Mutagenetix > Incidental Mutation

Incidental Mutation 'R6930:Phf3'

539918

Institutional Source

Beutler Lab

Gene Symbol

Phf3

Ensembl Gene

ENSMUSG00000048874

Gene Name

PHD finger protein 3

Synonyms

AU020177, 2310061N19Rik

MMRRC Submission

045046-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6930 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30841417-30912989 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30850958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1132 (E1132G)

Ref Sequence

ENSEMBL: ENSMUSP00000139610 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088310] [ENSMUST00000186733] [ENSMUST00000191329]

AlphaFold

B2RQG2

Predicted Effect

probably damaging
Transcript: ENSMUST00000088310
AA Change: E1132G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000085650
Gene: ENSMUSG00000048874
AA Change: E1132G

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

probably damaging
Transcript: ENSMUST00000186733
AA Change: E1132G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139610
Gene: ENSMUSG00000048874
AA Change: E1132G

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

probably benign
Transcript: ENSMUST00000191329

SMART Domains

Protein: ENSMUSP00000139662
Gene: ENSMUSG00000048874

Domain	Start	End	E-Value	Type
Pfam:SPOC	1	88	1.9e-17	PFAM

Meta Mutation Damage Score

0.1130

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.5%

Validation Efficiency

100% (63/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	T	11: 23,466,563 (GRCm39)	D156E	probably benign	Het
Adam17	A	T	12: 21,403,949 (GRCm39)	V99E	probably damaging	Het
Akr1e1	T	C	13: 4,652,714 (GRCm39)	D41G	probably damaging	Het
Alcam	T	C	16: 52,126,018 (GRCm39)	I100V	probably benign	Het
Atr	T	C	9: 95,748,688 (GRCm39)	I411T	probably benign	Het
Bbs4	T	C	9: 59,230,764 (GRCm39)	S453G	probably benign	Het
Brdt	C	T	5: 107,507,081 (GRCm39)	L494F	probably benign	Het
Ccser1	T	C	6: 62,357,009 (GRCm39)	S816P	probably benign	Het
Cdk10	T	C	8: 123,957,347 (GRCm39)	I157T	probably damaging	Het
Ceacam5	G	A	7: 17,484,759 (GRCm39)		probably null	Het
Chst15	T	C	7: 131,870,759 (GRCm39)	I259V	possibly damaging	Het
Cracdl	A	T	1: 37,664,026 (GRCm39)	I624N	possibly damaging	Het
Csmd1	A	T	8: 16,142,409 (GRCm39)	M1498K	probably damaging	Het
D630045J12Rik	T	C	6: 38,135,151 (GRCm39)	D1343G	probably damaging	Het
Denr	T	C	5: 124,046,250 (GRCm39)	Y27H	probably benign	Het
Dop1a	T	C	9: 86,413,825 (GRCm39)		probably null	Het
Epg5	T	C	18: 78,057,378 (GRCm39)	F1819S	probably damaging	Het
Flg2	T	A	3: 93,108,642 (GRCm39)	Y223*	probably null	Het
Fry	T	C	5: 150,351,695 (GRCm39)	L1733P	probably benign	Het
Gabrb2	T	C	11: 42,488,440 (GRCm39)	V302A	probably damaging	Het
Gimap9	G	A	6: 48,654,601 (GRCm39)	D53N	probably damaging	Het
Gje1	G	T	10: 14,593,886 (GRCm39)	L3I	possibly damaging	Het
Gm49383	G	T	12: 69,239,586 (GRCm39)	A645E	probably damaging	Het
Gm8947	G	A	1: 151,068,347 (GRCm39)	G60D	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gys2	A	G	6: 142,405,106 (GRCm39)		probably null	Het
Hace1	A	G	10: 45,494,598 (GRCm39)	H136R	probably damaging	Het
Herc3	T	G	6: 58,893,444 (GRCm39)	V902G	probably damaging	Het
Hspbp1	T	C	7: 4,687,606 (GRCm39)	R2G	probably benign	Het
Iqch	T	A	9: 63,387,856 (GRCm39)	K811N	possibly damaging	Het
Kmt2a	A	G	9: 44,753,962 (GRCm39)		probably benign	Het
Lonrf2	A	T	1: 38,843,417 (GRCm39)	V372D	probably benign	Het
Lpin2	T	C	17: 71,551,786 (GRCm39)	Y729H	probably damaging	Het
Lrrc32	A	G	7: 98,148,471 (GRCm39)	N417S	possibly damaging	Het
Malrd1	T	A	2: 15,802,478 (GRCm39)	C1064S	unknown	Het
Mast3	G	A	8: 71,252,115 (GRCm39)	R20*	probably null	Het
Mypn	A	C	10: 62,952,718 (GRCm39)	I174S	probably damaging	Het
Nrg1	G	A	8: 32,308,534 (GRCm39)	T505M	probably damaging	Het
Or13p8	A	G	4: 118,584,338 (GRCm39)	K298R	probably damaging	Het
Or6y1	A	G	1: 174,276,677 (GRCm39)	I163V	probably damaging	Het
Or7a42	A	G	10: 78,791,615 (GRCm39)	D192G	possibly damaging	Het
Or7e178	A	G	9: 20,225,395 (GRCm39)	Y266H	probably damaging	Het
Pla2g4d	A	T	2: 120,101,114 (GRCm39)	M521K	probably damaging	Het
Plekhg1	A	G	10: 3,913,770 (GRCm39)	H1164R	possibly damaging	Het
Plxnb2	A	G	15: 89,044,592 (GRCm39)	V1218A	probably benign	Het
Pold1	A	G	7: 44,191,630 (GRCm39)	S119P	probably benign	Het
Pole	T	A	5: 110,441,156 (GRCm39)	D203E	probably benign	Het
Rapgefl1	T	A	11: 98,737,947 (GRCm39)	L387Q	probably damaging	Het
Rbm33	T	C	5: 28,557,504 (GRCm39)	I199T	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Rufy1	C	A	11: 50,289,207 (GRCm39)	R545L	probably benign	Het
Ryr3	T	A	2: 112,690,699 (GRCm39)	D1117V	probably damaging	Het
Sap130	T	C	18: 31,815,141 (GRCm39)	V621A	possibly damaging	Het
Sparcl1	T	A	5: 104,234,940 (GRCm39)	Y525F	probably damaging	Het
Spon2	A	G	5: 33,373,771 (GRCm39)	V180A	probably benign	Het
Trav10n	G	A	14: 53,359,947 (GRCm39)	V75M	probably benign	Het
Ttc34	T	C	4: 154,923,543 (GRCm39)	L84P	probably damaging	Het
Vmn1r23	C	T	6: 57,903,130 (GRCm39)	R216K	probably benign	Het
Vmn2r61	A	G	7: 41,949,364 (GRCm39)	T595A	probably benign	Het
Vmn2r66	T	A	7: 84,661,216 (GRCm39)	I5F	possibly damaging	Het
Zfp879	C	T	11: 50,723,839 (GRCm39)	G406R	probably damaging	Het
Zic2	A	T	14: 122,713,869 (GRCm39)	D261V	probably damaging	Het

Other mutations in Phf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Phf3	APN	1	30,850,928 (GRCm39)	missense	probably damaging	0.99
IGL00704:Phf3	APN	1	30,843,919 (GRCm39)	missense	probably benign
IGL01147:Phf3	APN	1	30,843,250 (GRCm39)	missense	probably damaging	1.00
IGL01360:Phf3	APN	1	30,847,809 (GRCm39)	missense	probably damaging	1.00
IGL01376:Phf3	APN	1	30,869,566 (GRCm39)	missense	possibly damaging	0.62
IGL01396:Phf3	APN	1	30,843,386 (GRCm39)	nonsense	probably null
IGL01830:Phf3	APN	1	30,853,148 (GRCm39)	nonsense	probably null
IGL02108:Phf3	APN	1	30,869,032 (GRCm39)	missense	probably damaging	1.00
IGL02156:Phf3	APN	1	30,847,859 (GRCm39)	missense	probably damaging	1.00
IGL02576:Phf3	APN	1	30,869,117 (GRCm39)	missense	probably benign	0.01
IGL03031:Phf3	APN	1	30,843,734 (GRCm39)	missense	probably benign	0.00
IGL03334:Phf3	APN	1	30,844,810 (GRCm39)	missense	probably damaging	0.99
IGL03411:Phf3	APN	1	30,843,482 (GRCm39)	missense	probably damaging	1.00
FR4976:Phf3	UTSW	1	30,844,104 (GRCm39)	utr 3 prime	probably benign
PIT4458001:Phf3	UTSW	1	30,855,622 (GRCm39)	missense	probably damaging	1.00
R0037:Phf3	UTSW	1	30,843,999 (GRCm39)	missense	probably benign	0.03
R0052:Phf3	UTSW	1	30,847,848 (GRCm39)	missense	probably damaging	1.00
R0114:Phf3	UTSW	1	30,844,524 (GRCm39)	missense	possibly damaging	0.87
R0123:Phf3	UTSW	1	30,844,146 (GRCm39)	missense	probably benign	0.01
R0225:Phf3	UTSW	1	30,844,146 (GRCm39)	missense	probably benign	0.01
R0715:Phf3	UTSW	1	30,850,919 (GRCm39)	missense	probably damaging	1.00
R0835:Phf3	UTSW	1	30,869,632 (GRCm39)	missense	probably benign	0.02
R0848:Phf3	UTSW	1	30,902,253 (GRCm39)	missense	probably damaging	1.00
R1473:Phf3	UTSW	1	30,845,021 (GRCm39)	missense	probably damaging	1.00
R1522:Phf3	UTSW	1	30,844,729 (GRCm39)	missense	probably benign	0.05
R1549:Phf3	UTSW	1	30,843,923 (GRCm39)	missense	probably benign	0.00
R1555:Phf3	UTSW	1	30,844,958 (GRCm39)	missense	possibly damaging	0.86
R1780:Phf3	UTSW	1	30,851,023 (GRCm39)	missense	probably damaging	1.00
R1789:Phf3	UTSW	1	30,845,287 (GRCm39)	missense	probably damaging	1.00
R1875:Phf3	UTSW	1	30,869,704 (GRCm39)	missense	possibly damaging	0.81
R1912:Phf3	UTSW	1	30,843,426 (GRCm39)	missense	probably damaging	1.00
R1957:Phf3	UTSW	1	30,870,601 (GRCm39)	missense	probably damaging	1.00
R2019:Phf3	UTSW	1	30,850,928 (GRCm39)	missense	probably damaging	0.99
R2259:Phf3	UTSW	1	30,843,424 (GRCm39)	missense	probably benign	0.20
R2305:Phf3	UTSW	1	30,844,556 (GRCm39)	nonsense	probably null
R2345:Phf3	UTSW	1	30,844,432 (GRCm39)	nonsense	probably null
R2424:Phf3	UTSW	1	30,845,430 (GRCm39)	missense	probably damaging	1.00
R2497:Phf3	UTSW	1	30,869,095 (GRCm39)	missense	probably damaging	1.00
R2504:Phf3	UTSW	1	30,849,870 (GRCm39)	missense	probably damaging	1.00
R3522:Phf3	UTSW	1	30,844,684 (GRCm39)	missense	probably damaging	1.00
R3816:Phf3	UTSW	1	30,844,834 (GRCm39)	missense	probably damaging	1.00
R4152:Phf3	UTSW	1	30,870,539 (GRCm39)	missense	probably benign	0.13
R4403:Phf3	UTSW	1	30,843,490 (GRCm39)	missense	probably damaging	1.00
R4658:Phf3	UTSW	1	30,902,169 (GRCm39)	missense	probably damaging	1.00
R4663:Phf3	UTSW	1	30,860,296 (GRCm39)	missense	probably damaging	1.00
R4669:Phf3	UTSW	1	30,869,027 (GRCm39)	missense	probably damaging	1.00
R4706:Phf3	UTSW	1	30,844,687 (GRCm39)	missense	probably damaging	1.00
R4757:Phf3	UTSW	1	30,859,908 (GRCm39)	missense	probably damaging	1.00
R4766:Phf3	UTSW	1	30,853,020 (GRCm39)	unclassified	probably benign
R4786:Phf3	UTSW	1	30,855,638 (GRCm39)	nonsense	probably null
R5107:Phf3	UTSW	1	30,870,566 (GRCm39)	missense	probably benign	0.03
R5155:Phf3	UTSW	1	30,863,457 (GRCm39)	missense	possibly damaging	0.87
R5310:Phf3	UTSW	1	30,842,887 (GRCm39)	missense	probably damaging	1.00
R5823:Phf3	UTSW	1	30,843,764 (GRCm39)	missense	probably damaging	1.00
R5944:Phf3	UTSW	1	30,859,785 (GRCm39)	missense	probably damaging	1.00
R5979:Phf3	UTSW	1	30,844,827 (GRCm39)	missense	probably damaging	1.00
R6007:Phf3	UTSW	1	30,843,426 (GRCm39)	missense	probably damaging	1.00
R6024:Phf3	UTSW	1	30,902,307 (GRCm39)	missense	probably damaging	1.00
R6072:Phf3	UTSW	1	30,869,769 (GRCm39)	missense	probably benign	0.08
R6533:Phf3	UTSW	1	30,845,399 (GRCm39)	missense	probably damaging	1.00
R6649:Phf3	UTSW	1	30,844,104 (GRCm39)	missense	possibly damaging	0.75
R6653:Phf3	UTSW	1	30,844,104 (GRCm39)	missense	possibly damaging	0.75
R6852:Phf3	UTSW	1	30,843,711 (GRCm39)	missense	probably damaging	0.97
R6855:Phf3	UTSW	1	30,859,204 (GRCm39)	missense	probably damaging	1.00
R6862:Phf3	UTSW	1	30,853,063 (GRCm39)	missense	probably damaging	1.00
R7135:Phf3	UTSW	1	30,870,190 (GRCm39)	missense	possibly damaging	0.61
R7323:Phf3	UTSW	1	30,852,211 (GRCm39)	missense	probably benign	0.01
R7352:Phf3	UTSW	1	30,843,407 (GRCm39)	missense	possibly damaging	0.87
R7455:Phf3	UTSW	1	30,876,239 (GRCm39)	missense	probably damaging	0.96
R7549:Phf3	UTSW	1	30,870,556 (GRCm39)	missense	probably benign	0.01
R7609:Phf3	UTSW	1	30,844,582 (GRCm39)	missense	probably benign	0.05
R7720:Phf3	UTSW	1	30,868,938 (GRCm39)	missense	probably damaging	1.00
R7745:Phf3	UTSW	1	30,843,305 (GRCm39)	missense	probably damaging	1.00
R8134:Phf3	UTSW	1	30,863,552 (GRCm39)	missense	unknown
R8264:Phf3	UTSW	1	30,870,138 (GRCm39)	missense	possibly damaging	0.48
R8545:Phf3	UTSW	1	30,863,391 (GRCm39)	missense	possibly damaging	0.48
R8821:Phf3	UTSW	1	30,860,347 (GRCm39)	nonsense	probably null
R8831:Phf3	UTSW	1	30,860,347 (GRCm39)	nonsense	probably null
R8873:Phf3	UTSW	1	30,843,773 (GRCm39)	missense	possibly damaging	0.74
R9101:Phf3	UTSW	1	30,843,026 (GRCm39)	missense	possibly damaging	0.56
R9402:Phf3	UTSW	1	30,850,928 (GRCm39)	missense	probably damaging	0.99
R9426:Phf3	UTSW	1	30,870,625 (GRCm39)	nonsense	probably null
R9594:Phf3	UTSW	1	30,869,003 (GRCm39)	missense	probably benign	0.07
R9707:Phf3	UTSW	1	30,868,923 (GRCm39)	critical splice donor site	probably null
R9803:Phf3	UTSW	1	30,869,872 (GRCm39)	missense	probably benign	0.16
Z1177:Phf3	UTSW	1	30,851,049 (GRCm39)	critical splice acceptor site	probably null
Z1177:Phf3	UTSW	1	30,844,132 (GRCm39)	missense	unknown
Z1177:Phf3	UTSW	1	30,843,376 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCATTGGCCTGGGGTATAC -3'
(R):5'- CCTTCACAGTGTGAGGAAACC -3'

Sequencing Primer
(F):5'- GCCTGGGGTATACATAGTCAC -3'
(R):5'- CAGTGTGAGGAAACCACATTTC -3'

Posted On

2018-11-06