Mutagenetix > Incidental Mutations

Incidental Mutation 'R2875:Phf12'

260518

Institutional Source

Beutler Lab

Gene Symbol

Phf12

Ensembl Gene

ENSMUSG00000037791

Gene Name

PHD finger protein 12

Synonyms

2410142K10Rik, PF1

MMRRC Submission

040463-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.665) question?

Stock #

R2875 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77982754-78030539 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 78009747 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 223 (T223N)

Ref Sequence

ENSEMBL: ENSMUSP00000103997 (fasta)

Gene Model

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

AlphaFold

Q5SPL2

Predicted Effect

probably damaging
Transcript: ENSMUST00000049167
AA Change: T223N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044990
Gene: ENSMUSG00000037791
AA Change: T223N

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 damaging
Transcript: ENSMUST00000108360
AA Change: T223N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103997
Gene: ENSMUSG00000037791
AA Change: T223N

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (1/1)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	G	10: 10,422,719	T422P	probably damaging	Het
Adrm1	A	G	2: 180,175,618	T293A	probably damaging	Het
Baz1a	A	T	12: 54,923,119	D585E	probably damaging	Het
Ccdc152	T	C	15: 3,298,181	N38S	probably damaging	Het
Cenpf	A	G	1: 189,658,644	M997T	probably benign	Het
Dnah12	A	G	14: 26,693,470	I9V	probably benign	Het
Dnah12	A	G	14: 26,876,950	N995S	probably benign	Het
Dnah9	C	A	11: 66,168,461	G3C	possibly damaging	Het
Dock2	A	G	11: 34,718,885	S243P	probably damaging	Het
Eif2ak3	T	C	6: 70,883,639	S400P	probably damaging	Het
Eno1b	A	G	18: 48,047,784	K343R	possibly damaging	Het
Gm38394	C	T	1: 133,656,860	C913Y	probably damaging	Het
Gm5346	T	A	8: 43,627,140	K16*	probably null	Het
Grk6	A	G	13: 55,452,304	H271R	probably damaging	Het
H2-Ab1	A	C	17: 34,263,312	M1L	probably benign	Het
Irf8	C	A	8: 120,754,463	P262Q	probably damaging	Het
Kcnc3	G	T	7: 44,591,537	G218*	probably null	Het
Krt9	C	A	11: 100,189,205	G454*	probably null	Het
Mgrn1	C	T	16: 4,907,416	T47I	possibly damaging	Het
Ndst1	A	T	18: 60,690,047	F816I	probably damaging	Het
Olfr193	A	T	16: 59,109,802	D269E	probably benign	Het
Olfr742	T	A	14: 50,515,812	W203R	probably benign	Het
Rad1	T	C	15: 10,490,331	V128A	probably benign	Het
Rad54l	C	T	4: 116,101,853	R382Q	probably benign	Het
Rhbdd1	A	G	1: 82,368,369	D215G	probably benign	Het
Sdc4	T	C	2: 164,431,291	D33G	possibly damaging	Het
Smarca4	A	T	9: 21,642,580	K387N	possibly damaging	Het
St3gal5	A	G	6: 72,147,130	M214V	possibly damaging	Het
Stk25	T	C	1: 93,629,251	D15G	possibly damaging	Het
Timm21	T	C	18: 84,951,092	D69G	probably benign	Het
Ttll4	A	G	1: 74,686,438		probably null	Het
Ttn	T	A	2: 76,759,094	N21272I	probably damaging	Het
Uchl3	A	G	14: 101,668,560	H153R	probably benign	Het
Zcwpw1	T	C	5: 137,810,042	S251P	probably damaging	Het
Zeb1	GGA	GGAAGA	18: 5,772,859		probably benign	Het
Zscan29	T	C	2: 121,164,100	Y468C	probably damaging	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
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
R7618:Phf12	UTSW	11	78026134	missense	unknown
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'- ACTGAACTCAAGGCCATTGC -3'
(R):5'- AATTACAACCTTTGATGCGCTTCTC -3'

Sequencing Primer
(F):5'- ATGCCCGGATCCTGGAAAG -3'
(R):5'- GATGCGCTTCTCCAGGCAAAATC -3'

Posted On

2015-01-23