Incidental Mutation 'R5020:Phf12'
ID 389158
Institutional Source Beutler Lab
Gene Symbol Phf12
Ensembl Gene ENSMUSG00000037791
Gene Name PHD finger protein 12
Synonyms PF1, 2410142K10Rik
MMRRC Submission 042611-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.704) question?
Stock # R5020 (G1)
Quality Score 208
Status Validated
Chromosome 11
Chromosomal Location 77873580-77921365 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77914622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 139 (F139S)
Ref Sequence ENSEMBL: ENSMUSP00000119390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049167] [ENSMUST00000108360] [ENSMUST00000131680] [ENSMUST00000153428]
AlphaFold Q5SPL2
Predicted Effect probably benign
Transcript: ENSMUST00000049167
AA Change: F688S

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000044990
Gene: ENSMUSG00000037791
AA Change: F688S

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 probably benign
Transcript: ENSMUST00000108360
AA Change: F688S

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000103997
Gene: ENSMUSG00000037791
AA Change: F688S

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 unknown
Transcript: ENSMUST00000123662
AA Change: F26S
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125079
Predicted Effect possibly damaging
Transcript: ENSMUST00000131680
AA Change: F34S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141620
Predicted Effect probably damaging
Transcript: ENSMUST00000153428
AA Change: F139S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119390
Gene: ENSMUSG00000037791
AA Change: F139S

DomainStartEndE-ValueType
low complexity region 67 81 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000153747
AA Change: F56S
Meta Mutation Damage Score 0.0737 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 99% (72/73)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb A T 7: 131,042,929 (GRCm39) probably null Het
Actl6a A G 3: 32,774,656 (GRCm39) I340V possibly damaging Het
Alppl2 C T 1: 87,017,431 (GRCm39) V19I probably benign Het
Ankrd34c T C 9: 89,611,759 (GRCm39) K194R probably benign Het
Anpep T A 7: 79,483,475 (GRCm39) M672L probably benign Het
Arhgap31 T C 16: 38,423,438 (GRCm39) D876G probably damaging Het
Arid2 T A 15: 96,269,869 (GRCm39) N1327K probably damaging Het
Atp5f1d C A 10: 79,981,263 (GRCm39) P101Q probably benign Het
Bcl7b G A 5: 135,200,017 (GRCm39) probably null Het
Brca2 A T 5: 150,483,901 (GRCm39) S2907C probably damaging Het
Ccser2 T C 14: 36,662,134 (GRCm39) E350G probably benign Het
Cdh23 G T 10: 60,143,811 (GRCm39) D2929E probably damaging Het
Clec2i T A 6: 128,870,621 (GRCm39) V78E probably benign Het
Cpxm1 A T 2: 130,237,897 (GRCm39) probably null Het
Crybg3 C T 16: 59,375,159 (GRCm39) V2032I possibly damaging Het
Eif5b A T 1: 38,058,150 (GRCm39) K151* probably null Het
Gemin7 T A 7: 19,299,348 (GRCm39) E82D possibly damaging Het
Gm14496 A G 2: 181,633,152 (GRCm39) E45G possibly damaging Het
Gm21915 T C 9: 40,581,966 (GRCm39) S20P probably damaging Het
Gm8126 A C 14: 43,119,026 (GRCm39) E165A probably damaging Het
Grin2b T C 6: 135,710,405 (GRCm39) D1047G probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Ikbke T A 1: 131,201,397 (GRCm39) Y150F probably damaging Het
Inhca T C 9: 103,159,701 (GRCm39) D70G probably benign Het
Itih5 T A 2: 10,245,315 (GRCm39) probably null Het
Lrig2 T C 3: 104,365,217 (GRCm39) Q645R possibly damaging Het
Map4 A G 9: 109,897,868 (GRCm39) M712V probably benign Het
Mecom A G 3: 30,015,255 (GRCm39) S823P probably damaging Het
Mettl25 A G 10: 105,662,068 (GRCm39) Y301H possibly damaging Het
Mga A T 2: 119,781,654 (GRCm39) K2136* probably null Het
Mmp24 A G 2: 155,652,204 (GRCm39) E304G probably benign Het
Mmp3 T A 9: 7,445,984 (GRCm39) D29E probably benign Het
Nbas T A 12: 13,424,713 (GRCm39) I984N probably damaging Het
Nedd9 A G 13: 41,469,270 (GRCm39) Y628H probably damaging Het
Nlrp2 C T 7: 5,331,076 (GRCm39) C440Y probably damaging Het
Or4g16 T C 2: 111,136,637 (GRCm39) V29A probably benign Het
Or6p1 T G 1: 174,258,237 (GRCm39) L81R probably damaging Het
P4ha2 T C 11: 54,022,016 (GRCm39) V513A probably damaging Het
Pcsk4 T C 10: 80,161,869 (GRCm39) N124S probably benign Het
Phlpp2 T A 8: 110,666,714 (GRCm39) L1081H probably damaging Het
Phospho2 T A 2: 69,626,323 (GRCm39) F160I probably damaging Het
Plch2 T G 4: 155,091,540 (GRCm39) D115A probably damaging Het
Plekho1 A G 3: 95,896,851 (GRCm39) F215S probably damaging Het
Psma4 C A 9: 54,860,056 (GRCm39) A47E probably damaging Het
Rasa4 A C 5: 136,130,153 (GRCm39) Q303P probably damaging Het
Rbmxl2 C T 7: 106,809,414 (GRCm39) P233L probably damaging Het
Reln A T 5: 22,239,636 (GRCm39) L877H probably damaging Het
Rtel1 A G 2: 180,964,307 (GRCm39) probably null Het
Septin12 T C 16: 4,811,620 (GRCm39) D116G probably damaging Het
Son T A 16: 91,453,263 (GRCm39) V670E probably damaging Het
Spag9 T A 11: 93,988,612 (GRCm39) I544N probably benign Het
Spsb3 T G 17: 25,106,036 (GRCm39) probably benign Het
Tcstv2c T C 13: 120,616,652 (GRCm39) F164L possibly damaging Het
Tgfbr3 T C 5: 107,362,836 (GRCm39) T59A probably damaging Het
Tsc1 T A 2: 28,566,531 (GRCm39) I649K probably damaging Het
Txndc9 T C 1: 38,034,793 (GRCm39) D37G probably benign Het
Uba7 C T 9: 107,856,113 (GRCm39) A496V probably benign Het
Usf3 T A 16: 44,035,889 (GRCm39) I123N probably damaging Het
Vmn1r184 T A 7: 25,966,955 (GRCm39) S234T possibly damaging Het
Vsig10l C A 7: 43,114,741 (GRCm39) S314* probably null Het
Wdfy4 A G 14: 32,801,892 (GRCm39) F1922S probably damaging Het
Zfp219 C T 14: 52,247,112 (GRCm39) R5H probably damaging Het
Zfp946 G T 17: 22,674,584 (GRCm39) C446F probably benign 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
R0477:Phf12 UTSW 11 77,913,896 (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
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'- AGTTTGGTACCCGTCCCAAG -3'
(R):5'- GCTAACACAGCCTTTCATCTG -3'

Sequencing Primer
(F):5'- CCCAGCTCTTGTGCCAG -3'
(R):5'- ACAGCCTTTCATCTGCCATAAG -3'
Posted On 2016-06-06