Mutagenetix > Incidental Mutation

Incidental Mutation 'R6805:Phf12'

533545

Institutional Source

Beutler Lab

Gene Symbol

Phf12

Ensembl Gene

ENSMUSG00000037791

Gene Name

PHD finger protein 12

Synonyms

2410142K10Rik, PF1

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.671) question?

Stock #

R6805 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77982754-78030539 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78027373 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 804 (G804R)

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: G804R

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

SMART Domains

Protein: ENSMUSP00000044990
Gene: ENSMUSG00000037791
AA Change: G804R

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

probably benign
Transcript: ENSMUST00000131680

Predicted Effect

probably benign
Transcript: ENSMUST00000144028

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153747

Meta Mutation Damage Score

0.2212

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 97.1%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,244,306	V2591A	probably benign	Het
4930407I10Rik	A	G	15: 82,062,543	T214A	possibly damaging	Het
A930009A15Rik	G	T	10: 115,579,905		probably benign	Het
Aadac	A	C	3: 60,037,336	D143A	probably benign	Het
Acot10	T	G	15: 20,665,366	T430P	probably benign	Het
Adgrb3	T	C	1: 25,826,172	T197A	possibly damaging	Het
B230118H07Rik	T	C	2: 101,566,459	K192E	probably benign	Het
Bbs1	A	G	19: 4,900,615	I200T	probably damaging	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Cadps	G	A	14: 12,467,103	A943V	probably damaging	Het
Cc2d2a	A	G	5: 43,681,331	E48G	probably damaging	Het
Clca1	A	T	3: 145,018,667	C211S	probably damaging	Het
Col18a1	A	G	10: 77,054,239	L1429P	probably damaging	Het
Cul2	T	G	18: 3,421,263	Y196D	probably damaging	Het
D630023F18Rik	T	C	1: 65,117,206	S43G	probably benign	Het
Ddx39	G	A	8: 83,723,137	R427Q	probably damaging	Het
Def6	A	G	17: 28,223,717	T285A	probably damaging	Het
Defb21	T	A	2: 152,574,869	D88E	probably benign	Het
Defb6	A	G	8: 19,228,101	K63R	probably benign	Het
Dnph1	T	C	17: 46,498,744	S112P	probably damaging	Het
Dock10	T	A	1: 80,586,690	I467L	probably benign	Het
Dspp	C	A	5: 104,175,850	H286Q	probably benign	Het
Eya1	T	A	1: 14,183,277	T459S	probably benign	Het
Faf1	T	C	4: 109,861,852	L385P	probably damaging	Het
Fbxw21	C	A	9: 109,157,565	R82L	probably damaging	Het
Fryl	A	G	5: 73,065,094	V2048A	probably benign	Het
Galnt5	A	T	2: 58,035,299	D864V	possibly damaging	Het
Gata6	T	G	18: 11,054,460	S130A	possibly damaging	Het
Gbf1	G	T	19: 46,262,507	R434L	probably damaging	Het
Gga3	A	G	11: 115,585,762	F709L	probably damaging	Het
Hcar1	A	G	5: 123,879,130	V166A	probably benign	Het
Hexa	T	A	9: 59,563,937	N491K	possibly damaging	Het
Hpse2	A	T	19: 43,294,321	C164*	probably null	Het
Ifi202b	T	C	1: 173,974,989	Y93C	probably damaging	Het
Iscu	T	A	5: 113,775,243	I79N	probably damaging	Het
Jmjd7	T	A	2: 120,031,323	Y182*	probably null	Het
Jup	A	T	11: 100,383,458	D135E	probably benign	Het
Kit	T	A	5: 75,652,808	I881N	probably damaging	Het
Llgl1	T	A	11: 60,702,865	S55T	probably benign	Het
Lonp2	G	A	8: 86,709,096	M653I	probably benign	Het
Lrp8	T	C	4: 107,854,320	Y307H	probably damaging	Het
Med13	A	T	11: 86,278,796	M1914K	possibly damaging	Het
Ms4a1	A	G	19: 11,253,173		probably null	Het
Naip1	A	G	13: 100,427,341	S439P	probably benign	Het
Nrg1	T	C	8: 31,821,264	R476G	probably damaging	Het
Olfr1129	T	A	2: 87,574,918		probably null	Het
Olfr835	G	T	9: 19,035,301	M59I	probably damaging	Het
Pds5b	T	A	5: 150,805,561		probably null	Het
Pou6f2	T	C	13: 18,239,489	T234A		Het
Prune2	A	T	19: 17,120,590	I1153L	probably benign	Het
Ptprc	C	T	1: 138,067,885		probably null	Het
Qpctl	T	C	7: 19,149,154	Q11R	probably benign	Het
Rfx4	A	G	10: 84,840,228	K103E	possibly damaging	Het
Srcin1	T	A	11: 97,551,980		probably null	Het
St6galnac1	G	T	11: 116,768,944	A181D	probably damaging	Het
Stk36	T	C	1: 74,622,239	V475A	probably benign	Het
Tbc1d21	T	C	9: 58,361,288	T263A	possibly damaging	Het
Tex24	A	T	8: 27,345,000	K185N	probably damaging	Het
Tnxb	T	A	17: 34,698,153	V2174E	possibly damaging	Het
Tollip	A	G	7: 141,890,845	S57P	probably benign	Het
Zbtb49	A	G	5: 38,213,241		probably benign	Het
Zfp758	A	G	17: 22,361,669	T30A	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
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'- TTCCTAACCTGTCGTGGAAGTG -3'
(R):5'- AGTCTCTCTTGCCTGGACAC -3'

Sequencing Primer
(F):5'- AGTCTGAGCTTGAGTCACCTAG -3'
(R):5'- CTTTAGGCTGAAGGTCCA -3'

Posted On

2018-09-12