Incidental Mutation 'R5039:Phf8-ps'
ID 395728
Institutional Source Beutler Lab
Gene Symbol Phf8-ps
Ensembl Gene ENSMUSG00000023350
Gene Name PHD finger protein 8, pseudogene
Synonyms 4921501E09Rik
MMRRC Submission 042629-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # R5039 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 33283117-33286999 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 33286734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 23 (C23G)
Ref Sequence ENSEMBL: ENSMUSP00000024121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024121]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000024121
AA Change: C23G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024121
Gene: ENSMUSG00000023350
AA Change: C23G

DomainStartEndE-ValueType
PHD 7 54 1.5e-8 SMART
JmjC 195 351 1.38e-46 SMART
low complexity region 475 489 N/A INTRINSIC
low complexity region 731 745 N/A INTRINSIC
Meta Mutation Damage Score 0.9748 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 G A 9: 44,192,863 (GRCm39) A161V probably damaging Het
Anapc2 T C 2: 25,164,808 (GRCm39) I64T possibly damaging Het
Arfgef1 T C 1: 10,269,961 (GRCm39) D396G probably benign Het
Ark2c A G 18: 77,550,608 (GRCm39) S107P probably damaging Het
Axl C T 7: 25,485,340 (GRCm39) V163M probably damaging Het
Blm G A 7: 80,155,621 (GRCm39) P353S possibly damaging Het
Btaf1 T C 19: 36,968,162 (GRCm39) Y1116H probably benign Het
Ccdc18 T A 5: 108,306,514 (GRCm39) probably null Het
Ccdc87 T C 19: 4,890,429 (GRCm39) probably null Het
Cdhr1 T C 14: 36,801,600 (GRCm39) N781S probably benign Het
Ctr9 C A 7: 110,642,064 (GRCm39) H297Q probably benign Het
Cyp2c55 A G 19: 39,026,587 (GRCm39) D398G probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dnmt3l T C 10: 77,888,734 (GRCm39) probably null Het
Dock4 C A 12: 40,867,745 (GRCm39) N1440K probably damaging Het
Etnk1 T A 6: 143,141,043 (GRCm39) probably null Het
Fam120a A T 13: 49,063,726 (GRCm39) probably null Het
Fanca T C 8: 124,010,785 (GRCm39) D908G probably benign Het
Gm17535 T A 9: 3,035,786 (GRCm39) L218H probably benign Het
Gm3633 A C 14: 42,461,161 (GRCm39) N42K possibly damaging Het
Gm4781 C A 10: 100,232,851 (GRCm39) noncoding transcript Het
Gm8741 G T 17: 35,555,062 (GRCm39) noncoding transcript Het
Gpr139 A G 7: 118,744,165 (GRCm39) V140A probably benign Het
Ighv1-62-3 G T 12: 115,425,014 (GRCm39) T13K probably benign Het
Itgb2l T C 16: 96,226,205 (GRCm39) T629A possibly damaging Het
Kcnb2 T C 1: 15,779,724 (GRCm39) S199P probably damaging Het
Kdm1b G A 13: 47,230,962 (GRCm39) G663D probably damaging Het
Lama1 A G 17: 68,052,888 (GRCm39) D407G possibly damaging Het
Macf1 T C 4: 123,405,013 (GRCm39) K391R probably damaging Het
Magi3 A T 3: 104,013,107 (GRCm39) S127T probably damaging Het
Map2 A T 1: 66,477,955 (GRCm39) D1759V probably damaging Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Myrfl T C 10: 116,658,616 (GRCm39) D447G probably damaging Het
Ndufb7 A G 8: 84,298,094 (GRCm39) probably benign Het
Nt5e T A 9: 88,245,634 (GRCm39) N301K probably benign Het
Or10d4b A T 9: 39,534,856 (GRCm39) T146S possibly damaging Het
Or8g27 T A 9: 39,129,410 (GRCm39) Y252* probably null Het
Pcdh10 A G 3: 45,336,296 (GRCm39) N870S probably damaging Het
Pcdh18 A G 3: 49,709,305 (GRCm39) V670A probably benign Het
Polr1c G T 17: 46,558,635 (GRCm39) probably benign Het
Ric3 G C 7: 108,637,930 (GRCm39) S274R probably benign Het
Rimbp3 A G 16: 17,031,195 (GRCm39) T1540A probably damaging Het
Rp1l1 A T 14: 64,268,805 (GRCm39) M1464L probably benign Het
Slc41a3 A G 6: 90,603,399 (GRCm39) Y140C probably damaging Het
Ssb A T 2: 69,696,581 (GRCm39) E38D possibly damaging Het
Syt14 A T 1: 192,709,292 (GRCm39) I16N probably damaging Het
Tet3 T C 6: 83,352,878 (GRCm39) T973A probably damaging Het
Tial1 T C 7: 128,045,692 (GRCm39) probably benign Het
Tnfrsf1a A G 6: 125,337,675 (GRCm39) T89A possibly damaging Het
Trpv5 T C 6: 41,652,879 (GRCm39) Y98C possibly damaging Het
Ylpm1 T A 12: 85,062,267 (GRCm39) S265T probably damaging Het
Ylpm1 A G 12: 85,089,013 (GRCm39) D1006G probably damaging Het
Other mutations in Phf8-ps
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Phf8-ps APN 17 33,284,837 (GRCm39) missense probably benign 0.10
IGL00790:Phf8-ps APN 17 33,286,361 (GRCm39) missense probably damaging 1.00
IGL01146:Phf8-ps APN 17 33,284,357 (GRCm39) missense possibly damaging 0.68
IGL01755:Phf8-ps APN 17 33,285,951 (GRCm39) missense probably damaging 0.99
IGL01880:Phf8-ps APN 17 33,285,690 (GRCm39) missense probably damaging 0.99
IGL01981:Phf8-ps APN 17 33,286,628 (GRCm39) missense probably damaging 1.00
IGL01982:Phf8-ps APN 17 33,285,289 (GRCm39) missense probably benign 0.00
IGL02047:Phf8-ps APN 17 33,286,275 (GRCm39) missense probably damaging 1.00
IGL02070:Phf8-ps APN 17 33,285,104 (GRCm39) missense probably damaging 0.98
R0055:Phf8-ps UTSW 17 33,285,696 (GRCm39) missense probably damaging 1.00
R0055:Phf8-ps UTSW 17 33,285,696 (GRCm39) missense probably damaging 1.00
R0893:Phf8-ps UTSW 17 33,284,263 (GRCm39) missense probably benign 0.34
R1528:Phf8-ps UTSW 17 33,286,215 (GRCm39) missense probably damaging 1.00
R1558:Phf8-ps UTSW 17 33,284,679 (GRCm39) missense probably benign 0.20
R1664:Phf8-ps UTSW 17 33,285,492 (GRCm39) missense probably damaging 1.00
R1782:Phf8-ps UTSW 17 33,286,662 (GRCm39) missense probably benign 0.06
R1881:Phf8-ps UTSW 17 33,284,258 (GRCm39) missense probably damaging 1.00
R2018:Phf8-ps UTSW 17 33,285,941 (GRCm39) missense probably benign 0.15
R2029:Phf8-ps UTSW 17 33,286,598 (GRCm39) nonsense probably null
R2152:Phf8-ps UTSW 17 33,285,908 (GRCm39) missense probably damaging 1.00
R2298:Phf8-ps UTSW 17 33,285,752 (GRCm39) missense probably damaging 1.00
R2395:Phf8-ps UTSW 17 33,284,936 (GRCm39) missense probably benign 0.28
R2424:Phf8-ps UTSW 17 33,284,730 (GRCm39) missense probably benign 0.00
R3973:Phf8-ps UTSW 17 33,285,405 (GRCm39) missense probably benign 0.24
R3976:Phf8-ps UTSW 17 33,285,405 (GRCm39) missense probably benign 0.24
R4159:Phf8-ps UTSW 17 33,285,023 (GRCm39) missense probably benign 0.01
R4160:Phf8-ps UTSW 17 33,285,023 (GRCm39) missense probably benign 0.01
R4161:Phf8-ps UTSW 17 33,285,023 (GRCm39) missense probably benign 0.01
R4761:Phf8-ps UTSW 17 33,286,172 (GRCm39) missense probably damaging 1.00
R4855:Phf8-ps UTSW 17 33,285,713 (GRCm39) missense probably benign 0.00
R5255:Phf8-ps UTSW 17 33,285,739 (GRCm39) nonsense probably null
R5383:Phf8-ps UTSW 17 33,284,231 (GRCm39) missense probably benign
R5520:Phf8-ps UTSW 17 33,284,367 (GRCm39) missense probably benign 0.03
R5588:Phf8-ps UTSW 17 33,285,249 (GRCm39) nonsense probably null
R5685:Phf8-ps UTSW 17 33,285,746 (GRCm39) missense probably benign 0.04
R5826:Phf8-ps UTSW 17 33,284,288 (GRCm39) missense possibly damaging 0.87
R5907:Phf8-ps UTSW 17 33,285,124 (GRCm39) missense probably benign 0.01
R6397:Phf8-ps UTSW 17 33,285,219 (GRCm39) missense probably benign 0.28
R6731:Phf8-ps UTSW 17 33,285,200 (GRCm39) missense probably benign 0.02
R6750:Phf8-ps UTSW 17 33,285,372 (GRCm39) missense possibly damaging 0.82
R7043:Phf8-ps UTSW 17 33,284,306 (GRCm39) missense possibly damaging 0.85
R7242:Phf8-ps UTSW 17 33,286,101 (GRCm39) missense probably damaging 1.00
R7262:Phf8-ps UTSW 17 33,285,971 (GRCm39) missense probably damaging 0.99
R7265:Phf8-ps UTSW 17 33,285,971 (GRCm39) missense probably damaging 0.99
R7286:Phf8-ps UTSW 17 33,284,501 (GRCm39) missense probably benign
R7797:Phf8-ps UTSW 17 33,286,664 (GRCm39) missense probably damaging 1.00
R8314:Phf8-ps UTSW 17 33,286,038 (GRCm39) missense probably benign 0.04
R8315:Phf8-ps UTSW 17 33,286,038 (GRCm39) missense probably benign 0.04
R8376:Phf8-ps UTSW 17 33,286,038 (GRCm39) missense probably benign 0.04
R8377:Phf8-ps UTSW 17 33,286,038 (GRCm39) missense probably benign 0.04
R8378:Phf8-ps UTSW 17 33,286,038 (GRCm39) missense probably benign 0.04
R8404:Phf8-ps UTSW 17 33,286,038 (GRCm39) missense probably benign 0.04
R8405:Phf8-ps UTSW 17 33,286,038 (GRCm39) missense probably benign 0.04
R8406:Phf8-ps UTSW 17 33,286,038 (GRCm39) missense probably benign 0.04
R8425:Phf8-ps UTSW 17 33,286,038 (GRCm39) missense probably benign 0.04
R8501:Phf8-ps UTSW 17 33,286,038 (GRCm39) missense probably benign 0.04
R8502:Phf8-ps UTSW 17 33,286,038 (GRCm39) missense probably benign 0.04
R9091:Phf8-ps UTSW 17 33,286,701 (GRCm39) missense probably damaging 1.00
R9220:Phf8-ps UTSW 17 33,286,494 (GRCm39) missense probably benign 0.26
R9270:Phf8-ps UTSW 17 33,286,701 (GRCm39) missense probably damaging 1.00
R9369:Phf8-ps UTSW 17 33,285,579 (GRCm39) missense probably damaging 1.00
R9766:Phf8-ps UTSW 17 33,285,647 (GRCm39) missense probably damaging 0.99
Z1176:Phf8-ps UTSW 17 33,284,631 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- AATAGAGGTAGGGCTCCCAGTC -3'
(R):5'- GGTCAAAGTAAGTGGCCTGTG -3'

Sequencing Primer
(F):5'- TAGGGCTCCCAGTCATCAATG -3'
(R):5'- GCCTGTGAAGGGCTCAAAG -3'
Posted On 2016-06-21