Incidental Mutation 'IGL01073:Phf11c'
ID52657
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phf11c
Ensembl Gene ENSMUSG00000091144
Gene NamePHD finger protein 11C
SynonymsGm6907
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01073
Quality Score
Status
Chromosome14
Chromosomal Location59380833-59395381 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 59389348 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 129 (S129T)
Ref Sequence ENSEMBL: ENSMUSP00000131536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166912]
Predicted Effect probably benign
Transcript: ENSMUST00000166912
AA Change: S129T

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000131536
Gene: ENSMUSG00000091144
AA Change: S129T

DomainStartEndE-ValueType
PHD 112 162 3.25e-4 SMART
low complexity region 178 186 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd24 A G 10: 81,639,322 D110G possibly damaging Het
Ccnd3 A G 17: 47,594,845 T104A probably benign Het
Cntnap5b A T 1: 100,076,030 D245V probably benign Het
Cryab A G 9: 50,754,555 K82R probably damaging Het
Dnmt3b G A 2: 153,670,842 probably benign Het
Eif2b5 A T 16: 20,500,296 K99* probably null Het
Fam222b A G 11: 78,154,488 I292V probably damaging Het
Itpr1 A C 6: 108,413,820 N1560T probably benign Het
Lca5 T A 9: 83,395,475 K605N probably damaging Het
Letm1 T C 5: 33,748,800 D424G possibly damaging Het
Mtif3 C A 5: 146,958,980 R99L probably damaging Het
Nrxn3 A G 12: 89,254,740 M430V probably benign Het
Olfr1226 A T 2: 89,193,137 L299Q possibly damaging Het
Pgap2 T A 7: 102,226,454 probably benign Het
Ptpro A G 6: 137,377,088 N154S probably damaging Het
Rfng C T 11: 120,783,921 R81H probably benign Het
Rnf38 A G 4: 44,137,645 M280T probably benign Het
Rrp7a G A 15: 83,118,081 A185V probably benign Het
Slc22a2 C A 17: 12,584,349 F23L probably benign Het
Slc35f1 A G 10: 53,021,960 T156A probably benign Het
Slfn1 A T 11: 83,121,337 Y93F probably benign Het
Snrnp200 A T 2: 127,214,912 probably benign Het
Sos1 A G 17: 80,422,747 F701S probably damaging Het
Tmem203 A C 2: 25,255,724 I19L probably benign Het
Usp8 A T 2: 126,718,114 K18N probably damaging Het
Vmn2r115 G A 17: 23,345,997 R286K probably benign Het
Vmn2r23 A C 6: 123,712,800 T212P possibly damaging Het
Other mutations in Phf11c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01080:Phf11c APN 14 59393199 missense probably benign 0.00
IGL01819:Phf11c APN 14 59393137 missense probably benign 0.00
IGL02691:Phf11c APN 14 59384787 missense probably damaging 1.00
R0029:Phf11c UTSW 14 59384915 missense probably benign 0.02
R0965:Phf11c UTSW 14 59381482 missense probably damaging 1.00
R3001:Phf11c UTSW 14 59384840 missense probably damaging 1.00
R3002:Phf11c UTSW 14 59384840 missense probably damaging 1.00
R3081:Phf11c UTSW 14 59381484 missense probably benign
R4230:Phf11c UTSW 14 59393067 missense probably benign 0.00
R4432:Phf11c UTSW 14 59390935 missense possibly damaging 0.67
R5649:Phf11c UTSW 14 59385532 critical splice acceptor site probably null
Posted On2013-06-21