Incidental Mutation 'IGL03064:Fam227b'
ID 409624
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: 0.072) question?
Stock # IGL03064
Quality Score
Status
Chromosome 2
Chromosomal Location 125825403-125993924 bp(-) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) T to C at 125968762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110446] [ENSMUST00000110446] [ENSMUST00000110448] [ENSMUST00000110448] [ENSMUST00000178118] [ENSMUST00000178118]
AlphaFold Q9D518
Predicted Effect probably null
Transcript: ENSMUST00000110446
SMART Domains Protein: ENSMUSP00000106076
Gene: ENSMUSG00000027209

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 null
Transcript: ENSMUST00000110446
SMART Domains Protein: ENSMUSP00000106076
Gene: ENSMUSG00000027209

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 null
Transcript: ENSMUST00000110448
SMART Domains Protein: ENSMUSP00000106078
Gene: ENSMUSG00000027209

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 probably null
Transcript: ENSMUST00000110448
SMART Domains Protein: ENSMUSP00000106078
Gene: ENSMUSG00000027209

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 null
Transcript: ENSMUST00000178118
SMART Domains Protein: ENSMUSP00000136349
Gene: ENSMUSG00000027209

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
Predicted Effect probably null
Transcript: ENSMUST00000178118
SMART Domains Protein: ENSMUSP00000136349
Gene: ENSMUSG00000027209

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 A G 7: 119,174,864 (GRCm39) T210A probably damaging Het
Adgb T A 10: 10,276,316 (GRCm39) T351S probably benign Het
Akap9 A G 5: 4,018,755 (GRCm39) H1112R probably damaging Het
Angptl6 A T 9: 20,786,939 (GRCm39) Y261* probably null Het
Arhgef10l A C 4: 140,306,590 (GRCm39) F395V probably damaging Het
Bub1 T C 2: 127,659,373 (GRCm39) N328S probably benign Het
Cacna1s A G 1: 136,039,731 (GRCm39) N1186D probably damaging Het
Cacna2d2 C A 9: 107,386,474 (GRCm39) F200L probably damaging Het
Calca G A 7: 114,232,919 (GRCm39) S110L probably benign Het
Ccdc120 G A X: 7,601,601 (GRCm39) P263S probably benign Het
Dcaf8l A G X: 88,448,857 (GRCm39) V424A possibly damaging Het
Dgki C A 6: 37,126,599 (GRCm39) probably benign Het
Ear1 G T 14: 44,056,502 (GRCm39) S122* probably null Het
F5 A T 1: 164,023,163 (GRCm39) T1574S probably benign Het
Gm20521 T A 14: 55,134,680 (GRCm39) S301T possibly damaging Het
Hsd17b7 A T 1: 169,787,287 (GRCm39) I239N probably benign Het
Itih1 C A 14: 30,663,514 (GRCm39) E163D probably benign Het
Lama1 A T 17: 68,086,099 (GRCm39) Y1446F probably benign Het
Lama3 C T 18: 12,572,406 (GRCm39) T537M possibly damaging Het
Lars1 G T 18: 42,354,636 (GRCm39) Y770* probably null Het
Lrp2 A T 2: 69,313,477 (GRCm39) V2418E probably damaging Het
Maip1 A G 1: 57,446,359 (GRCm39) E143G probably damaging Het
Mast4 G T 13: 102,897,472 (GRCm39) S739* probably null Het
Mctp1 C T 13: 76,949,632 (GRCm39) Q555* probably null Het
Med14 A T X: 12,613,742 (GRCm39) D291E probably benign Het
Mgat2 T A 12: 69,231,777 (GRCm39) V117D probably damaging Het
Mllt1 A T 17: 57,207,094 (GRCm39) M250K probably benign Het
Myt1 A C 2: 181,439,594 (GRCm39) Y372S probably benign Het
Naa16 T A 14: 79,577,068 (GRCm39) Q735H probably damaging Het
Ncf4 A G 15: 78,135,102 (GRCm39) Y53C probably damaging Het
Nlrp4a A T 7: 26,148,934 (GRCm39) K180N probably benign Het
Nova1 A G 12: 46,746,861 (GRCm39) V472A probably damaging Het
Nup153 T C 13: 46,847,315 (GRCm39) T705A probably benign Het
Odf2 T A 2: 29,791,091 (GRCm39) N79K probably benign Het
Or4f7 A G 2: 111,644,768 (GRCm39) I101T possibly damaging Het
Pard3b G A 1: 62,237,930 (GRCm39) probably benign Het
Pde8b G A 13: 95,182,906 (GRCm39) T388I probably damaging Het
Phactr2 A G 10: 13,264,457 (GRCm39) probably benign Het
Phf12 T C 11: 77,874,186 (GRCm39) S17P probably damaging Het
Psmg2 T A 18: 67,779,102 (GRCm39) L90* probably null Het
Ryr2 T C 13: 11,658,788 (GRCm39) probably null Het
Sec23b T C 2: 144,423,952 (GRCm39) F534L probably benign Het
Sin3b A G 8: 73,483,686 (GRCm39) probably benign Het
Slc30a5 A T 13: 100,947,818 (GRCm39) L463Q probably damaging Het
Slc35g3 T C 11: 69,651,895 (GRCm39) H52R possibly damaging Het
Slc6a3 G T 13: 73,719,585 (GRCm39) S538I probably damaging Het
Socs2 G T 10: 95,248,713 (GRCm39) C133* probably null Het
Srebf2 G A 15: 82,076,423 (GRCm39) R691H probably benign Het
Tlr11 C A 14: 50,598,557 (GRCm39) P181Q probably damaging Het
Tlr7 T A X: 166,089,203 (GRCm39) Q761L possibly damaging Het
Tmem120b T A 5: 123,240,336 (GRCm39) Y90N possibly damaging Het
Tpcn1 T C 5: 120,675,631 (GRCm39) I778V possibly damaging Het
Ttll8 T C 15: 88,803,797 (GRCm39) T385A probably benign Het
Vmn1r223 G A 13: 23,434,153 (GRCm39) R249H probably damaging Het
Vmn2r53 A T 7: 12,334,937 (GRCm39) I241N possibly damaging Het
Wdfy3 T C 5: 102,083,863 (GRCm39) R808G probably damaging Het
Zfyve26 T A 12: 79,308,565 (GRCm39) S231C probably damaging 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
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
IGL03368:Fam227b APN 2 125,960,983 (GRCm39) missense probably damaging 1.00
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