Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02688:Phf2'

303623

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phf2

Ensembl Gene

ENSMUSG00000038025

Gene Name

PHD finger protein 2

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.345) question?

Stock #

IGL02688

Quality Score

Status

Chromosome

Chromosomal Location

48955226-49024361 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 48959315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 897 (P897Q)

Ref Sequence

ENSEMBL: ENSMUSP00000047308 (fasta)

Gene Model

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

AlphaFold

Q9WTU0

Predicted Effect

unknown
Transcript: ENSMUST00000035540
AA Change: P897Q

SMART Domains

Protein: ENSMUSP00000047308
Gene: ENSMUSG00000038025
AA Change: P897Q

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	C	A	8: 41,279,357 (GRCm39)	R583S	probably benign	Het
Bcl9l	C	T	9: 44,416,560 (GRCm39)	T211I	possibly damaging	Het
C6	A	G	15: 4,827,802 (GRCm39)	I724V	probably benign	Het
Cacna2d4	T	A	6: 119,247,710 (GRCm39)		probably null	Het
Casp4	A	G	9: 5,322,844 (GRCm39)	E40G	possibly damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Dnah7a	A	C	1: 53,483,631 (GRCm39)	M3382R	possibly damaging	Het
Dst	T	C	1: 34,235,033 (GRCm39)	L3526P	probably damaging	Het
Eya4	A	G	10: 23,035,008 (GRCm39)	S116P	probably benign	Het
Gabra4	T	A	5: 71,729,510 (GRCm39)	E423D	probably benign	Het
Ighv1-67	T	G	12: 115,567,643 (GRCm39)	T90P	probably damaging	Het
Kcnh8	A	G	17: 53,266,471 (GRCm39)	T828A	probably benign	Het
Nr5a2	A	G	1: 136,868,145 (GRCm39)		probably null	Het
Nup214	C	T	2: 31,921,287 (GRCm39)	P1237S	probably benign	Het
Phactr3	A	G	2: 177,920,792 (GRCm39)	D215G	probably damaging	Het
Pla2r1	T	C	2: 60,285,545 (GRCm39)	R690G	probably damaging	Het
Ppargc1b	A	G	18: 61,445,314 (GRCm39)	S181P	possibly damaging	Het
Sele	A	T	1: 163,877,699 (GRCm39)	I165F	probably damaging	Het
Srcap	T	C	7: 127,141,625 (GRCm39)	S1626P	probably benign	Het
Tenm2	A	G	11: 35,959,285 (GRCm39)	I1088T	probably benign	Het
Tnrc18	T	C	5: 142,775,927 (GRCm39)	S69G	probably damaging	Het
Trmt5	C	A	12: 73,328,232 (GRCm39)	E324*	probably null	Het
Ttll3	T	C	6: 113,376,700 (GRCm39)	I360T	probably benign	Het
Zfp277	A	G	12: 40,378,687 (GRCm39)	V390A	possibly damaging	Het

Other mutations in Phf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01146:Phf2	APN	13	48,973,083 (GRCm39)	missense	unknown
IGL01554:Phf2	APN	13	48,959,355 (GRCm39)	nonsense	probably null
IGL02063:Phf2	APN	13	48,975,118 (GRCm39)	missense	unknown
IGL02456:Phf2	APN	13	48,982,322 (GRCm39)	missense	unknown
IGL02498:Phf2	APN	13	48,958,715 (GRCm39)	missense	unknown
IGL02586:Phf2	APN	13	48,967,334 (GRCm39)	splice site	probably benign
H8441:Phf2	UTSW	13	48,957,841 (GRCm39)	missense	possibly damaging	0.67
R0265:Phf2	UTSW	13	48,982,270 (GRCm39)	missense	unknown
R0389:Phf2	UTSW	13	48,957,965 (GRCm39)	missense	unknown
R0535:Phf2	UTSW	13	48,967,423 (GRCm39)	missense	unknown
R1162:Phf2	UTSW	13	48,973,117 (GRCm39)	splice site	probably benign
R1342:Phf2	UTSW	13	48,957,953 (GRCm39)	missense	unknown
R1551:Phf2	UTSW	13	48,985,579 (GRCm39)	missense	unknown
R1551:Phf2	UTSW	13	48,957,079 (GRCm39)	missense	probably damaging	1.00
R1567:Phf2	UTSW	13	48,985,589 (GRCm39)	missense	unknown
R1698:Phf2	UTSW	13	48,961,106 (GRCm39)	missense	unknown
R1766:Phf2	UTSW	13	48,973,033 (GRCm39)	missense	unknown
R1785:Phf2	UTSW	13	48,971,043 (GRCm39)	missense	unknown
R1997:Phf2	UTSW	13	48,982,384 (GRCm39)	missense	unknown
R2034:Phf2	UTSW	13	48,971,206 (GRCm39)	missense	unknown
R2096:Phf2	UTSW	13	48,985,589 (GRCm39)	nonsense	probably null
R2147:Phf2	UTSW	13	48,958,165 (GRCm39)	missense	unknown
R2149:Phf2	UTSW	13	48,958,165 (GRCm39)	missense	unknown
R2154:Phf2	UTSW	13	48,973,549 (GRCm39)	missense	unknown
R2296:Phf2	UTSW	13	48,988,754 (GRCm39)	missense	unknown
R4212:Phf2	UTSW	13	48,974,089 (GRCm39)	missense	unknown
R4749:Phf2	UTSW	13	48,975,185 (GRCm39)	splice site	probably null
R4770:Phf2	UTSW	13	48,957,079 (GRCm39)	missense	probably damaging	1.00
R4948:Phf2	UTSW	13	48,961,198 (GRCm39)	missense	unknown
R4989:Phf2	UTSW	13	48,961,320 (GRCm39)	missense	unknown
R5792:Phf2	UTSW	13	48,973,518 (GRCm39)	splice site	probably null
R5848:Phf2	UTSW	13	48,973,546 (GRCm39)	missense	unknown
R6092:Phf2	UTSW	13	48,969,533 (GRCm39)	missense	unknown
R6165:Phf2	UTSW	13	48,967,341 (GRCm39)	critical splice donor site	probably null
R6192:Phf2	UTSW	13	48,973,583 (GRCm39)	missense	unknown
R6237:Phf2	UTSW	13	48,957,131 (GRCm39)	nonsense	probably null
R6249:Phf2	UTSW	13	48,959,348 (GRCm39)	missense	unknown
R6489:Phf2	UTSW	13	48,979,658 (GRCm39)	missense	unknown
R7616:Phf2	UTSW	13	48,961,083 (GRCm39)	missense	unknown
R8058:Phf2	UTSW	13	48,976,558 (GRCm39)	missense	unknown
R8158:Phf2	UTSW	13	48,971,236 (GRCm39)	missense	probably benign	0.23
R8186:Phf2	UTSW	13	48,961,227 (GRCm39)	missense	unknown
R8218:Phf2	UTSW	13	48,958,104 (GRCm39)	missense	unknown
R8237:Phf2	UTSW	13	48,976,514 (GRCm39)	missense	unknown
R8431:Phf2	UTSW	13	48,975,078 (GRCm39)	missense	unknown
R8496:Phf2	UTSW	13	48,971,181 (GRCm39)	missense	unknown
R8774:Phf2	UTSW	13	48,971,878 (GRCm39)	splice site	probably benign
R8786:Phf2	UTSW	13	48,967,219 (GRCm39)	missense	unknown
R8792:Phf2	UTSW	13	48,970,981 (GRCm39)	critical splice donor site	probably benign
R9505:Phf2	UTSW	13	48,957,134 (GRCm39)	missense	probably damaging	1.00
R9632:Phf2	UTSW	13	48,971,292 (GRCm39)	missense	unknown
R9644:Phf2	UTSW	13	49,024,218 (GRCm39)	nonsense	probably null
R9704:Phf2	UTSW	13	48,959,374 (GRCm39)	missense	unknown
R9778:Phf2	UTSW	13	48,973,101 (GRCm39)	missense	unknown
V1024:Phf2	UTSW	13	48,957,841 (GRCm39)	missense	possibly damaging	0.67
X0027:Phf2	UTSW	13	48,985,594 (GRCm39)	missense	unknown
Z1176:Phf2	UTSW	13	48,961,183 (GRCm39)	missense	unknown
Z1177:Phf2	UTSW	13	48,958,069 (GRCm39)	missense	unknown

Posted On

2015-04-16