Incidental Mutation 'IGL03213:Phf11d'
ID 413362
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phf11d
Ensembl Gene ENSMUSG00000068245
Gene Name PHD finger protein 11D
Synonyms D14Ertd668e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # IGL03213
Quality Score
Status
Chromosome 14
Chromosomal Location 59584856-59602919 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 59586797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 210 (R210S)
Ref Sequence ENSEMBL: ENSMUSP00000124578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095157] [ENSMUST00000160425] [ENSMUST00000161031]
AlphaFold A6H5X4
Predicted Effect probably benign
Transcript: ENSMUST00000095157
AA Change: R278S

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000092779
Gene: ENSMUSG00000068245
AA Change: R278S

DomainStartEndE-ValueType
PHD 92 143 3.03e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160425
AA Change: R210S

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124578
Gene: ENSMUSG00000068245
AA Change: R210S

DomainStartEndE-ValueType
PHD 92 143 3.03e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161031
AA Change: R278S

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000125181
Gene: ENSMUSG00000068245
AA Change: R278S

DomainStartEndE-ValueType
PHD 92 143 3.03e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161754
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU mutated allele exhibit a change in the expression levels of immune response gene after LPS exposure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 A T 2: 22,831,971 (GRCm39) D447E probably damaging Het
Aldh8a1 T C 10: 21,260,616 (GRCm39) V175A probably damaging Het
Aoc1l3 A G 6: 48,965,279 (GRCm39) D429G possibly damaging Het
Arap2 T A 5: 62,906,438 (GRCm39) T194S probably benign Het
Arih2 T C 9: 108,484,546 (GRCm39) T422A probably damaging Het
Arl5b T A 2: 15,074,676 (GRCm39) N52K probably damaging Het
Atg13 G A 2: 91,515,512 (GRCm39) H227Y probably damaging Het
Ccdc178 T C 18: 22,253,748 (GRCm39) T164A possibly damaging Het
Cep192 T C 18: 67,998,708 (GRCm39) V2074A probably damaging Het
Ces2c T C 8: 105,574,672 (GRCm39) I43T probably benign Het
Chrm3 G A 13: 9,928,220 (GRCm39) T272I probably benign Het
Cln8 A G 8: 14,944,845 (GRCm39) Y53C probably damaging Het
Cwc27 T A 13: 104,932,911 (GRCm39) probably benign Het
Cyp3a13 A T 5: 137,892,529 (GRCm39) probably benign Het
Dchs1 G T 7: 105,404,279 (GRCm39) N2754K probably damaging Het
Dclk1 A T 3: 55,387,805 (GRCm39) K84* probably null Het
Ednra T C 8: 78,446,848 (GRCm39) T77A probably benign Het
Epn2 T C 11: 61,410,510 (GRCm39) N553D probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gm10784 T A 13: 50,099,310 (GRCm39) noncoding transcript Het
Gtf2e2 T C 8: 34,242,525 (GRCm39) F76L probably damaging Het
Hnrnpll A T 17: 80,341,527 (GRCm39) V504E probably damaging Het
Ifitm2 A G 7: 140,535,677 (GRCm39) V51A possibly damaging Het
Il16 C T 7: 83,295,708 (GRCm39) E456K probably damaging Het
Lmod2 A T 6: 24,603,615 (GRCm39) I197F possibly damaging Het
Lrrc14 T C 15: 76,597,983 (GRCm39) S238P possibly damaging Het
Map3k1 A G 13: 111,885,426 (GRCm39) probably benign Het
Pigu T C 2: 155,177,291 (GRCm39) N103S probably damaging Het
Rgsl1 A G 1: 153,701,587 (GRCm39) V289A probably benign Het
Rp1l1 T A 14: 64,265,864 (GRCm39) S483R probably damaging Het
Ryr2 A T 13: 11,739,273 (GRCm39) probably benign Het
Sema3c T G 5: 17,899,637 (GRCm39) probably benign Het
Septin4 G T 11: 87,458,184 (GRCm39) probably null Het
Sfmbt2 A G 2: 10,409,385 (GRCm39) Y110C probably damaging Het
Slc12a3 T C 8: 95,061,933 (GRCm39) V328A possibly damaging Het
Smarca2 G A 19: 26,601,375 (GRCm39) G31D probably damaging Het
Spmip1 G A 6: 29,471,792 (GRCm39) M89I probably damaging Het
Tenm2 T G 11: 35,914,157 (GRCm39) E2460A probably benign Het
Trim58 T A 11: 58,541,993 (GRCm39) W318R probably benign Het
Ube3a C T 7: 58,935,870 (GRCm39) Q585* probably null Het
Vmn2r17 T C 5: 109,582,256 (GRCm39) probably null Het
Zfp647 A G 15: 76,796,177 (GRCm39) V161A possibly damaging Het
Other mutations in Phf11d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02808:Phf11d APN 14 59,586,739 (GRCm39) missense probably damaging 1.00
IGL03386:Phf11d APN 14 59,599,309 (GRCm39) splice site probably benign
R0194:Phf11d UTSW 14 59,590,180 (GRCm39) missense probably damaging 1.00
R0373:Phf11d UTSW 14 59,590,793 (GRCm39) missense possibly damaging 0.67
R0845:Phf11d UTSW 14 59,590,793 (GRCm39) missense possibly damaging 0.67
R1822:Phf11d UTSW 14 59,593,778 (GRCm39) missense probably benign 0.00
R4716:Phf11d UTSW 14 59,590,791 (GRCm39) missense probably benign 0.13
R5122:Phf11d UTSW 14 59,590,793 (GRCm39) missense possibly damaging 0.67
R5257:Phf11d UTSW 14 59,590,160 (GRCm39) missense possibly damaging 0.92
R5375:Phf11d UTSW 14 59,590,120 (GRCm39) missense probably null 0.14
R5919:Phf11d UTSW 14 59,593,712 (GRCm39) intron probably benign
R6008:Phf11d UTSW 14 59,602,898 (GRCm39) unclassified probably benign
R6809:Phf11d UTSW 14 59,593,844 (GRCm39) missense probably damaging 1.00
R7006:Phf11d UTSW 14 59,590,823 (GRCm39) missense probably benign 0.09
R7404:Phf11d UTSW 14 59,596,942 (GRCm39) missense probably benign 0.00
R7860:Phf11d UTSW 14 59,599,280 (GRCm39) missense probably damaging 1.00
R7887:Phf11d UTSW 14 59,597,029 (GRCm39) missense probably damaging 1.00
R8411:Phf11d UTSW 14 59,593,883 (GRCm39) missense probably benign 0.07
R9138:Phf11d UTSW 14 59,602,833 (GRCm39) missense probably benign 0.34
Posted On 2016-08-02