Incidental Mutation 'R0477:Phf12'
ID 41864
Institutional Source Beutler Lab
Gene Symbol Phf12
Ensembl Gene ENSMUSG00000037791
Gene Name PHD finger protein 12
Synonyms PF1, 2410142K10Rik
MMRRC Submission 038677-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.704) question?
Stock # R0477 (G1)
Quality Score 200
Status Validated (trace)
Chromosome 11
Chromosomal Location 77873580-77921365 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 77913896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 446 (H446L)
Ref Sequence ENSEMBL: ENSMUSP00000103997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049167] [ENSMUST00000108360] [ENSMUST00000131680] [ENSMUST00000153428]
AlphaFold Q5SPL2
Predicted Effect possibly damaging
Transcript: ENSMUST00000049167
AA Change: H446L

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000044990
Gene: ENSMUSG00000037791
AA Change: H446L

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: H446L

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103997
Gene: ENSMUSG00000037791
AA Change: H446L

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 probably benign
Transcript: ENSMUST00000131680
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141620
Predicted Effect probably benign
Transcript: ENSMUST00000153428
SMART Domains Protein: ENSMUSP00000119390
Gene: ENSMUSG00000037791

DomainStartEndE-ValueType
low complexity region 67 81 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000153747
Meta Mutation Damage Score 0.1866 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 93.1%
Validation Efficiency 98% (57/58)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030468B19Rik A T 11: 117,693,787 (GRCm39) I85F probably benign Het
Abca8a T A 11: 109,956,051 (GRCm39) I778L probably benign Het
Abcc5 T C 16: 20,187,319 (GRCm39) N889S possibly damaging Het
Abcc5 T C 16: 20,217,635 (GRCm39) N359D probably damaging Het
Adam23 A G 1: 63,596,559 (GRCm39) probably benign Het
Adamts3 A T 5: 89,832,366 (GRCm39) D913E probably benign Het
Ap1b1 G T 11: 4,981,787 (GRCm39) C538F probably benign Het
Ash1l T A 3: 88,890,766 (GRCm39) S882T probably benign Het
C9 A T 15: 6,487,664 (GRCm39) E43D probably benign Het
Cacna2d1 T C 5: 16,399,796 (GRCm39) probably null Het
Ces2a A G 8: 105,464,169 (GRCm39) E267G probably damaging Het
Cfap61 A G 2: 145,781,836 (GRCm39) D23G probably damaging Het
Col9a3 T G 2: 180,251,263 (GRCm39) probably benign Het
Cstl1 T C 2: 148,592,908 (GRCm39) V21A probably benign Het
Cth A T 3: 157,610,812 (GRCm39) L340Q probably damaging Het
Dnah8 T A 17: 30,974,054 (GRCm39) M2813K probably damaging Het
Fam107a A T 14: 8,301,168 (GRCm38) Y21N probably benign Het
Fam184a G A 10: 53,531,175 (GRCm39) T733M probably damaging Het
Fer1l4 A G 2: 155,894,806 (GRCm39) V21A probably benign Het
Foxc2 A T 8: 121,844,774 (GRCm39) Y474F probably damaging Het
Hnf4g G T 3: 3,716,851 (GRCm39) probably benign Het
Hnrnpll T C 17: 80,369,261 (GRCm39) D54G unknown Het
Hydin A G 8: 111,145,130 (GRCm39) Y827C probably damaging Het
Il23r A G 6: 67,429,361 (GRCm39) V327A probably benign Het
Itih4 T A 14: 30,611,631 (GRCm39) V118D probably damaging Het
Kmt2d G A 15: 98,751,462 (GRCm39) probably benign Het
Lamb1 A G 12: 31,376,268 (GRCm39) D1546G possibly damaging Het
Large1 A T 8: 73,544,710 (GRCm39) D689E probably damaging Het
Map1a T C 2: 121,132,582 (GRCm39) S895P probably damaging Het
Mdn1 A C 4: 32,750,928 (GRCm39) E4487A probably benign Het
Myo15a T C 11: 60,411,740 (GRCm39) probably null Het
Nlrp4f C A 13: 65,338,720 (GRCm39) R639L probably benign Het
Or4f52 A G 2: 111,062,009 (GRCm39) F43S probably benign Het
Or8h10 T A 2: 86,808,567 (GRCm39) D191V probably damaging Het
Pcdh9 T C 14: 94,125,114 (GRCm39) N229S probably damaging Het
Pcnx2 A G 8: 126,488,306 (GRCm39) V1746A probably damaging Het
Phlpp2 A G 8: 110,622,138 (GRCm39) probably null Het
Psmb9 A C 17: 34,401,238 (GRCm39) V207G probably damaging Het
Ptprh C A 7: 4,600,997 (GRCm39) D127Y possibly damaging Het
Rabep1 T G 11: 70,811,733 (GRCm39) M535R probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Scin T C 12: 40,110,515 (GRCm39) D711G probably damaging Het
Slfn4 T C 11: 83,079,507 (GRCm39) I6T probably benign Het
Sos1 T A 17: 80,742,363 (GRCm39) E388V possibly damaging Het
Spag5 A C 11: 78,205,024 (GRCm39) Q603P probably damaging Het
Supv3l1 G T 10: 62,266,364 (GRCm39) T604N probably damaging Het
Tbx5 A G 5: 120,021,184 (GRCm39) S397G possibly damaging Het
Tmprss5 A G 9: 49,026,465 (GRCm39) D383G possibly damaging Het
Trim43b A G 9: 88,972,654 (GRCm39) W167R probably damaging Het
Unc80 A T 1: 66,609,160 (GRCm39) D1283V probably damaging Het
Upf1 A T 8: 70,786,730 (GRCm39) V918D probably benign Het
Vmn2r100 A G 17: 19,742,776 (GRCm39) I383M probably benign Het
Zc3h3 G T 15: 75,648,932 (GRCm39) S733R possibly damaging Het
Zcchc2 C T 1: 105,958,000 (GRCm39) P426S possibly damaging Het
Zkscan7 A G 9: 122,719,874 (GRCm39) probably null Het
Other mutations in Phf12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00826:Phf12 APN 11 77,906,332 (GRCm39) missense probably damaging 0.98
IGL00919:Phf12 APN 11 77,874,166 (GRCm39) missense probably damaging 1.00
IGL01434:Phf12 APN 11 77,914,385 (GRCm39) missense probably damaging 1.00
IGL02219:Phf12 APN 11 77,875,022 (GRCm39) missense probably damaging 0.97
IGL02727:Phf12 APN 11 77,914,493 (GRCm39) missense possibly damaging 0.83
IGL03064:Phf12 APN 11 77,874,186 (GRCm39) missense probably damaging 1.00
IGL03117:Phf12 APN 11 77,913,846 (GRCm39) unclassified probably benign
Fossa UTSW 11 77,897,608 (GRCm39) missense probably damaging 0.99
lemur UTSW 11 77,915,780 (GRCm39) splice site probably benign
R0457:Phf12 UTSW 11 77,908,994 (GRCm39) missense possibly damaging 0.94
R0656:Phf12 UTSW 11 77,920,158 (GRCm39) missense probably benign 0.44
R0905:Phf12 UTSW 11 77,900,230 (GRCm39) nonsense probably null
R1719:Phf12 UTSW 11 77,914,427 (GRCm39) missense probably damaging 1.00
R1742:Phf12 UTSW 11 77,900,312 (GRCm39) missense probably benign 0.04
R1826:Phf12 UTSW 11 77,915,780 (GRCm39) splice site probably benign
R2270:Phf12 UTSW 11 77,875,001 (GRCm39) missense possibly damaging 0.82
R2875:Phf12 UTSW 11 77,900,573 (GRCm39) missense probably damaging 1.00
R2885:Phf12 UTSW 11 77,914,595 (GRCm39) missense possibly damaging 0.75
R5020:Phf12 UTSW 11 77,914,622 (GRCm39) missense probably damaging 1.00
R5570:Phf12 UTSW 11 77,908,937 (GRCm39) missense possibly damaging 0.89
R5573:Phf12 UTSW 11 77,915,871 (GRCm39) missense probably damaging 1.00
R5689:Phf12 UTSW 11 77,914,551 (GRCm39) missense probably damaging 1.00
R5727:Phf12 UTSW 11 77,914,370 (GRCm39) missense probably damaging 1.00
R5807:Phf12 UTSW 11 77,913,252 (GRCm39) missense probably benign 0.16
R5910:Phf12 UTSW 11 77,918,224 (GRCm39) missense probably damaging 1.00
R6034:Phf12 UTSW 11 77,908,895 (GRCm39) missense probably benign 0.08
R6034:Phf12 UTSW 11 77,908,895 (GRCm39) missense probably benign 0.08
R6049:Phf12 UTSW 11 77,918,996 (GRCm39) splice site probably null
R6052:Phf12 UTSW 11 77,909,044 (GRCm39) missense probably benign 0.31
R6056:Phf12 UTSW 11 77,900,341 (GRCm39) missense probably benign 0.09
R6208:Phf12 UTSW 11 77,914,417 (GRCm39) missense probably damaging 0.97
R6644:Phf12 UTSW 11 77,916,918 (GRCm39) makesense probably null
R6805:Phf12 UTSW 11 77,918,199 (GRCm39) missense probably damaging 1.00
R6823:Phf12 UTSW 11 77,913,337 (GRCm39) nonsense probably null
R7047:Phf12 UTSW 11 77,904,099 (GRCm39) missense probably damaging 0.99
R7159:Phf12 UTSW 11 77,914,366 (GRCm39) missense possibly damaging 0.76
R7602:Phf12 UTSW 11 77,914,109 (GRCm39) missense probably benign
R7618:Phf12 UTSW 11 77,916,960 (GRCm39) missense unknown
R8162:Phf12 UTSW 11 77,915,651 (GRCm39) missense probably damaging 0.99
R8290:Phf12 UTSW 11 77,920,465 (GRCm39) missense probably benign 0.02
R8544:Phf12 UTSW 11 77,918,235 (GRCm39) missense probably damaging 0.99
R8834:Phf12 UTSW 11 77,897,608 (GRCm39) missense probably damaging 0.99
R9018:Phf12 UTSW 11 77,914,510 (GRCm39) missense possibly damaging 0.51
X0013:Phf12 UTSW 11 77,900,617 (GRCm39) missense probably damaging 1.00
X0027:Phf12 UTSW 11 77,919,721 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- TGTCTCCCATTGCTGCAAGCTG -3'
(R):5'- GGGGCTTTCTTGGACTTTTCCACAC -3'

Sequencing Primer
(F):5'- TGGAAATGTCAGCTCCACTG -3'
(R):5'- CTTGGACTTTTCCACACAAGAACTG -3'
Posted On 2013-05-23