Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01845:Phf20'

178211

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phf20

Ensembl Gene

ENSMUSG00000038116

Gene Name

PHD finger protein 20

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

IGL01845

Quality Score

Status

Chromosome

Chromosomal Location

156196466-156309952 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 156276657 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 427 (S427*)

Ref Sequence

ENSEMBL: ENSMUSP00000043138 (fasta)

Gene Model

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

AlphaFold

Q8BLG0

Predicted Effect

probably null
Transcript: ENSMUST00000037401
AA Change: S427*

SMART Domains

Protein: ENSMUSP00000043138
Gene: ENSMUSG00000038116
AA Change: S427*

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: ENSMUST00000131479

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152617

Coding Region Coverage

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	T	C	17: 14,944,118	L169P	probably damaging	Het
4933405L10Rik	C	A	8: 105,708,935	A75E	probably benign	Het
Abca1	A	G	4: 53,090,297	L384P	probably damaging	Het
Acox2	C	A	14: 8,251,617	M293I	probably damaging	Het
Acp6	A	G	3: 97,173,807	S288G	probably benign	Het
Arhgef12	T	A	9: 43,022,841	H127L	possibly damaging	Het
Arid2	T	G	15: 96,356,797	F175V	probably damaging	Het
Ccdc15	G	A	9: 37,315,236	Q468*	probably null	Het
Ccdc93	T	C	1: 121,463,130	I277T	probably damaging	Het
Cdh8	T	C	8: 99,098,954		probably benign	Het
Cdipt	T	C	7: 126,979,553	S145P	possibly damaging	Het
Cfap206	T	C	4: 34,719,610	N268S	possibly damaging	Het
Clcn3	A	T	8: 60,913,095	N814K	probably benign	Het
Col6a3	T	C	1: 90,796,571	D2019G	probably damaging	Het
Corin	C	A	5: 72,353,939	G432C	probably damaging	Het
Cyld	C	T	8: 88,705,775	Q134*	probably null	Het
Dhh	C	A	15: 98,897,983	R97L	probably damaging	Het
Dnah5	T	C	15: 28,449,169	V4239A	probably benign	Het
Dock2	T	C	11: 34,708,865	I296V	probably benign	Het
Gabbr1	T	C	17: 37,048,414		probably benign	Het
Gbp10	T	C	5: 105,219,949		probably null	Het
Ispd	A	G	12: 36,547,919	R350G	probably benign	Het
Itgam	T	A	7: 128,112,472	L753Q	probably damaging	Het
Kbtbd12	A	G	6: 88,613,940	V430A	probably benign	Het
Kdm4a	A	G	4: 118,160,459	V470A	possibly damaging	Het
Larp1b	A	T	3: 40,970,525	T146S	probably benign	Het
Lrrfip2	T	A	9: 111,199,660		probably benign	Het
Mgea5	T	A	19: 45,767,862	E447D	probably benign	Het
Mier2	A	T	10: 79,549,584	C137S	possibly damaging	Het
Morc3	A	G	16: 93,860,567	Y393C	probably damaging	Het
Ms4a7	A	T	19: 11,322,387	M217K	possibly damaging	Het
Msl1	A	G	11: 98,805,365		probably null	Het
Myh2	A	G	11: 67,193,034	E1546G	probably benign	Het
Nlgn2	A	G	11: 69,825,849	L622P	possibly damaging	Het
Olfr1419	A	G	19: 11,870,524	S231P	probably benign	Het
Olfr181	T	C	16: 58,926,566	M2V	probably benign	Het
Olfr339	A	C	2: 36,422,093	K232Q	probably benign	Het
Olfr393	A	G	11: 73,847,472	Y218H	probably damaging	Het
Olfr504	T	A	7: 108,565,136	I220L	possibly damaging	Het
Pirt	G	A	11: 66,925,968	S35N	probably damaging	Het
Prss28	C	A	17: 25,310,037	N117K	possibly damaging	Het
Rbbp8nl	A	G	2: 180,283,311	C34R	probably damaging	Het
Rtn3	A	T	19: 7,457,876	D231E	probably damaging	Het
Sema5a	T	C	15: 32,474,368		probably benign	Het
Sh3bp2	T	A	5: 34,556,003	L196Q	probably damaging	Het
Slc26a9	G	T	1: 131,757,518	D325Y	probably damaging	Het
Slc4a1	A	G	11: 102,353,903	V622A	probably benign	Het
Thbd	A	G	2: 148,407,096	V284A	probably benign	Het
Tmc5	T	C	7: 118,652,510	F609L	possibly damaging	Het
Tnr	T	C	1: 159,868,006		probably benign	Het
Ttc17	A	T	2: 94,332,832	Y881*	probably null	Het
Ttc41	A	T	10: 86,776,624	T1254S	probably benign	Het
Ttn	C	T	2: 76,810,003	D13754N	probably damaging	Het
Vmn2r16	T	A	5: 109,363,896	F656L	probably damaging	Het
Wdr19	A	G	5: 65,225,366	I478V	probably damaging	Het
Zan	T	C	5: 137,380,854		probably benign	Het
Zp2	T	A	7: 120,138,191	D258V	probably damaging	Het

Other mutations in Phf20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00928:Phf20	APN	2	156304816	critical splice donor site	probably null
IGL01071:Phf20	APN	2	156294088	splice site	probably null
IGL01125:Phf20	APN	2	156303184	splice site	probably null
IGL01608:Phf20	APN	2	156276596	missense	probably benign
IGL01610:Phf20	APN	2	156302889	nonsense	probably null
IGL02364:Phf20	APN	2	156294097	missense	possibly damaging	0.80
IGL02692:Phf20	APN	2	156298578	missense	probably damaging	1.00
IGL03039:Phf20	APN	2	156298541	missense	probably damaging	1.00
R0016:Phf20	UTSW	2	156267194	nonsense	probably null
R0189:Phf20	UTSW	2	156303141	missense	probably benign	0.02
R1532:Phf20	UTSW	2	156303049	missense	possibly damaging	0.89
R1572:Phf20	UTSW	2	156287834	missense	probably benign	0.17
R2007:Phf20	UTSW	2	156287954	missense	probably benign	0.00
R2191:Phf20	UTSW	2	156276654	missense	probably benign
R3011:Phf20	UTSW	2	156288026	missense	probably benign	0.32
R3024:Phf20	UTSW	2	156287867	missense	probably damaging	0.96
R4242:Phf20	UTSW	2	156307454	unclassified	probably benign
R5053:Phf20	UTSW	2	156273862	missense	probably benign	0.00
R5089:Phf20	UTSW	2	156302862	missense	probably benign
R5382:Phf20	UTSW	2	156267497	missense	probably damaging	1.00
R5649:Phf20	UTSW	2	156251768	splice site	probably null
R5707:Phf20	UTSW	2	156296771	splice site	probably null
R5751:Phf20	UTSW	2	156267341	missense	probably benign	0.01
R5805:Phf20	UTSW	2	156307294	missense	probably damaging	0.99
R5988:Phf20	UTSW	2	156307330	missense	probably damaging	1.00
R6179:Phf20	UTSW	2	156298653	missense	probably damaging	1.00
R6243:Phf20	UTSW	2	156223400	missense	probably benign	0.16
R6338:Phf20	UTSW	2	156273686	missense	possibly damaging	0.93
R6351:Phf20	UTSW	2	156294210	missense	possibly damaging	0.91
R6584:Phf20	UTSW	2	156294123	missense	probably damaging	0.99
R7248:Phf20	UTSW	2	156293411	splice site	probably null
R7329:Phf20	UTSW	2	156304632	missense	probably damaging	0.96
R7387:Phf20	UTSW	2	156294240	missense	probably damaging	1.00
R7528:Phf20	UTSW	2	156303008	nonsense	probably null
R7603:Phf20	UTSW	2	156302851	missense	probably benign
R7698:Phf20	UTSW	2	156294138	missense	probably damaging	1.00
R7916:Phf20	UTSW	2	156287938	missense	probably damaging	0.96
R7968:Phf20	UTSW	2	156293544	missense	probably benign	0.00
R8415:Phf20	UTSW	2	156287993	missense	probably benign	0.07
R8843:Phf20	UTSW	2	156302923	missense	probably benign
R8849:Phf20	UTSW	2	156276520	missense	probably damaging	0.97
R9168:Phf20	UTSW	2	156267314	missense	probably benign	0.01
R9180:Phf20	UTSW	2	156272617	missense	probably benign	0.31
R9286:Phf20	UTSW	2	156292550	missense	probably damaging	0.98
R9297:Phf20	UTSW	2	156273770	missense	probably benign
R9318:Phf20	UTSW	2	156273770	missense	probably benign
R9414:Phf20	UTSW	2	156294247	missense	probably benign	0.38
RF011:Phf20	UTSW	2	156304620	critical splice acceptor site	probably benign
RF011:Phf20	UTSW	2	156304621	critical splice acceptor site	probably benign
RF028:Phf20	UTSW	2	156304623	critical splice acceptor site	probably benign
Z1190:Phf20	UTSW	2	156288059	missense	probably damaging	0.99

Posted On

2014-05-07