Mutagenetix > Incidental Mutation

Incidental Mutation 'R5520:Phf8-ps'

431523

Institutional Source

Beutler Lab

Gene Symbol

Phf8-ps

Ensembl Gene

ENSMUSG00000023350

Gene Name

PHD finger protein 8, pseudogene

Synonyms

4921501E09Rik

MMRRC Submission

043079-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

R5520 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33283117-33286999 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33284367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 812 (Y812H)

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: Y812H

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000024121
Gene: ENSMUSG00000023350
AA Change: Y812H

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: 99.1%
3x: 97.6%
10x: 94.8%
20x: 88.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	A	4: 144,504,594 (GRCm39)	T186S	probably benign	Het
AI467606	C	T	7: 126,691,998 (GRCm39)	P191L	probably benign	Het
Aoc1l1	C	A	6: 48,952,728 (GRCm39)	Q218K	possibly damaging	Het
Arl9	T	C	5: 77,154,440 (GRCm39)	V56A	probably damaging	Het
Cacng5	T	C	11: 107,768,248 (GRCm39)	Q253R	probably benign	Het
Cc2d1b	T	C	4: 108,483,556 (GRCm39)	M331T	possibly damaging	Het
Cep97	A	G	16: 55,735,659 (GRCm39)	S380P	probably benign	Het
Clpx	A	T	9: 65,224,730 (GRCm39)	K153*	probably null	Het
Dclk2	A	G	3: 86,827,147 (GRCm39)	S111P	probably damaging	Het
E2f7	A	G	10: 110,595,806 (GRCm39)	E167G	probably damaging	Het
Edn1	T	C	13: 42,455,436 (GRCm39)		probably null	Het
Farp1	C	T	14: 121,472,489 (GRCm39)	P208L	probably damaging	Het
Fbxw18	G	T	9: 109,520,589 (GRCm39)	H257N	probably benign	Het
Ftsj3	T	C	11: 106,146,414 (GRCm39)	T22A	probably benign	Het
Gm17019	A	T	5: 15,082,819 (GRCm39)	M45K	possibly damaging	Het
Gpr162	T	C	6: 124,837,876 (GRCm39)	D258G	probably damaging	Het
Grk1	T	A	8: 13,459,305 (GRCm39)	D285E	probably benign	Het
Herc6	A	T	6: 57,624,105 (GRCm39)	D625V	possibly damaging	Het
Igkv1-135	C	T	6: 67,587,324 (GRCm39)	P65L	possibly damaging	Het
Lepr	T	C	4: 101,602,734 (GRCm39)	L174P	probably benign	Het
Nphp3	A	G	9: 103,901,872 (GRCm39)	S689G	probably benign	Het
Or14c44	T	A	7: 86,062,064 (GRCm39)	S165T	probably benign	Het
Or5w20	T	C	2: 87,726,753 (GRCm39)		probably benign	Het
Plxnb2	T	G	15: 89,051,746 (GRCm39)	T158P	possibly damaging	Het
Pramel32	A	C	4: 88,548,277 (GRCm39)	S43A	probably damaging	Het
R3hcc1	T	A	14: 69,936,057 (GRCm39)	K437*	probably null	Het
Rnf213	C	A	11: 119,324,325 (GRCm39)	H1428Q	probably damaging	Het
Ro60	A	T	1: 143,646,509 (GRCm39)	S79T	probably benign	Het
Spata31e2	A	T	1: 26,724,900 (GRCm39)	N93K	probably benign	Het
Ssx2ip	G	A	3: 146,143,066 (GRCm39)	R548H	probably benign	Het
Trim23	C	T	13: 104,324,035 (GRCm39)	R165C	probably damaging	Het
Ulk2	T	G	11: 61,698,970 (GRCm39)	T405P	probably damaging	Het
Unkl	G	A	17: 25,424,584 (GRCm39)	V204I	probably damaging	Het
Vmn1r43	T	C	6: 89,846,728 (GRCm39)	T253A	probably damaging	Het
Zfp534	T	C	4: 147,759,887 (GRCm39)	I261V	possibly damaging	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
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
R8502: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'- CTCCTGTGCCAGCTTTGTAG -3'
(R):5'- AAAGCCCTAGCAGTGTCTTGG -3'

Sequencing Primer
(F):5'- GTAGTCCAGTCTATCTCAATGGAGC -3'
(R):5'- CTAGCAGTGTCTTGGGCACAG -3'

Posted On

2016-10-05