Incidental Mutation 'IGL00970:Fam227b'
ID26999
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam227b
Ensembl Gene ENSMUSG00000027209
Gene Namefamily with sequence similarity 227, member B
Synonyms4930525F21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL00970
Quality Score
Status
Chromosome2
Chromosomal Location125983483-126152004 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 126127060 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 31 (D31E)
Ref Sequence ENSEMBL: ENSMUSP00000136349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110446] [ENSMUST00000110448] [ENSMUST00000178118]
Predicted Effect probably benign
Transcript: ENSMUST00000110446
AA Change: D31E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000106076
Gene: ENSMUSG00000027209
AA Change: D31E

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 benign
Transcript: ENSMUST00000110448
AA Change: D31E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000106078
Gene: ENSMUSG00000027209
AA Change: D31E

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 benign
Transcript: ENSMUST00000178118
AA Change: D31E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000136349
Gene: ENSMUSG00000027209
AA Change: D31E

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
Meta Mutation Damage Score 0.1276 question?
Coding Region Coverage
Validation Efficiency
MGI Phenotype Mice homozygous for a knock-out allele exhibit abnormal coat appearance, abnormal kidney morphology, spleen hypoplasia, decreased vesicles clustering in GABAergic synapses, decreased miniature inhibitory postsynaptic currents, and increased susceptibility to drug-induced seizures.,NO_PHENOTYPE
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833427G06Rik T A 9: 51,083,586 K148* probably null Het
Adamts19 T A 18: 59,011,077 N910K possibly damaging Het
Atp8b5 A G 4: 43,311,938 T184A probably benign Het
Cabp7 T C 11: 4,738,931 I180V probably benign Het
Casp8ap2 A G 4: 32,646,182 T1752A probably benign Het
Dgkb T C 12: 38,190,083 L453P probably damaging Het
Disp2 A C 2: 118,791,793 D1002A probably damaging Het
Eif3c G A 7: 126,559,008 P259S probably benign Het
Farp2 T C 1: 93,560,327 V92A probably benign Het
Fhod1 C A 8: 105,332,102 V745L possibly damaging Het
Gm8994 A G 6: 136,329,111 D169G probably damaging Het
Gprin3 T C 6: 59,353,837 E495G possibly damaging Het
Grm5 T C 7: 87,803,896 I247T probably damaging Het
Herc2 T C 7: 56,181,064 probably benign Het
Hspg2 C A 4: 137,542,590 Q2311K probably benign Het
Krt26 T C 11: 99,331,281 Y400C probably benign Het
Lct A T 1: 128,304,068 D681E probably damaging Het
Lgalsl G T 11: 20,826,493 P133Q probably benign Het
Man2b2 C T 5: 36,816,143 W76* probably null Het
Mylk4 T C 13: 32,715,922 E326G probably damaging Het
Odam T G 5: 87,886,608 probably benign Het
Pabpc4 T C 4: 123,286,815 I110T probably damaging Het
Pcdh15 A T 10: 74,379,340 D47V probably damaging Het
Plekhg4 C T 8: 105,378,435 R577C probably benign Het
Pnpo C A 11: 96,943,792 C26F possibly damaging Het
Polg T C 7: 79,451,745 I1071M probably benign Het
Prr23a2 A G 9: 98,856,961 D124G probably benign Het
Rexo1 C T 10: 80,550,964 V87I probably damaging Het
Robo2 C A 16: 73,897,046 V1502L probably benign Het
Ruvbl2 A G 7: 45,429,570 L50P possibly damaging Het
Ryr3 T C 2: 112,764,676 K2534E probably damaging Het
Scfd2 T C 5: 74,530,934 H229R possibly damaging Het
Sesn3 A G 9: 14,321,142 D237G probably damaging Het
Shank1 T C 7: 44,354,238 S1785P possibly damaging Het
Slc11a1 A G 1: 74,380,662 T165A probably damaging Het
Star G A 8: 25,812,866 probably null Het
Trpc6 A T 9: 8,653,151 N575Y probably damaging Het
Unc5d T C 8: 28,696,428 T598A probably benign Het
Vmn1r200 A T 13: 22,395,723 Q232L probably damaging Het
Wdr31 T C 4: 62,457,520 T233A probably damaging Het
Zzef1 G A 11: 72,915,245 R2669Q probably benign Het
Other mutations in Fam227b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Fam227b APN 2 126144325 critical splice acceptor site probably null
IGL02040:Fam227b APN 2 126121084 splice site probably benign
IGL02095:Fam227b APN 2 126101004 missense probably damaging 0.97
IGL02352:Fam227b APN 2 126146254 unclassified probably benign
IGL02359:Fam227b APN 2 126146254 unclassified probably benign
IGL02506:Fam227b APN 2 126003911 missense probably benign 0.22
IGL02717:Fam227b APN 2 126003843 missense probably null 0.97
IGL02933:Fam227b APN 2 126123988 splice site probably null
IGL03064:Fam227b APN 2 126126842 splice site probably null
IGL03086:Fam227b APN 2 126119031 missense probably benign 0.01
IGL03198:Fam227b APN 2 126124579 critical splice donor site probably null
IGL03256:Fam227b APN 2 125989003 missense probably damaging 0.99
IGL03368:Fam227b APN 2 126119063 missense probably damaging 1.00
dana UTSW 2 126116123 missense probably damaging 1.00
R0071:Fam227b UTSW 2 126124074 missense probably benign 0.04
R0071:Fam227b UTSW 2 126124074 missense probably benign 0.04
R0110:Fam227b UTSW 2 126100921 missense probably damaging 1.00
R0140:Fam227b UTSW 2 126124603 missense possibly damaging 0.53
R0377:Fam227b UTSW 2 126125000 splice site probably benign
R0499:Fam227b UTSW 2 126100909 missense probably benign 0.25
R1240:Fam227b UTSW 2 126124585 missense possibly damaging 0.56
R1356:Fam227b UTSW 2 126119008 missense probably damaging 1.00
R1404:Fam227b UTSW 2 126003839 missense probably damaging 0.99
R1404:Fam227b UTSW 2 126003839 missense probably damaging 0.99
R2055:Fam227b UTSW 2 126100954 missense probably benign 0.13
R2884:Fam227b UTSW 2 126100926 missense probably benign 0.01
R3124:Fam227b UTSW 2 126124086 missense probably benign 0.36
R3125:Fam227b UTSW 2 126124086 missense probably benign 0.36
R3937:Fam227b UTSW 2 126127060 missense probably benign 0.01
R4408:Fam227b UTSW 2 126116125 missense possibly damaging 0.47
R4454:Fam227b UTSW 2 126146268 unclassified probably benign
R4455:Fam227b UTSW 2 126146268 unclassified probably benign
R4457:Fam227b UTSW 2 126146268 unclassified probably benign
R4558:Fam227b UTSW 2 126127043 missense probably benign 0.00
R4661:Fam227b UTSW 2 126007310 missense probably damaging 0.99
R4809:Fam227b UTSW 2 126116125 missense possibly damaging 0.47
R4810:Fam227b UTSW 2 125987939 missense probably benign 0.01
R4989:Fam227b UTSW 2 126116123 missense probably damaging 1.00
R5011:Fam227b UTSW 2 126116123 missense probably damaging 1.00
R5013:Fam227b UTSW 2 126116123 missense probably damaging 1.00
R5014:Fam227b UTSW 2 126116123 missense probably damaging 1.00
R5133:Fam227b UTSW 2 126116123 missense probably damaging 1.00
R5184:Fam227b UTSW 2 126116123 missense probably damaging 1.00
R5431:Fam227b UTSW 2 126126931 missense probably benign 0.09
R5797:Fam227b UTSW 2 126007334 missense probably benign
R6056:Fam227b UTSW 2 126121052 missense probably damaging 1.00
R6218:Fam227b UTSW 2 126126962 missense probably damaging 1.00
R6471:Fam227b UTSW 2 126121065 missense probably damaging 1.00
R6660:Fam227b UTSW 2 126144307 missense probably damaging 1.00
R6734:Fam227b UTSW 2 126126976 nonsense probably null
R7136:Fam227b UTSW 2 126124028 missense probably damaging 0.99
R7410:Fam227b UTSW 2 126119063 missense probably damaging 1.00
Posted On2013-04-17