Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00790:Phf8-ps'

8450

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phf8-ps

Ensembl Gene

ENSMUSG00000023350

Gene Name

PHD finger protein 8, pseudogene

Synonyms

4921501E09Rik

Accession Numbers

Essential gene?

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

Stock #

IGL00790

Quality Score

Status

Chromosome

Chromosomal Location

33283117-33286999 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33286361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 147 (V147A)

Ref Sequence

ENSEMBL: ENSMUSP00000024121 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000024121
AA Change: V147A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000024121
Gene: ENSMUSG00000023350
AA Change: V147A

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd12	A	T	17: 66,291,175 (GRCm39)	N1419K	probably benign	Het
Arhgef18	A	G	8: 3,479,553 (GRCm39)	E79G	probably damaging	Het
Art4	T	A	6: 136,831,493 (GRCm39)	Q216L	probably damaging	Het
Bbs4	T	C	9: 59,231,348 (GRCm39)	D407G	probably benign	Het
Cherp	A	G	8: 73,222,090 (GRCm39)	I277T	probably damaging	Het
Cnot2	A	G	10: 116,342,976 (GRCm39)	M119T	probably benign	Het
Disp2	T	A	2: 118,616,759 (GRCm39)	C73S	probably damaging	Het
Dock4	T	C	12: 40,884,390 (GRCm39)	S1686P	probably damaging	Het
Dsc1	C	T	18: 20,227,953 (GRCm39)	G468S	probably damaging	Het
Duox2	T	A	2: 122,122,781 (GRCm39)	D551V	possibly damaging	Het
Gmip	T	A	8: 70,269,661 (GRCm39)	Y585*	probably null	Het
Gnal	A	G	18: 67,267,360 (GRCm39)		probably null	Het
Idh1	T	G	1: 65,205,281 (GRCm39)	Q228P	possibly damaging	Het
Igsf10	A	T	3: 59,226,938 (GRCm39)	I2245N	probably damaging	Het
Mrgpra4	A	T	7: 47,631,052 (GRCm39)	M183K	possibly damaging	Het
Npr2	T	A	4: 43,641,612 (GRCm39)	V472D	possibly damaging	Het
Pcdh7	A	T	5: 57,878,806 (GRCm39)	N787I	probably damaging	Het
Ppp1r10	A	T	17: 36,235,751 (GRCm39)	N111I	probably damaging	Het
Ppp3ca	A	G	3: 136,640,942 (GRCm39)	N508D	probably benign	Het
Rgs17	A	G	10: 5,862,624 (GRCm38)	Q25P	possibly damaging	Het
Slco6d1	T	A	1: 98,348,925 (GRCm39)		probably benign	Het
Tab3	T	A	X: 84,665,210 (GRCm39)	N591K	probably damaging	Het
Tfcp2	T	C	15: 100,411,059 (GRCm39)		probably benign	Het
Them5	A	T	3: 94,250,716 (GRCm39)	D93V	probably damaging	Het
Thoc5	T	G	11: 4,868,147 (GRCm39)	V275G	probably damaging	Het
Trmt1l	T	C	1: 151,318,463 (GRCm39)		probably null	Het
Zdbf2	G	T	1: 63,345,673 (GRCm39)	V1351F	possibly damaging	Het
Zfp14	G	T	7: 29,738,312 (GRCm39)	Y224*	probably null	Het
Zfp606	T	G	7: 12,228,159 (GRCm39)	M702R	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
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
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

Posted On

2012-12-06