Incidental Mutation 'R6584:Phf20'
ID 524260
Institutional Source Beutler Lab
Gene Symbol Phf20
Ensembl Gene ENSMUSG00000038116
Gene Name PHD finger protein 20
Synonyms 6820402O20Rik
MMRRC Submission 044708-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.909) question?
Stock # R6584 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 156038567-156151873 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 156136043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 621 (S621P)
Ref Sequence ENSEMBL: ENSMUSP00000043138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037401]
AlphaFold Q8BLG0
Predicted Effect probably damaging
Transcript: ENSMUST00000037401
AA Change: S621P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043138
Gene: ENSMUSG00000038116
AA Change: S621P

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 noncoding transcript
Transcript: ENSMUST00000122814
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132352
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147234
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147242
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152617
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agr2 G A 12: 36,045,625 (GRCm39) R37Q probably benign Het
Amfr T C 8: 94,700,783 (GRCm39) D559G probably benign Het
Atg2b T C 12: 105,624,254 (GRCm39) Y711C probably damaging Het
Brd10 T C 19: 29,696,128 (GRCm39) N1122D possibly damaging Het
Clgn T C 8: 84,126,665 (GRCm39) I122T probably benign Het
Ets1 T A 9: 32,645,293 (GRCm39) F180Y probably damaging Het
Fbxw14 C G 9: 109,115,611 (GRCm39) C53S possibly damaging Het
Ifna9 A G 4: 88,510,375 (GRCm39) L83P probably damaging Het
Igf2r A G 17: 12,920,137 (GRCm39) C1401R probably damaging Het
Il22 A T 10: 118,040,932 (GRCm39) M13L probably benign Het
Il9r A G 11: 32,141,782 (GRCm39) Y319H probably benign Het
Itgb5 T C 16: 33,705,400 (GRCm39) F230S probably damaging Het
Klk1b27 T A 7: 43,703,935 (GRCm39) I26N possibly damaging Het
Lrba C T 3: 86,571,883 (GRCm39) R300C probably damaging Het
Map3k4 A C 17: 12,479,378 (GRCm39) Y730D probably damaging Het
Ogfrl1 T G 1: 23,408,944 (GRCm39) K427N probably benign Het
Or1o1 G A 17: 37,716,796 (GRCm39) R119H probably benign Het
Paxip1 G A 5: 27,963,450 (GRCm39) H792Y probably damaging Het
Pramel22 T A 4: 143,382,040 (GRCm39) T219S possibly damaging Het
Slitrk3 C A 3: 72,956,558 (GRCm39) G738V probably damaging Het
Smurf1 T C 5: 144,819,333 (GRCm39) D598G probably damaging Het
St6galnac2 A G 11: 116,585,330 (GRCm39) S19P probably benign Het
Stra6l G A 4: 45,869,635 (GRCm39) probably null Het
Tbc1d9 C A 8: 83,987,629 (GRCm39) Q863K probably damaging Het
Traf1 T A 2: 34,848,070 (GRCm39) D8V probably damaging Het
Vmn2r24 T G 6: 123,792,764 (GRCm39) M697R possibly damaging Het
Wdr27 T A 17: 15,122,031 (GRCm39) Y625F probably damaging Het
Wdr49 T C 3: 75,245,065 (GRCm39) M339V probably benign 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
R5805:Phf20 UTSW 2 156,149,214 (GRCm39) missense probably damaging 0.99
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
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'- CAGTGAAGTGGGGACATTCG -3'
(R):5'- CTGTGTTCTGGAAACTACTTGC -3'

Sequencing Primer
(F):5'- CAGCAGGCATCATTTGAGCTG -3'
(R):5'- CTGGAAACTACTTGCCTGAATC -3'
Posted On 2018-06-22