Mutagenetix > Incidental Mutation

Incidental Mutation 'R5910:Phf12'

460942

Institutional Source

Beutler Lab

Gene Symbol

Phf12

Ensembl Gene

ENSMUSG00000037791

Gene Name

PHD finger protein 12

Synonyms

PF1, 2410142K10Rik

MMRRC Submission

044107-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.713) question?

Stock #

R5910 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77873580-77921365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 77918224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 812 (R812Q)

Ref Sequence

ENSEMBL: ENSMUSP00000044990 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021187] [ENSMUST00000049167] [ENSMUST00000092881] [ENSMUST00000108360] [ENSMUST00000122342] [ENSMUST00000131680] [ENSMUST00000144028] [ENSMUST00000153428]

AlphaFold

Q5SPL2

Predicted Effect

probably benign
Transcript: ENSMUST00000021187

SMART Domains

Protein: ENSMUSP00000021187
Gene: ENSMUSG00000020834

Domain	Start	End	E-Value	Type
low complexity region	4	23	N/A	INTRINSIC
Pfam:KR	37	176	1.6e-10	PFAM
Pfam:adh_short	37	238	6e-32	PFAM
Pfam:Epimerase	39	256	3.4e-7	PFAM
low complexity region	317	342	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000049167
AA Change: R812Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044990
Gene: ENSMUSG00000037791
AA Change: R812Q

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

probably benign
Transcript: ENSMUST00000092881

SMART Domains

Protein: ENSMUSP00000090557
Gene: ENSMUSG00000020834

Domain	Start	End	E-Value	Type
low complexity region	4	23	N/A	INTRINSIC
Pfam:adh_short	37	111	3.2e-9	PFAM
Pfam:NAD_binding_10	39	116	7.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108360

SMART Domains

Protein: ENSMUSP00000103997
Gene: ENSMUSG00000037791

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

Predicted Effect

probably benign
Transcript: ENSMUST00000122342

SMART Domains

Protein: ENSMUSP00000112553
Gene: ENSMUSG00000020834

Domain	Start	End	E-Value	Type
Pfam:adh_short	1	131	9.1e-17	PFAM
low complexity region	267	292	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123662

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125079

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150471

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141620

Predicted Effect

probably benign
Transcript: ENSMUST00000131680

Predicted Effect

probably benign
Transcript: ENSMUST00000144028

Predicted Effect

probably benign
Transcript: ENSMUST00000153747

Predicted Effect

probably benign
Transcript: ENSMUST00000153428

SMART Domains

Protein: ENSMUSP00000119390
Gene: ENSMUSG00000037791

Domain	Start	End	E-Value	Type
low complexity region	67	81	N/A	INTRINSIC

Meta Mutation Damage Score

0.8554

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

95% (93/98)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,645,076 (GRCm39)	N976D	probably damaging	Het
Adamts1	G	A	16: 85,599,037 (GRCm39)	R188W	probably benign	Het
Adcy4	A	T	14: 56,016,470 (GRCm39)	V327D	probably damaging	Het
Alg8	T	C	7: 97,039,493 (GRCm39)	I408T	possibly damaging	Het
Ankib1	T	C	5: 3,743,217 (GRCm39)	S933G	probably benign	Het
Ap2a2	A	G	7: 141,178,691 (GRCm39)	D106G	probably damaging	Het
Arhgap22	A	T	14: 33,088,572 (GRCm39)	H351L	probably damaging	Het
Arhgef2	A	G	3: 88,542,327 (GRCm39)	Y310C	probably damaging	Het
Atm	A	T	9: 53,359,380 (GRCm39)	S2804R	probably damaging	Het
Baz2b	A	G	2: 59,807,770 (GRCm39)	L163P	possibly damaging	Het
Bcl2l12	C	T	7: 44,645,967 (GRCm39)		probably null	Het
Cdh23	A	G	10: 60,213,600 (GRCm39)	V1495A	possibly damaging	Het
Cep78	A	G	19: 15,946,492 (GRCm39)	S447P	possibly damaging	Het
Cfap43	G	A	19: 47,768,710 (GRCm39)	T778I	possibly damaging	Het
Cfap54	A	T	10: 92,901,043 (GRCm39)	N170K	probably damaging	Het
Cmya5	A	T	13: 93,229,151 (GRCm39)	L1979Q	probably damaging	Het
Col15a1	A	T	4: 47,289,514 (GRCm39)	E846D	probably damaging	Het
Col5a1	A	G	2: 27,926,900 (GRCm39)	K308E	possibly damaging	Het
Dcst1	T	A	3: 89,257,731 (GRCm39)	T680S	possibly damaging	Het
Dsp	T	C	13: 38,376,445 (GRCm39)	L1410P	possibly damaging	Het
Edem3	T	A	1: 151,646,578 (GRCm39)		probably null	Het
Efcab3	A	T	11: 104,581,760 (GRCm39)	E34V	probably benign	Het
Eif4e2	T	A	1: 87,148,696 (GRCm39)	Y64N	probably damaging	Het
Fcgbp	C	T	7: 27,784,928 (GRCm39)		probably benign	Het
Gm7275	A	T	16: 47,893,826 (GRCm39)		noncoding transcript	Het
Grin3b	G	T	10: 79,808,855 (GRCm39)	V202L	probably benign	Het
Gsdmc4	G	A	15: 63,767,101 (GRCm39)	S223F	possibly damaging	Het
H2bc14	A	G	13: 21,906,470 (GRCm39)	N68S	probably benign	Het
Hbp1	T	C	12: 31,987,651 (GRCm39)	H183R	probably benign	Het
Hectd3	A	G	4: 116,859,331 (GRCm39)	M652V	probably benign	Het
Hmgxb4	T	C	8: 75,726,193 (GRCm39)	F13L	probably benign	Het
Hnrnpab	T	C	11: 51,492,281 (GRCm39)	K271R	probably benign	Het
Ilvbl	A	T	10: 78,412,947 (GRCm39)	K156N	probably benign	Het
Iqce	A	T	5: 140,687,973 (GRCm39)		probably benign	Het
Itpr2	C	A	6: 146,231,069 (GRCm39)	V1194L	probably benign	Het
Kif18b	A	G	11: 102,804,370 (GRCm39)	F384L	probably benign	Het
Klf14	A	G	6: 30,934,774 (GRCm39)	Y287H	probably benign	Het
Klhl6	A	G	16: 19,775,844 (GRCm39)	M238T	probably benign	Het
Lbp	G	A	2: 158,166,477 (GRCm39)	V344I	probably benign	Het
Lrp12	T	C	15: 39,739,439 (GRCm39)		probably null	Het
Mapk7	T	A	11: 61,384,447 (GRCm39)	M1L	probably benign	Het
Muc5b	A	G	7: 141,415,048 (GRCm39)	T2665A	possibly damaging	Het
Ncln	A	T	10: 81,331,912 (GRCm39)		probably null	Het
Nfxl1	T	C	5: 72,697,708 (GRCm39)	R347G	probably benign	Het
Npnt	C	A	3: 132,612,179 (GRCm39)	C231F	probably damaging	Het
Nrap	T	A	19: 56,330,743 (GRCm39)	H1070L	probably benign	Het
Nrxn1	G	T	17: 91,011,746 (GRCm39)	Y294*	probably null	Het
Or4c126	A	G	2: 89,823,782 (GRCm39)	D15G	probably benign	Het
Or9s27	T	C	1: 92,516,429 (GRCm39)	Y126H	probably damaging	Het
Otog	A	G	7: 45,948,022 (GRCm39)	H2341R	possibly damaging	Het
Paqr3	T	C	5: 97,243,887 (GRCm39)		probably null	Het
Pcdhb11	T	C	18: 37,556,796 (GRCm39)	F709L	probably benign	Het
Polr2a	A	T	11: 69,637,696 (GRCm39)	L216Q	probably damaging	Het
Polrmt	A	G	10: 79,579,331 (GRCm39)	L140P	probably benign	Het
Pou2f3	C	T	9: 43,045,769 (GRCm39)		probably null	Het
Prkcd	A	T	14: 30,317,938 (GRCm39)	N548K	probably benign	Het
Pygb	A	G	2: 150,657,620 (GRCm39)	D361G	probably benign	Het
Rpl9	A	T	5: 65,546,044 (GRCm39)		probably benign	Het
Rubcnl	A	T	14: 75,272,912 (GRCm39)	T211S	probably benign	Het
Rusc1	C	T	3: 88,999,027 (GRCm39)	G252S	probably benign	Het
Scnn1g	A	G	7: 121,337,318 (GRCm39)	T60A	probably damaging	Het
Sipa1l2	T	G	8: 126,218,423 (GRCm39)	T305P	probably benign	Het
Slc18b1	T	A	10: 23,700,565 (GRCm39)		probably benign	Het
Sp100	G	A	1: 85,608,861 (GRCm39)		probably null	Het
Tekt5	A	T	16: 10,205,017 (GRCm39)		probably null	Het
Tlnrd1	T	A	7: 83,533,693 (GRCm39)		probably benign	Het
Tpcn1	A	G	5: 120,685,462 (GRCm39)		probably benign	Het
Tpcn2	T	C	7: 144,814,719 (GRCm39)	I461V	probably benign	Het
Traf3ip1	A	G	1: 91,455,467 (GRCm39)	K643E	probably damaging	Het
Trim33	T	C	3: 103,251,892 (GRCm39)	C914R	probably damaging	Het
Trip11	G	A	12: 101,849,738 (GRCm39)	T1442I	probably damaging	Het
Ttll6	A	G	11: 96,026,415 (GRCm39)	M107V	possibly damaging	Het
Uap1l1	A	G	2: 25,253,445 (GRCm39)		probably benign	Het
Ube3b	T	A	5: 114,553,370 (GRCm39)	I914N	possibly damaging	Het
Usp24	A	G	4: 106,237,665 (GRCm39)	T1107A	probably damaging	Het
Usp40	A	T	1: 87,896,122 (GRCm39)	C811*	probably null	Het
Vps11	T	C	9: 44,270,432 (GRCm39)		probably null	Het
Wdr91	A	T	6: 34,868,422 (GRCm39)	I433N	possibly damaging	Het
Zfp770	G	C	2: 114,026,713 (GRCm39)	S452*	probably null	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
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
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'- GAGTCTGAGCTTGAGTCACC -3'
(R):5'- TGTTTCAGAAGCTACTGAGAGGC -3'

Sequencing Primer
(F):5'- CTGAGCTTGAGTCACCTAGTGAG -3'
(R):5'- TGAGCCAAGGAAGTACCCCATTG -3'

Posted On

2017-02-28