Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02576:Phf3'

299195

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phf3

Ensembl Gene

ENSMUSG00000048874

Gene Name

PHD finger protein 3

Synonyms

AU020177, 2310061N19Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02576

Quality Score

Status

Chromosome

Chromosomal Location

30802339-30873921 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30830036 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 644 (P644S)

Ref Sequence

ENSEMBL: ENSMUSP00000139610 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088310] [ENSMUST00000186733] [ENSMUST00000188780] [ENSMUST00000191064]

Predicted Effect

probably benign
Transcript: ENSMUST00000088310
AA Change: P644S

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

SMART Domains

Protein: ENSMUSP00000085650
Gene: ENSMUSG00000048874
AA Change: P644S

Domain	Start	End	E-Value	Type
low complexity region	212	223	N/A	INTRINSIC
low complexity region	337	344	N/A	INTRINSIC
low complexity region	600	611	N/A	INTRINSIC
low complexity region	651	660	N/A	INTRINSIC
PHD	697	748	3.82e-10	SMART
low complexity region	847	859	N/A	INTRINSIC
low complexity region	876	887	N/A	INTRINSIC
TFS2M	908	1008	1.28e-47	SMART
Pfam:SPOC	1188	1294	4.2e-26	PFAM
low complexity region	1367	1373	N/A	INTRINSIC
low complexity region	1516	1529	N/A	INTRINSIC
low complexity region	1597	1620	N/A	INTRINSIC
low complexity region	1796	1811	N/A	INTRINSIC
low complexity region	1813	1846	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185521

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186105

Predicted Effect

probably benign
Transcript: ENSMUST00000186733
AA Change: P644S

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

SMART Domains

Protein: ENSMUSP00000139610
Gene: ENSMUSG00000048874
AA Change: P644S

Domain	Start	End	E-Value	Type
low complexity region	212	223	N/A	INTRINSIC
low complexity region	337	344	N/A	INTRINSIC
low complexity region	600	611	N/A	INTRINSIC
low complexity region	651	660	N/A	INTRINSIC
PHD	697	748	3.82e-10	SMART
low complexity region	847	859	N/A	INTRINSIC
low complexity region	876	887	N/A	INTRINSIC
TFS2M	908	1008	1.28e-47	SMART
Pfam:SPOC	1188	1294	4.2e-26	PFAM
low complexity region	1367	1373	N/A	INTRINSIC
low complexity region	1516	1529	N/A	INTRINSIC
low complexity region	1597	1620	N/A	INTRINSIC
low complexity region	1796	1811	N/A	INTRINSIC
low complexity region	1813	1846	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187600

Predicted Effect

probably benign
Transcript: ENSMUST00000188780

SMART Domains

Protein: ENSMUSP00000140935
Gene: ENSMUSG00000048874

Domain	Start	End	E-Value	Type
low complexity region	158	169	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191064

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191245

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195437

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a PHD finger-containing gene family. This gene may function as a transcription factor and may be involved in glioblastomas development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,433,455	I232M	probably benign	Het
Ace	G	A	11: 105,974,111	V537M	probably damaging	Het
Alg1	A	G	16: 5,244,529	E425G	possibly damaging	Het
Cacng3	G	A	7: 122,671,910	S46N	probably benign	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cfap65	A	G	1: 74,903,458	S1646P	probably damaging	Het
Col20a1	C	T	2: 181,013,405	Q1152*	probably null	Het
D130043K22Rik	A	C	13: 24,856,870	T92P	possibly damaging	Het
Drc3	T	C	11: 60,370,551	M176T	probably benign	Het
Esyt3	T	C	9: 99,315,225	R851G	probably benign	Het
Fbxo43	A	G	15: 36,152,175	V496A	probably benign	Het
Fut4	T	A	9: 14,751,405	M198L	probably damaging	Het
Galt	C	T	4: 41,755,953		probably benign	Het
Glipr1l1	A	G	10: 112,060,319	K4E	possibly damaging	Het
Gm9945	A	G	11: 53,480,351		probably benign	Het
Hspa12a	A	C	19: 58,799,410	I660R	possibly damaging	Het
Htr3b	T	C	9: 48,945,504	I225V	possibly damaging	Het
Igf2r	T	C	17: 12,748,763	D23G	possibly damaging	Het
Igsf5	A	G	16: 96,386,581	I158V	probably benign	Het
Itgae	A	G	11: 73,118,505	Y505C	possibly damaging	Het
Kif16b	A	G	2: 142,862,545		probably benign	Het
Kif26b	T	C	1: 178,916,347	V1336A	probably benign	Het
Kmt2d	A	G	15: 98,864,120	S450P	unknown	Het
Lexm	T	C	4: 106,591,628	D411G	possibly damaging	Het
Lhfpl2	G	A	13: 94,174,226	M1I	probably null	Het
Lig4	A	G	8: 9,971,116	I888T	probably damaging	Het
Msh4	G	A	3: 153,867,746	T563M	probably damaging	Het
Muc5ac	C	T	7: 141,817,044	A3238V	probably benign	Het
Myo15b	A	G	11: 115,890,053	S1246G	probably null	Het
Olfr193	T	C	16: 59,109,771	I280V	probably benign	Het
Pecam1	G	A	11: 106,671,774	T599M	probably damaging	Het
Pkd1l1	A	C	11: 8,844,560	F2317C	possibly damaging	Het
Prdm4	A	G	10: 85,900,937	M613T	possibly damaging	Het
Prim2	A	T	1: 33,484,717	I371N	probably damaging	Het
Ptprs	T	C	17: 56,414,958	D1316G	probably damaging	Het
Rnf19b	C	T	4: 129,073,522	R285*	probably null	Het
Secisbp2	A	G	13: 51,670,858	N381D	possibly damaging	Het
Slc28a2	T	C	2: 122,458,171	I586T	probably damaging	Het
Spef1	T	C	2: 131,174,642	H11R	possibly damaging	Het
Taar4	T	C	10: 23,961,011	L173S	probably damaging	Het
Tas2r123	T	C	6: 132,847,740	F200S	possibly damaging	Het
Tex16	T	A	X: 112,118,956	L384Q	probably benign	Het
Tox2	A	G	2: 163,276,180	Q168R	probably damaging	Het
Trim5	T	A	7: 104,278,417	E172V	probably damaging	Het
Txndc11	G	A	16: 11,075,017		probably benign	Het
Vmn1r232	T	A	17: 20,913,913	I142F	probably benign	Het
Zdhhc25	A	T	15: 88,601,269	H269L	probably benign	Het
Znrf4	T	C	17: 56,512,199	D36G	probably damaging	Het

Other mutations in Phf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Phf3	APN	1	30811847	missense	probably damaging	0.99
IGL00704:Phf3	APN	1	30804838	missense	probably benign
IGL01147:Phf3	APN	1	30804169	missense	probably damaging	1.00
IGL01360:Phf3	APN	1	30808728	missense	probably damaging	1.00
IGL01376:Phf3	APN	1	30830485	missense	possibly damaging	0.62
IGL01396:Phf3	APN	1	30804305	nonsense	probably null
IGL01830:Phf3	APN	1	30814067	nonsense	probably null
IGL02108:Phf3	APN	1	30829951	missense	probably damaging	1.00
IGL02156:Phf3	APN	1	30808778	missense	probably damaging	1.00
IGL03031:Phf3	APN	1	30804653	missense	probably benign	0.00
IGL03334:Phf3	APN	1	30805729	missense	probably damaging	0.99
IGL03411:Phf3	APN	1	30804401	missense	probably damaging	1.00
FR4976:Phf3	UTSW	1	30805023	utr 3 prime	probably benign
PIT4458001:Phf3	UTSW	1	30816541	missense	probably damaging	1.00
R0037:Phf3	UTSW	1	30804918	missense	probably benign	0.03
R0052:Phf3	UTSW	1	30808767	missense	probably damaging	1.00
R0114:Phf3	UTSW	1	30805443	missense	possibly damaging	0.87
R0123:Phf3	UTSW	1	30805065	missense	probably benign	0.01
R0225:Phf3	UTSW	1	30805065	missense	probably benign	0.01
R0715:Phf3	UTSW	1	30811838	missense	probably damaging	1.00
R0835:Phf3	UTSW	1	30830551	missense	probably benign	0.02
R0848:Phf3	UTSW	1	30863172	missense	probably damaging	1.00
R1473:Phf3	UTSW	1	30805940	missense	probably damaging	1.00
R1522:Phf3	UTSW	1	30805648	missense	probably benign	0.05
R1549:Phf3	UTSW	1	30804842	missense	probably benign	0.00
R1555:Phf3	UTSW	1	30805877	missense	possibly damaging	0.86
R1780:Phf3	UTSW	1	30811942	missense	probably damaging	1.00
R1789:Phf3	UTSW	1	30806206	missense	probably damaging	1.00
R1875:Phf3	UTSW	1	30830623	missense	possibly damaging	0.81
R1912:Phf3	UTSW	1	30804345	missense	probably damaging	1.00
R1957:Phf3	UTSW	1	30831520	missense	probably damaging	1.00
R2019:Phf3	UTSW	1	30811847	missense	probably damaging	0.99
R2259:Phf3	UTSW	1	30804343	missense	probably benign	0.20
R2305:Phf3	UTSW	1	30805475	nonsense	probably null
R2345:Phf3	UTSW	1	30805351	nonsense	probably null
R2424:Phf3	UTSW	1	30806349	missense	probably damaging	1.00
R2497:Phf3	UTSW	1	30830014	missense	probably damaging	1.00
R2504:Phf3	UTSW	1	30810789	missense	probably damaging	1.00
R3522:Phf3	UTSW	1	30805603	missense	probably damaging	1.00
R3816:Phf3	UTSW	1	30805753	missense	probably damaging	1.00
R4152:Phf3	UTSW	1	30831458	missense	probably benign	0.13
R4403:Phf3	UTSW	1	30804409	missense	probably damaging	1.00
R4658:Phf3	UTSW	1	30863088	missense	probably damaging	1.00
R4663:Phf3	UTSW	1	30821215	missense	probably damaging	1.00
R4669:Phf3	UTSW	1	30829946	missense	probably damaging	1.00
R4706:Phf3	UTSW	1	30805606	missense	probably damaging	1.00
R4757:Phf3	UTSW	1	30820827	missense	probably damaging	1.00
R4766:Phf3	UTSW	1	30813939	unclassified	probably benign
R4786:Phf3	UTSW	1	30816557	nonsense	probably null
R5107:Phf3	UTSW	1	30831485	missense	probably benign	0.03
R5155:Phf3	UTSW	1	30824376	missense	possibly damaging	0.87
R5310:Phf3	UTSW	1	30803806	missense	probably damaging	1.00
R5823:Phf3	UTSW	1	30804683	missense	probably damaging	1.00
R5944:Phf3	UTSW	1	30820704	missense	probably damaging	1.00
R5979:Phf3	UTSW	1	30805746	missense	probably damaging	1.00
R6007:Phf3	UTSW	1	30804345	missense	probably damaging	1.00
R6024:Phf3	UTSW	1	30863226	missense	probably damaging	1.00
R6072:Phf3	UTSW	1	30830688	missense	probably benign	0.08
R6533:Phf3	UTSW	1	30806318	missense	probably damaging	1.00
R6649:Phf3	UTSW	1	30805023	missense	possibly damaging	0.75
R6653:Phf3	UTSW	1	30805023	missense	possibly damaging	0.75
R6852:Phf3	UTSW	1	30804630	missense	probably damaging	0.97
R6855:Phf3	UTSW	1	30820123	missense	probably damaging	1.00
R6862:Phf3	UTSW	1	30813982	missense	probably damaging	1.00
R6930:Phf3	UTSW	1	30811877	missense	probably damaging	1.00
R7135:Phf3	UTSW	1	30831109	missense	possibly damaging	0.61
R7323:Phf3	UTSW	1	30813130	missense	probably benign	0.01
R7352:Phf3	UTSW	1	30804326	missense	possibly damaging	0.87
R7455:Phf3	UTSW	1	30837158	missense	probably damaging	0.96
R7549:Phf3	UTSW	1	30831475	missense	probably benign	0.01
R7609:Phf3	UTSW	1	30805501	missense	probably benign	0.05
R7720:Phf3	UTSW	1	30829857	missense	probably damaging	1.00
R7745:Phf3	UTSW	1	30804224	missense	probably damaging	1.00
Z1177:Phf3	UTSW	1	30804295	missense	not run
Z1177:Phf3	UTSW	1	30805051	missense	not run
Z1177:Phf3	UTSW	1	30811968	critical splice acceptor site	unknown

Posted On

2015-04-16