het
Ttbk2 T C 2: 120,655,743 (GRCm39) probably benign Het
Vmn1r1 A G 1: 181,985,341 (GRCm39) V108A possibly damaging Het
Vmn1r201 T A 13: 22,659,672 (GRCm39) N295K probably benign Het
Zfp292 G A 4: 34,807,491 (GRCm39) P1851L possibly damaging Het
Zfp472 A T 17: 33,196,717 (GRCm39) D264V 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
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
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'- AAGCTCTTCCAGTCAGGTCTC -3'
(R):5'- GATTAATGAGCGGCATGGCC -3'

Sequencing Primer
(F):5'- GGTCTCTCCTGCAAACCCCAG -3'
(R):5'- ATGGCCTTGTGCTGACC -3'
Posted On 2016-09-06