Mutagenetix > Incidental Mutation

Incidental Mutation 'R5570:Phf12'

435623

Institutional Source

Beutler Lab

Gene Symbol

Phf12

Ensembl Gene

ENSMUSG00000037791

Gene Name

PHD finger protein 12

Synonyms

PF1, 2410142K10Rik

MMRRC Submission

043127-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.713) question?

Stock #

R5570 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77873580-77921365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77908937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 339 (D339G)

Ref Sequence

ENSEMBL: ENSMUSP00000103997 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049167] [ENSMUST00000108360]

AlphaFold

Q5SPL2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049167
AA Change: D339G

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000044990
Gene: ENSMUSG00000037791
AA Change: D339G

Domain	Start	End	E-Value	Type
low complexity region	37	52	N/A	INTRINSIC
PHD	58	103	7.23e-11	SMART
low complexity region	182	200	N/A	INTRINSIC
Pfam:PHF12_MRG_bd	202	241	1.3e-21	PFAM
PHD	273	319	1.66e-10	SMART
low complexity region	616	630	N/A	INTRINSIC
Blast:FHA	813	868	9e-34	BLAST
low complexity region	905	916	N/A	INTRINSIC
low complexity region	927	939	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108360
AA Change: D339G

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103997
Gene: ENSMUSG00000037791
AA Change: D339G

Domain	Start	End	E-Value	Type
low complexity region	37	52	N/A	INTRINSIC
PHD	58	103	7.23e-11	SMART
low complexity region	182	200	N/A	INTRINSIC
PDB:2L9S\|A	201	241	2e-20	PDB
PHD	273	319	1.66e-10	SMART
low complexity region	616	630	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrv1	C	A	9: 36,605,577 (GRCm39)	S41R	probably damaging	Het
Aqr	G	A	2: 113,979,451 (GRCm39)	T328M	probably damaging	Het
Arhgap26	C	A	18: 39,232,671 (GRCm39)	D99E	probably damaging	Het
Boc	G	A	16: 44,313,187 (GRCm39)	T559I	probably damaging	Het
Cadps	A	T	14: 12,473,497 (GRCm38)	I876N	possibly damaging	Het
Cep72	T	C	13: 74,188,260 (GRCm39)	Q211R	probably benign	Het
Clmp	T	C	9: 40,683,826 (GRCm39)		probably null	Het
Coq6	T	A	12: 84,415,413 (GRCm39)	D145E	probably benign	Het
Crym	T	C	7: 119,801,116 (GRCm39)	E11G	probably benign	Het
Defb36	T	A	2: 152,454,503 (GRCm39)	V54E	probably damaging	Het
Dlg5	C	A	14: 24,242,981 (GRCm39)	E55*	probably null	Het
Dock2	G	T	11: 34,618,233 (GRCm39)	R128S	probably damaging	Het
E330034G19Rik	A	G	14: 24,346,892 (GRCm39)	K60E	possibly damaging	Het
Eps8l2	G	A	7: 140,934,920 (GRCm39)	R76Q	possibly damaging	Het
Espn	T	C	4: 152,208,237 (GRCm39)	E460G	probably damaging	Het
Fbxl18	A	G	5: 142,881,022 (GRCm39)		probably benign	Het
Fgd5	T	C	6: 91,965,668 (GRCm39)	S476P	probably damaging	Het
Gsto1	T	C	19: 47,846,338 (GRCm39)	W62R	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Gxylt1	A	G	15: 93,152,180 (GRCm39)		probably null	Het
Hs6st1	C	T	1: 36,142,719 (GRCm39)	P218L	probably benign	Het
Kif5c	A	G	2: 49,620,211 (GRCm39)	D226G	possibly damaging	Het
Krt1	A	G	15: 101,755,340 (GRCm39)	F473S	probably benign	Het
Lpxn	T	A	19: 12,810,023 (GRCm39)	M265K	possibly damaging	Het
Map3k9	A	G	12: 81,778,798 (GRCm39)	L505P	possibly damaging	Het
Mcm3ap	C	T	10: 76,316,930 (GRCm39)	R645W	possibly damaging	Het
Msr1	T	C	8: 40,064,760 (GRCm39)	I305V	probably benign	Het
Muc4	A	G	16: 32,598,066 (GRCm39)	E3237G	possibly damaging	Het
Necap1	T	C	6: 122,858,471 (GRCm39)	F105L	probably damaging	Het
Nploc4	C	T	11: 120,275,440 (GRCm39)	V499M	probably benign	Het
Nup93	T	C	8: 95,041,298 (GRCm39)	V812A	probably damaging	Het
Or10ak7	T	A	4: 118,791,263 (GRCm39)	I259F	possibly damaging	Het
Or6e1	A	G	14: 54,519,825 (GRCm39)	F176L	probably damaging	Het
Or9g3	G	A	2: 85,589,994 (GRCm39)	S242F	probably damaging	Het
Parn	G	A	16: 13,483,794 (GRCm39)	P50L	probably damaging	Het
Pcdhb7	T	C	18: 37,477,224 (GRCm39)	C787R	probably benign	Het
Pdk2	A	T	11: 94,920,826 (GRCm39)	I175N	probably damaging	Het
Pelo	T	C	13: 115,226,152 (GRCm39)	I102V	probably benign	Het
Phlpp1	A	T	1: 106,101,162 (GRCm39)	I477F	probably benign	Het
Pigt	T	A	2: 164,343,482 (GRCm39)	Y319*	probably null	Het
Pmpca	A	G	2: 26,280,553 (GRCm39)	E133G	probably damaging	Het
Ptgs2	A	G	1: 149,979,859 (GRCm39)	I321M		Het
Pus7l	G	A	15: 94,425,746 (GRCm39)	P552S	probably benign	Het
Qsox2	A	G	2: 26,115,230 (GRCm39)	M1T	probably null	Het
Rara	C	G	11: 98,863,478 (GRCm39)	R382G	probably damaging	Het
Rbbp6	A	G	7: 122,601,057 (GRCm39)		probably benign	Het
Rev3l	T	C	10: 39,728,071 (GRCm39)		probably null	Het
Robo3	T	A	9: 37,336,571 (GRCm39)	Y399F	possibly damaging	Het
Rpl31	C	T	1: 39,409,108 (GRCm39)	R41C	probably benign	Het
Skint3	A	G	4: 112,092,995 (GRCm39)	M20V	probably benign	Het
Slc17a6	A	G	7: 51,308,504 (GRCm39)	D276G	probably benign	Het
Sult3a2	A	T	10: 33,654,268 (GRCm39)	V128D	probably damaging	Het
Syt3	T	A	7: 44,040,043 (GRCm39)	V92E	possibly damaging	Het
Them7	A	G	2: 105,209,153 (GRCm39)	T158A	probably benign	Het
Utp14b	G	A	1: 78,643,118 (GRCm39)	D339N	probably damaging	Het
Vars1	T	C	17: 35,235,214 (GRCm39)	F1259L	probably benign	Het
Vmn1r115	A	C	7: 20,578,555 (GRCm39)	V119G	possibly damaging	Het
Zc3h12a	C	T	4: 125,014,166 (GRCm39)	R293H	probably damaging	Het
Zfp638	A	T	6: 83,956,170 (GRCm39)	E1592D	probably damaging	Het

Other mutations in Phf12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00826:Phf12	APN	11	77,906,332 (GRCm39)	missense	probably damaging	0.98
IGL00919:Phf12	APN	11	77,874,166 (GRCm39)	missense	probably damaging	1.00
IGL01434:Phf12	APN	11	77,914,385 (GRCm39)	missense	probably damaging	1.00
IGL02219:Phf12	APN	11	77,875,022 (GRCm39)	missense	probably damaging	0.97
IGL02727:Phf12	APN	11	77,914,493 (GRCm39)	missense	possibly damaging	0.83
IGL03064:Phf12	APN	11	77,874,186 (GRCm39)	missense	probably damaging	1.00
IGL03117:Phf12	APN	11	77,913,846 (GRCm39)	unclassified	probably benign
Fossa	UTSW	11	77,897,608 (GRCm39)	missense	probably damaging	0.99
lemur	UTSW	11	77,915,780 (GRCm39)	splice site	probably benign
R0457:Phf12	UTSW	11	77,908,994 (GRCm39)	missense	possibly damaging	0.94
R0477:Phf12	UTSW	11	77,913,896 (GRCm39)	missense	possibly damaging	0.94
R0656:Phf12	UTSW	11	77,920,158 (GRCm39)	missense	probably benign	0.44
R0905:Phf12	UTSW	11	77,900,230 (GRCm39)	nonsense	probably null
R1719:Phf12	UTSW	11	77,914,427 (GRCm39)	missense	probably damaging	1.00
R1742:Phf12	UTSW	11	77,900,312 (GRCm39)	missense	probably benign	0.04
R1826:Phf12	UTSW	11	77,915,780 (GRCm39)	splice site	probably benign
R2270:Phf12	UTSW	11	77,875,001 (GRCm39)	missense	possibly damaging	0.82
R2875:Phf12	UTSW	11	77,900,573 (GRCm39)	missense	probably damaging	1.00
R2885:Phf12	UTSW	11	77,914,595 (GRCm39)	missense	possibly damaging	0.75
R5020:Phf12	UTSW	11	77,914,622 (GRCm39)	missense	probably damaging	1.00
R5573:Phf12	UTSW	11	77,915,871 (GRCm39)	missense	probably damaging	1.00
R5689:Phf12	UTSW	11	77,914,551 (GRCm39)	missense	probably damaging	1.00
R5727:Phf12	UTSW	11	77,914,370 (GRCm39)	missense	probably damaging	1.00
R5807:Phf12	UTSW	11	77,913,252 (GRCm39)	missense	probably benign	0.16
R5910:Phf12	UTSW	11	77,918,224 (GRCm39)	missense	probably damaging	1.00
R6034:Phf12	UTSW	11	77,908,895 (GRCm39)	missense	probably benign	0.08
R6034:Phf12	UTSW	11	77,908,895 (GRCm39)	missense	probably benign	0.08
R6049:Phf12	UTSW	11	77,918,996 (GRCm39)	splice site	probably null
R6052:Phf12	UTSW	11	77,909,044 (GRCm39)	missense	probably benign	0.31
R6056:Phf12	UTSW	11	77,900,341 (GRCm39)	missense	probably benign	0.09
R6208:Phf12	UTSW	11	77,914,417 (GRCm39)	missense	probably damaging	0.97
R6644:Phf12	UTSW	11	77,916,918 (GRCm39)	makesense	probably null
R6805:Phf12	UTSW	11	77,918,199 (GRCm39)	missense	probably damaging	1.00
R6823:Phf12	UTSW	11	77,913,337 (GRCm39)	nonsense	probably null
R7047:Phf12	UTSW	11	77,904,099 (GRCm39)	missense	probably damaging	0.99
R7159:Phf12	UTSW	11	77,914,366 (GRCm39)	missense	possibly damaging	0.76
R7602:Phf12	UTSW	11	77,914,109 (GRCm39)	missense	probably benign
R7618:Phf12	UTSW	11	77,916,960 (GRCm39)	missense	unknown
R8162:Phf12	UTSW	11	77,915,651 (GRCm39)	missense	probably damaging	0.99
R8290:Phf12	UTSW	11	77,920,465 (GRCm39)	missense	probably benign	0.02
R8544:Phf12	UTSW	11	77,918,235 (GRCm39)	missense	probably damaging	0.99
R8834:Phf12	UTSW	11	77,897,608 (GRCm39)	missense	probably damaging	0.99
R9018:Phf12	UTSW	11	77,914,510 (GRCm39)	missense	possibly damaging	0.51
X0013:Phf12	UTSW	11	77,900,617 (GRCm39)	missense	probably damaging	1.00
X0027:Phf12	UTSW	11	77,919,721 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- AAGGCATTTCCAGGCTACTTC -3'
(R):5'- TACTTGCCGAGACACCAAAG -3'

Sequencing Primer
(F):5'- CACAAAAGCAGGTGTTTCCTTACTC -3'
(R):5'- GACATATCTTACTGAAAGGGCTGTG -3'

Posted On

2016-10-24