Incidental Mutation 'IGL01819:Phf11c'
ID 154463
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phf11c
Ensembl Gene ENSMUSG00000091144
Gene Name PHD finger protein 11C
Synonyms Gm6907
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01819
Quality Score
Status
Chromosome 14
Chromosomal Location 59618282-59630961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59630586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 40 (T40A)
Ref Sequence ENSEMBL: ENSMUSP00000131536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166912]
AlphaFold B4XVP9
Predicted Effect probably benign
Transcript: ENSMUST00000166912
AA Change: T40A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000131536
Gene: ENSMUSG00000091144
AA Change: T40A

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora2b A G 11: 62,156,010 (GRCm39) N153S possibly damaging Het
Afm C T 5: 90,672,765 (GRCm39) T200I probably benign Het
Cyp2c67 T C 19: 39,604,165 (GRCm39) D397G probably damaging Het
Dnah9 A G 11: 65,998,952 (GRCm39) V1032A probably benign Het
Elovl7 T G 13: 108,410,854 (GRCm39) V143G probably damaging Het
Fhl4 T C 10: 84,934,734 (GRCm39) K16E probably damaging Het
Golga1 C T 2: 38,924,161 (GRCm39) C383Y probably benign Het
Gucy1a2 C T 9: 3,865,409 (GRCm39) R628* probably null Het
Hectd4 A G 5: 121,466,481 (GRCm39) D2432G possibly damaging Het
Iqcf5 T A 9: 106,393,189 (GRCm39) *149R probably null Het
Kcnab1 T A 3: 65,226,875 (GRCm39) Y185N probably damaging Het
Lars1 G T 18: 42,335,615 (GRCm39) T1167K probably benign Het
Mib2 A T 4: 155,739,715 (GRCm39) probably null Het
Mrps2 T C 2: 28,358,348 (GRCm39) V46A probably benign Het
Myo18b T C 5: 113,025,916 (GRCm39) T45A unknown Het
Myo1e C T 9: 70,250,322 (GRCm39) probably benign Het
Or10ag59 A G 2: 87,405,823 (GRCm39) I132V probably damaging Het
Or4k39 T A 2: 111,239,078 (GRCm39) V106E probably damaging Het
Osbp2 A T 11: 3,667,127 (GRCm39) I8N probably damaging Het
Pcdhb22 A T 18: 37,652,974 (GRCm39) N481Y probably damaging Het
Pde3a T C 6: 141,433,263 (GRCm39) W765R probably damaging Het
Pih1d2 T A 9: 50,533,177 (GRCm39) S268R probably benign Het
Pkd1l2 T C 8: 117,724,913 (GRCm39) N2333D probably damaging Het
Prex1 A G 2: 166,463,165 (GRCm39) I62T probably damaging Het
Ptcd2 T C 13: 99,463,219 (GRCm39) N245S possibly damaging Het
Ripor3 C A 2: 167,822,763 (GRCm39) V933F probably damaging Het
Sanbr A G 11: 23,534,561 (GRCm39) S105P probably benign Het
Sphk2 A G 7: 45,360,480 (GRCm39) probably null Het
Tfcp2 T G 15: 100,402,320 (GRCm39) E492D probably benign Het
Ttn C T 2: 76,629,106 (GRCm39) V14411I possibly damaging Het
Utp20 T C 10: 88,628,549 (GRCm39) Q915R probably damaging Het
Vmn2r45 C A 7: 8,488,556 (GRCm39) S158I probably benign Het
Other mutations in Phf11c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01073:Phf11c APN 14 59,626,797 (GRCm39) missense probably benign 0.07
IGL01080:Phf11c APN 14 59,630,648 (GRCm39) missense probably benign 0.00
IGL02691:Phf11c APN 14 59,622,236 (GRCm39) missense probably damaging 1.00
R0029:Phf11c UTSW 14 59,622,364 (GRCm39) missense probably benign 0.02
R0965:Phf11c UTSW 14 59,618,931 (GRCm39) missense probably damaging 1.00
R3001:Phf11c UTSW 14 59,622,289 (GRCm39) missense probably damaging 1.00
R3002:Phf11c UTSW 14 59,622,289 (GRCm39) missense probably damaging 1.00
R3081:Phf11c UTSW 14 59,618,933 (GRCm39) missense probably benign
R4230:Phf11c UTSW 14 59,630,516 (GRCm39) missense probably benign 0.00
R4432:Phf11c UTSW 14 59,628,384 (GRCm39) missense possibly damaging 0.67
R5649:Phf11c UTSW 14 59,622,981 (GRCm39) critical splice acceptor site probably null
R8981:Phf11c UTSW 14 59,628,412 (GRCm39) missense possibly damaging 0.90
Posted On 2014-02-04