Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00470:Phf8-ps'

5763

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: 0.175) question?

Stock #

IGL00470

Quality Score

Status

Chromosome

Chromosomal Location

33283117-33286999 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33284837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 655 (H655L)

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: H655L

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000024121
Gene: ENSMUSG00000023350
AA Change: H655L

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732463B04Rik	G	T	12: 84,090,578 (GRCm39)		probably benign	Het
Abcd1	T	C	X: 72,761,154 (GRCm39)	L173P	probably damaging	Het
Adam18	T	A	8: 25,118,149 (GRCm39)	D41V	probably damaging	Het
Armh4	A	T	14: 50,010,460 (GRCm39)	S416T	probably damaging	Het
Aspa	T	G	11: 73,204,447 (GRCm39)		probably benign	Het
Cacna2d1	T	A	5: 16,451,654 (GRCm39)		probably benign	Het
Cracd	G	A	5: 77,013,903 (GRCm39)		probably benign	Het
Cubn	T	A	2: 13,283,229 (GRCm39)	I3570L	probably benign	Het
Cyp2j13	G	A	4: 95,950,275 (GRCm39)	P242L	probably damaging	Het
Cysrt1	T	C	2: 25,129,513 (GRCm39)		probably benign	Het
Dchs1	A	T	7: 105,407,414 (GRCm39)	L2100H	probably damaging	Het
Ddb1	G	A	19: 10,589,028 (GRCm39)	A229T	possibly damaging	Het
Dst	A	T	1: 34,228,043 (GRCm39)	I1554F	probably damaging	Het
Dvl3	C	T	16: 20,349,689 (GRCm39)	P554L	probably damaging	Het
Fcgbp	C	A	7: 27,774,511 (GRCm39)	C28*	probably null	Het
Gm773	T	C	X: 55,247,373 (GRCm39)	D53G	probably benign	Het
Hhat	A	G	1: 192,399,325 (GRCm39)	Y272H	probably damaging	Het
Inpp5k	T	C	11: 75,536,351 (GRCm39)	S310P	probably benign	Het
Kat2a	G	A	11: 100,596,210 (GRCm39)	R782W	probably damaging	Het
Kcnh5	T	C	12: 74,944,570 (GRCm39)	D893G	probably benign	Het
Lama2	T	C	10: 27,119,738 (GRCm39)	T709A	probably benign	Het
Mcm8	G	A	2: 132,669,457 (GRCm39)	V281I	probably benign	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Nup133	T	G	8: 124,665,822 (GRCm39)	D201A	probably damaging	Het
Oxct2a	A	G	4: 123,217,183 (GRCm39)	L66P	possibly damaging	Het
Pcbp2	C	T	15: 102,399,148 (GRCm39)	A224V	probably damaging	Het
Pla2g4e	G	A	2: 120,015,719 (GRCm39)	S275F	probably benign	Het
Pxk	T	C	14: 8,130,754 (GRCm38)	F118L	probably damaging	Het
Sp2	C	T	11: 96,845,387 (GRCm39)	R578H	probably damaging	Het
Sphkap	A	G	1: 83,255,631 (GRCm39)	M706T	possibly damaging	Het
Tars3	T	C	7: 65,338,656 (GRCm39)	M689T	probably benign	Het
Trrap	T	C	5: 144,754,848 (GRCm39)	V2008A	probably damaging	Het
Txndc2	A	T	17: 65,945,569 (GRCm39)	S203T	probably benign	Het
Txnrd1	T	G	10: 82,711,496 (GRCm39)	D42E	probably damaging	Het
Zswim8	G	A	14: 20,773,249 (GRCm39)	D1746N	probably damaging	Het

Other mutations in Phf8-ps

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-04-20