Incidental Mutation 'IGL01080:Phf11c'
ID 52660
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 # IGL01080
Quality Score
Status
Chromosome 14
Chromosomal Location 59618282-59630961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 59630648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 19 (T19I)
Ref Sequence ENSEMBL: ENSMUSP00000131536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166912]
AlphaFold B4XVP9
Predicted Effect probably benign
Transcript: ENSMUST00000166912
AA Change: T19I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000131536
Gene: ENSMUSG00000091144
AA Change: T19I

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,984,258 (GRCm39) R663W probably damaging Het
Cacng5 A T 11: 107,768,754 (GRCm39) F179L probably damaging Het
Cacng5 C T 11: 107,772,531 (GRCm39) V106I probably benign Het
Cd96 T C 16: 45,870,056 (GRCm39) E471G possibly damaging Het
Cpt1c T C 7: 44,610,333 (GRCm39) D621G probably damaging Het
Csmd3 T C 15: 47,744,799 (GRCm39) I1503V probably benign Het
Dmgdh T C 13: 93,840,286 (GRCm39) probably benign Het
Flg A T 3: 93,186,906 (GRCm39) K119N probably benign Het
Gale T C 4: 135,693,389 (GRCm39) Y104H probably damaging Het
Gm8005 T C 14: 42,258,971 (GRCm39) D119G unknown Het
Gstk1 A T 6: 42,223,560 (GRCm39) D50V possibly damaging Het
Kmt2a T C 9: 44,720,389 (GRCm39) D3866G unknown Het
Mastl A G 2: 23,036,160 (GRCm39) S119P probably damaging Het
Or2aj4 A T 16: 19,384,958 (GRCm39) V225E probably damaging Het
Ppp1r16b A G 2: 158,599,092 (GRCm39) T355A probably damaging Het
Prmt7 T G 8: 106,963,846 (GRCm39) probably benign Het
Rad50 T C 11: 53,596,895 (GRCm39) T44A probably damaging Het
Rangap1 C T 15: 81,589,953 (GRCm39) probably benign Het
Slc27a3 A T 3: 90,292,767 (GRCm39) V634E probably benign Het
Tbxas1 T A 6: 38,998,115 (GRCm39) L228I probably damaging Het
Tnfaip3 T C 10: 18,887,403 (GRCm39) K41E probably benign Het
Tti1 C T 2: 157,824,379 (GRCm39) V1025I probably damaging Het
Tyrobp T C 7: 30,116,841 (GRCm39) probably null Het
Wfdc16 A T 2: 164,480,406 (GRCm39) W30R probably damaging Het
Zyg11b A T 4: 108,094,613 (GRCm39) L657Q probably damaging Het
Other mutations in Phf11c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01073:Phf11c APN 14 59,626,797 (GRCm39) missense probably benign 0.07
IGL01819:Phf11c APN 14 59,630,586 (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 2013-06-21