Mutagenetix > Incidental Mutation

Incidental Mutation 'R4161:Phf8-ps'

321542

Institutional Source

Beutler Lab

Gene Symbol

Phf8-ps

Ensembl Gene

ENSMUSG00000023350

Gene Name

PHD finger protein 8, pseudogene

Synonyms

4921501E09Rik

MMRRC Submission

041004-MU

Accession Numbers

Essential gene?

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

Stock #

R4161 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33283117-33286999 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 33285023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 593 (T593I)

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: T593I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000024121
Gene: ENSMUSG00000023350
AA Change: T593I

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: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

95% (39/41)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr2	A	G	9: 121,738,588 (GRCm39)	Y321C	probably benign	Het
Angptl3	T	C	4: 98,919,728 (GRCm39)	S163P	probably damaging	Het
Ankle2	T	C	5: 110,382,234 (GRCm39)	M70T	probably benign	Het
Ankrd1	T	A	19: 36,095,273 (GRCm39)	K138N	probably damaging	Het
Ano8	A	T	8: 71,935,281 (GRCm39)	I339N	probably damaging	Het
Bltp3a	A	G	17: 28,103,061 (GRCm39)	Y365C	probably damaging	Het
Cxcl2	A	T	5: 91,051,881 (GRCm39)		probably null	Het
Exosc3	T	C	4: 45,320,619 (GRCm39)		probably benign	Het
Fads2b	C	A	2: 85,348,853 (GRCm39)	K86N	probably damaging	Het
Fat1	G	A	8: 45,489,824 (GRCm39)	A3579T	probably benign	Het
Fat4	G	A	3: 38,996,958 (GRCm39)	V1726I	possibly damaging	Het
Grm7	A	G	6: 111,230,981 (GRCm39)	N468S	probably damaging	Het
Hmgcll1	A	T	9: 75,982,198 (GRCm39)		probably benign	Het
Igkv3-12	T	A	6: 70,495,542 (GRCm39)	V23E	probably benign	Het
Irx6	T	C	8: 93,402,919 (GRCm39)	C95R	possibly damaging	Het
Kif16b	G	A	2: 142,549,324 (GRCm39)	H1064Y	probably benign	Het
Lrrc45	A	T	11: 120,609,272 (GRCm39)	D377V	possibly damaging	Het
Oasl1	A	G	5: 115,075,073 (GRCm39)	K378E	possibly damaging	Het
Pds5a	T	C	5: 65,821,839 (GRCm39)	T120A	possibly damaging	Het
Plec	T	C	15: 76,063,851 (GRCm39)	E2141G	possibly damaging	Het
Pou6f1	A	G	15: 100,478,724 (GRCm39)	S395P	probably damaging	Het
Prss12	A	T	3: 123,279,176 (GRCm39)	K418*	probably null	Het
Rtn3	G	A	19: 7,460,444 (GRCm39)	A2V	probably benign	Het
Rubcnl	A	G	14: 75,281,898 (GRCm39)	T452A	possibly damaging	Het
Sdk1	A	G	5: 142,100,154 (GRCm39)	I1395V	probably benign	Het
Senp7	C	A	16: 55,973,832 (GRCm39)	P351Q	possibly damaging	Het
Slco1a7	T	C	6: 141,654,322 (GRCm39)	K647E	probably benign	Het
Spred3	A	G	7: 28,861,210 (GRCm39)	L323P	probably damaging	Het
Srprb	A	G	9: 103,078,529 (GRCm39)	F67S	possibly damaging	Het
Tk2	T	C	8: 104,965,465 (GRCm39)	S101G	probably benign	Het
Tnxb	A	G	17: 34,930,491 (GRCm39)	T2059A	probably damaging	Het
Trpm7	A	G	2: 126,658,751 (GRCm39)	L1135P	probably damaging	Het
Ush2a	G	A	1: 188,460,907 (GRCm39)	V2723M	probably damaging	Het
Usp38	C	T	8: 81,719,967 (GRCm39)	A421T	probably damaging	Het
Vcan	G	T	13: 89,833,277 (GRCm39)	N3058K	probably damaging	Het
Vmn1r221	G	A	13: 23,402,176 (GRCm39)		noncoding transcript	Het
Vps11	C	G	9: 44,267,017 (GRCm39)	G406A	probably damaging	Het
Wnk2	C	T	13: 49,244,313 (GRCm39)	D508N	probably damaging	Het
Zbtb10	T	C	3: 9,345,356 (GRCm39)	S707P	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
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
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'- TCTACAATGGTGATCTCAGTTTCCC -3'
(R):5'- AGGTAGGCTGTCTCCAAAACG -3'

Sequencing Primer
(F):5'- CCCCTGGATCATGACTTTGG -3'
(R):5'- TAGGCTGTCTCCAAAACGTAGAG -3'

Posted On

2015-06-12