Incidental Mutation 'IGL01819:Phf11c'
ID154463
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 #IGL01819
Quality Score
Status
Chromosome14
Chromosomal Location59380833-59395381 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 59393137 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 40 (T40A)
Ref Sequence ENSEMBL: ENSMUSP00000131536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166912]
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
0610010F05Rik A G 11: 23,584,561 S105P probably benign Het
Adora2b A G 11: 62,265,184 N153S possibly damaging Het
Afm C T 5: 90,524,906 T200I probably benign Het
Cyp2c67 T C 19: 39,615,721 D397G probably damaging Het
Dnah9 A G 11: 66,108,126 V1032A probably benign Het
Elovl7 T G 13: 108,274,320 V143G probably damaging Het
Fhl4 T C 10: 85,098,870 K16E probably damaging Het
Golga1 C T 2: 39,034,149 C383Y probably benign Het
Gucy1a2 C T 9: 3,865,409 R628* probably null Het
Hectd4 A G 5: 121,328,418 D2432G possibly damaging Het
Iqcf5 T A 9: 106,515,990 *149R probably null Het
Kcnab1 T A 3: 65,319,454 Y185N probably damaging Het
Lars G T 18: 42,202,550 T1167K probably benign Het
Mib2 A T 4: 155,655,258 probably null Het
Mrps2 T C 2: 28,468,336 V46A probably benign Het
Myo18b T C 5: 112,878,050 T45A unknown Het
Myo1e C T 9: 70,343,040 probably benign Het
Olfr1129 A G 2: 87,575,479 I132V probably damaging Het
Olfr1285 T A 2: 111,408,733 V106E probably damaging Het
Osbp2 A T 11: 3,717,127 I8N probably damaging Het
Pcdhb22 A T 18: 37,519,921 N481Y probably damaging Het
Pde3a T C 6: 141,487,537 W765R probably damaging Het
Pih1d2 T A 9: 50,621,877 S268R probably benign Het
Pkd1l2 T C 8: 116,998,174 N2333D probably damaging Het
Prex1 A G 2: 166,621,245 I62T probably damaging Het
Ptcd2 T C 13: 99,326,711 N245S possibly damaging Het
Ripor3 C A 2: 167,980,843 V933F probably damaging Het
Sphk2 A G 7: 45,711,056 probably null Het
Tfcp2 T G 15: 100,504,439 E492D probably benign Het
Ttn C T 2: 76,798,762 V14411I possibly damaging Het
Utp20 T C 10: 88,792,687 Q915R probably damaging Het
Vmn2r45 C A 7: 8,485,557 S158I probably benign Het
Other mutations in Phf11c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01073:Phf11c APN 14 59389348 missense probably benign 0.07
IGL01080:Phf11c APN 14 59393199 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 On2014-02-04