Incidental Mutation 'V1024:Phf2'
ID 44023
Institutional Source Beutler Lab
Gene Symbol Phf2
Ensembl Gene ENSMUSG00000038025
Gene Name PHD finger protein 2
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.294) question?
Stock # V1024 () of strain 599
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 48955226-49024361 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 48957841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 1058 (A1058T)
Ref Sequence ENSEMBL: ENSMUSP00000047308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035540]
AlphaFold Q9WTU0
Predicted Effect possibly damaging
Transcript: ENSMUST00000035540
AA Change: A1058T

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000047308
Gene: ENSMUSG00000038025
AA Change: A1058T

DomainStartEndE-ValueType
PHD 7 54 1.08e-9 SMART
JmjC 197 353 1.98e-47 SMART
low complexity region 468 481 N/A INTRINSIC
low complexity region 487 532 N/A INTRINSIC
low complexity region 884 891 N/A INTRINSIC
coiled coil region 924 948 N/A INTRINSIC
low complexity region 953 1021 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.8%
Validation Efficiency 50% (2/4)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a zinc finger-like PHD (plant homeodomain) finger, distinct from other classes of zinc finger motifs, and a hydrophobic and highly conserved domain. The PHD finger shows the typical Cys4-His-Cys3 arrangement. PHD finger genes are thought to belong to a diverse group of transcriptional regulators possibly affecting eukaryotic gene expression by influencing chromatin structure. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial postnatal lethality, decreased body weight, decreased adipocity and impaired adipogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Dido1 G T 2: 180,330,807 (GRCm39) Q214K probably benign Het
Itgbl1 A G 14: 124,210,699 (GRCm39) N342D probably damaging Het
Loxl3 A T 6: 83,012,719 (GRCm39) E86V probably damaging Het
Plxna4 G A 6: 32,211,509 (GRCm39) R677W probably damaging Het
Pnmt G A 11: 98,278,513 (GRCm39) A160T probably benign Het
Rab24 C T 13: 55,468,561 (GRCm39) D144N probably benign Het
Slc7a1 C T 5: 148,271,355 (GRCm39) V535M probably benign Het
Stk32b T C 5: 37,614,578 (GRCm39) D310G probably damaging Het
Sult3a2 A T 10: 33,642,474 (GRCm39) H276Q probably benign Het
Vmo1 A G 11: 70,404,572 (GRCm39) F143S probably damaging Het
Zc3h18 TGAGGAGGAGGAGGAG TGAGGAGGAGGAG 8: 123,110,596 (GRCm39) probably benign Het
Other mutations in Phf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01146:Phf2 APN 13 48,973,083 (GRCm39) missense unknown
IGL01554:Phf2 APN 13 48,959,355 (GRCm39) nonsense probably null
IGL02063:Phf2 APN 13 48,975,118 (GRCm39) missense unknown
IGL02456:Phf2 APN 13 48,982,322 (GRCm39) missense unknown
IGL02498:Phf2 APN 13 48,958,715 (GRCm39) missense unknown
IGL02586:Phf2 APN 13 48,967,334 (GRCm39) splice site probably benign
IGL02688:Phf2 APN 13 48,959,315 (GRCm39) missense unknown
H8441:Phf2 UTSW 13 48,957,841 (GRCm39) missense possibly damaging 0.67
R0265:Phf2 UTSW 13 48,982,270 (GRCm39) missense unknown
R0389:Phf2 UTSW 13 48,957,965 (GRCm39) missense unknown
R0535:Phf2 UTSW 13 48,967,423 (GRCm39) missense unknown
R1162:Phf2 UTSW 13 48,973,117 (GRCm39) splice site probably benign
R1342:Phf2 UTSW 13 48,957,953 (GRCm39) missense unknown
R1551:Phf2 UTSW 13 48,985,579 (GRCm39) missense unknown
R1551:Phf2 UTSW 13 48,957,079 (GRCm39) missense probably damaging 1.00
R1567:Phf2 UTSW 13 48,985,589 (GRCm39) missense unknown
R1698:Phf2 UTSW 13 48,961,106 (GRCm39) missense unknown
R1766:Phf2 UTSW 13 48,973,033 (GRCm39) missense unknown
R1785:Phf2 UTSW 13 48,971,043 (GRCm39) missense unknown
R1997:Phf2 UTSW 13 48,982,384 (GRCm39) missense unknown
R2034:Phf2 UTSW 13 48,971,206 (GRCm39) missense unknown
R2096:Phf2 UTSW 13 48,985,589 (GRCm39) nonsense probably null
R2147:Phf2 UTSW 13 48,958,165 (GRCm39) missense unknown
R2149:Phf2 UTSW 13 48,958,165 (GRCm39) missense unknown
R2154:Phf2 UTSW 13 48,973,549 (GRCm39) missense unknown
R2296:Phf2 UTSW 13 48,988,754 (GRCm39) missense unknown
R4212:Phf2 UTSW 13 48,974,089 (GRCm39) missense unknown
R4749:Phf2 UTSW 13 48,975,185 (GRCm39) splice site probably null
R4770:Phf2 UTSW 13 48,957,079 (GRCm39) missense probably damaging 1.00
R4948:Phf2 UTSW 13 48,961,198 (GRCm39) missense unknown
R4989:Phf2 UTSW 13 48,961,320 (GRCm39) missense unknown
R5792:Phf2 UTSW 13 48,973,518 (GRCm39) splice site probably null
R5848:Phf2 UTSW 13 48,973,546 (GRCm39) missense unknown
R6092:Phf2 UTSW 13 48,969,533 (GRCm39) missense unknown
R6165:Phf2 UTSW 13 48,967,341 (GRCm39) critical splice donor site probably null
R6192:Phf2 UTSW 13 48,973,583 (GRCm39) missense unknown
R6237:Phf2 UTSW 13 48,957,131 (GRCm39) nonsense probably null
R6249:Phf2 UTSW 13 48,959,348 (GRCm39) missense unknown
R6489:Phf2 UTSW 13 48,979,658 (GRCm39) missense unknown
R7616:Phf2 UTSW 13 48,961,083 (GRCm39) missense unknown
R8058:Phf2 UTSW 13 48,976,558 (GRCm39) missense unknown
R8158:Phf2 UTSW 13 48,971,236 (GRCm39) missense probably benign 0.23
R8186:Phf2 UTSW 13 48,961,227 (GRCm39) missense unknown
R8218:Phf2 UTSW 13 48,958,104 (GRCm39) missense unknown
R8237:Phf2 UTSW 13 48,976,514 (GRCm39) missense unknown
R8431:Phf2 UTSW 13 48,975,078 (GRCm39) missense unknown
R8496:Phf2 UTSW 13 48,971,181 (GRCm39) missense unknown
R8774:Phf2 UTSW 13 48,971,878 (GRCm39) splice site probably benign
R8786:Phf2 UTSW 13 48,967,219 (GRCm39) missense unknown
R8792:Phf2 UTSW 13 48,970,981 (GRCm39) critical splice donor site probably benign
R9505:Phf2 UTSW 13 48,957,134 (GRCm39) missense probably damaging 1.00
R9632:Phf2 UTSW 13 48,971,292 (GRCm39) missense unknown
R9644:Phf2 UTSW 13 49,024,218 (GRCm39) nonsense probably null
R9704:Phf2 UTSW 13 48,959,374 (GRCm39) missense unknown
R9778:Phf2 UTSW 13 48,973,101 (GRCm39) missense unknown
X0027:Phf2 UTSW 13 48,985,594 (GRCm39) missense unknown
Z1176:Phf2 UTSW 13 48,961,183 (GRCm39) missense unknown
Z1177:Phf2 UTSW 13 48,958,069 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CACTTGTGGCAAATGCCTGAGC -3'
(R):5'- TGTCTGTGCCAGACTCTGATGTACC -3'

Sequencing Primer
(F):5'- GTAATCAGTGAGCCCTATTCAGC -3'
(R):5'- cctccccctccatctcc -3'
Posted On 2013-05-31