Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01146:Phf2'

52617

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: 0.294) question?

Stock #

IGL01146

Quality Score

Status

Chromosome

Chromosomal Location

48955226-49024361 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48973083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 391 (L391Q)

Ref Sequence

ENSEMBL: ENSMUSP00000047308 (fasta)

Gene Model

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

AlphaFold

Q9WTU0

Predicted Effect

unknown
Transcript: ENSMUST00000035540
AA Change: L391Q

SMART Domains

Protein: ENSMUSP00000047308
Gene: ENSMUSG00000038025
AA Change: L391Q

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	T	C	6: 40,943,217 (GRCm39)	I54T	probably damaging	Het
Acss2	T	C	2: 155,403,957 (GRCm39)	V701A	possibly damaging	Het
Adam6a	A	T	12: 113,507,840 (GRCm39)	Y71F	probably damaging	Het
Arhgef37	A	T	18: 61,651,081 (GRCm39)	I148N	possibly damaging	Het
Bhlhe40	T	C	6: 108,641,901 (GRCm39)	S282P	possibly damaging	Het
Bmp2	A	T	2: 133,403,220 (GRCm39)	Q257L	probably benign	Het
C2cd4d	A	G	3: 94,271,770 (GRCm39)		probably benign	Het
Calcr	T	A	6: 3,700,144 (GRCm39)	Y316F	possibly damaging	Het
Ccdc186	T	C	19: 56,797,749 (GRCm39)	E274G	probably damaging	Het
Cdc34b	G	T	11: 94,633,420 (GRCm39)	D207Y	probably benign	Het
Chst5	C	T	8: 112,617,314 (GRCm39)	C102Y	probably damaging	Het
Cnbd2	T	A	2: 156,154,534 (GRCm39)		probably benign	Het
Dnaaf9	C	T	2: 130,612,591 (GRCm39)		probably null	Het
Dnm1l	T	C	16: 16,132,189 (GRCm39)	D549G	probably benign	Het
Gm4847	T	A	1: 166,462,521 (GRCm39)	D323V	probably damaging	Het
Gm9843	G	A	16: 76,200,255 (GRCm39)		noncoding transcript	Het
Gopc	A	G	10: 52,234,963 (GRCm39)	V120A	probably benign	Het
Kmt2c	T	G	5: 25,513,510 (GRCm39)	M3095L	probably damaging	Het
Man1a	T	C	10: 53,783,615 (GRCm39)	E629G	possibly damaging	Het
Pde4b	T	A	4: 102,112,460 (GRCm39)	S12T	possibly damaging	Het
Phf8-ps	A	G	17: 33,284,357 (GRCm39)	L815S	possibly damaging	Het
Plekha7	G	A	7: 115,756,708 (GRCm39)		probably benign	Het
Pmpcb	T	A	5: 21,945,476 (GRCm39)		probably benign	Het
Poc1a	T	C	9: 106,182,503 (GRCm39)	Y285H	probably benign	Het
Polr1e	T	C	4: 45,031,369 (GRCm39)	L387S	probably damaging	Het
Prr9	A	T	3: 92,030,504 (GRCm39)	C45*	probably null	Het
Rnf157	T	C	11: 116,240,912 (GRCm39)	H393R	probably benign	Het
Rps6ka4	A	G	19: 6,808,496 (GRCm39)	F554L	probably damaging	Het
Sez6l	A	G	5: 112,576,275 (GRCm39)	S861P	probably damaging	Het
Sh3tc2	G	T	18: 62,122,582 (GRCm39)	D448Y	probably damaging	Het
Smg6	T	G	11: 74,821,254 (GRCm39)	Y508*	probably null	Het
Sult6b2	C	T	6: 142,750,034 (GRCm39)	G28D	probably benign	Het
Traf2	C	A	2: 25,414,931 (GRCm39)	C303F	probably benign	Het

Other mutations in Phf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02688:Phf2	APN	13	48,959,315 (GRCm39)	missense	unknown
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

2013-06-21