Incidental Mutation 'IGL01982:Phf8-ps'
ID 182733
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phf8-ps
Ensembl Gene ENSMUSG00000023350
Gene Name PHD finger protein 8, pseudogene
Synonyms 4921501E09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # IGL01982
Quality Score
Status
Chromosome 17
Chromosomal Location 33283117-33286999 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 33285289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 504 (E504D)
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: E504D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000024121
Gene: ENSMUSG00000023350
AA Change: E504D

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A C 1: 71,385,857 (GRCm39) S254A probably benign Het
Abca7 T G 10: 79,838,475 (GRCm39) L583R probably damaging Het
Acp1 A T 12: 30,961,491 (GRCm39) L14H possibly damaging Het
Adar A G 3: 89,645,397 (GRCm39) I3V probably benign Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Aldh1l1 A G 6: 90,536,845 (GRCm39) I103V probably benign Het
Asic3 C A 5: 24,622,719 (GRCm39) T523N probably benign Het
Aspm T C 1: 139,419,326 (GRCm39) V1732A probably benign Het
Atad3a C T 4: 155,838,384 (GRCm39) R211Q possibly damaging Het
Bahcc1 A G 11: 120,178,299 (GRCm39) Y2286C probably damaging Het
BC034090 T C 1: 155,099,078 (GRCm39) E569G probably damaging Het
Bpifb3 A G 2: 153,767,521 (GRCm39) N237S probably benign Het
Bysl C A 17: 47,921,996 (GRCm39) probably null Het
C2cd6 T C 1: 59,106,932 (GRCm39) probably benign Het
Ccdc141 A G 2: 76,861,003 (GRCm39) F925L probably damaging Het
Cdca2 A T 14: 67,915,168 (GRCm39) V697E probably damaging Het
Cers1 A G 8: 70,776,081 (GRCm39) D324G probably damaging Het
Ctsq T A 13: 61,186,732 (GRCm39) I91F probably benign Het
Ctsq C T 13: 61,187,335 (GRCm39) C11Y probably benign Het
Cyp11b1 T C 15: 74,711,252 (GRCm39) N142S possibly damaging Het
Cyp3a59 G T 5: 146,041,545 (GRCm39) S363I probably benign Het
Eps15l1 A T 8: 73,132,919 (GRCm39) D567E probably benign Het
Esf1 G A 2: 140,006,448 (GRCm39) A233V probably benign Het
Fras1 A T 5: 96,887,107 (GRCm39) I2630F possibly damaging Het
Fyb1 A T 15: 6,609,658 (GRCm39) E77V probably null Het
Gjb6 C A 14: 57,362,030 (GRCm39) W77L probably damaging Het
Gm21983 A G 7: 26,879,703 (GRCm39) V88A possibly damaging Het
Gm8247 A G 14: 44,823,088 (GRCm39) T52A probably damaging Het
Gpr108 T C 17: 57,544,877 (GRCm39) K329E probably damaging Het
Gpr141 T A 13: 19,935,908 (GRCm39) H289L probably benign Het
Ilvbl T C 10: 78,414,856 (GRCm39) Y240H probably damaging Het
Kntc1 G A 5: 123,947,159 (GRCm39) A1868T probably benign Het
Lrmda A C 14: 22,634,550 (GRCm39) N112T probably damaging Het
Ly75 T C 2: 60,142,108 (GRCm39) Y1334C probably damaging Het
Macc1 C A 12: 119,409,369 (GRCm39) P46T probably benign Het
Madd A T 2: 91,006,052 (GRCm39) F381Y probably damaging Het
Map3k20 C T 2: 72,128,677 (GRCm39) Q38* probably null Het
Mcm4 A T 16: 15,448,284 (GRCm39) D424E possibly damaging Het
Micu1 T A 10: 59,699,100 (GRCm39) M463K possibly damaging Het
Mkrn2os A G 6: 115,562,492 (GRCm39) L157P probably damaging Het
Nectin2 A G 7: 19,451,487 (GRCm39) S516P probably damaging Het
Nme5 T A 18: 34,702,928 (GRCm39) D120V probably damaging Het
Npy4r T C 14: 33,869,282 (GRCm39) N2S possibly damaging Het
Nup107 A T 10: 117,595,245 (GRCm39) probably benign Het
Omd T C 13: 49,742,973 (GRCm39) Y8H possibly damaging Het
Ppp1r15a T C 7: 45,173,803 (GRCm39) probably benign Het
Ppp2ca T C 11: 51,989,891 (GRCm39) F6L probably benign Het
Rab1a T C 11: 20,174,717 (GRCm39) S97P probably benign Het
Ranbp3l G A 15: 9,058,827 (GRCm39) G359R probably damaging Het
Rnf213 A T 11: 119,334,094 (GRCm39) H3101L probably damaging Het
Slc27a4 T C 2: 29,702,627 (GRCm39) F509S probably damaging Het
Slco4a1 T C 2: 180,114,946 (GRCm39) V623A probably benign Het
Spart T A 3: 55,035,911 (GRCm39) probably null Het
Sptan1 A G 2: 29,909,980 (GRCm39) D1780G probably damaging Het
Tgm7 G T 2: 120,924,106 (GRCm39) Y605* probably null Het
Tmem106b T C 6: 13,071,968 (GRCm39) probably benign Het
Trak2 G A 1: 58,965,814 (GRCm39) A120V possibly damaging Het
Trappc8 G A 18: 21,007,769 (GRCm39) probably benign Het
Trim66 T C 7: 109,057,970 (GRCm39) T973A probably benign Het
Ttyh3 C A 5: 140,621,829 (GRCm39) probably benign Het
Ugt2b37 A C 5: 87,390,291 (GRCm39) I385S probably damaging Het
Usf3 A G 16: 44,039,180 (GRCm39) N1220S possibly damaging Het
Utrn A T 10: 12,623,773 (GRCm39) I155N probably damaging Het
Vps13b C T 15: 35,439,050 (GRCm39) Q377* probably null Het
Washc2 A T 6: 116,213,150 (GRCm39) E570D probably benign Het
Wscd1 T C 11: 71,657,699 (GRCm39) V168A possibly damaging Het
Zfp386 T A 12: 116,022,788 (GRCm39) C169S 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
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
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
Posted On 2014-05-07