Mutagenetix > Incidental Mutation

Incidental Mutation 'R3024:Phf20'

265769

Institutional Source

Beutler Lab

Gene Symbol

Phf20

Ensembl Gene

ENSMUSG00000038116

Gene Name

PHD finger protein 20

Synonyms

6820402O20Rik

MMRRC Submission

040540-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R3024 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

156038567-156151873 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 156129787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 453 (H453R)

Ref Sequence

ENSEMBL: ENSMUSP00000043138 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037401]

AlphaFold

Q8BLG0

Predicted Effect

probably damaging
Transcript: ENSMUST00000037401
AA Change: H453R

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000043138
Gene: ENSMUSG00000038116
AA Change: H453R

Domain	Start	End	E-Value	Type
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: ENSMUST00000147234

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152617

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef37	T	C	18: 61,634,959 (GRCm39)	E461G	probably damaging	Het
Bfsp1	A	T	2: 143,687,879 (GRCm39)	V182D	probably benign	Het
Birc6	T	C	17: 74,915,214 (GRCm39)	S1635P	possibly damaging	Het
Chil6	T	C	3: 106,296,086 (GRCm39)	D383G	probably damaging	Het
Itpr2	G	A	6: 146,081,808 (GRCm39)	A175V	probably benign	Het
Kcnh7	G	T	2: 62,595,007 (GRCm39)	R688S	probably damaging	Het
Krt6a	A	T	15: 101,599,724 (GRCm39)	C463S	probably benign	Het
Ksr2	T	A	5: 117,693,125 (GRCm39)	I191N	possibly damaging	Het
Lyst	T	C	13: 13,833,272 (GRCm39)	V1698A	probably benign	Het
Or12d13	A	T	17: 37,647,918 (GRCm39)	D68E	probably damaging	Het
Or4c127	A	T	2: 89,833,584 (GRCm39)	N278I	probably damaging	Het
Pappa2	C	T	1: 158,763,795 (GRCm39)	R572Q	probably benign	Het
Pes1	CGGAGGAGGAGGAGGAGGAGGAGG	CGGAGGAGGAGGAGGAGGAGG	11: 3,927,719 (GRCm39)		probably benign	Het
Prex1	G	T	2: 166,430,956 (GRCm39)	H615Q	probably benign	Het
Slc25a54	T	A	3: 108,987,982 (GRCm39)	I41N	probably damaging	Het
Slc35f5	A	G	1: 125,496,335 (GRCm39)	S157G	probably benign	Het
Sstr3	G	A	15: 78,424,187 (GRCm39)	R187W	probably damaging	Het
Trim41	T	C	11: 48,698,985 (GRCm39)	K420E	possibly damaging	Het
Tsnaxip1	A	G	8: 106,568,375 (GRCm39)	Y353C	probably damaging	Het
Vmn1r238	T	C	18: 3,123,305 (GRCm39)	I36M	probably benign	Het
Xylt1	T	A	7: 117,147,883 (GRCm39)	V149D	probably damaging	Het
Zfpm2	G	A	15: 40,966,355 (GRCm39)	E815K	probably benign	Het

Other mutations in Phf20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TCTCTCCAAACAGTGCTTTGG -3'
(R):5'- TGGCTTGTCTTGTCAGGCAC -3'

Sequencing Primer
(F):5'- ATGTCTCAGGCAGTGTGAACC -3'
(R):5'- TCTTGTCAGGCACCGCAGAG -3'

Posted On

2015-02-05