Incidental Mutation 'IGL03117:Phf12'
ID 419500
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phf12
Ensembl Gene ENSMUSG00000037791
Gene Name PHD finger protein 12
Synonyms PF1, 2410142K10Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.704) question?
Stock # IGL03117
Quality Score
Status
Chromosome 11
Chromosomal Location 77873580-77921365 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 77913846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000049167] [ENSMUST00000108360] [ENSMUST00000131680] [ENSMUST00000153428]
AlphaFold Q5SPL2
Predicted Effect probably benign
Transcript: ENSMUST00000049167
SMART Domains Protein: ENSMUSP00000044990
Gene: ENSMUSG00000037791

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
SMART Domains Protein: ENSMUSP00000103997
Gene: ENSMUSG00000037791

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna2d3 A G 14: 29,189,909 (GRCm39) L109P probably damaging Het
Caprin2 A T 6: 148,763,964 (GRCm39) S568T possibly damaging Het
Catip A G 1: 74,403,744 (GRCm39) T154A probably null Het
Ccdc187 A G 2: 26,177,980 (GRCm39) S270P possibly damaging Het
Ccdc88a A G 11: 29,324,559 (GRCm39) Y39C probably damaging Het
Chrdl2 A T 7: 99,676,787 (GRCm39) H203L possibly damaging Het
Chrnb2 A G 3: 89,670,552 (GRCm39) V62A probably damaging Het
Cklf T A 8: 104,984,055 (GRCm39) S73T possibly damaging Het
Clk1 A G 1: 58,456,166 (GRCm39) probably null Het
Ctdp1 T C 18: 80,492,716 (GRCm39) D593G probably damaging Het
Ctsc A T 7: 87,958,988 (GRCm39) I423F probably damaging Het
D130043K22Rik T A 13: 25,073,825 (GRCm39) V968E probably damaging Het
Dennd4c A G 4: 86,696,140 (GRCm39) S166G possibly damaging Het
Dnah2 G T 11: 69,327,117 (GRCm39) probably benign Het
Dnajb11 G T 16: 22,687,888 (GRCm39) R206L probably benign Het
Dsel A T 1: 111,786,908 (GRCm39) probably benign Het
Ehd2 T C 7: 15,684,396 (GRCm39) S468G possibly damaging Het
Ehmt2 T A 17: 35,125,787 (GRCm39) V640E possibly damaging Het
Elmo2 T A 2: 165,140,573 (GRCm39) E299D probably benign Het
Eps8l1 T C 7: 4,473,886 (GRCm39) L231P probably damaging Het
Esd A G 14: 74,978,686 (GRCm39) T83A probably damaging Het
Flt3 A G 5: 147,293,020 (GRCm39) F529L probably benign Het
Hnrnpu G A 1: 178,158,339 (GRCm39) probably benign Het
Hpx G T 7: 105,249,278 (GRCm39) A7E possibly damaging Het
Ighv6-5 C T 12: 114,380,320 (GRCm39) V85M possibly damaging Het
Itpr3 G A 17: 27,338,240 (GRCm39) V2503I probably damaging Het
Itprid1 A G 6: 55,875,114 (GRCm39) T355A probably benign Het
Matr3 G T 18: 35,705,710 (GRCm39) G212C probably damaging Het
Mrpl35 A T 6: 71,793,263 (GRCm39) Y129* probably null Het
Myh2 T C 11: 67,071,710 (GRCm39) I509T possibly damaging Het
Nat8l G T 5: 34,158,288 (GRCm39) A233S probably damaging Het
Nipbl A C 15: 8,361,936 (GRCm39) L1447W probably damaging Het
Paf1 T A 7: 28,094,481 (GRCm39) C31S possibly damaging Het
Parp4 A C 14: 56,840,313 (GRCm39) T573P probably benign Het
Pi4k2b A G 5: 52,905,765 (GRCm39) E102G probably benign Het
Pou2f1 A G 1: 165,762,382 (GRCm39) C7R probably benign Het
Prpsap2 T C 11: 61,631,815 (GRCm39) R181G probably benign Het
Psd A G 19: 46,311,561 (GRCm39) probably benign Het
Ptgds T C 2: 25,359,622 (GRCm39) T22A probably benign Het
Rab21 A T 10: 115,151,097 (GRCm39) probably null Het
Relb T C 7: 19,346,582 (GRCm39) D330G probably damaging Het
Rhoc A T 3: 104,700,236 (GRCm39) T100S probably benign Het
Ryr1 G T 7: 28,802,389 (GRCm39) H744N probably damaging Het
Sardh C T 2: 27,129,458 (GRCm39) G280D probably damaging Het
Scyl2 A C 10: 89,493,729 (GRCm39) N346K possibly damaging Het
Sec16b T C 1: 157,362,970 (GRCm39) F267S probably damaging Het
Slc44a5 T A 3: 153,956,714 (GRCm39) M322K probably benign Het
St8sia4 T A 1: 95,519,508 (GRCm39) N327Y probably benign Het
Tbl1xr1 T A 3: 22,257,323 (GRCm39) Y395* probably null Het
Unc13c A T 9: 73,441,307 (GRCm39) S1897R probably benign Het
Vangl2 A G 1: 171,840,415 (GRCm39) S58P probably damaging Het
Vmn1r17 A G 6: 57,337,501 (GRCm39) I288T probably benign Het
Vmn1r236 A G 17: 21,507,508 (GRCm39) I209V probably benign Het
Zfp809 A G 9: 22,149,950 (GRCm39) Y149C probably damaging 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
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
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
Posted On 2016-08-02