Incidental Mutation 'R4159:Phf8-ps'
ID 315677
Institutional Source Beutler Lab
Gene Symbol Phf8-ps
Ensembl Gene ENSMUSG00000023350
Gene Name PHD finger protein 8, pseudogene
Synonyms 4921501E09Rik
MMRRC Submission 041002-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # R4159 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 33283117-33286999 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 33285023 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 593 (T593I)
Ref Sequence ENSEMBL: ENSMUSP00000024121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024121]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000024121
AA Change: T593I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000024121
Gene: ENSMUSG00000023350
AA Change: T593I

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 96% (45/47)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 T G 12: 81,466,806 (GRCm39) D605A probably damaging Het
Adcy1 A G 11: 7,013,889 (GRCm39) H97R probably damaging Het
Amdhd1 A G 10: 93,370,512 (GRCm39) Y109H probably damaging Het
Ankhd1 A G 18: 36,722,593 (GRCm39) N372S possibly damaging Het
Aoc2 G A 11: 101,216,122 (GRCm39) M68I probably damaging Het
Aspscr1 G A 11: 120,599,502 (GRCm39) A377T probably damaging Het
Bltp1 T A 3: 36,985,232 (GRCm39) M854K probably benign Het
Bltp3a A G 17: 28,103,061 (GRCm39) Y365C probably damaging Het
Cacnb1 G C 11: 97,903,100 (GRCm39) C154W probably damaging Het
Ccdc186 G A 19: 56,781,924 (GRCm39) R27* probably null Het
Clnk C A 5: 38,899,138 (GRCm39) probably benign Het
Dse A G 10: 34,029,330 (GRCm39) F587L probably damaging Het
Fut8 T C 12: 77,440,523 (GRCm39) L170P probably damaging Het
G3bp2 T C 5: 92,212,260 (GRCm39) H217R probably benign Het
Gm19345 G A 7: 19,588,886 (GRCm39) probably benign Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Kcne4 A G 1: 78,795,819 (GRCm39) N156D probably benign Het
Met G T 6: 17,562,271 (GRCm39) probably null Het
Mfsd3 T C 15: 76,585,945 (GRCm39) L26P probably damaging Het
Oasl1 A G 5: 115,075,073 (GRCm39) K378E possibly damaging Het
Pde8a A G 7: 80,970,407 (GRCm39) I510V probably benign Het
Pds5a T C 5: 65,821,839 (GRCm39) T120A possibly damaging Het
Phkb T A 8: 86,748,162 (GRCm39) probably null Het
Ptprz1 A T 6: 23,001,683 (GRCm39) K1258* probably null Het
Senp7 C A 16: 55,973,832 (GRCm39) P351Q possibly damaging Het
Slc15a5 G T 6: 138,049,938 (GRCm39) T159K possibly damaging Het
Slc39a6 A G 18: 24,730,885 (GRCm39) V362A possibly damaging Het
Spef2 A T 15: 9,676,407 (GRCm39) D721E probably damaging Het
Sting1 A T 18: 35,872,272 (GRCm39) Y77N probably damaging Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Tnxb A G 17: 34,930,491 (GRCm39) T2059A probably damaging Het
Ttll8 T C 15: 88,801,444 (GRCm39) N415D probably benign Het
Ube2d2a A T 18: 35,903,577 (GRCm39) probably benign Het
Unc79 A G 12: 103,036,512 (GRCm39) probably benign Het
Ush2a G A 1: 188,460,907 (GRCm39) V2723M probably damaging Het
Vmn2r102 T A 17: 19,898,088 (GRCm39) C368S probably damaging Het
Vmn2r3 G A 3: 64,194,850 (GRCm39) Q23* probably null 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
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
R5039:Phf8-ps UTSW 17 33,286,734 (GRCm39) missense probably damaging 1.00
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'- GGTGATCTCAGTTTCCCCTG -3'
(R):5'- ACAATGGAAGGTAGGCTGTCTC -3'

Sequencing Primer
(F):5'- CCCCTGGATCATGACTTTGG -3'
(R):5'- TAGGCTGTCTCCAAAACGTAG -3'
Posted On 2015-05-14