Mutagenetix > Incidental Mutation

Incidental Mutation 'R2270:Phf12'

242408

Institutional Source

Beutler Lab

Gene Symbol

Phf12

Ensembl Gene

ENSMUSG00000037791

Gene Name

PHD finger protein 12

Synonyms

PF1, 2410142K10Rik

MMRRC Submission

040270-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.704) question?

Stock #

R2270 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77873580-77921365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 77875001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 76 (A76S)

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: A76S

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044990
Gene: ENSMUSG00000037791
AA Change: A76S

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: A76S

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103997
Gene: ENSMUSG00000037791
AA Change: A76S

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: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	G	A	19: 57,065,863 (GRCm39)	R54W	possibly damaging	Het
Adam22	T	C	5: 8,171,108 (GRCm39)	E614G	probably damaging	Het
Ap4e1	T	C	2: 126,889,083 (GRCm39)		probably null	Het
Arid3c	T	A	4: 41,724,744 (GRCm39)	I364F	probably damaging	Het
Atp11b	A	G	3: 35,864,283 (GRCm39)		probably null	Het
Bmal2	T	C	6: 146,723,612 (GRCm39)	F314S	probably damaging	Het
Carnmt1	T	C	19: 18,680,734 (GRCm39)	L336P	probably damaging	Het
Cdh22	A	T	2: 164,985,767 (GRCm39)		probably null	Het
Cdk5rap2	A	C	4: 70,184,915 (GRCm39)	S1178R	probably benign	Het
Chat	T	C	14: 32,176,538 (GRCm39)	R79G	probably damaging	Het
Chek1	A	G	9: 36,630,982 (GRCm39)	L144P	probably damaging	Het
Cracr2a	T	A	6: 127,584,261 (GRCm39)	F107I	probably damaging	Het
Crip2	A	C	12: 113,108,486 (GRCm39)	K62N	probably damaging	Het
Ddc	T	C	11: 11,785,764 (GRCm39)	N308D	probably damaging	Het
Dnm3	A	T	1: 162,305,358 (GRCm39)	L12Q	probably damaging	Het
Eftud2	T	C	11: 102,755,607 (GRCm39)	N200S	probably damaging	Het
Fgfbp1	T	A	5: 44,136,672 (GRCm39)	M207L	probably benign	Het
Fry	A	G	5: 150,324,389 (GRCm39)	I1151V	probably null	Het
Garem2	T	G	5: 30,321,972 (GRCm39)	L777R	probably damaging	Het
Garin5b	T	A	7: 4,761,186 (GRCm39)	T509S	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gpr143	T	A	X: 151,573,566 (GRCm39)	V181E	probably damaging	Het
Gtf2f1	T	C	17: 57,310,462 (GRCm39)	I498V	probably null	Het
Ipo4	A	G	14: 55,871,557 (GRCm39)	L168P	probably damaging	Het
Ism1	T	A	2: 139,599,293 (GRCm39)	I415N	probably damaging	Het
Lipa	T	A	19: 34,488,290 (GRCm39)	R119*	probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mre11a	A	G	9: 14,726,470 (GRCm39)	E411G	probably benign	Het
Mybpc1	C	A	10: 88,387,269 (GRCm39)	V106F	probably benign	Het
Myo5b	G	T	18: 74,866,996 (GRCm39)	L1382F	probably damaging	Het
N4bp3	A	T	11: 51,535,132 (GRCm39)	N352K	probably benign	Het
Ncbp2	T	C	16: 31,775,769 (GRCm39)	Y138H	probably damaging	Het
Ncor2	A	G	5: 125,115,019 (GRCm39)	V515A	probably benign	Het
Ndufv1	C	A	19: 4,058,347 (GRCm39)	R359L	probably benign	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Olfm4	C	A	14: 80,249,315 (GRCm39)	T144K	probably damaging	Het
Or11g25	G	T	14: 50,723,494 (GRCm39)	C193F	probably damaging	Het
Or8b12i	T	A	9: 20,082,705 (GRCm39)	H54L	possibly damaging	Het
Pes1	C	A	11: 3,919,524 (GRCm39)	L66I	probably damaging	Het
Plb1	G	T	5: 32,450,586 (GRCm39)	D376Y	probably damaging	Het
Prkdc	A	G	16: 15,472,681 (GRCm39)		probably null	Het
Prkg1	A	G	19: 30,556,031 (GRCm39)	V610A	probably benign	Het
Prrc2a	T	C	17: 35,368,512 (GRCm39)	T2104A	possibly damaging	Het
Rab3gap2	T	A	1: 185,015,739 (GRCm39)		probably null	Het
Ranbp2	T	C	10: 58,291,749 (GRCm39)	V252A	probably benign	Het
Rcn3	A	G	7: 44,738,075 (GRCm39)	S98P	probably damaging	Het
Rere	T	C	4: 150,561,837 (GRCm39)	S248P	unknown	Het
Rnaseh2a	T	C	8: 85,692,048 (GRCm39)	E75G	probably benign	Het
Slc15a1	A	T	14: 121,717,406 (GRCm39)	M292K	probably damaging	Het
Slc1a2	T	G	2: 102,566,339 (GRCm39)	L14R	probably damaging	Het
Slfn2	C	T	11: 82,960,761 (GRCm39)	R247C	probably damaging	Het
Ttn	T	C	2: 76,778,708 (GRCm39)	I1218M	probably damaging	Het
Usp7	T	C	16: 8,516,333 (GRCm39)	S649G	probably benign	Het
Yme1l1	T	C	2: 23,065,232 (GRCm39)	I247T	possibly damaging	Het
Zc3h13	T	C	14: 75,569,587 (GRCm39)	M1478T	probably benign	Het
Zfp444	T	C	7: 6,192,554 (GRCm39)	C191R	probably damaging	Het
Zfp729b	A	T	13: 67,740,352 (GRCm39)	C648S	probably damaging	Het
Znhit2	A	G	19: 6,111,261 (GRCm39)	E2G	probably damaging	Het
Zpbp	A	T	11: 11,368,272 (GRCm39)	M133K	probably benign	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
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
R5570:Phf12	UTSW	11	77,908,937 (GRCm39)	missense	possibly damaging	0.89
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'- GTGTGCAGCAAATCCAAGCTC -3'
(R):5'- AATCTCAGATGGGGCTCACC -3'

Sequencing Primer
(F):5'- GCAAATCCAAGCTCTGCTGG -3'
(R):5'- TTCCCGCAAATTGGCCG -3'

Posted On

2014-10-16