Mutagenetix > Incidental Mutation

Incidental Mutation 'R1719:Phf12'

191312

Institutional Source

Beutler Lab

Gene Symbol

Phf12

Ensembl Gene

ENSMUSG00000037791

Gene Name

PHD finger protein 12

Synonyms

PF1, 2410142K10Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.704) question?

Stock #

R1719 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77873580-77921365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77914427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 74 (L74Q)

Ref Sequence

ENSEMBL: ENSMUSP00000119390 (fasta)

Gene Model

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

AlphaFold

Q5SPL2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049167
AA Change: L623Q

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000044990
Gene: ENSMUSG00000037791
AA Change: L623Q

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: L623Q

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103997
Gene: ENSMUSG00000037791
AA Change: L623Q

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

noncoding transcript
Transcript: ENSMUST00000125079

Predicted Effect

probably benign
Transcript: ENSMUST00000131680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141620

Predicted Effect

probably damaging
Transcript: ENSMUST00000153428
AA Change: L74Q

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

SMART Domains

Protein: ENSMUSP00000119390
Gene: ENSMUSG00000037791
AA Change: L74Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153747

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	A	T	19: 31,904,526 (GRCm39)	K263M	probably damaging	Het
Adam26a	G	A	8: 44,023,073 (GRCm39)	T139M	possibly damaging	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Akap9	C	T	5: 4,007,645 (GRCm39)	Q238*	probably null	Het
Ankrd6	A	T	4: 32,828,774 (GRCm39)	V85E	probably damaging	Het
Ap2b1	C	A	11: 83,215,430 (GRCm39)	P125T	probably damaging	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Cblc	A	T	7: 19,524,399 (GRCm39)	D280E	probably benign	Het
Cdk11b	T	C	4: 155,732,854 (GRCm39)		probably benign	Het
Cela2a	G	T	4: 141,545,257 (GRCm39)	F239L	probably damaging	Het
Cfap57	A	T	4: 118,463,828 (GRCm39)	C342S	probably benign	Het
Clca4a	C	A	3: 144,669,516 (GRCm39)	W345L	probably damaging	Het
Col6a5	T	C	9: 105,808,492 (GRCm39)	D852G	unknown	Het
Cyp4a32	T	C	4: 115,468,505 (GRCm39)	V329A	possibly damaging	Het
Dcaf8	C	T	1: 172,003,062 (GRCm39)	P287S	probably damaging	Het
Dmxl1	T	A	18: 50,067,704 (GRCm39)	D2654E	probably damaging	Het
Dpep1	A	T	8: 123,927,486 (GRCm39)	I347F	possibly damaging	Het
Dtnb	T	A	12: 3,693,936 (GRCm39)	Y56*	probably null	Het
Duox1	T	C	2: 122,169,125 (GRCm39)	Y1182H	possibly damaging	Het
Dusp10	T	A	1: 183,769,422 (GRCm39)	S129R	probably benign	Het
Dync2i1	T	C	12: 116,219,532 (GRCm39)	I137V	probably benign	Het
Epcam	G	A	17: 87,949,556 (GRCm39)	R173Q	probably damaging	Het
Ephb3	A	G	16: 21,039,400 (GRCm39)	E384G	probably damaging	Het
Exosc10	A	T	4: 148,652,960 (GRCm39)	D525V	probably damaging	Het
Fam186a	T	A	15: 99,840,227 (GRCm39)	T2006S	possibly damaging	Het
Fbxw21	T	A	9: 108,977,242 (GRCm39)	T156S	possibly damaging	Het
Fcrl5	A	G	3: 87,364,704 (GRCm39)	E568G	probably damaging	Het
Fmn2	C	T	1: 174,436,024 (GRCm39)		probably benign	Het
Fut9	A	G	4: 25,619,744 (GRCm39)	F357L	possibly damaging	Het
Garre1	A	T	7: 33,947,631 (GRCm39)	M459K	probably damaging	Het
Gas2l1	G	A	11: 5,014,266 (GRCm39)	H65Y	probably damaging	Het
Gjd2	A	T	2: 113,843,614 (GRCm39)	M1K	probably null	Het
Hdgfl3	T	C	7: 81,549,432 (GRCm39)	Y149C	probably damaging	Het
Hmcn2	T	C	2: 31,244,733 (GRCm39)	V730A	probably damaging	Het
Inpp4a	A	T	1: 37,437,880 (GRCm39)	S223C	probably damaging	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Knl1	T	A	2: 118,902,219 (GRCm39)	W1307R	probably benign	Het
Kpna3	A	G	14: 61,624,926 (GRCm39)	L139P	probably damaging	Het
Lama3	T	C	18: 12,612,929 (GRCm39)		probably null	Het
Lin54	G	A	5: 100,633,108 (GRCm39)	P192L	possibly damaging	Het
Lpo	T	A	11: 87,700,018 (GRCm39)		probably null	Het
Lrrc37	T	A	11: 103,507,897 (GRCm39)		probably benign	Het
Lrrd1	T	G	5: 3,900,483 (GRCm39)		probably null	Het
Nbas	T	A	12: 13,610,978 (GRCm39)		probably null	Het
Nemp1	G	A	10: 127,532,117 (GRCm39)	G341D	probably damaging	Het
Nrp1	T	C	8: 129,152,366 (GRCm39)	F192L	probably damaging	Het
Nufip2	T	A	11: 77,583,916 (GRCm39)	V610E	probably damaging	Het
Nup160	T	G	2: 90,530,780 (GRCm39)	Y479*	probably null	Het
Oas1d	A	T	5: 121,058,025 (GRCm39)	D323V	possibly damaging	Het
Or10ak14	A	G	4: 118,610,797 (GRCm39)	W315R	possibly damaging	Het
Or14j1	A	G	17: 38,146,244 (GRCm39)	D118G	possibly damaging	Het
Or4c3d	T	C	2: 89,882,128 (GRCm39)	Y180C	probably damaging	Het
Or52e4	C	A	7: 104,706,001 (GRCm39)	H183N	probably damaging	Het
Or5ac22	T	A	16: 59,135,069 (GRCm39)	R234*	probably null	Het
Or8b3	G	A	9: 38,314,550 (GRCm39)	V127M	possibly damaging	Het
Or8c9	A	T	9: 38,241,803 (GRCm39)	T307S	probably benign	Het
Pcm1	T	A	8: 41,766,396 (GRCm39)	M1567K	possibly damaging	Het
Pdxk	A	G	10: 78,279,730 (GRCm39)	V215A	probably benign	Het
Plcg1	A	G	2: 160,595,663 (GRCm39)	E537G	probably null	Het
Plxna2	C	T	1: 194,326,678 (GRCm39)	P204L	possibly damaging	Het
Ppp3cb	T	G	14: 20,574,131 (GRCm39)	M236L	probably benign	Het
Qrsl1	A	T	10: 43,772,026 (GRCm39)	S55T	probably damaging	Het
Rbm5	T	C	9: 107,621,112 (GRCm39)		probably null	Het
Sipa1l2	A	G	8: 126,171,274 (GRCm39)	S1403P	probably damaging	Het
Sis	C	T	3: 72,872,937 (GRCm39)	C67Y	probably damaging	Het
Specc1	A	G	11: 62,019,218 (GRCm39)	I686V	possibly damaging	Het
Speg	G	A	1: 75,394,507 (GRCm39)	E1739K	probably benign	Het
Sprtn	C	A	8: 125,628,372 (GRCm39)	H154Q	probably damaging	Het
St7l	A	G	3: 104,778,303 (GRCm39)	T147A	probably benign	Het
Stab1	G	A	14: 30,867,985 (GRCm39)	Q1630*	probably null	Het
Stpg2	A	G	3: 138,937,960 (GRCm39)	D173G	probably benign	Het
Tcf20	G	A	15: 82,736,978 (GRCm39)	T1491I	probably benign	Het
Themis2	A	T	4: 132,516,960 (GRCm39)	I180N	possibly damaging	Het
Timd5	T	C	11: 46,417,121 (GRCm39)	L13P	probably damaging	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Ttn	C	T	2: 76,575,978 (GRCm39)	V24972M	probably damaging	Het
Ttn	A	G	2: 76,638,340 (GRCm39)	V13980A	probably damaging	Het
Usp5	A	T	6: 124,800,423 (GRCm39)	M286K	possibly damaging	Het
Vmn2r22	G	A	6: 123,614,802 (GRCm39)	R263C	possibly damaging	Het
Vmn2r71	T	G	7: 85,270,435 (GRCm39)	C534G	probably damaging	Het
Wnk2	C	T	13: 49,214,202 (GRCm39)	S1460N	possibly damaging	Het
Zfp445	G	A	9: 122,681,707 (GRCm39)	P745S	probably damaging	Het
Zfp957	C	T	14: 79,451,436 (GRCm39)	G121D	probably damaging	Het
Zscan4f	A	G	7: 11,135,254 (GRCm39)	E220G	possibly damaging	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
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
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'- TGTGTGGAAAAGTCCAAGAAAGCCC -3'
(R):5'- ACTGAAACTCACCTGATGATGGCG -3'

Sequencing Primer
(F):5'- GTCCAAGAAAGCCCCTTGTG -3'
(R):5'- CAGAATCGTTGGTTGGCACC -3'

Posted On

2014-05-14