Mutagenetix > Incidental Mutation

Incidental Mutation 'R8502:Phf8-ps'

655389

Institutional Source

Beutler Lab

Gene Symbol

Phf8-ps

Ensembl Gene

ENSMUSG00000023350

Gene Name

PHD finger protein 8, pseudogene

Synonyms

4921501E09Rik

MMRRC Submission

067839-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

R8502 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33283117-33286999 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 33286038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 255 (A255S)

Ref Sequence

ENSEMBL: ENSMUSP00000024121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024121]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000024121
AA Change: A255S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000024121
Gene: ENSMUSG00000023350
AA Change: A255S

Domain	Start	End	E-Value	Type
PHD	7	54	1.5e-8	SMART
JmjC	195	351	1.38e-46	SMART
low complexity region	475	489	N/A	INTRINSIC
low complexity region	731	745	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	A	11: 9,219,282 (GRCm39)	D405E	probably benign	Het
Abca6	T	A	11: 110,110,145 (GRCm39)	L599F	probably damaging	Het
Accs	T	C	2: 93,668,460 (GRCm39)	Y337C	probably damaging	Het
Ahrr	A	T	13: 74,431,193 (GRCm39)	Y10N	probably damaging	Het
Akap12	T	G	10: 4,263,856 (GRCm39)	D88E	probably benign	Het
Akr1c18	G	A	13: 4,192,188 (GRCm39)	R170C	probably benign	Het
Cgnl1	A	G	9: 71,537,887 (GRCm39)	V1211A	probably damaging	Het
Crlf2	T	C	5: 109,704,917 (GRCm39)	D98G	probably benign	Het
Cyp2c66	T	A	19: 39,130,773 (GRCm39)	M129K	probably benign	Het
Dennd4b	T	C	3: 90,181,165 (GRCm39)	W774R	probably damaging	Het
Dhx9	T	C	1: 153,335,210 (GRCm39)	M932V	probably benign	Het
Dnah7a	A	G	1: 53,679,520 (GRCm39)	S322P	probably benign	Het
Dst	A	G	1: 34,206,373 (GRCm39)	D907G	probably damaging	Het
Hrh1	A	G	6: 114,457,966 (GRCm39)	K416E	probably damaging	Het
Ints6	G	C	14: 62,998,028 (GRCm39)	T27R	possibly damaging	Het
Krt10	C	T	11: 99,278,359 (GRCm39)	E267K	probably damaging	Het
Lama5	T	C	2: 179,837,015 (GRCm39)	N1074S	probably damaging	Het
Lrp2	C	T	2: 69,344,585 (GRCm39)	W844*	probably null	Het
N4bp2l2	T	G	5: 150,585,821 (GRCm39)	N53T	probably benign	Het
Naip6	C	T	13: 100,436,784 (GRCm39)	A580T	possibly damaging	Het
Nap1l1	T	A	10: 111,317,162 (GRCm39)	M1K	probably null	Het
Nbeal2	C	T	9: 110,463,457 (GRCm39)	S1258N	possibly damaging	Het
Or52a5	T	C	7: 103,426,968 (GRCm39)	I195V	probably benign	Het
Osgin2	A	T	4: 16,005,493 (GRCm39)	V131D	probably damaging	Het
Pced1a	T	C	2: 130,265,577 (GRCm39)		probably benign	Het
Prdm2	T	C	4: 142,861,584 (GRCm39)	I569V	probably damaging	Het
Prss42	T	C	9: 110,629,984 (GRCm39)	L246P	probably damaging	Het
Ptpra	C	A	2: 130,391,679 (GRCm39)	D732E	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,121 (GRCm39)		probably benign	Het
Rspo3	T	C	10: 29,375,970 (GRCm39)	T198A	probably benign	Het
Slc45a2	T	C	15: 11,027,958 (GRCm39)	I509T	possibly damaging	Het
Spag7	T	C	11: 70,560,059 (GRCm39)	S17G	probably benign	Het
Tcl1b2	T	A	12: 105,113,367 (GRCm39)	Y7N	probably benign	Het
Tmem198	G	T	1: 75,459,353 (GRCm39)	G103W	probably damaging	Het
Trim62	A	G	4: 128,803,233 (GRCm39)	I428V	probably benign	Het
Usp7	A	T	16: 8,512,893 (GRCm39)		probably null	Het
Zan	T	A	5: 137,471,845 (GRCm39)	T191S	probably damaging	Het
Zfat	T	C	15: 67,976,916 (GRCm39)	T1078A	probably benign	Het

Other mutations in Phf8-ps

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Phf8-ps	APN	17	33,284,837 (GRCm39)	missense	probably benign	0.10
IGL00790:Phf8-ps	APN	17	33,286,361 (GRCm39)	missense	probably damaging	1.00
IGL01146:Phf8-ps	APN	17	33,284,357 (GRCm39)	missense	possibly damaging	0.68
IGL01755:Phf8-ps	APN	17	33,285,951 (GRCm39)	missense	probably damaging	0.99
IGL01880:Phf8-ps	APN	17	33,285,690 (GRCm39)	missense	probably damaging	0.99
IGL01981:Phf8-ps	APN	17	33,286,628 (GRCm39)	missense	probably damaging	1.00
IGL01982:Phf8-ps	APN	17	33,285,289 (GRCm39)	missense	probably benign	0.00
IGL02047:Phf8-ps	APN	17	33,286,275 (GRCm39)	missense	probably damaging	1.00
IGL02070:Phf8-ps	APN	17	33,285,104 (GRCm39)	missense	probably damaging	0.98
R0055:Phf8-ps	UTSW	17	33,285,696 (GRCm39)	missense	probably damaging	1.00
R0055:Phf8-ps	UTSW	17	33,285,696 (GRCm39)	missense	probably damaging	1.00
R0893:Phf8-ps	UTSW	17	33,284,263 (GRCm39)	missense	probably benign	0.34
R1528:Phf8-ps	UTSW	17	33,286,215 (GRCm39)	missense	probably damaging	1.00
R1558:Phf8-ps	UTSW	17	33,284,679 (GRCm39)	missense	probably benign	0.20
R1664:Phf8-ps	UTSW	17	33,285,492 (GRCm39)	missense	probably damaging	1.00
R1782:Phf8-ps	UTSW	17	33,286,662 (GRCm39)	missense	probably benign	0.06
R1881:Phf8-ps	UTSW	17	33,284,258 (GRCm39)	missense	probably damaging	1.00
R2018:Phf8-ps	UTSW	17	33,285,941 (GRCm39)	missense	probably benign	0.15
R2029:Phf8-ps	UTSW	17	33,286,598 (GRCm39)	nonsense	probably null
R2152:Phf8-ps	UTSW	17	33,285,908 (GRCm39)	missense	probably damaging	1.00
R2298:Phf8-ps	UTSW	17	33,285,752 (GRCm39)	missense	probably damaging	1.00
R2395:Phf8-ps	UTSW	17	33,284,936 (GRCm39)	missense	probably benign	0.28
R2424:Phf8-ps	UTSW	17	33,284,730 (GRCm39)	missense	probably benign	0.00
R3973:Phf8-ps	UTSW	17	33,285,405 (GRCm39)	missense	probably benign	0.24
R3976:Phf8-ps	UTSW	17	33,285,405 (GRCm39)	missense	probably benign	0.24
R4159:Phf8-ps	UTSW	17	33,285,023 (GRCm39)	missense	probably benign	0.01
R4160:Phf8-ps	UTSW	17	33,285,023 (GRCm39)	missense	probably benign	0.01
R4161:Phf8-ps	UTSW	17	33,285,023 (GRCm39)	missense	probably benign	0.01
R4761:Phf8-ps	UTSW	17	33,286,172 (GRCm39)	missense	probably damaging	1.00
R4855:Phf8-ps	UTSW	17	33,285,713 (GRCm39)	missense	probably benign	0.00
R5039:Phf8-ps	UTSW	17	33,286,734 (GRCm39)	missense	probably damaging	1.00
R5255:Phf8-ps	UTSW	17	33,285,739 (GRCm39)	nonsense	probably null
R5383:Phf8-ps	UTSW	17	33,284,231 (GRCm39)	missense	probably benign
R5520:Phf8-ps	UTSW	17	33,284,367 (GRCm39)	missense	probably benign	0.03
R5588:Phf8-ps	UTSW	17	33,285,249 (GRCm39)	nonsense	probably null
R5685:Phf8-ps	UTSW	17	33,285,746 (GRCm39)	missense	probably benign	0.04
R5826:Phf8-ps	UTSW	17	33,284,288 (GRCm39)	missense	possibly damaging	0.87
R5907:Phf8-ps	UTSW	17	33,285,124 (GRCm39)	missense	probably benign	0.01
R6397:Phf8-ps	UTSW	17	33,285,219 (GRCm39)	missense	probably benign	0.28
R6731:Phf8-ps	UTSW	17	33,285,200 (GRCm39)	missense	probably benign	0.02
R6750:Phf8-ps	UTSW	17	33,285,372 (GRCm39)	missense	possibly damaging	0.82
R7043:Phf8-ps	UTSW	17	33,284,306 (GRCm39)	missense	possibly damaging	0.85
R7242:Phf8-ps	UTSW	17	33,286,101 (GRCm39)	missense	probably damaging	1.00
R7262:Phf8-ps	UTSW	17	33,285,971 (GRCm39)	missense	probably damaging	0.99
R7265:Phf8-ps	UTSW	17	33,285,971 (GRCm39)	missense	probably damaging	0.99
R7286:Phf8-ps	UTSW	17	33,284,501 (GRCm39)	missense	probably benign
R7797:Phf8-ps	UTSW	17	33,286,664 (GRCm39)	missense	probably damaging	1.00
R8314:Phf8-ps	UTSW	17	33,286,038 (GRCm39)	missense	probably benign	0.04
R8315:Phf8-ps	UTSW	17	33,286,038 (GRCm39)	missense	probably benign	0.04
R8376:Phf8-ps	UTSW	17	33,286,038 (GRCm39)	missense	probably benign	0.04
R8377:Phf8-ps	UTSW	17	33,286,038 (GRCm39)	missense	probably benign	0.04
R8378:Phf8-ps	UTSW	17	33,286,038 (GRCm39)	missense	probably benign	0.04
R8404:Phf8-ps	UTSW	17	33,286,038 (GRCm39)	missense	probably benign	0.04
R8405:Phf8-ps	UTSW	17	33,286,038 (GRCm39)	missense	probably benign	0.04
R8406:Phf8-ps	UTSW	17	33,286,038 (GRCm39)	missense	probably benign	0.04
R8425:Phf8-ps	UTSW	17	33,286,038 (GRCm39)	missense	probably benign	0.04
R8501:Phf8-ps	UTSW	17	33,286,038 (GRCm39)	missense	probably benign	0.04
R9091:Phf8-ps	UTSW	17	33,286,701 (GRCm39)	missense	probably damaging	1.00
R9220:Phf8-ps	UTSW	17	33,286,494 (GRCm39)	missense	probably benign	0.26
R9270:Phf8-ps	UTSW	17	33,286,701 (GRCm39)	missense	probably damaging	1.00
R9369:Phf8-ps	UTSW	17	33,285,579 (GRCm39)	missense	probably damaging	1.00
R9766:Phf8-ps	UTSW	17	33,285,647 (GRCm39)	missense	probably damaging	0.99
Z1176:Phf8-ps	UTSW	17	33,284,631 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- ATGCTAGGCAATCCACTGGG -3'
(R):5'- GGAATTCTCTAATACTGGGCTTTC -3'

Sequencing Primer
(F):5'- CCTGTAGGAATGAAAAGTGTCTGTCC -3'
(R):5'- GGGCTTTCTAATATAGTAGAGATGCC -3'

Posted On

2020-10-20