Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02456:Phf2'

294180

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phf2

Ensembl Gene

ENSMUSG00000038025

Gene Name

PHD finger protein 2

Synonyms

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.538) question?

Stock #

IGL02456

Quality Score

Status

Chromosome

Chromosomal Location

48801750-48871119 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 48828846 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 134 (G134C)

Ref Sequence

ENSEMBL: ENSMUSP00000047308 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035540]

Predicted Effect

unknown
Transcript: ENSMUST00000035540
AA Change: G134C

SMART Domains

Protein: ENSMUSP00000047308
Gene: ENSMUSG00000038025
AA Change: G134C

Domain	Start	End	E-Value	Type
PHD	7	54	1.08e-9	SMART
JmjC	197	353	1.98e-47	SMART
low complexity region	468	481	N/A	INTRINSIC
low complexity region	487	532	N/A	INTRINSIC
low complexity region	884	891	N/A	INTRINSIC
coiled coil region	924	948	N/A	INTRINSIC
low complexity region	953	1021	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a zinc finger-like PHD (plant homeodomain) finger, distinct from other classes of zinc finger motifs, and a hydrophobic and highly conserved domain. The PHD finger shows the typical Cys4-His-Cys3 arrangement. PHD finger genes are thought to belong to a diverse group of transcriptional regulators possibly affecting eukaryotic gene expression by influencing chromatin structure. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial postnatal lethality, decreased body weight, decreased adipocity and impaired adipogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	A	18: 38,261,124	L458Q	probably damaging	Het
4921511C20Rik	T	A	X: 127,394,961	Y174*	probably null	Het
Apc	C	A	18: 34,313,882	S1243*	probably null	Het
Atp8b5	A	G	4: 43,365,578	T731A	probably benign	Het
Bcl2a1c	T	A	9: 114,330,390	F79I	probably damaging	Het
Brip1	G	T	11: 86,065,099	L863I	possibly damaging	Het
Cbx4	T	A	11: 119,082,112	K146*	probably null	Het
Ccdc36	G	T	9: 108,406,621	T208K	probably benign	Het
Ces1a	C	T	8: 93,039,498	V163I	possibly damaging	Het
Ces5a	C	T	8: 93,528,644		probably benign	Het
Cfhr1	A	C	1: 139,556,393	N128K	possibly damaging	Het
Clcn3	T	C	8: 60,941,357	D46G	probably damaging	Het
Cntnap1	T	G	11: 101,178,129	I166S	probably benign	Het
Cntnap3	A	T	13: 64,799,058		probably benign	Het
Cntnap5c	T	A	17: 58,407,744		probably benign	Het
Ddx23	A	T	15: 98,647,549	V626E	probably damaging	Het
Gcm2	T	C	13: 41,103,001	Y424C	probably benign	Het
Gm9964	A	G	11: 79,296,370	F84L	probably damaging	Het
Grn	T	A	11: 102,436,104	D509E	probably benign	Het
Kdm5c	G	A	X: 152,246,318	D343N	probably damaging	Het
Ly75	C	T	2: 60,293,781	M1717I	probably benign	Het
Map1a	C	A	2: 121,298,653	P133T	probably damaging	Het
Mpp2	C	A	11: 102,059,373	A552S	possibly damaging	Het
Mtr	T	C	13: 12,199,094	I897M	probably damaging	Het
Npas3	A	T	12: 54,048,767	I337F	probably damaging	Het
Nup85	T	C	11: 115,581,865		probably benign	Het
Olfr118	T	A	17: 37,672,449	M142K	possibly damaging	Het
Olfr325	T	A	11: 58,581,198	L118H	possibly damaging	Het
Olfr517	A	G	7: 108,869,050	Y35H	probably benign	Het
Olfr630	T	A	7: 103,755,493	I31F	possibly damaging	Het
Olfr683	T	C	7: 105,143,759	N178S	probably damaging	Het
Pdia4	A	T	6: 47,803,495	D301E	probably benign	Het
Polr2h	T	A	16: 20,720,602	L76H	probably damaging	Het
Rbm47	G	A	5: 66,027,021	R80C	probably damaging	Het
Sfmbt1	T	C	14: 30,785,880	S286P	probably damaging	Het
Slc5a12	T	C	2: 110,616,834		probably benign	Het
Tacc2	T	C	7: 130,626,261	S1559P	probably benign	Het
Tbc1d16	T	G	11: 119,210,546	H46P	probably damaging	Het
Tbck	A	G	3: 132,734,714		probably benign	Het
Tmtc4	A	T	14: 122,925,962		probably null	Het
Ttc13	T	C	8: 124,690,361		probably null	Het
Ttc17	T	C	2: 94,362,785		probably benign	Het
Vmn1r121	T	A	7: 21,098,513	M1L	possibly damaging	Het
Vps13c	T	C	9: 67,952,976	S2825P	probably damaging	Het
Zan	A	C	5: 137,446,844	S1718A	unknown	Het
Zfp39	G	T	11: 58,902,800	Y37*	probably null	Het
Zfp407	T	C	18: 84,558,641	N1449S	probably damaging	Het
Zhx2	C	A	15: 57,823,639	D801E	possibly damaging	Het

Other mutations in Phf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01146:Phf2	APN	13	48819607	missense	unknown
IGL01554:Phf2	APN	13	48805879	nonsense	probably null
IGL02063:Phf2	APN	13	48821642	missense	unknown
IGL02498:Phf2	APN	13	48805239	missense	unknown
IGL02586:Phf2	APN	13	48813858	splice site	probably benign
IGL02688:Phf2	APN	13	48805839	missense	unknown
H8441:Phf2	UTSW	13	48804365	missense	possibly damaging	0.67
R0265:Phf2	UTSW	13	48828794	missense	unknown
R0389:Phf2	UTSW	13	48804489	missense	unknown
R0535:Phf2	UTSW	13	48813947	missense	unknown
R1162:Phf2	UTSW	13	48819641	splice site	probably benign
R1342:Phf2	UTSW	13	48804477	missense	unknown
R1551:Phf2	UTSW	13	48803603	missense	probably damaging	1.00
R1551:Phf2	UTSW	13	48832103	missense	unknown
R1567:Phf2	UTSW	13	48832113	missense	unknown
R1698:Phf2	UTSW	13	48807630	missense	unknown
R1766:Phf2	UTSW	13	48819557	missense	unknown
R1785:Phf2	UTSW	13	48817567	missense	unknown
R1997:Phf2	UTSW	13	48828908	missense	unknown
R2034:Phf2	UTSW	13	48817730	missense	unknown
R2096:Phf2	UTSW	13	48832113	nonsense	probably null
R2147:Phf2	UTSW	13	48804689	missense	unknown
R2149:Phf2	UTSW	13	48804689	missense	unknown
R2154:Phf2	UTSW	13	48820073	missense	unknown
R2296:Phf2	UTSW	13	48835278	missense	unknown
R4212:Phf2	UTSW	13	48820613	missense	unknown
R4749:Phf2	UTSW	13	48821709	splice site	probably null
R4770:Phf2	UTSW	13	48803603	missense	probably damaging	1.00
R4948:Phf2	UTSW	13	48807722	missense	unknown
R4989:Phf2	UTSW	13	48807844	missense	unknown
R5792:Phf2	UTSW	13	48820042	splice site	probably null
R5848:Phf2	UTSW	13	48820070	missense	unknown
R6092:Phf2	UTSW	13	48816057	missense	unknown
R6165:Phf2	UTSW	13	48813865	critical splice donor site	probably null
R6192:Phf2	UTSW	13	48820107	missense	unknown
R6237:Phf2	UTSW	13	48803655	nonsense	probably null
R6249:Phf2	UTSW	13	48805872	missense	unknown
R6489:Phf2	UTSW	13	48826182	missense	unknown
R7616:Phf2	UTSW	13	48807607	missense	unknown
R8058:Phf2	UTSW	13	48823082	missense	unknown
R8158:Phf2	UTSW	13	48817760	missense	probably benign	0.23
R8186:Phf2	UTSW	13	48807751	missense	unknown
R8218:Phf2	UTSW	13	48804628	missense	unknown
R8237:Phf2	UTSW	13	48823038	missense	unknown
R8431:Phf2	UTSW	13	48821602	missense	unknown
R8496:Phf2	UTSW	13	48817705	missense	unknown
V1024:Phf2	UTSW	13	48804365	missense	possibly damaging	0.67
X0027:Phf2	UTSW	13	48832118	missense	unknown
Z1176:Phf2	UTSW	13	48807707	missense	unknown
Z1177:Phf2	UTSW	13	48804593	missense	unknown

Posted On

2015-04-16