Incidental Mutation 'R5805:Phf20'
ID 501551
Institutional Source Beutler Lab
Gene Symbol Phf20
Ensembl Gene ENSMUSG00000038116
Gene Name PHD finger protein 20
Synonyms 6820402O20Rik
MMRRC Submission 043212-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.909) question?
Stock # R5805 (G1)
Quality Score 173
Status Not validated
Chromosome 2
Chromosomal Location 156038567-156151873 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 156149214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 964 (V964E)
Ref Sequence ENSEMBL: ENSMUSP00000043138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037401] [ENSMUST00000079125]
AlphaFold Q8BLG0
Predicted Effect probably damaging
Transcript: ENSMUST00000037401
AA Change: V964E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000043138
Gene: ENSMUSG00000038116
AA Change: V964E

DomainStartEndE-ValueType
TUDOR 11 71 5.27e0 SMART
TUDOR 85 141 7.13e-4 SMART
AT_hook 257 269 1.65e0 SMART
low complexity region 323 332 N/A INTRINSIC
ZnF_C2H2 455 480 1.86e0 SMART
low complexity region 486 493 N/A INTRINSIC
low complexity region 526 555 N/A INTRINSIC
low complexity region 612 630 N/A INTRINSIC
PHD 657 701 2.83e-4 SMART
coiled coil region 945 966 N/A INTRINSIC
low complexity region 974 987 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000079125
SMART Domains Protein: ENSMUSP00000105211
Gene: ENSMUSG00000046229

DomainStartEndE-ValueType
low complexity region 2 24 N/A INTRINSIC
low complexity region 27 48 N/A INTRINSIC
SCAN 67 141 1.89e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122814
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152617
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, decreased body size and total body fat amount, and abnormal skeletal and hematopoietic development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 C T 11: 110,170,216 (GRCm39) C1293Y probably benign Het
Adam8 T A 7: 139,565,794 (GRCm39) D611V probably damaging Het
Arhgap33 T C 7: 30,225,839 (GRCm39) T576A probably benign Het
Atf7 A T 15: 102,466,022 (GRCm39) probably null Het
Baiap3 T A 17: 25,466,489 (GRCm39) T464S probably benign Het
Ccdc40 T C 11: 119,136,906 (GRCm39) probably null Het
Celf2 T C 2: 6,558,598 (GRCm39) E430G probably damaging Het
Chia1 A G 3: 106,035,792 (GRCm39) T211A probably damaging Het
Ciz1 T C 2: 32,257,408 (GRCm39) F151S probably damaging Het
Dnm2 A G 9: 21,378,965 (GRCm39) T175A probably damaging Het
Doc2b A G 11: 75,663,364 (GRCm39) S363P probably damaging Het
Garem1 C T 18: 21,281,492 (GRCm39) R288H probably benign Het
Gpr132 G A 12: 112,816,416 (GRCm39) R137C probably damaging Het
Helz2 C A 2: 180,882,301 (GRCm39) C164F probably damaging Het
Itfg1 A T 8: 86,493,601 (GRCm39) S293T probably benign Het
Kcnn2 T A 18: 45,816,198 (GRCm39) D336E probably damaging Het
Kifc2 C T 15: 76,546,353 (GRCm39) A245V probably benign Het
Krt18 T A 15: 101,939,735 (GRCm39) I311N probably benign Het
Lypla1 T C 1: 4,900,517 (GRCm39) M7T possibly damaging Het
Mef2a T C 7: 66,901,416 (GRCm39) M285V possibly damaging Het
Micu1 A C 10: 59,663,128 (GRCm39) K353Q possibly damaging Het
Mpv17l A G 16: 13,760,013 (GRCm39) probably benign Het
Ntrk1 G A 3: 87,687,479 (GRCm39) R652W probably damaging Het
Or13a28 T A 7: 140,218,384 (GRCm39) F257I probably benign Het
Or13c7 T C 4: 43,855,152 (GRCm39) I281T probably benign Het
Or4c107 G A 2: 88,788,985 (GRCm39) M58I possibly damaging Het
Pcdh15 C A 10: 74,066,091 (GRCm39) T252K probably damaging Het
Pcsk5 T C 19: 17,434,193 (GRCm39) M1392V probably benign Het
Pira13 G A 7: 3,825,622 (GRCm39) L416F probably benign Het
Plcg2 T C 8: 118,325,234 (GRCm39) probably null Het
Rnf10 A T 5: 115,382,127 (GRCm39) C693S probably benign Het
Rnf19b A G 4: 128,952,617 (GRCm39) Y185C probably damaging Het
Ros1 G T 10: 51,999,385 (GRCm39) D1167E probably damaging Het
Sidt2 G A 9: 45,853,497 (GRCm39) S701L probably damaging Het
Slc66a2 C T 18: 80,306,658 (GRCm39) P76L probably damaging Het
Spag1 T C 15: 36,200,430 (GRCm39) I345T probably damaging Het
Srcap T A 7: 127,141,211 (GRCm39) S1603T possibly damaging Het
Stag1 T A 9: 100,678,831 (GRCm39) Y251N probably damaging Het
Stxbp5 T C 10: 9,776,330 (GRCm39) N33S probably benign Het
Tnrc6a T C 7: 122,769,299 (GRCm39) L363P probably damaging Het
U2surp C T 9: 95,361,357 (GRCm39) R591H possibly damaging Het
Usf3 A G 16: 44,041,109 (GRCm39) N1863S possibly damaging Het
Vmn2r15 T C 5: 109,434,806 (GRCm39) I633V possibly damaging Het
Zfp979 T C 4: 147,698,067 (GRCm39) D214G probably damaging Het
Other mutations in Phf20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00928:Phf20 APN 2 156,146,736 (GRCm39) critical splice donor site probably null
IGL01071:Phf20 APN 2 156,136,008 (GRCm39) splice site probably null
IGL01125:Phf20 APN 2 156,145,104 (GRCm39) splice site probably null
IGL01608:Phf20 APN 2 156,118,516 (GRCm39) missense probably benign
IGL01610:Phf20 APN 2 156,144,809 (GRCm39) nonsense probably null
IGL01845:Phf20 APN 2 156,118,577 (GRCm39) nonsense probably null
IGL02364:Phf20 APN 2 156,136,017 (GRCm39) missense possibly damaging 0.80
IGL02692:Phf20 APN 2 156,140,498 (GRCm39) missense probably damaging 1.00
IGL03039:Phf20 APN 2 156,140,461 (GRCm39) missense probably damaging 1.00
R0016:Phf20 UTSW 2 156,109,114 (GRCm39) nonsense probably null
R0189:Phf20 UTSW 2 156,145,061 (GRCm39) missense probably benign 0.02
R1532:Phf20 UTSW 2 156,144,969 (GRCm39) missense possibly damaging 0.89
R1572:Phf20 UTSW 2 156,129,754 (GRCm39) missense probably benign 0.17
R2007:Phf20 UTSW 2 156,129,874 (GRCm39) missense probably benign 0.00
R2191:Phf20 UTSW 2 156,118,574 (GRCm39) missense probably benign
R3011:Phf20 UTSW 2 156,129,946 (GRCm39) missense probably benign 0.32
R3024:Phf20 UTSW 2 156,129,787 (GRCm39) missense probably damaging 0.96
R4242:Phf20 UTSW 2 156,149,374 (GRCm39) unclassified probably benign
R5053:Phf20 UTSW 2 156,115,782 (GRCm39) missense probably benign 0.00
R5089:Phf20 UTSW 2 156,144,782 (GRCm39) missense probably benign
R5382:Phf20 UTSW 2 156,109,417 (GRCm39) missense probably damaging 1.00
R5649:Phf20 UTSW 2 156,093,688 (GRCm39) splice site probably null
R5707:Phf20 UTSW 2 156,138,691 (GRCm39) splice site probably null
R5751:Phf20 UTSW 2 156,109,261 (GRCm39) missense probably benign 0.01
R5988:Phf20 UTSW 2 156,149,250 (GRCm39) missense probably damaging 1.00
R6179:Phf20 UTSW 2 156,140,573 (GRCm39) missense probably damaging 1.00
R6243:Phf20 UTSW 2 156,065,320 (GRCm39) missense probably benign 0.16
R6338:Phf20 UTSW 2 156,115,606 (GRCm39) missense possibly damaging 0.93
R6351:Phf20 UTSW 2 156,136,130 (GRCm39) missense possibly damaging 0.91
R6584:Phf20 UTSW 2 156,136,043 (GRCm39) missense probably damaging 0.99
R7248:Phf20 UTSW 2 156,135,331 (GRCm39) splice site probably null
R7329:Phf20 UTSW 2 156,146,552 (GRCm39) missense probably damaging 0.96
R7387:Phf20 UTSW 2 156,136,160 (GRCm39) missense probably damaging 1.00
R7528:Phf20 UTSW 2 156,144,928 (GRCm39) nonsense probably null
R7603:Phf20 UTSW 2 156,144,771 (GRCm39) missense probably benign
R7698:Phf20 UTSW 2 156,136,058 (GRCm39) missense probably damaging 1.00
R7916:Phf20 UTSW 2 156,129,858 (GRCm39) missense probably damaging 0.96
R7968:Phf20 UTSW 2 156,135,464 (GRCm39) missense probably benign 0.00
R8415:Phf20 UTSW 2 156,129,913 (GRCm39) missense probably benign 0.07
R8843:Phf20 UTSW 2 156,144,843 (GRCm39) missense probably benign
R8849:Phf20 UTSW 2 156,118,440 (GRCm39) missense probably damaging 0.97
R9168:Phf20 UTSW 2 156,109,234 (GRCm39) missense probably benign 0.01
R9180:Phf20 UTSW 2 156,114,537 (GRCm39) missense probably benign 0.31
R9286:Phf20 UTSW 2 156,134,470 (GRCm39) missense probably damaging 0.98
R9297:Phf20 UTSW 2 156,115,690 (GRCm39) missense probably benign
R9318:Phf20 UTSW 2 156,115,690 (GRCm39) missense probably benign
R9414:Phf20 UTSW 2 156,136,167 (GRCm39) missense probably benign 0.38
RF011:Phf20 UTSW 2 156,146,541 (GRCm39) critical splice acceptor site probably benign
RF011:Phf20 UTSW 2 156,146,540 (GRCm39) critical splice acceptor site probably benign
RF028:Phf20 UTSW 2 156,146,543 (GRCm39) critical splice acceptor site probably benign
Z1190:Phf20 UTSW 2 156,129,979 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GAGCTGGTAAACGTCTCAAAGGC -3'
(R):5'- GCTCCAAATGTCTTGAGTGGC -3'

Sequencing Primer
(F):5'- GTATCCAACAGAAGCCTGCGG -3'
(R):5'- GCCAATTTCATGTCGAGCAG -3'
Posted On 2017-12-01