Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02252:Phf1'

286436

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phf1

Ensembl Gene

ENSMUSG00000024193

Gene Name

PHD finger protein 1

Synonyms

PHF2, Tctex3, Tctex-3, D17Ertd455e, mPcl1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02252

Quality Score

Status

Chromosome

Chromosomal Location

27152101-27156882 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27154109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 140 (V140D)

Ref Sequence

ENSEMBL: ENSMUSP00000073402 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025027] [ENSMUST00000073724] [ENSMUST00000078961] [ENSMUST00000114935]

AlphaFold

Q9Z1B8

Predicted Effect

probably benign
Transcript: ENSMUST00000025027

SMART Domains

Protein: ENSMUSP00000025027
Gene: ENSMUSG00000024194

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	45	60	N/A	INTRINSIC
Pfam:CutA1	67	165	6.9e-44	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073724
AA Change: V140D

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000073402
Gene: ENSMUSG00000024193
AA Change: V140D

Domain	Start	End	E-Value	Type
TUDOR	29	86	5.61e-11	SMART
PHD	89	140	2.81e-8	SMART
PHD	188	238	2.42e0	SMART
low complexity region	410	416	N/A	INTRINSIC
low complexity region	481	495	N/A	INTRINSIC
Pfam:Mtf2_C	523	557	7.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000078961

SMART Domains

Protein: ENSMUSP00000077984
Gene: ENSMUSG00000024301

Domain	Start	End	E-Value	Type
low complexity region	25	36	N/A	INTRINSIC
low complexity region	108	117	N/A	INTRINSIC
low complexity region	222	240	N/A	INTRINSIC
KISc	307	670	1.34e-143	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114935

SMART Domains

Protein: ENSMUSP00000110585
Gene: ENSMUSG00000024194

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:CutA1	43	144	1.7e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184739

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene belongs to the polycomb-like protein family, which is a component of polycomb repressive complex-2. This complex represses gene expression by catalyzing the trimethylation of histone H3 lysine 27 and is required for the regulation of developmental genes including homeotic genes. The gene is expressed primarily in testis tissue. Small interfering RNA-mediated knockdown in cultured cell lines results in changes in homeotic gene expression coincident with alterations in promoter methylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,444,678 (GRCm39)		probably benign	Het
Actl7b	A	T	4: 56,741,205 (GRCm39)	I51N	probably damaging	Het
Adamts12	A	G	15: 11,311,101 (GRCm39)	I1119M	probably benign	Het
Apol10a	T	A	15: 77,372,670 (GRCm39)	V102D	probably benign	Het
Atrx	T	C	X: 104,889,429 (GRCm39)	E1628G	possibly damaging	Het
Btnl2	C	T	17: 34,584,364 (GRCm39)	S429F	possibly damaging	Het
C4bp	C	A	1: 130,564,524 (GRCm39)	D387Y	probably damaging	Het
Ceacam23	G	T	7: 17,644,457 (GRCm39)	V525F	possibly damaging	Het
Crybg3	G	T	16: 59,372,887 (GRCm39)		probably benign	Het
Dcaf12	G	T	4: 41,294,085 (GRCm39)	H351N	probably benign	Het
Efcab3	C	A	11: 104,644,753 (GRCm39)	R1114S	possibly damaging	Het
Elp1	G	T	4: 56,759,813 (GRCm39)	Q1151K	probably benign	Het
Fign	A	G	2: 63,810,983 (GRCm39)	S96P	probably benign	Het
Ggt5	A	G	10: 75,438,566 (GRCm39)	I96V	possibly damaging	Het
Gm3238	A	G	10: 77,606,691 (GRCm39)		probably benign	Het
Gm4792	G	T	10: 94,131,102 (GRCm39)	P69Q	unknown	Het
Ighv1-58	A	T	12: 115,275,897 (GRCm39)	N80K	possibly damaging	Het
Irgm1	C	T	11: 48,756,981 (GRCm39)	G277S	possibly damaging	Het
Jsrp1	A	G	10: 80,644,707 (GRCm39)	V233A	probably benign	Het
Kcp	T	A	6: 29,504,548 (GRCm39)	R85W	probably damaging	Het
Kif14	T	C	1: 136,406,130 (GRCm39)	Y565H	probably damaging	Het
Klk1b4	G	A	7: 43,860,094 (GRCm39)	W69*	probably null	Het
Knl1	A	T	2: 118,903,021 (GRCm39)	Q1574L	probably damaging	Het
Lao1	A	G	4: 118,824,613 (GRCm39)	N232D	probably benign	Het
Lipn	A	G	19: 34,049,157 (GRCm39)	I108V	probably benign	Het
Lrrc49	T	A	9: 60,595,142 (GRCm39)	M1L	probably benign	Het
Matn2	G	T	15: 34,316,736 (GRCm39)	R26L	probably damaging	Het
Mmp16	G	A	4: 18,110,523 (GRCm39)	D440N	probably damaging	Het
Mn1	G	A	5: 111,569,107 (GRCm39)	A1026T	probably damaging	Het
Mrgpra1	A	T	7: 46,984,912 (GRCm39)	F256I	probably benign	Het
Msantd3	A	C	4: 48,560,869 (GRCm39)	E148D	probably benign	Het
Mylk3	G	T	8: 86,082,105 (GRCm39)	L361I	probably benign	Het
Nlrp12	A	G	7: 3,293,980 (GRCm39)	S117P	probably benign	Het
Nsmaf	T	C	4: 6,398,378 (GRCm39)	E870G	probably benign	Het
Oplah	T	C	15: 76,188,964 (GRCm39)	T320A	probably damaging	Het
Or5p50	C	A	7: 107,422,353 (GRCm39)	A108S	probably benign	Het
Or7g34	T	A	9: 19,478,267 (GRCm39)	I138F	probably damaging	Het
Pard3	T	G	8: 128,125,237 (GRCm39)	S729A	probably benign	Het
Pdzd9	T	C	7: 120,262,238 (GRCm39)	I75V	probably benign	Het
Pgf	A	G	12: 85,216,199 (GRCm39)		probably benign	Het
Pkd1l3	T	C	8: 110,357,708 (GRCm39)	S775P	possibly damaging	Het
Rhobtb1	A	T	10: 69,085,515 (GRCm39)	T85S	probably damaging	Het
Sez6	T	A	11: 77,865,339 (GRCm39)	Y659N	probably damaging	Het
Sfmbt1	T	C	14: 30,539,690 (GRCm39)	L826P	probably damaging	Het
Sftpd	T	A	14: 40,894,471 (GRCm39)	D316V	probably damaging	Het
Shc2	T	C	10: 79,462,204 (GRCm39)	D313G	probably benign	Het
Snrk	T	C	9: 121,986,326 (GRCm39)	Y232H	probably damaging	Het
Sntg1	G	T	1: 8,484,452 (GRCm39)	P456Q	probably benign	Het
Sorbs1	A	T	19: 40,302,841 (GRCm39)	N783K	probably damaging	Het
Stag3	A	T	5: 138,300,810 (GRCm39)	I923F	probably damaging	Het
Tep1	T	A	14: 51,067,712 (GRCm39)	H2168L	possibly damaging	Het
Tmem132c	A	T	5: 127,539,991 (GRCm39)	N339I	possibly damaging	Het
Trim34b	A	G	7: 103,979,139 (GRCm39)	T129A	probably damaging	Het
Ttc21a	T	C	9: 119,785,994 (GRCm39)	L664P	probably damaging	Het
Ubl5	C	T	9: 20,556,923 (GRCm39)	R56*	probably null	Het
Ubox5	G	A	2: 130,441,707 (GRCm39)	R327W	probably damaging	Het
Ubr5	G	T	15: 38,025,138 (GRCm39)	A546E	probably damaging	Het
Umodl1	T	C	17: 31,213,789 (GRCm39)		probably null	Het
Unc45a	T	C	7: 79,982,717 (GRCm39)		probably benign	Het
Vmn1r236	C	T	17: 21,507,101 (GRCm39)	T73I	probably benign	Het
Vmn2r67	T	G	7: 84,805,008 (GRCm39)	N35H	probably benign	Het
Vmn2r74	A	G	7: 85,606,531 (GRCm39)	Y272H	probably benign	Het
Wdr43	T	A	17: 71,933,845 (GRCm39)	D147E	probably damaging	Het
Zfp352	A	T	4: 90,112,367 (GRCm39)	D169V	probably benign	Het
Zim1	A	T	7: 6,691,627 (GRCm39)	N15K	unknown	Het

Other mutations in Phf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00905:Phf1	APN	17	27,155,568 (GRCm39)	missense	possibly damaging	0.90
IGL01629:Phf1	APN	17	27,153,247 (GRCm39)	missense	probably benign	0.07
IGL01931:Phf1	APN	17	27,154,509 (GRCm39)	unclassified	probably benign
IGL02008:Phf1	APN	17	27,154,260 (GRCm39)	missense	possibly damaging	0.95
IGL02048:Phf1	APN	17	27,153,515 (GRCm39)	unclassified	probably benign
IGL02206:Phf1	APN	17	27,155,843 (GRCm39)	unclassified	probably benign
IGL02548:Phf1	APN	17	27,154,600 (GRCm39)	missense	probably damaging	1.00
IGL03145:Phf1	APN	17	27,153,344 (GRCm39)	critical splice donor site	probably null
R0539:Phf1	UTSW	17	27,153,432 (GRCm39)	splice site	probably null
R0815:Phf1	UTSW	17	27,156,114 (GRCm39)	unclassified	probably benign
R0863:Phf1	UTSW	17	27,156,114 (GRCm39)	unclassified	probably benign
R1028:Phf1	UTSW	17	27,153,307 (GRCm39)	missense	possibly damaging	0.90
R1083:Phf1	UTSW	17	27,156,244 (GRCm39)	unclassified	probably benign
R1537:Phf1	UTSW	17	27,154,372 (GRCm39)	critical splice donor site	probably null
R1587:Phf1	UTSW	17	27,156,466 (GRCm39)	missense	probably damaging	0.99
R1656:Phf1	UTSW	17	27,156,333 (GRCm39)	missense	possibly damaging	0.93
R1956:Phf1	UTSW	17	27,154,719 (GRCm39)	splice site	probably null
R2566:Phf1	UTSW	17	27,156,062 (GRCm39)	missense	probably damaging	1.00
R3196:Phf1	UTSW	17	27,153,429 (GRCm39)	missense	probably damaging	1.00
R4223:Phf1	UTSW	17	27,156,474 (GRCm39)	nonsense	probably null
R4835:Phf1	UTSW	17	27,153,652 (GRCm39)	missense	probably benign
R6439:Phf1	UTSW	17	27,155,586 (GRCm39)	missense	probably benign
R7070:Phf1	UTSW	17	27,153,307 (GRCm39)	missense	possibly damaging	0.90
R7289:Phf1	UTSW	17	27,154,289 (GRCm39)	missense	probably damaging	1.00
R7846:Phf1	UTSW	17	27,154,291 (GRCm39)	nonsense	probably null
R8165:Phf1	UTSW	17	27,156,044 (GRCm39)	missense	possibly damaging	0.95
R9645:Phf1	UTSW	17	27,154,130 (GRCm39)	critical splice donor site	probably null
X0028:Phf1	UTSW	17	27,155,162 (GRCm39)	missense	possibly damaging	0.95

Posted On

2015-04-16