Incidental Mutation 'R3976:Phf8-ps'
ID 312664
Institutional Source Beutler Lab
Gene Symbol Phf8-ps
Ensembl Gene ENSMUSG00000023350
Gene Name PHD finger protein 8, pseudogene
Synonyms 4921501E09Rik
MMRRC Submission 040842-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # R3976 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 33283117-33286999 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33285405 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 466 (S466T)
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: S466T

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000024121
Gene: ENSMUSG00000023350
AA Change: S466T

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.3%
Validation Efficiency 98% (49/50)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,039,615 (GRCm39) D466G probably benign Het
Asb4 A T 6: 5,390,771 (GRCm39) M55L probably benign Het
Atxn7l1 T C 12: 33,375,954 (GRCm39) S10P probably damaging Het
Bola3 T C 6: 83,328,249 (GRCm39) L45P probably benign Het
Cacna2d4 A G 6: 119,255,134 (GRCm39) probably null Het
Cfap54 A G 10: 92,675,333 (GRCm39) S2863P possibly damaging Het
Cyb5r3 A G 15: 83,044,330 (GRCm39) V180A possibly damaging Het
Dglucy A T 12: 100,807,648 (GRCm39) T186S probably benign Het
Eml5 A T 12: 98,768,724 (GRCm39) probably benign Het
Fam90a1a G A 8: 22,451,432 (GRCm39) D98N probably damaging Het
Fbxo16 T A 14: 65,524,606 (GRCm39) L42Q probably damaging Het
Fbxw16 A G 9: 109,268,697 (GRCm39) V231A probably benign Het
Fermt3 G A 19: 6,979,792 (GRCm39) A447V possibly damaging Het
Fignl2 A G 15: 100,950,467 (GRCm39) L605P unknown Het
Gcsam T G 16: 45,440,192 (GRCm39) N78K probably damaging Het
Gdf2 T A 14: 33,666,791 (GRCm39) V171D probably damaging Het
Gm28042 C T 2: 119,867,237 (GRCm39) H218Y probably benign Het
Herpud2 A G 9: 25,021,734 (GRCm39) V304A probably damaging Het
Kcnma1 C T 14: 24,053,815 (GRCm39) probably null Het
Lrp3 T C 7: 34,903,530 (GRCm39) D251G probably benign Het
Mapkbp1 T C 2: 119,852,339 (GRCm39) V957A possibly damaging Het
Mepe C T 5: 104,484,944 (GRCm39) P28L probably benign Het
Muc2 T A 7: 141,300,541 (GRCm39) probably benign Het
Nt5dc2 T C 14: 30,860,832 (GRCm39) S439P probably damaging Het
Opn4 C T 14: 34,319,066 (GRCm39) R173H probably benign Het
Or2k2 A G 4: 58,785,164 (GRCm39) L186P probably damaging Het
Or4f14 C T 2: 111,742,951 (GRCm39) G108D possibly damaging Het
Ppp1r12a T C 10: 108,089,341 (GRCm39) V660A probably benign Het
Prdm6 T C 18: 53,673,278 (GRCm39) I186T possibly damaging Het
Rab18 T A 18: 6,778,529 (GRCm39) D53E probably benign Het
Rel A G 11: 23,692,939 (GRCm39) S365P probably benign Het
Rhbg C A 3: 88,151,843 (GRCm39) G383V probably damaging Het
Rnps1-ps A T 6: 7,983,149 (GRCm39) noncoding transcript Het
Rp1l1 T A 14: 64,267,758 (GRCm39) Y1115N probably damaging Het
Runx2 T C 17: 44,920,966 (GRCm39) T339A possibly damaging Het
Ryr3 T C 2: 112,506,182 (GRCm39) E3455G possibly damaging Het
Serpina1d A T 12: 103,734,107 (GRCm39) S66T probably benign Het
Setd3 T C 12: 108,131,417 (GRCm39) K3R possibly damaging Het
Spg7 A G 8: 123,806,187 (GRCm39) D299G probably damaging Het
Sptbn5 C T 2: 119,878,742 (GRCm39) noncoding transcript Het
Srcap A G 7: 127,148,411 (GRCm39) T1859A probably benign Het
Suox A G 10: 128,506,906 (GRCm39) V374A probably damaging Het
Tesk1 C T 4: 43,445,786 (GRCm39) P280S possibly damaging Het
Tsc22d1 T C 14: 76,656,049 (GRCm39) S761P probably damaging Het
Tubal3 C T 13: 3,982,946 (GRCm39) S242L probably benign Het
Ugt2b1 C A 5: 87,065,534 (GRCm39) V502L probably benign 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
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
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'- GACAGCCTACCTTCCATTGTTG -3'
(R):5'- ACTTGGCCTTTCAAGCCTG -3'

Sequencing Primer
(F):5'- AGATCCATGAAATTACAGCTATGTTG -3'
(R):5'- GCCTTTCAAGCCTGGACAAG -3'
Posted On 2015-04-30