Mutagenetix > Incidental Mutation

Incidental Mutation 'R9018:Phf12'

686157

Institutional Source

Beutler Lab

Gene Symbol

Phf12

Ensembl Gene

ENSMUSG00000037791

Gene Name

PHD finger protein 12

Synonyms

PF1, 2410142K10Rik

MMRRC Submission

068848-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.704) question?

Stock #

R9018 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77873580-77921365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 77914510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 651 (P651S)

Ref Sequence

ENSEMBL: ENSMUSP00000044990 (fasta)

Gene Model

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

AlphaFold

Q5SPL2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049167
AA Change: P651S

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000044990
Gene: ENSMUSG00000037791
AA Change: P651S

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: P651S

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103997
Gene: ENSMUSG00000037791
AA Change: P651S

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

probably damaging
Transcript: ENSMUST00000153428
AA Change: P102S

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

SMART Domains

Protein: ENSMUSP00000119390
Gene: ENSMUSG00000037791
AA Change: P102S

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

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (77/77)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,918,532 (GRCm39)	E1552G	probably damaging	Het
Abca14	A	T	7: 119,888,763 (GRCm39)	K1236N	probably benign	Het
Adam3	A	T	8: 25,184,292 (GRCm39)	Y569*	probably null	Het
Adgrb2	A	G	4: 129,907,659 (GRCm39)	T998A	probably benign	Het
Adgre4	T	A	17: 56,098,993 (GRCm39)	H166Q	probably benign	Het
Ank1	G	A	8: 23,606,264 (GRCm39)	G1219S	probably null	Het
Ankrd11	A	G	8: 123,622,251 (GRCm39)	S534P	probably damaging	Het
Atn1	C	T	6: 124,722,661 (GRCm39)	E805K	unknown	Het
Bsn	T	C	9: 107,994,488 (GRCm39)	T596A	probably benign	Het
Cacnb4	C	T	2: 52,324,706 (GRCm39)	R452Q	probably benign	Het
Cdc123	C	A	2: 5,849,683 (GRCm39)	A13S	probably benign	Het
Chd7	G	A	4: 8,847,083 (GRCm39)	G1609S	possibly damaging	Het
Cp	T	A	3: 20,043,316 (GRCm39)	C1035S	probably damaging	Het
Dcaf1	T	A	9: 106,742,836 (GRCm39)	C1383S	probably damaging	Het
Derl3	G	A	10: 75,729,604 (GRCm39)	V54I	probably benign	Het
Dgcr6	T	C	16: 17,884,607 (GRCm39)	L25P	probably damaging	Het
Dmrt2	A	G	19: 25,650,985 (GRCm39)	E57G	probably benign	Het
Dnaaf11	A	T	15: 66,321,479 (GRCm39)	S221T	probably benign	Het
Dst	A	G	1: 34,235,140 (GRCm39)	K3562E	probably damaging	Het
Dyrk2	T	C	10: 118,696,014 (GRCm39)	T415A	probably damaging	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fbln1	T	C	15: 85,126,215 (GRCm39)	I484T	probably damaging	Het
Greb1l	T	A	18: 10,542,004 (GRCm39)	D1250E	possibly damaging	Het
Ift88	A	C	14: 57,675,702 (GRCm39)	K72Q	probably benign	Het
Impg1	T	A	9: 80,301,474 (GRCm39)	I228F	probably benign	Het
Itsn2	A	G	12: 4,708,091 (GRCm39)	N799S	possibly damaging	Het
Jade1	T	A	3: 41,564,292 (GRCm39)	C521S	probably benign	Het
Katna1	T	G	10: 7,637,040 (GRCm39)	L397R	probably damaging	Het
Kcnj15	A	C	16: 95,097,129 (GRCm39)	K250N	probably damaging	Het
Macc1	A	G	12: 119,409,941 (GRCm39)	I236M	possibly damaging	Het
Mapk13	C	T	17: 28,996,760 (GRCm39)	R276C	probably benign	Het
Mier2	G	A	10: 79,384,274 (GRCm39)	R166W	probably damaging	Het
Mindy4	C	T	6: 55,278,072 (GRCm39)	H639Y	possibly damaging	Het
Mphosph9	A	G	5: 124,436,713 (GRCm39)	S544P	probably benign	Het
Muc4	T	C	16: 32,582,910 (GRCm39)	Y492H		Het
Mybbp1a	C	T	11: 72,334,420 (GRCm39)	T225I	probably benign	Het
Myo6	A	T	9: 80,159,086 (GRCm39)	K285I	unknown	Het
Nmd3	G	A	3: 69,647,328 (GRCm39)	V277I	probably benign	Het
Nol9	G	C	4: 152,123,918 (GRCm39)	R36P	probably damaging	Het
Nom1	A	G	5: 29,639,712 (GRCm39)	R13G	possibly damaging	Het
Nudt14	G	A	12: 112,902,906 (GRCm39)	H40Y	probably damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or1x6	G	A	11: 50,938,938 (GRCm39)	M1I	probably null	Het
Or5b118	A	T	19: 13,448,721 (GRCm39)	H87L	possibly damaging	Het
Or8d1b	T	A	9: 38,887,687 (GRCm39)	F238L	probably benign	Het
Pcnx4	T	A	12: 72,603,437 (GRCm39)	F492I	probably damaging	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 171,956,150 (GRCm39)		probably null	Het
Pgghg	A	G	7: 140,524,579 (GRCm39)	I309V	probably benign	Het
Pltp	A	G	2: 164,694,410 (GRCm39)	L199P	probably damaging	Het
Pole	T	A	5: 110,437,675 (GRCm39)	L78I	probably benign	Het
Ppm1d	C	A	11: 85,227,961 (GRCm39)	H292Q	probably damaging	Het
Ppp2cb	A	C	8: 34,105,787 (GRCm39)	I224L	probably benign	Het
Rabggta	A	T	14: 55,957,880 (GRCm39)	I171N	probably damaging	Het
Rapgef5	A	G	12: 117,712,132 (GRCm39)	I740V	probably damaging	Het
Rb1cc1	G	A	1: 6,319,490 (GRCm39)	E970K	probably benign	Het
Rnh1	A	T	7: 140,748,544 (GRCm39)	V11D	probably benign	Het
Robo4	C	T	9: 37,315,520 (GRCm39)	T288I	probably benign	Het
Scmh1	A	G	4: 120,362,514 (GRCm39)	D250G	probably benign	Het
Sele	T	A	1: 163,881,248 (GRCm39)	C483S	probably damaging	Het
Slc12a6	A	G	2: 112,174,585 (GRCm39)		probably benign	Het
Slc5a4a	A	G	10: 76,002,546 (GRCm39)	E234G	possibly damaging	Het
Smarca5	A	G	8: 81,431,355 (GRCm39)	L954P	probably damaging	Het
St7	T	A	6: 17,906,494 (GRCm39)	N413K	probably damaging	Het
Stam2	C	T	2: 52,606,463 (GRCm39)	V141I	probably benign	Het
Stim1	C	T	7: 102,060,482 (GRCm39)	T175I	probably benign	Het
Strap	A	G	6: 137,716,811 (GRCm39)	N130S	probably benign	Het
Stxbp2	A	G	8: 3,692,627 (GRCm39)		probably benign	Het
Sult3a2	T	A	10: 33,655,689 (GRCm39)	I97F	probably benign	Het
Tbc1d32	A	T	10: 55,948,693 (GRCm39)	N965K	probably benign	Het
Tle3	T	A	9: 61,319,750 (GRCm39)	I506N	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tvp23a	A	G	16: 10,264,846 (GRCm39)	S22P	probably damaging	Het
Vmn2r82	A	G	10: 79,232,539 (GRCm39)	N846S	probably damaging	Het
Vmn2r83	A	G	10: 79,316,020 (GRCm39)	N472S	probably damaging	Het
Xpo7	G	A	14: 70,944,864 (GRCm39)	Q10*	probably null	Het
Zfp423	G	C	8: 88,508,381 (GRCm39)	S654R	probably benign	Het
Zfp646	A	T	7: 127,478,243 (GRCm39)	H140L	probably benign	Het
Zfp719	C	A	7: 43,233,489 (GRCm39)		probably benign	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
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
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'- AGAACCACGTCGGCATCATTG -3'
(R):5'- CTCAAGTATTCCCAGGGATAAACTG -3'

Sequencing Primer
(F):5'- CACGTCGGCATCATTGTGAAGAC -3'
(R):5'- CCAGGGATAAACTGTTTCGGACTC -3'

Posted On

2021-10-11