Incidental Mutation 'R6052:Phf12'
ID 484177
Institutional Source Beutler Lab
Gene Symbol Phf12
Ensembl Gene ENSMUSG00000037791
Gene Name PHD finger protein 12
Synonyms PF1, 2410142K10Rik
MMRRC Submission 044220-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.704) question?
Stock # R6052 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 77873580-77921365 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77909044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 375 (R375G)
Ref Sequence ENSEMBL: ENSMUSP00000103997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049167] [ENSMUST00000108360]
AlphaFold Q5SPL2
Predicted Effect probably benign
Transcript: ENSMUST00000049167
AA Change: R375G

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000044990
Gene: ENSMUSG00000037791
AA Change: R375G

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: R375G

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000103997
Gene: ENSMUSG00000037791
AA Change: R375G

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
Meta Mutation Damage Score 0.1271 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.7%
Validation Efficiency 96% (80/83)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,537,165 (GRCm39) F473L probably benign Het
Ankrd17 T C 5: 90,401,691 (GRCm39) I1449V probably benign Het
Aox4 T A 1: 58,293,477 (GRCm39) L943* probably null Het
Arap1 G A 7: 101,053,240 (GRCm39) V1257M probably damaging Het
B3gnt9 T C 8: 105,981,230 (GRCm39) S53G probably benign Het
Baiap3 A T 17: 25,467,444 (GRCm39) probably benign Het
Canx T C 11: 50,187,946 (GRCm39) D554G possibly damaging Het
Cbfa2t2 T C 2: 154,352,501 (GRCm39) V165A probably damaging Het
Ccdc17 C T 4: 116,457,145 (GRCm39) probably null Het
Cdcp1 A G 9: 123,014,396 (GRCm39) I126T probably benign Het
Cdk13 A T 13: 17,895,800 (GRCm39) D1036E probably damaging Het
Cfap157 A G 2: 32,669,863 (GRCm39) L240P probably damaging Het
Clec18a C A 8: 111,805,448 (GRCm39) E218* probably null Het
Col3a1 T C 1: 45,384,173 (GRCm39) probably benign Het
Dennd4a A G 9: 64,794,227 (GRCm39) E682G probably damaging Het
Dnah14 T C 1: 181,494,052 (GRCm39) V1736A possibly damaging Het
Dpep2 T A 8: 106,717,270 (GRCm39) D162V possibly damaging Het
Drd3 C A 16: 43,641,646 (GRCm39) P321T probably benign Het
Egfr A G 11: 16,861,554 (GRCm39) H1111R probably benign Het
Entpd1 T C 19: 40,708,928 (GRCm39) S58P probably damaging Het
Epha3 C A 16: 63,423,967 (GRCm39) V541L possibly damaging Het
Eri3 T A 4: 117,421,825 (GRCm39) D34E probably damaging Het
Eya1 T C 1: 14,353,374 (GRCm39) D58G probably damaging Het
Fat3 T A 9: 15,833,975 (GRCm39) S26C probably null Het
Fgl1 T C 8: 41,653,548 (GRCm39) D115G probably damaging Het
Fitm2 T C 2: 163,312,036 (GRCm39) Y59C probably damaging Het
Fras1 T A 5: 96,912,725 (GRCm39) I3343N probably damaging Het
Gba2 C A 4: 43,568,330 (GRCm39) C679F probably damaging Het
Glis2 G A 16: 4,431,603 (GRCm39) probably benign Het
Gm5150 T A 3: 16,044,917 (GRCm39) I103F probably damaging Het
Hhipl2 T C 1: 183,204,965 (GRCm39) S313P possibly damaging Het
Hmgcs1 A G 13: 120,166,995 (GRCm39) D474G probably benign Het
Homer3 C T 8: 70,744,076 (GRCm39) Q267* probably null Het
Hsd17b8 A G 17: 34,246,429 (GRCm39) L118P probably damaging Het
Igkv8-28 C T 6: 70,120,673 (GRCm39) G90D probably damaging Het
Kalrn T A 16: 34,181,255 (GRCm39) I128F probably damaging Het
Krt4 A G 15: 101,831,194 (GRCm39) probably null Het
Lamb2 T A 9: 108,364,811 (GRCm39) C1188* probably null Het
Lsr A T 7: 30,658,042 (GRCm39) M355K probably damaging Het
Map3k11 T G 19: 5,747,430 (GRCm39) D555E probably benign Het
Myocd A G 11: 65,087,082 (GRCm39) Y282H probably damaging Het
Nae1 T C 8: 105,261,176 (GRCm39) I7M probably benign Het
Nprl3 G T 11: 32,205,453 (GRCm39) H102N possibly damaging Het
Nup62 T A 7: 44,478,464 (GRCm39) F160I possibly damaging Het
Or10w1 C A 19: 13,631,871 (GRCm39) P26Q possibly damaging Het
Or2d3c A T 7: 106,525,896 (GRCm39) F257I probably benign Het
Or2r2 T A 6: 42,463,588 (GRCm39) T180S possibly damaging Het
Or5p76 A G 7: 108,122,945 (GRCm39) S71P probably benign Het
Or6c35 C A 10: 129,169,071 (GRCm39) T107K possibly damaging Het
Osbpl10 T C 9: 114,896,383 (GRCm39) probably null Het
Pcdh9 C T 14: 94,123,282 (GRCm39) V963I probably benign Het
Piezo1 G A 8: 123,233,008 (GRCm39) T108M probably damaging Het
Plxnc1 T A 10: 94,779,635 (GRCm39) Q269L probably benign Het
Pomgnt1 T A 4: 116,008,799 (GRCm39) N11K possibly damaging Het
Pramel22 T A 4: 143,382,222 (GRCm39) D158V probably damaging Het
Prkd1 A T 12: 50,413,083 (GRCm39) probably null Het
Prpf40a T C 2: 53,049,293 (GRCm39) T190A probably benign Het
Prrc2b A C 2: 32,102,297 (GRCm39) H790P possibly damaging Het
Rest T G 5: 77,429,027 (GRCm39) V482G probably benign Het
Ros1 T A 10: 52,039,999 (GRCm39) I322L probably benign Het
Rpl18 G A 7: 45,369,554 (GRCm39) probably benign Het
Rsad2 G A 12: 26,500,577 (GRCm39) H237Y probably benign Het
Sbf2 A G 7: 110,040,741 (GRCm39) L362S probably damaging Het
Sgsm3 A G 15: 80,893,464 (GRCm39) T409A probably benign Het
Slc16a14 T C 1: 84,890,430 (GRCm39) T292A possibly damaging Het
Spg11 T G 2: 121,927,837 (GRCm39) K649T probably damaging Het
Srprb T A 9: 103,067,415 (GRCm39) I268F possibly damaging Het
Tap2 G A 17: 34,433,683 (GRCm39) G566S probably damaging Het
Tecpr2 T C 12: 110,885,325 (GRCm39) V168A possibly damaging Het
Tln1 G C 4: 43,555,052 (GRCm39) F259L probably damaging Het
Tmem181a T A 17: 6,330,890 (GRCm39) L50H probably damaging Het
Tshz1 A G 18: 84,032,194 (GRCm39) I738T probably damaging Het
Tspan12 T C 6: 21,772,637 (GRCm39) E304G probably benign Het
Urb1 C T 16: 90,559,271 (GRCm39) G1671S probably damaging Het
Vmn2r2 T C 3: 64,024,782 (GRCm39) S600G possibly damaging Het
Wnt3 C A 11: 103,699,000 (GRCm39) Y35* probably null Het
Xpo7 T C 14: 70,921,159 (GRCm39) Y603C possibly damaging Het
Zfp457 G A 13: 67,442,015 (GRCm39) H91Y probably damaging Het
Zfp664 T A 5: 124,963,250 (GRCm39) C215S unknown Het
Zfp882 G A 8: 72,668,349 (GRCm39) G392D 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
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
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'- GGCCAGCACCCTTCAAATTC -3'
(R):5'- GACAACTGGGCTTGTAATAGGC -3'

Sequencing Primer
(F):5'- CCCTTCAAATTCACCAGAGTGG -3'
(R):5'- AATAGGCTGAAGGGTGCTTATC -3'
Posted On 2017-07-14