Incidental Mutation 'IGL03368:Fam227b'
ID 420164
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam227b
Ensembl Gene ENSMUSG00000027209
Gene Name family with sequence similarity 227, member B
Synonyms 4930525F21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # IGL03368
Quality Score
Status
Chromosome 2
Chromosomal Location 125825403-125993924 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 125960983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 215 (D215E)
Ref Sequence ENSEMBL: ENSMUSP00000136349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110446] [ENSMUST00000110448] [ENSMUST00000178118]
AlphaFold Q9D518
Predicted Effect probably damaging
Transcript: ENSMUST00000110446
AA Change: D215E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106076
Gene: ENSMUSG00000027209
AA Change: D215E

DomainStartEndE-ValueType
low complexity region 73 85 N/A INTRINSIC
Pfam:FWWh 136 293 7.6e-54 PFAM
coiled coil region 427 478 N/A INTRINSIC
low complexity region 500 523 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110448
AA Change: D215E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106078
Gene: ENSMUSG00000027209
AA Change: D215E

DomainStartEndE-ValueType
low complexity region 73 85 N/A INTRINSIC
Pfam:FWWh 136 293 3.8e-54 PFAM
coiled coil region 427 478 N/A INTRINSIC
low complexity region 500 523 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156413
Predicted Effect probably damaging
Transcript: ENSMUST00000178118
AA Change: D215E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136349
Gene: ENSMUSG00000027209
AA Change: D215E

DomainStartEndE-ValueType
low complexity region 73 85 N/A INTRINSIC
Pfam:FWWh 140 293 7.2e-50 PFAM
coiled coil region 427 478 N/A INTRINSIC
low complexity region 500 523 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530053G22Rik T C 6: 60,380,530 (GRCm39) noncoding transcript Het
Abca5 A G 11: 110,204,348 (GRCm39) probably benign Het
Agxt2 T A 15: 10,388,256 (GRCm39) C278* probably null Het
Ankar A G 1: 72,714,972 (GRCm39) L384P probably damaging Het
Ankrd55 T C 13: 112,455,090 (GRCm39) probably benign Het
Ap5m1 A G 14: 49,318,593 (GRCm39) probably benign Het
Arhgap18 C T 10: 26,648,689 (GRCm39) S37F possibly damaging Het
Btnl10 G A 11: 58,810,212 (GRCm39) V118I possibly damaging Het
Chst11 C A 10: 82,927,980 (GRCm39) P66T probably benign Het
Cited2 C A 10: 17,599,944 (GRCm39) P84Q possibly damaging Het
Cplane1 T C 15: 8,251,857 (GRCm39) V1914A probably benign Het
Dpy19l4 T A 4: 11,290,253 (GRCm39) I302F possibly damaging Het
Ece2 A G 16: 20,462,908 (GRCm39) E640G possibly damaging Het
Fam184b T C 5: 45,689,166 (GRCm39) D890G possibly damaging Het
Foxp2 A G 6: 15,394,717 (GRCm39) K139R probably damaging Het
Gle1 T C 2: 29,833,805 (GRCm39) C401R probably damaging Het
Gp2 A T 7: 119,052,097 (GRCm39) C206S probably damaging Het
Hdgfl2 G T 17: 56,386,746 (GRCm39) probably benign Het
Hmcn1 T C 1: 150,539,623 (GRCm39) N2956S probably damaging Het
Ifi209 A G 1: 173,470,057 (GRCm39) Q215R possibly damaging Het
Il20rb C T 9: 100,341,174 (GRCm39) probably benign Het
Katnip T C 7: 125,468,030 (GRCm39) probably benign Het
Kif26b A C 1: 178,743,773 (GRCm39) S1290R probably damaging Het
Mical1 A G 10: 41,355,625 (GRCm39) I156M probably damaging Het
Nbas C T 12: 13,378,452 (GRCm39) A613V probably benign Het
Nbea C T 3: 55,987,351 (GRCm39) V380M probably damaging Het
Nutf2 T C 8: 106,602,232 (GRCm39) F14S probably damaging Het
Or4c35 A T 2: 89,808,133 (GRCm39) I4L probably benign Het
Or52r1b T A 7: 102,690,972 (GRCm39) H95Q possibly damaging Het
Parp1 A G 1: 180,408,187 (GRCm39) E236G probably benign Het
Podnl1 G A 8: 84,858,818 (GRCm39) V548I probably benign Het
Ptcd2 T A 13: 99,466,577 (GRCm39) probably benign Het
Pygl T C 12: 70,237,926 (GRCm39) Q704R probably benign Het
Scaper A T 9: 55,563,311 (GRCm39) S492T possibly damaging Het
Sephs1 G A 2: 4,894,080 (GRCm39) D94N possibly damaging Het
Slc22a29 A C 19: 8,184,626 (GRCm39) probably null Het
Slc22a8 G T 19: 8,586,483 (GRCm39) probably benign Het
Slfn5 A G 11: 82,847,211 (GRCm39) D32G possibly damaging Het
Sphkap T A 1: 83,253,397 (GRCm39) T1451S probably benign Het
Srp54a A C 12: 55,138,051 (GRCm39) E63A probably null Het
Stap1 T A 5: 86,238,827 (GRCm39) I165N probably damaging Het
Terf2 T C 8: 107,797,181 (GRCm39) E494G probably damaging Het
Trak1 C A 9: 121,196,188 (GRCm39) L7I possibly damaging Het
Twnk T C 19: 44,998,931 (GRCm39) V557A probably damaging Het
U2af2 T A 7: 5,070,263 (GRCm39) probably benign Het
Ube2j1 T A 4: 33,038,317 (GRCm39) I75N probably damaging Het
Ubr5 A G 15: 37,998,560 (GRCm39) V1643A probably damaging Het
Vsx2 A G 12: 84,617,074 (GRCm39) T120A probably benign Het
Other mutations in Fam227b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Fam227b APN 2 125,986,245 (GRCm39) critical splice acceptor site probably null
IGL00970:Fam227b APN 2 125,968,980 (GRCm39) missense probably benign 0.01
IGL02040:Fam227b APN 2 125,963,004 (GRCm39) splice site probably benign
IGL02095:Fam227b APN 2 125,942,924 (GRCm39) missense probably damaging 0.97
IGL02352:Fam227b APN 2 125,988,174 (GRCm39) unclassified probably benign
IGL02359:Fam227b APN 2 125,988,174 (GRCm39) unclassified probably benign
IGL02506:Fam227b APN 2 125,845,831 (GRCm39) missense probably benign 0.22
IGL02717:Fam227b APN 2 125,845,763 (GRCm39) missense probably null 0.97
IGL02933:Fam227b APN 2 125,965,908 (GRCm39) splice site probably null
IGL03064:Fam227b APN 2 125,968,762 (GRCm39) splice site probably null
IGL03086:Fam227b APN 2 125,960,951 (GRCm39) missense probably benign 0.01
IGL03198:Fam227b APN 2 125,966,499 (GRCm39) critical splice donor site probably null
IGL03256:Fam227b APN 2 125,830,923 (GRCm39) missense probably damaging 0.99
dana UTSW 2 125,958,043 (GRCm39) missense probably damaging 1.00
R0071:Fam227b UTSW 2 125,965,994 (GRCm39) missense probably benign 0.04
R0071:Fam227b UTSW 2 125,965,994 (GRCm39) missense probably benign 0.04
R0110:Fam227b UTSW 2 125,942,841 (GRCm39) missense probably damaging 1.00
R0140:Fam227b UTSW 2 125,966,523 (GRCm39) missense possibly damaging 0.53
R0377:Fam227b UTSW 2 125,966,920 (GRCm39) splice site probably benign
R0499:Fam227b UTSW 2 125,942,829 (GRCm39) missense probably benign 0.25
R1240:Fam227b UTSW 2 125,966,505 (GRCm39) missense possibly damaging 0.56
R1356:Fam227b UTSW 2 125,960,928 (GRCm39) missense probably damaging 1.00
R1404:Fam227b UTSW 2 125,845,759 (GRCm39) missense probably damaging 0.99
R1404:Fam227b UTSW 2 125,845,759 (GRCm39) missense probably damaging 0.99
R2055:Fam227b UTSW 2 125,942,874 (GRCm39) missense probably benign 0.13
R2884:Fam227b UTSW 2 125,942,846 (GRCm39) missense probably benign 0.01
R3124:Fam227b UTSW 2 125,966,006 (GRCm39) missense probably benign 0.36
R3125:Fam227b UTSW 2 125,966,006 (GRCm39) missense probably benign 0.36
R3937:Fam227b UTSW 2 125,968,980 (GRCm39) missense probably benign 0.01
R4408:Fam227b UTSW 2 125,958,045 (GRCm39) missense possibly damaging 0.47
R4454:Fam227b UTSW 2 125,988,188 (GRCm39) unclassified probably benign
R4455:Fam227b UTSW 2 125,988,188 (GRCm39) unclassified probably benign
R4457:Fam227b UTSW 2 125,988,188 (GRCm39) unclassified probably benign
R4558:Fam227b UTSW 2 125,968,963 (GRCm39) missense probably benign 0.00
R4661:Fam227b UTSW 2 125,849,230 (GRCm39) missense probably damaging 0.99
R4809:Fam227b UTSW 2 125,958,045 (GRCm39) missense possibly damaging 0.47
R4810:Fam227b UTSW 2 125,829,859 (GRCm39) missense probably benign 0.01
R4989:Fam227b UTSW 2 125,958,043 (GRCm39) missense probably damaging 1.00
R5011:Fam227b UTSW 2 125,958,043 (GRCm39) missense probably damaging 1.00
R5013:Fam227b UTSW 2 125,958,043 (GRCm39) missense probably damaging 1.00
R5014:Fam227b UTSW 2 125,958,043 (GRCm39) missense probably damaging 1.00
R5133:Fam227b UTSW 2 125,958,043 (GRCm39) missense probably damaging 1.00
R5184:Fam227b UTSW 2 125,958,043 (GRCm39) missense probably damaging 1.00
R5431:Fam227b UTSW 2 125,968,851 (GRCm39) missense probably benign 0.09
R5797:Fam227b UTSW 2 125,849,254 (GRCm39) missense probably benign
R6056:Fam227b UTSW 2 125,962,972 (GRCm39) missense probably damaging 1.00
R6218:Fam227b UTSW 2 125,968,882 (GRCm39) missense probably damaging 1.00
R6471:Fam227b UTSW 2 125,962,985 (GRCm39) missense probably damaging 1.00
R6660:Fam227b UTSW 2 125,986,227 (GRCm39) missense probably damaging 1.00
R6734:Fam227b UTSW 2 125,968,896 (GRCm39) nonsense probably null
R7136:Fam227b UTSW 2 125,965,948 (GRCm39) missense probably damaging 0.99
R7410:Fam227b UTSW 2 125,960,983 (GRCm39) missense probably damaging 1.00
R8417:Fam227b UTSW 2 125,962,982 (GRCm39) missense probably damaging 1.00
R8679:Fam227b UTSW 2 125,830,928 (GRCm39) missense probably benign 0.02
R8731:Fam227b UTSW 2 125,968,898 (GRCm39) missense possibly damaging 0.95
R8986:Fam227b UTSW 2 125,958,019 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02