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

2410142K10Rik, PF1

MMRRC Submission

068848-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.753) question?

Stock #

R9018 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77982754-78030539 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 78023684 bp (GRCm38)

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: 120,319,309 (GRCm38)	E1552G	probably damaging	Het
Abca14	A	T	7: 120,289,540 (GRCm38)	K1236N	probably benign	Het
Adam3	A	T	8: 24,694,276 (GRCm38)	Y569*	probably null	Het
Adgrb2	A	G	4: 130,013,866 (GRCm38)	T998A	probably benign	Het
Adgre4	T	A	17: 55,791,993 (GRCm38)	H166Q	probably benign	Het
Ank1	G	A	8: 23,116,248 (GRCm38)	G1219S	probably null	Het
Ankrd11	A	G	8: 122,895,512 (GRCm38)	S534P	probably damaging	Het
Atn1	C	T	6: 124,745,698 (GRCm38)	E805K	unknown	Het
Bsn	T	C	9: 108,117,289 (GRCm38)	T596A	probably benign	Het
Cacnb4	C	T	2: 52,434,694 (GRCm38)	R452Q	probably benign	Het
Cdc123	C	A	2: 5,844,872 (GRCm38)	A13S	probably benign	Het
Chd7	G	A	4: 8,847,083 (GRCm38)	G1609S	possibly damaging	Het
Cp	T	A	3: 19,989,152 (GRCm38)	C1035S	probably damaging	Het
Dcaf1	T	A	9: 106,865,637 (GRCm38)	C1383S	probably damaging	Het
Derl3	G	A	10: 75,893,770 (GRCm38)	V54I	probably benign	Het
Dgcr6	T	C	16: 18,066,743 (GRCm38)	L25P	probably damaging	Het
Dmrt2	A	G	19: 25,673,621 (GRCm38)	E57G	probably benign	Het
Dst	A	G	1: 34,196,059 (GRCm38)	K3562E	probably damaging	Het
Dyrk2	T	C	10: 118,860,109 (GRCm38)	T415A	probably damaging	Het
Fam186b	G	A	15: 99,279,735 (GRCm38)	A570V	probably damaging	Het
Fbln1	T	C	15: 85,242,014 (GRCm38)	I484T	probably damaging	Het
Greb1l	T	A	18: 10,542,004 (GRCm38)	D1250E	possibly damaging	Het
Ift88	A	C	14: 57,438,245 (GRCm38)	K72Q	probably benign	Het
Impg1	T	A	9: 80,394,192 (GRCm38)	I228F	probably benign	Het
Itsn2	A	G	12: 4,658,091 (GRCm38)	N799S	possibly damaging	Het
Jade1	T	A	3: 41,609,857 (GRCm38)	C521S	probably benign	Het
Katna1	T	G	10: 7,761,276 (GRCm38)	L397R	probably damaging	Het
Kcnj15	A	C	16: 95,296,270 (GRCm38)	K250N	probably damaging	Het
Lrrc6	A	T	15: 66,449,630 (GRCm38)	S221T	probably benign	Het
Macc1	A	G	12: 119,446,206 (GRCm38)	I236M	possibly damaging	Het
Mapk13	C	T	17: 28,777,786 (GRCm38)	R276C	probably benign	Het
Mier2	G	A	10: 79,548,440 (GRCm38)	R166W	probably damaging	Het
Mindy4	C	T	6: 55,301,087 (GRCm38)	H639Y	possibly damaging	Het
Mphosph9	A	G	5: 124,298,650 (GRCm38)	S544P	probably benign	Het
Muc4	T	C	16: 32,762,536 (GRCm38)	Y492H		Het
Mybbp1a	C	T	11: 72,443,594 (GRCm38)	T225I	probably benign	Het
Myo6	A	T	9: 80,251,804 (GRCm38)	K285I	unknown	Het
Nmd3	G	A	3: 69,739,995 (GRCm38)	V277I	probably benign	Het
Nol9	G	C	4: 152,039,461 (GRCm38)	R36P	probably damaging	Het
Nom1	A	G	5: 29,434,714 (GRCm38)	R13G	possibly damaging	Het
Nudt14	G	A	12: 112,939,286 (GRCm38)	H40Y	probably damaging	Het
Nxt2	C	T	X: 142,237,751 (GRCm38)	A118V	possibly damaging	Het
Olfr1375	G	A	11: 51,048,111 (GRCm38)	M1I	probably null	Het
Olfr1474	A	T	19: 13,471,357 (GRCm38)	H87L	possibly damaging	Het
Olfr933	T	A	9: 38,976,391 (GRCm38)	F238L	probably benign	Het
Pcnx4	T	A	12: 72,556,663 (GRCm38)	F492I	probably damaging	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 172,128,583 (GRCm38)		probably null	Het
Pgghg	A	G	7: 140,944,666 (GRCm38)	I309V	probably benign	Het
Pltp	A	G	2: 164,852,490 (GRCm38)	L199P	probably damaging	Het
Pole	T	A	5: 110,289,809 (GRCm38)	L78I	probably benign	Het
Ppm1d	C	A	11: 85,337,135 (GRCm38)	H292Q	probably damaging	Het
Ppp2cb	A	C	8: 33,615,759 (GRCm38)	I224L	probably benign	Het
Rabggta	A	T	14: 55,720,423 (GRCm38)	I171N	probably damaging	Het
Rapgef5	A	G	12: 117,748,397 (GRCm38)	I740V	probably damaging	Het
Rb1cc1	G	A	1: 6,249,266 (GRCm38)	E970K	probably benign	Het
Rnh1	A	T	7: 141,168,631 (GRCm38)	V11D	probably benign	Het
Robo4	C	T	9: 37,404,224 (GRCm38)	T288I	probably benign	Het
Scmh1	A	G	4: 120,505,317 (GRCm38)	D250G	probably benign	Het
Sele	T	A	1: 164,053,679 (GRCm38)	C483S	probably damaging	Het
Slc12a6	A	G	2: 112,344,240 (GRCm38)		probably benign	Het
Slc5a4a	A	G	10: 76,166,712 (GRCm38)	E234G	possibly damaging	Het
Smarca5	A	G	8: 80,704,726 (GRCm38)	L954P	probably damaging	Het
St7	T	A	6: 17,906,495 (GRCm38)	N413K	probably damaging	Het
Stam2	C	T	2: 52,716,451 (GRCm38)	V141I	probably benign	Het
Stim1	C	T	7: 102,411,275 (GRCm38)	T175I	probably benign	Het
Strap	A	G	6: 137,739,813 (GRCm38)	N130S	probably benign	Het
Stxbp2	A	G	8: 3,642,627 (GRCm38)		probably benign	Het
Sult3a2	T	A	10: 33,779,693 (GRCm38)	I97F	probably benign	Het
Tbc1d32	A	T	10: 56,072,597 (GRCm38)	N965K	probably benign	Het
Tle3	T	A	9: 61,412,468 (GRCm38)	I506N	probably damaging	Het
Tmco1	C	T	1: 167,308,563 (GRCm38)		probably benign	Het
Tvp23a	A	G	16: 10,446,982 (GRCm38)	S22P	probably damaging	Het
Vmn2r82	A	G	10: 79,396,705 (GRCm38)	N846S	probably damaging	Het
Vmn2r83	A	G	10: 79,480,186 (GRCm38)	N472S	probably damaging	Het
Xpo7	G	A	14: 70,707,424 (GRCm38)	Q10*	probably null	Het
Zfp423	G	C	8: 87,781,753 (GRCm38)	S654R	probably benign	Het
Zfp646	A	T	7: 127,879,071 (GRCm38)	H140L	probably benign	Het
Zfp719	C	A	7: 43,584,065 (GRCm38)		probably benign	Het

Other mutations in Phf12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00826:Phf12	APN	11	78,015,506 (GRCm38)	missense	probably damaging	0.98
IGL00919:Phf12	APN	11	77,983,340 (GRCm38)	missense	probably damaging	1.00
IGL01434:Phf12	APN	11	78,023,559 (GRCm38)	missense	probably damaging	1.00
IGL02219:Phf12	APN	11	77,984,196 (GRCm38)	missense	probably damaging	0.97
IGL02727:Phf12	APN	11	78,023,667 (GRCm38)	missense	possibly damaging	0.83
IGL03064:Phf12	APN	11	77,983,360 (GRCm38)	missense	probably damaging	1.00
IGL03117:Phf12	APN	11	78,023,020 (GRCm38)	unclassified	probably benign
Fossa	UTSW	11	78,006,782 (GRCm38)	missense	probably damaging	0.99
lemur	UTSW	11	78,024,954 (GRCm38)	splice site	probably benign
R0457:Phf12	UTSW	11	78,018,168 (GRCm38)	missense	possibly damaging	0.94
R0477:Phf12	UTSW	11	78,023,070 (GRCm38)	missense	possibly damaging	0.94
R0656:Phf12	UTSW	11	78,029,332 (GRCm38)	missense	probably benign	0.44
R0905:Phf12	UTSW	11	78,009,404 (GRCm38)	nonsense	probably null
R1719:Phf12	UTSW	11	78,023,601 (GRCm38)	missense	probably damaging	1.00
R1742:Phf12	UTSW	11	78,009,486 (GRCm38)	missense	probably benign	0.04
R1826:Phf12	UTSW	11	78,024,954 (GRCm38)	splice site	probably benign
R2270:Phf12	UTSW	11	77,984,175 (GRCm38)	missense	possibly damaging	0.82
R2875:Phf12	UTSW	11	78,009,747 (GRCm38)	missense	probably damaging	1.00
R2885:Phf12	UTSW	11	78,023,769 (GRCm38)	missense	possibly damaging	0.75
R5020:Phf12	UTSW	11	78,023,796 (GRCm38)	missense	probably damaging	1.00
R5570:Phf12	UTSW	11	78,018,111 (GRCm38)	missense	possibly damaging	0.89
R5573:Phf12	UTSW	11	78,025,045 (GRCm38)	missense	probably damaging	1.00
R5689:Phf12	UTSW	11	78,023,725 (GRCm38)	missense	probably damaging	1.00
R5727:Phf12	UTSW	11	78,023,544 (GRCm38)	missense	probably damaging	1.00
R5807:Phf12	UTSW	11	78,022,426 (GRCm38)	missense	probably benign	0.16
R5910:Phf12	UTSW	11	78,027,398 (GRCm38)	missense	probably damaging	1.00
R6034:Phf12	UTSW	11	78,018,069 (GRCm38)	missense	probably benign	0.08
R6034:Phf12	UTSW	11	78,018,069 (GRCm38)	missense	probably benign	0.08
R6049:Phf12	UTSW	11	78,028,170 (GRCm38)	splice site	probably null
R6052:Phf12	UTSW	11	78,018,218 (GRCm38)	missense	probably benign	0.31
R6056:Phf12	UTSW	11	78,009,515 (GRCm38)	missense	probably benign	0.09
R6208:Phf12	UTSW	11	78,023,591 (GRCm38)	missense	probably damaging	0.97
R6644:Phf12	UTSW	11	78,026,092 (GRCm38)	makesense	probably null
R6805:Phf12	UTSW	11	78,027,373 (GRCm38)	missense	probably damaging	1.00
R6823:Phf12	UTSW	11	78,022,511 (GRCm38)	nonsense	probably null
R7047:Phf12	UTSW	11	78,013,273 (GRCm38)	missense	probably damaging	0.99
R7159:Phf12	UTSW	11	78,023,540 (GRCm38)	missense	possibly damaging	0.76
R7602:Phf12	UTSW	11	78,023,283 (GRCm38)	missense	probably benign
R7618:Phf12	UTSW	11	78,026,134 (GRCm38)	missense	unknown
R8162:Phf12	UTSW	11	78,024,825 (GRCm38)	missense	probably damaging	0.99
R8290:Phf12	UTSW	11	78,029,639 (GRCm38)	missense	probably benign	0.02
R8544:Phf12	UTSW	11	78,027,409 (GRCm38)	missense	probably damaging	0.99
R8834:Phf12	UTSW	11	78,006,782 (GRCm38)	missense	probably damaging	0.99
X0013:Phf12	UTSW	11	78,009,791 (GRCm38)	missense	probably damaging	1.00
X0027:Phf12	UTSW	11	78,028,895 (GRCm38)	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