Mutagenetix > Incidental Mutation

Incidental Mutation 'R1562:Phf10'

170713

Institutional Source

Beutler Lab

Gene Symbol

Phf10

Ensembl Gene

ENSMUSG00000023883

Gene Name

PHD finger protein 10

Synonyms

1810055P05Rik, Baf45a

MMRRC Submission

039601-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1562 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15165271-15181535 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15166512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 453 (C453S)

Ref Sequence

ENSEMBL: ENSMUSP00000024657 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024657] [ENSMUST00000052691] [ENSMUST00000164837] [ENSMUST00000168938] [ENSMUST00000174004] [ENSMUST00000228330]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000024657
AA Change: C453S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024657
Gene: ENSMUSG00000023883
AA Change: C453S

Domain	Start	End	E-Value	Type
low complexity region	2	9	N/A	INTRINSIC
low complexity region	44	55	N/A	INTRINSIC
low complexity region	200	207	N/A	INTRINSIC
low complexity region	281	310	N/A	INTRINSIC
PHD	378	433	1.22e-8	SMART
PHD	434	478	2.44e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000052691

SMART Domains

Protein: ENSMUSP00000093344
Gene: ENSMUSG00000050088

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	150	166	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164837

SMART Domains

Protein: ENSMUSP00000125970
Gene: ENSMUSG00000050088

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	150	166	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168938

SMART Domains

Protein: ENSMUSP00000125917
Gene: ENSMUSG00000023883

Domain	Start	End	E-Value	Type
low complexity region	2	9	N/A	INTRINSIC
low complexity region	44	55	N/A	INTRINSIC
low complexity region	200	207	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171526

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172650

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174163

Predicted Effect

probably benign
Transcript: ENSMUST00000174004

SMART Domains

Protein: ENSMUSP00000133628
Gene: ENSMUSG00000050088

Domain	Start	End	E-Value	Type
Pfam:UPF0669	1	185	7e-111	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227673

Predicted Effect

probably benign
Transcript: ENSMUST00000228330

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene contains a predicted ORF that encodes a protein with two zinc finger domains. The function of the encoded protein is not known. Sequence analysis suggests that multiple alternatively spliced transcript variants are derived from this gene but the full-length nature of only two of them is known. These two splice variants encode different isoforms. A pseudogene for this gene is located on Xq28. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a floxed allele are viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,336,331 (GRCm39)	I2201V	probably benign	Het
Adam22	T	C	5: 8,145,007 (GRCm39)	N817S	probably damaging	Het
Alox12	C	A	11: 70,140,991 (GRCm39)	R348L	probably damaging	Het
Asb17	A	T	3: 153,559,143 (GRCm39)	T285S	probably benign	Het
Casp4	T	C	9: 5,324,733 (GRCm39)	S182P	possibly damaging	Het
Cenpe	T	C	3: 134,944,155 (GRCm39)	M985T	possibly damaging	Het
Clcn1	C	T	6: 42,277,169 (GRCm39)	P420L	probably benign	Het
Coro2a	T	C	4: 46,548,917 (GRCm39)	I126V	probably benign	Het
Cubn	T	C	2: 13,432,778 (GRCm39)	Y1181C	probably damaging	Het
Cyp2d22	A	T	15: 82,258,179 (GRCm39)	L147Q	probably damaging	Het
Dna2	C	T	10: 62,784,966 (GRCm39)	R28W	probably benign	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Fat2	T	C	11: 55,200,800 (GRCm39)	N758S	probably damaging	Het
Fbxo43	T	C	15: 36,163,162 (GRCm39)	D15G	probably damaging	Het
Flt3	T	C	5: 147,281,323 (GRCm39)	E803G	probably damaging	Het
Folr1	T	G	7: 101,507,801 (GRCm39)	D213A	probably damaging	Het
Fus	T	C	7: 127,579,094 (GRCm39)	V359A	probably damaging	Het
Gabrb3	C	T	7: 57,415,262 (GRCm39)	R111*	probably null	Het
Gm17324	T	C	9: 78,355,964 (GRCm39)		probably benign	Het
Hormad2	A	T	11: 4,358,848 (GRCm39)		probably null	Het
Ifi27l2b	T	A	12: 103,422,780 (GRCm39)		probably null	Het
Isg20	G	T	7: 78,569,891 (GRCm39)	C176F	probably benign	Het
Katnip	C	A	7: 125,442,020 (GRCm39)	S643Y	probably damaging	Het
Krt15	C	A	11: 100,024,007 (GRCm39)	V346L	probably benign	Het
Liat1	A	T	11: 75,894,024 (GRCm39)	I134F	probably damaging	Het
Med13l	A	G	5: 118,876,584 (GRCm39)	K920R	probably damaging	Het
Mlh3	A	T	12: 85,313,694 (GRCm39)	F831I	probably benign	Het
Mtmr9	A	G	14: 63,771,786 (GRCm39)	S267P	probably benign	Het
Mybpc1	C	T	10: 88,389,193 (GRCm39)	A406T	probably damaging	Het
Myh1	T	C	11: 67,102,196 (GRCm39)	M829T	probably benign	Het
Myo10	A	G	15: 25,780,497 (GRCm39)	Q209R	possibly damaging	Het
Nceh1	T	A	3: 27,293,701 (GRCm39)	V153D	probably damaging	Het
Oog3	A	T	4: 143,889,169 (GRCm39)	I3N	probably damaging	Het
Or1j19	A	G	2: 36,676,696 (GRCm39)	D53G	probably damaging	Het
Or2ag1b	C	T	7: 106,288,187 (GRCm39)	M250I	probably benign	Het
Or4c103	T	A	2: 88,513,423 (GRCm39)	I218F	probably benign	Het
Or8c20	C	A	9: 38,260,658 (GRCm39)	S87*	probably null	Het
Pcnt	G	A	10: 76,203,164 (GRCm39)	T2646M	probably benign	Het
Plcb4	T	A	2: 135,812,367 (GRCm39)		probably null	Het
Plekhh1	A	G	12: 79,123,482 (GRCm39)	H1185R	probably benign	Het
Prmt3	G	T	7: 49,476,602 (GRCm39)	V404L	probably benign	Het
Ptprb	T	A	10: 116,175,372 (GRCm39)	D1122E	probably benign	Het
Rars1	A	G	11: 35,711,921 (GRCm39)		probably null	Het
Rasa2	G	T	9: 96,427,803 (GRCm39)	N687K	possibly damaging	Het
Rbm11	A	G	16: 75,393,423 (GRCm39)	T40A	probably damaging	Het
Rem2	T	C	14: 54,713,775 (GRCm39)	V16A	probably benign	Het
Rlf	A	T	4: 121,007,588 (GRCm39)	M574K	possibly damaging	Het
Rpap3	A	T	15: 97,592,098 (GRCm39)	V186D	possibly damaging	Het
Sertad3	G	A	7: 27,176,048 (GRCm39)	E161K	probably damaging	Het
Sh3gl2	T	C	4: 85,304,130 (GRCm39)	S278P	probably benign	Het
Strn3	T	C	12: 51,680,401 (GRCm39)	T400A	probably benign	Het
Sycp2	A	T	2: 178,024,178 (GRCm39)	I402N	probably damaging	Het
Synj1	C	T	16: 90,784,290 (GRCm39)	V283I	probably benign	Het
Tas2r108	A	G	6: 40,471,000 (GRCm39)		probably null	Het
Ttpal	A	G	2: 163,457,323 (GRCm39)	N265S	probably benign	Het
Unc80	G	A	1: 66,677,116 (GRCm39)	G2015D	probably damaging	Het
Upf1	C	T	8: 70,796,017 (GRCm39)	W138*	probably null	Het
Vmn1r25	T	G	6: 57,955,786 (GRCm39)	M168L	probably benign	Het
Vmn2r18	A	T	5: 151,510,301 (GRCm39)	F24Y	probably benign	Het
Vmn2r4	G	T	3: 64,296,865 (GRCm39)	T640N	probably damaging	Het
Wdr75	T	A	1: 45,843,030 (GRCm39)		probably null	Het
Zdbf2	T	G	1: 63,342,747 (GRCm39)	S375R	possibly damaging	Het
Zfp648	A	G	1: 154,080,138 (GRCm39)	Q99R	probably benign	Het
Zfp964	C	T	8: 70,115,654 (GRCm39)	P85S	probably benign	Het

Other mutations in Phf10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01418:Phf10	APN	17	15,165,396 (GRCm39)	missense	probably benign	0.01
IGL01752:Phf10	APN	17	15,175,212 (GRCm39)	splice site	probably benign
IGL02048:Phf10	APN	17	15,165,411 (GRCm39)	missense	probably benign	0.00
IGL02334:Phf10	APN	17	15,174,361 (GRCm39)	missense	probably damaging	0.99
IGL03177:Phf10	APN	17	15,166,493 (GRCm39)	missense	probably damaging	1.00
R1913:Phf10	UTSW	17	15,177,071 (GRCm39)	missense	probably benign	0.00
R2159:Phf10	UTSW	17	15,172,926 (GRCm39)	missense	probably damaging	0.99
R4468:Phf10	UTSW	17	15,173,037 (GRCm39)	critical splice acceptor site	probably null
R4498:Phf10	UTSW	17	15,165,377 (GRCm39)	missense	probably benign	0.17
R5357:Phf10	UTSW	17	15,174,275 (GRCm39)	critical splice donor site	probably null
R5865:Phf10	UTSW	17	15,175,272 (GRCm39)	intron	probably benign
R6105:Phf10	UTSW	17	15,174,387 (GRCm39)	critical splice acceptor site	probably null
R6522:Phf10	UTSW	17	15,176,269 (GRCm39)	missense	probably damaging	1.00
R6663:Phf10	UTSW	17	15,179,774 (GRCm39)	missense	probably null	0.05
R7203:Phf10	UTSW	17	15,166,575 (GRCm39)	missense	probably damaging	1.00
R8018:Phf10	UTSW	17	15,174,378 (GRCm39)	missense	possibly damaging	0.48
R8673:Phf10	UTSW	17	15,170,868 (GRCm39)	missense	probably benign	0.27
R8708:Phf10	UTSW	17	15,176,261 (GRCm39)	missense	possibly damaging	0.56
R8998:Phf10	UTSW	17	15,170,883 (GRCm39)	missense	probably benign	0.00
R9044:Phf10	UTSW	17	15,166,584 (GRCm39)	missense	probably damaging	1.00
R9046:Phf10	UTSW	17	15,175,160 (GRCm39)	missense	probably damaging	0.96
R9103:Phf10	UTSW	17	15,174,382 (GRCm39)	missense	probably damaging	0.99
R9435:Phf10	UTSW	17	15,165,387 (GRCm39)	missense	probably benign	0.19
R9533:Phf10	UTSW	17	15,175,366 (GRCm39)	missense	probably damaging	1.00
R9547:Phf10	UTSW	17	15,166,459 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CCAAACCATTGAGACAGACTGGTGC -3'
(R):5'- TCACCCTGAGTGTTGCCTCAAAAG -3'

Sequencing Primer
(F):5'- CCCTTGGTTGCAAGGATGAAAATC -3'
(R):5'- AGCATGACAGCCATTCTTGG -3'

Posted On

2014-04-13