Mutagenetix > Incidental Mutation

Incidental Mutation 'R7618:Phf12'

589009

Institutional Source

Beutler Lab

Gene Symbol

Phf12

Ensembl Gene

ENSMUSG00000037791

Gene Name

PHD finger protein 12

Synonyms

2410142K10Rik, PF1

MMRRC Submission

045685-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.801) question?

Stock #

R7618 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77982754-78030539 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78026134 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 272 (N272S)

Ref Sequence

ENSEMBL: ENSMUSP00000119390 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049167] [ENSMUST00000108360] [ENSMUST00000131680] [ENSMUST00000153428]

AlphaFold

Q5SPL2

Predicted Effect

probably benign
Transcript: ENSMUST00000049167

SMART Domains

Protein: ENSMUSP00000044990
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
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: 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: ENSMUST00000123662

Predicted Effect

probably benign
Transcript: ENSMUST00000131680

Predicted Effect

unknown
Transcript: ENSMUST00000153428
AA Change: N272S

SMART Domains

Protein: ENSMUSP00000119390
Gene: ENSMUSG00000037791
AA Change: N272S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153747

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,584,550	C602W	possibly damaging	Het
4930432K21Rik	A	G	8: 84,166,870	Q222R	possibly damaging	Het
Akap11	T	C	14: 78,498,860	D1830G		Het
Alms1	A	G	6: 85,678,417	N2846S	probably benign	Het
Amt	A	C	9: 108,299,878	E228D	probably damaging	Het
Ankar	T	C	1: 72,675,766	M618V	probably benign	Het
Ankrd60	T	C	2: 173,571,041		probably null	Het
Aoc1	A	G	6: 48,906,386	T399A	possibly damaging	Het
Aqp11	T	A	7: 97,737,666	I108F	probably benign	Het
Arfgef3	G	T	10: 18,646,281	Q666K	probably damaging	Het
Bin2	T	A	15: 100,645,013	R430W	probably damaging	Het
Cdh18	T	A	15: 23,366,970	V254D	probably damaging	Het
Cfap46	A	T	7: 139,603,239	S159R		Het
Clnk	A	T	5: 38,736,355	S220T	probably benign	Het
Col19a1	G	T	1: 24,322,084	H608Q	probably benign	Het
Cplx1	C	T	5: 108,525,529	E24K	possibly damaging	Het
Dnah3	A	T	7: 119,978,378	L2031Q	probably damaging	Het
Dok1	T	C	6: 83,032,891	E79G	probably benign	Het
Eif4g3	T	C	4: 138,171,118	S902P	probably damaging	Het
Emilin3	T	A	2: 160,909,279	E183D	probably benign	Het
Fam124b	G	A	1: 80,213,837		probably benign	Het
Gm9195	T	C	14: 72,452,835	Y1816C	probably damaging	Het
Ighv5-9-1	T	A	12: 113,736,199	I98F	probably damaging	Het
Il31ra	G	A	13: 112,551,980	P21L	possibly damaging	Het
Kat6a	A	G	8: 22,862,562	I121V	possibly damaging	Het
Kif11	T	C	19: 37,411,560	W832R	probably benign	Het
Klhl9	T	C	4: 88,720,535	T490A	possibly damaging	Het
Lars	G	T	18: 42,244,891	A153E	probably benign	Het
Muc5b	A	T	7: 141,867,597	I4275L	probably benign	Het
Myo10	T	A	15: 25,726,475	C294*	probably null	Het
Nceh1	T	A	3: 27,183,217		probably null	Het
Ncf1	T	A	5: 134,227,267	T93S	probably benign	Het
Nfatc2	G	A	2: 168,534,999	R545C	probably damaging	Het
Nos1	C	T	5: 117,903,944	P545S	probably benign	Het
Ogfod3	C	A	11: 121,202,978	V69F	probably damaging	Het
Olfr1197	A	T	2: 88,728,836	Y254*	probably null	Het
Prkcz	T	A	4: 155,262,482	I581F	probably damaging	Het
Rasgrf2	T	C	13: 91,987,966	H8R		Het
Rb1cc1	T	A	1: 6,265,558		probably null	Het
Rcor2	T	A	19: 7,271,046	M186K	possibly damaging	Het
Rnf111	C	A	9: 70,503,332		probably benign	Het
Serinc3	A	T	2: 163,630,969	F247Y	possibly damaging	Het
Serpina1c	T	A	12: 103,898,770	I206F	probably damaging	Het
Slc25a10	G	A	11: 120,496,971		probably null	Het
Syne2	T	G	12: 75,945,334	H1993Q	probably benign	Het
Tap1	A	G	17: 34,188,238	Y120C	possibly damaging	Het
Tex30	A	T	1: 44,088,250		probably null	Het
Ube2ql1	G	T	13: 69,738,947	Q132K	probably benign	Het
Unc13d	T	C	11: 116,066,721	N803D	probably damaging	Het
Vcan	G	A	13: 89,692,223	S1734F	probably damaging	Het
Wdfy4	T	C	14: 32,985,739	Y2630C		Het
Wdr93	A	G	7: 79,785,726	T668A	probably benign	Het

Other mutations in Phf12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00826:Phf12	APN	11	78015506	missense	probably damaging	0.98
IGL00919:Phf12	APN	11	77983340	missense	probably damaging	1.00
IGL01434:Phf12	APN	11	78023559	missense	probably damaging	1.00
IGL02219:Phf12	APN	11	77984196	missense	probably damaging	0.97
IGL02727:Phf12	APN	11	78023667	missense	possibly damaging	0.83
IGL03064:Phf12	APN	11	77983360	missense	probably damaging	1.00
IGL03117:Phf12	APN	11	78023020	unclassified	probably benign
Fossa	UTSW	11	78006782	missense	probably damaging	0.99
lemur	UTSW	11	78024954	splice site	probably benign
R0457:Phf12	UTSW	11	78018168	missense	possibly damaging	0.94
R0477:Phf12	UTSW	11	78023070	missense	possibly damaging	0.94
R0656:Phf12	UTSW	11	78029332	missense	probably benign	0.44
R0905:Phf12	UTSW	11	78009404	nonsense	probably null
R1719:Phf12	UTSW	11	78023601	missense	probably damaging	1.00
R1742:Phf12	UTSW	11	78009486	missense	probably benign	0.04
R1826:Phf12	UTSW	11	78024954	splice site	probably benign
R2270:Phf12	UTSW	11	77984175	missense	possibly damaging	0.82
R2875:Phf12	UTSW	11	78009747	missense	probably damaging	1.00
R2885:Phf12	UTSW	11	78023769	missense	possibly damaging	0.75
R5020:Phf12	UTSW	11	78023796	missense	probably damaging	1.00
R5570:Phf12	UTSW	11	78018111	missense	possibly damaging	0.89
R5573:Phf12	UTSW	11	78025045	missense	probably damaging	1.00
R5689:Phf12	UTSW	11	78023725	missense	probably damaging	1.00
R5727:Phf12	UTSW	11	78023544	missense	probably damaging	1.00
R5807:Phf12	UTSW	11	78022426	missense	probably benign	0.16
R5910:Phf12	UTSW	11	78027398	missense	probably damaging	1.00
R6034:Phf12	UTSW	11	78018069	missense	probably benign	0.08
R6034:Phf12	UTSW	11	78018069	missense	probably benign	0.08
R6049:Phf12	UTSW	11	78028170	splice site	probably null
R6052:Phf12	UTSW	11	78018218	missense	probably benign	0.31
R6056:Phf12	UTSW	11	78009515	missense	probably benign	0.09
R6208:Phf12	UTSW	11	78023591	missense	probably damaging	0.97
R6644:Phf12	UTSW	11	78026092	makesense	probably null
R6805:Phf12	UTSW	11	78027373	missense	probably damaging	1.00
R6823:Phf12	UTSW	11	78022511	nonsense	probably null
R7047:Phf12	UTSW	11	78013273	missense	probably damaging	0.99
R7159:Phf12	UTSW	11	78023540	missense	possibly damaging	0.76
R7602:Phf12	UTSW	11	78023283	missense	probably benign
R8162:Phf12	UTSW	11	78024825	missense	probably damaging	0.99
R8290:Phf12	UTSW	11	78029639	missense	probably benign	0.02
R8544:Phf12	UTSW	11	78027409	missense	probably damaging	0.99
R8834:Phf12	UTSW	11	78006782	missense	probably damaging	0.99
R9018:Phf12	UTSW	11	78023684	missense	possibly damaging	0.51
X0013:Phf12	UTSW	11	78009791	missense	probably damaging	1.00
X0027:Phf12	UTSW	11	78028895	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GTTTCTGGCCTTGCAGAGAG -3'
(R):5'- TCTCACCTTGAACCTTAGGAAAAC -3'

Sequencing Primer
(F):5'- GCAGAGAGTACATCAGCTTTTCC -3'
(R):5'- AGTTATGGCAAACTCCCC -3'

Posted On

2019-10-24