Incidental Mutation 'IGL03256:Fam227b'
ID414638
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 #IGL03256
Quality Score
Status
Chromosome2
Chromosomal Location125983483-126152004 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 125989003 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Isoleucine at position 427 (K427I)
Ref Sequence ENSEMBL: ENSMUSP00000136349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028636] [ENSMUST00000110446] [ENSMUST00000110448] [ENSMUST00000178118]
Predicted Effect probably benign
Transcript: ENSMUST00000028636
SMART Domains Protein: ENSMUSP00000028636
Gene: ENSMUSG00000027207

DomainStartEndE-ValueType
Pfam:GalKase_gal_bdg 13 62 3.8e-26 PFAM
Pfam:GHMP_kinases_N 120 187 1e-15 PFAM
Pfam:GHMP_kinases_C 333 419 6.9e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110446
AA Change: K427I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106076
Gene: ENSMUSG00000027209
AA Change: K427I

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: K427I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106078
Gene: ENSMUSG00000027209
AA Change: K427I

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 damaging
Transcript: ENSMUST00000178118
AA Change: K427I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136349
Gene: ENSMUSG00000027209
AA Change: K427I

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
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik C T 8: 72,445,199 T150I probably benign Het
4932438A13Rik T C 3: 36,906,683 probably benign Het
Adam2 T C 14: 66,053,831 N333D probably benign Het
Aifm3 G A 16: 17,506,310 R578Q probably benign Het
Arid2 C A 15: 96,370,762 Q919K probably benign Het
Atp6v1a T C 16: 44,111,088 probably benign Het
Bicd1 A T 6: 149,513,585 T599S probably benign Het
Catsperg2 T A 7: 29,709,874 R601W probably damaging Het
Clca2 A C 3: 145,086,392 S369R possibly damaging Het
Cyfip1 T G 7: 55,907,434 V795G possibly damaging Het
Ddb1 A G 19: 10,621,861 T544A probably benign Het
Defb43 T C 14: 63,017,880 I54T probably damaging Het
Dera A G 6: 137,779,645 M89V probably benign Het
Frk A G 10: 34,607,842 I400V probably benign Het
Gk5 T A 9: 96,129,053 L72H probably damaging Het
Gprc6a T A 10: 51,628,349 Y133F possibly damaging Het
Hecw1 A G 13: 14,280,484 L662P probably damaging Het
Hecw1 G T 13: 14,280,485 L662M probably benign Het
Il12b T A 11: 44,407,930 S71T probably benign Het
Kdm2a A T 19: 4,345,510 probably benign Het
Lhfp A G 3: 53,043,553 R83G possibly damaging Het
Magel2 C A 7: 62,380,414 T1022K unknown Het
Mycbp2 C A 14: 103,188,589 V2367F possibly damaging Het
Nap1l3 C T X: 122,396,208 G271D probably benign Het
Nars2 T A 7: 97,039,910 D346E possibly damaging Het
Nek11 T A 9: 105,244,414 E435D probably damaging Het
Nfam1 C T 15: 83,010,410 G205R probably benign Het
Olfr1474 T A 19: 13,471,267 M99K probably damaging Het
Olfr395 A T 11: 73,906,696 N265K probably benign Het
Olfr433 T C 1: 174,042,208 L86P probably damaging Het
Otud3 G A 4: 138,909,617 R78W probably damaging Het
Oxct2a C T 4: 123,322,965 A208T probably damaging Het
Pcdh11x A T X: 120,400,910 E683D probably benign Het
Phtf2 C A 5: 20,803,252 V144L probably damaging Het
Pkn2 T C 3: 142,803,550 probably null Het
Puf60 T A 15: 76,070,596 D459V possibly damaging Het
Ralgapa2 A G 2: 146,460,712 probably null Het
Rapgef6 A C 11: 54,657,429 Q813P probably damaging Het
Rsf1 A T 7: 97,679,004 D1071V possibly damaging Het
Sctr T C 1: 120,031,559 probably benign Het
Serpini1 A G 3: 75,619,174 I244M probably benign Het
Tada2a C A 11: 84,087,192 probably benign Het
Tada3 A T 6: 113,375,131 H112Q possibly damaging Het
Tnxb T A 17: 34,688,720 L1246Q probably damaging Het
Txndc16 T C 14: 45,151,896 N449S probably damaging Het
Usp34 T A 11: 23,420,090 Y1771* probably null Het
Vav2 A T 2: 27,271,900 probably null Het
Virma T C 4: 11,542,207 probably benign Het
Vmn1r78 T A 7: 12,152,798 I112N probably damaging Het
Vnn3 A T 10: 23,851,800 probably benign Het
Other mutations in Fam227b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Fam227b APN 2 126144325 critical splice acceptor site probably null
IGL00970:Fam227b APN 2 126127060 missense probably benign 0.01
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
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 On2016-08-02