Mutagenetix > Incidental Mutation

Incidental Mutation 'R2395:Phf8-ps'

248505

Institutional Source

Beutler Lab

Gene Symbol

Phf8-ps

Ensembl Gene

ENSMUSG00000023350

Gene Name

PHD finger protein 8, pseudogene

Synonyms

4921501E09Rik

MMRRC Submission

040363-MU

Accession Numbers

Essential gene?

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

Stock #

R2395 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33283117-33286999 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33284936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 622 (E622G)

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: E622G

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000024121
Gene: ENSMUSG00000023350
AA Change: E622G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (30/30)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,959,614 (GRCm39)	Y707H	probably damaging	Het
Abcc3	A	G	11: 94,248,132 (GRCm39)	V1156A	possibly damaging	Het
Acsl3	T	C	1: 78,683,085 (GRCm39)	V661A	probably benign	Het
Atosb	C	A	4: 43,035,964 (GRCm39)	E256*	probably null	Het
B3glct	A	G	5: 149,677,651 (GRCm39)	T427A	probably damaging	Het
Cblc	C	A	7: 19,519,305 (GRCm39)	C341F	probably damaging	Het
Cntn2	T	C	1: 132,454,110 (GRCm39)	S299G	probably benign	Het
Dcp1b	T	C	6: 119,192,025 (GRCm39)	S314P	probably benign	Het
Dnah6	T	C	6: 73,068,950 (GRCm39)		probably null	Het
Fmn1	A	G	2: 113,195,526 (GRCm39)	T409A	unknown	Het
Hltf	C	T	3: 20,146,906 (GRCm39)	A555V	probably benign	Het
Kmt2c	T	C	5: 25,520,150 (GRCm39)	I1987V	probably benign	Het
Map3k10	T	C	7: 27,373,418 (GRCm39)	E11G	unknown	Het
Micu1	G	T	10: 59,699,024 (GRCm39)	E434*	probably null	Het
Mlph	A	G	1: 90,861,228 (GRCm39)	T288A	probably benign	Het
Myh13	A	G	11: 67,255,748 (GRCm39)	E1679G	probably benign	Het
Myh15	A	G	16: 48,889,877 (GRCm39)	N156S	probably benign	Het
Nab1	A	G	1: 52,529,741 (GRCm39)	I52T	probably damaging	Het
Naip1	T	C	13: 100,559,614 (GRCm39)	H1130R	possibly damaging	Het
Or10al2	T	G	17: 37,983,587 (GRCm39)	Y224*	probably null	Het
Or8k23	A	G	2: 86,186,609 (GRCm39)	V39A	probably benign	Het
P2rx2	A	G	5: 110,489,527 (GRCm39)	Y136H	probably damaging	Het
Prss40	A	G	1: 34,598,986 (GRCm39)	V59A	possibly damaging	Het
Riox1	A	T	12: 83,997,418 (GRCm39)		probably null	Het
Rxrb	T	G	17: 34,256,412 (GRCm39)	C384W	probably damaging	Het
Srebf2	C	T	15: 82,076,456 (GRCm39)	T702I	probably benign	Het
Tmprss5	T	A	9: 49,026,435 (GRCm39)	L373*	probably null	Het
Trpm2	A	C	10: 77,783,714 (GRCm39)	I253S	possibly damaging	Het
Ush2a	C	T	1: 188,679,237 (GRCm39)	T4815I	probably damaging	Het
Vmn2r73	A	T	7: 85,506,975 (GRCm39)	M779K	probably 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
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
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'- GGATCAATAGTTCCACCAGATTCAC -3'
(R):5'- GCCTTCAATGGGAATGAGAGC -3'

Sequencing Primer
(F):5'- ACCAGATTCACTTCCATTCTTAAAC -3'
(R):5'- AATGAGAGCCTGGTGCCTCTG -3'

Posted On

2014-11-11