Mutagenetix > Incidental Mutation

Incidental Mutation 'R8545:Phf3'

659572

Institutional Source

Beutler Lab

Gene Symbol

Phf3

Ensembl Gene

ENSMUSG00000048874

Gene Name

PHD finger protein 3

Synonyms

AU020177, 2310061N19Rik

MMRRC Submission

068510-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8545 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30841417-30912989 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30863391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 778 (M778K)

Ref Sequence

ENSEMBL: ENSMUSP00000139610 (fasta)

Gene Model

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

AlphaFold

B2RQG2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088310
AA Change: M778K

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000085650
Gene: ENSMUSG00000048874
AA Change: M778K

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

possibly damaging
Transcript: ENSMUST00000186733
AA Change: M778K

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000139610
Gene: ENSMUSG00000048874
AA Change: M778K

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: ENSMUST00000191064

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.7%
20x: 99.3%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,236,794 (GRCm39)	Y1779C	probably damaging	Het
Apc	A	G	18: 34,450,084 (GRCm39)	N2293D	possibly damaging	Het
Arhgap30	T	C	1: 171,234,998 (GRCm39)	L488P	probably damaging	Het
Arhgap31	T	A	16: 38,423,408 (GRCm39)	Q886L	probably damaging	Het
Arhgef10	T	G	8: 14,978,868 (GRCm39)	V45G	probably benign	Het
Arhgef10	A	G	8: 15,025,931 (GRCm39)	T812A	possibly damaging	Het
Bbs2	T	C	8: 94,813,352 (GRCm39)	S246G	probably benign	Het
Cby3	T	C	11: 50,250,243 (GRCm39)	S150P	probably benign	Het
Cdc40	A	G	10: 40,723,939 (GRCm39)	V283A	probably benign	Het
Cox15	A	T	19: 43,728,421 (GRCm39)	V284E	probably damaging	Het
Cyp4a12b	A	T	4: 115,290,227 (GRCm39)	H260L	probably benign	Het
Dph6	G	A	2: 114,478,248 (GRCm39)	A31V	probably damaging	Het
Dsc2	G	A	18: 20,167,722 (GRCm39)	Q123*	probably null	Het
Eftud2	A	G	11: 102,731,097 (GRCm39)	F810S	probably damaging	Het
Erich3	A	T	3: 154,467,996 (GRCm39)		probably benign	Het
Gm49368	T	C	7: 127,679,433 (GRCm39)	Y192H	probably damaging	Het
Herc1	T	A	9: 66,279,257 (GRCm39)	L55*	probably null	Het
Hgsnat	T	C	8: 26,445,707 (GRCm39)	T396A	probably benign	Het
Il17rd	T	G	14: 26,813,886 (GRCm39)	F55C	probably damaging	Het
Mad1l1	A	C	5: 140,286,249 (GRCm39)	M250R	probably benign	Het
Muc15	A	T	2: 110,561,581 (GRCm39)	K6*	probably null	Het
Muc2	A	G	7: 141,306,130 (GRCm39)	N273S	unknown	Het
Myh1	T	A	11: 67,093,027 (GRCm39)	Y78N	probably benign	Het
Pcdh20	T	A	14: 88,706,601 (GRCm39)	H233L	probably damaging	Het
Pcnx4	G	A	12: 72,602,856 (GRCm39)	A373T	probably benign	Het
Pigg	A	T	5: 108,489,726 (GRCm39)	D644V	probably damaging	Het
Rnf148	A	T	6: 23,654,570 (GRCm39)	I142N	probably damaging	Het
Ryr1	T	C	7: 28,704,239 (GRCm39)		probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Tapbp	A	G	17: 34,139,291 (GRCm39)	M87V	possibly damaging	Het
Tbccd1	T	C	16: 22,652,779 (GRCm39)	Y114C	probably benign	Het
Tet1	A	T	10: 62,648,718 (GRCm39)	W1905R	probably damaging	Het
Tmem109	G	A	19: 10,851,734 (GRCm39)	R37*	probably null	Het
Wdfy4	T	C	14: 32,800,258 (GRCm39)	Y1802C	probably benign	Het
Zbtb17	CCCCCACCTCCACAGACCCCA	CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA	4: 141,194,139 (GRCm39)		probably benign	Het
Zcchc4	G	A	5: 52,976,741 (GRCm39)		probably benign	Het
Zfp646	T	C	7: 127,484,662 (GRCm39)	S1772P	probably benign	Het
Zfp820	A	G	17: 22,038,438 (GRCm39)	C297R	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
R6930:Phf3	UTSW	1	30,850,958 (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
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'- TCAACAGAATTGGTCCCCTCC -3'
(R):5'- CATGGAGACTGTGTTGGATTAAGTC -3'

Sequencing Primer
(F):5'- ACGTACACTGTAATAGACATGACAG -3'
(R):5'- GTCTTTCTCAAGCACAGCAAATGG -3'

Posted On

2021-01-18