Incidental Mutation 'IGL01434:Phf12'
ID84268
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phf12
Ensembl Gene ENSMUSG00000037791
Gene NamePHD finger protein 12
Synonyms2410142K10Rik, PF1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.609) question?
Stock #IGL01434
Quality Score
Status
Chromosome11
Chromosomal Location77982754-78030539 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 78023559 bp
ZygosityHeterozygous
Amino Acid Change Proline to Leucine at position 60 (P60L)
Ref Sequence ENSEMBL: ENSMUSP00000119390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049167] [ENSMUST00000108360] [ENSMUST00000131680] [ENSMUST00000153428]
Predicted Effect possibly damaging
Transcript: ENSMUST00000049167
AA Change: P609L

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000044990
Gene: ENSMUSG00000037791
AA Change: P609L

DomainStartEndE-ValueType
low complexity region 37 52 N/A INTRINSIC
PHD 58 103 7.23e-11 SMART
low complexity region 182 200 N/A INTRINSIC
Pfam:PHF12_MRG_bd 202 241 1.3e-21 PFAM
PHD 273 319 1.66e-10 SMART
low complexity region 616 630 N/A INTRINSIC
Blast:FHA 813 868 9e-34 BLAST
low complexity region 905 916 N/A INTRINSIC
low complexity region 927 939 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108360
AA Change: P609L

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103997
Gene: ENSMUSG00000037791
AA Change: P609L

DomainStartEndE-ValueType
low complexity region 37 52 N/A INTRINSIC
PHD 58 103 7.23e-11 SMART
low complexity region 182 200 N/A INTRINSIC
PDB:2L9S|A 201 241 2e-20 PDB
PHD 273 319 1.66e-10 SMART
low complexity region 616 630 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123662
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125079
Predicted Effect probably benign
Transcript: ENSMUST00000131680
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141620
Predicted Effect probably damaging
Transcript: ENSMUST00000153428
AA Change: P60L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119390
Gene: ENSMUSG00000037791
AA Change: P60L

DomainStartEndE-ValueType
low complexity region 67 81 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000153747
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 A G 7: 119,781,074 probably benign Het
Adcy7 A G 8: 88,324,844 N864S probably damaging Het
Anapc7 A G 5: 122,438,216 D302G probably benign Het
Atm A T 9: 53,507,807 C782S probably benign Het
Bicdl1 G A 5: 115,670,156 Q37* probably null Het
Cabin1 T C 10: 75,725,586 D1027G possibly damaging Het
Cbl T C 9: 44,164,206 I364V probably damaging Het
Ccer1 T C 10: 97,693,597 S41P unknown Het
Cenpf G A 1: 189,657,868 Q1256* probably null Het
Copa T A 1: 172,119,561 I1093N probably benign Het
Cped1 C T 6: 22,017,005 L118F probably damaging Het
Dner T C 1: 84,384,010 H626R probably benign Het
Ears2 G A 7: 122,063,088 probably benign Het
Eif3c A G 7: 126,556,410 I562T probably damaging Het
Eml6 T C 11: 29,819,090 Y685C probably damaging Het
Fam71f1 T C 6: 29,320,701 V108A probably damaging Het
Gm5483 T A 16: 36,186,407 V37E probably benign Het
Gpt A G 15: 76,698,782 K321E probably damaging Het
Hspd1 C T 1: 55,081,126 G306R probably damaging Het
Kmt2c T C 5: 25,409,308 Y138C probably damaging Het
Lhcgr A G 17: 88,742,437 Y554H probably damaging Het
Nell1 A T 7: 50,701,208 K534N probably benign Het
Nob1 A G 8: 107,424,728 probably benign Het
Olfr45 G A 7: 140,691,618 A238T probably damaging Het
Prkdc A G 16: 15,713,587 E1358G probably benign Het
Rimbp3 A G 16: 17,211,702 T997A probably benign Het
Rsg1 T C 4: 141,218,653 V169A probably benign Het
Slc9a9 T A 9: 95,019,194 N393K possibly damaging Het
Sohlh2 T C 3: 55,195,161 S206P probably damaging Het
Stard10 G A 7: 101,321,980 V125M probably benign Het
Tff2 G T 17: 31,143,266 probably null Het
Tha1 T C 11: 117,868,599 T355A probably benign Het
Tmem120a G T 5: 135,737,010 F127L possibly damaging Het
Tmem41b A G 7: 109,978,702 probably benign Het
Tonsl T C 15: 76,631,102 D1028G probably benign Het
Other mutations in Phf12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00826:Phf12 APN 11 78015506 missense probably damaging 0.98
IGL00919:Phf12 APN 11 77983340 missense probably damaging 1.00
IGL02219:Phf12 APN 11 77984196 missense probably damaging 0.97
IGL02727:Phf12 APN 11 78023667 missense possibly damaging 0.83
IGL03064:Phf12 APN 11 77983360 missense probably damaging 1.00
IGL03117:Phf12 APN 11 78023020 unclassified probably benign
R0457:Phf12 UTSW 11 78018168 missense possibly damaging 0.94
R0477:Phf12 UTSW 11 78023070 missense possibly damaging 0.94
R0656:Phf12 UTSW 11 78029332 missense probably benign 0.44
R0905:Phf12 UTSW 11 78009404 nonsense probably null
R1719:Phf12 UTSW 11 78023601 missense probably damaging 1.00
R1742:Phf12 UTSW 11 78009486 missense probably benign 0.04
R1826:Phf12 UTSW 11 78024954 splice site probably benign
R2270:Phf12 UTSW 11 77984175 missense possibly damaging 0.82
R2875:Phf12 UTSW 11 78009747 missense probably damaging 1.00
R2885:Phf12 UTSW 11 78023769 missense possibly damaging 0.75
R5020:Phf12 UTSW 11 78023796 missense probably damaging 1.00
R5570:Phf12 UTSW 11 78018111 missense possibly damaging 0.89
R5573:Phf12 UTSW 11 78025045 missense probably damaging 1.00
R5689:Phf12 UTSW 11 78023725 missense probably damaging 1.00
R5727:Phf12 UTSW 11 78023544 missense probably damaging 1.00
R5807:Phf12 UTSW 11 78022426 missense probably benign 0.16
R5910:Phf12 UTSW 11 78027398 missense probably damaging 1.00
R6034:Phf12 UTSW 11 78018069 missense probably benign 0.08
R6034:Phf12 UTSW 11 78018069 missense probably benign 0.08
R6049:Phf12 UTSW 11 78028170 unclassified probably null
R6052:Phf12 UTSW 11 78018218 missense probably benign 0.31
R6056:Phf12 UTSW 11 78009515 missense probably benign 0.09
R6208:Phf12 UTSW 11 78023591 missense probably damaging 0.97
R6644:Phf12 UTSW 11 78026092 makesense probably null
R6805:Phf12 UTSW 11 78027373 missense probably damaging 1.00
R6823:Phf12 UTSW 11 78022511 nonsense probably null
R7047:Phf12 UTSW 11 78013273 missense probably damaging 0.99
R7159:Phf12 UTSW 11 78023540 missense possibly damaging 0.76
R7602:Phf12 UTSW 11 78023283 missense probably benign
R7618:Phf12 UTSW 11 78026134 missense unknown
R7929:Phf12 UTSW 11 78009394 splice site probably null
X0013:Phf12 UTSW 11 78009791 missense probably damaging 1.00
X0027:Phf12 UTSW 11 78028895 unclassified probably null
Posted On2013-11-11