Incidental Mutation 'IGL00560:Phf11b'
ID 12638
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phf11b
Ensembl Gene ENSMUSG00000091649
Gene Name PHD finger protein 11B
Synonyms Gm4902
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # IGL00560
Quality Score
Status
Chromosome 14
Chromosomal Location 59558413-59578800 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59562324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 194 (S194P)
Ref Sequence ENSEMBL: ENSMUSP00000127857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166121]
AlphaFold B4XVQ1
Predicted Effect probably damaging
Transcript: ENSMUST00000166121
AA Change: S194P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127857
Gene: ENSMUSG00000091649
AA Change: S194P

DomainStartEndE-ValueType
PHD 92 143 1.55e-1 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 6 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdh6 A C 15: 13,034,445 (GRCm39) Y738* probably null Het
Hira T A 16: 18,765,090 (GRCm39) probably benign Het
Tspan1 G T 4: 116,020,176 (GRCm39) probably benign Het
Ttn T C 2: 76,560,573 (GRCm39) D20949G probably damaging Het
Uhrf1 G A 17: 56,625,125 (GRCm39) G556D probably damaging Het
Utrn A T 10: 12,331,211 (GRCm39) C434* probably null Het
Other mutations in Phf11b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01116:Phf11b APN 14 59,560,631 (GRCm39) missense probably benign 0.02
IGL01446:Phf11b APN 14 59,578,740 (GRCm39) missense probably benign 0.02
IGL02224:Phf11b APN 14 59,563,515 (GRCm39) splice site probably benign
IGL03062:Phf11b APN 14 59,562,373 (GRCm39) missense probably damaging 1.00
PIT4131001:Phf11b UTSW 14 59,560,611 (GRCm39) splice site probably benign
R1795:Phf11b UTSW 14 59,565,554 (GRCm39) missense probably benign 0.00
R3774:Phf11b UTSW 14 59,563,506 (GRCm39) missense probably benign 0.45
R4553:Phf11b UTSW 14 59,578,734 (GRCm39) missense probably benign 0.10
R5460:Phf11b UTSW 14 59,568,713 (GRCm39) missense probably benign 0.01
R5620:Phf11b UTSW 14 59,558,953 (GRCm39) missense probably benign 0.01
R5985:Phf11b UTSW 14 59,559,027 (GRCm39) missense possibly damaging 0.52
R5990:Phf11b UTSW 14 59,562,375 (GRCm39) missense possibly damaging 0.57
R6775:Phf11b UTSW 14 59,576,094 (GRCm39) missense probably benign 0.14
R6836:Phf11b UTSW 14 59,565,572 (GRCm39) missense possibly damaging 0.81
R7197:Phf11b UTSW 14 59,563,507 (GRCm39) missense probably benign 0.06
R7953:Phf11b UTSW 14 59,568,722 (GRCm39) missense probably benign 0.35
R8043:Phf11b UTSW 14 59,568,722 (GRCm39) missense probably benign 0.35
R8229:Phf11b UTSW 14 59,568,730 (GRCm39) missense probably damaging 1.00
R8319:Phf11b UTSW 14 59,576,146 (GRCm39) missense probably damaging 1.00
R9585:Phf11b UTSW 14 59,568,704 (GRCm39) missense probably benign 0.02
Posted On 2012-12-06