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

2410142K10Rik, PF1

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.671) question?

Stock #

R1719 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77982754-78030539 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78023601 bp (GRCm38)

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
4931406P16Rik	A	T	7: 34,248,206	M459K	probably damaging	Het
A1cf	A	T	19: 31,927,126	K263M	probably damaging	Het
Adam26a	G	A	8: 43,570,036	T139M	possibly damaging	Het
Agrp	G	T	8: 105,566,835	T106K	probably damaging	Het
Akap9	C	T	5: 3,957,645	Q238*	probably null	Het
Ankrd6	A	T	4: 32,828,774	V85E	probably damaging	Het
Ap2b1	C	A	11: 83,324,604	P125T	probably damaging	Het
Arhgef7	C	A	8: 11,808,713		probably null	Het
Cblc	A	T	7: 19,790,474	D280E	probably benign	Het
Cdk11b	T	C	4: 155,648,397		probably benign	Het
Cela2a	G	T	4: 141,817,946	F239L	probably damaging	Het
Cfap57	A	T	4: 118,606,631	C342S	probably benign	Het
Clca4a	C	A	3: 144,963,755	W345L	probably damaging	Het
Col6a5	T	C	9: 105,931,293	D852G	unknown	Het
Cyp4a32	T	C	4: 115,611,308	V329A	possibly damaging	Het
Dcaf8	C	T	1: 172,175,495	P287S	probably damaging	Het
Dmxl1	T	A	18: 49,934,637	D2654E	probably damaging	Het
Dpep1	A	T	8: 123,200,747	I347F	possibly damaging	Het
Dtnb	T	A	12: 3,643,936	Y56*	probably null	Het
Duox1	T	C	2: 122,338,644	Y1182H	possibly damaging	Het
Dusp10	T	A	1: 184,037,225	S129R	probably benign	Het
Epcam	G	A	17: 87,642,128	R173Q	probably damaging	Het
Ephb3	A	G	16: 21,220,650	E384G	probably damaging	Het
Exosc10	A	T	4: 148,568,503	D525V	probably damaging	Het
Fam186a	T	A	15: 99,942,346	T2006S	possibly damaging	Het
Fbxw21	T	A	9: 109,148,174	T156S	possibly damaging	Het
Fcrl5	A	G	3: 87,457,397	E568G	probably damaging	Het
Fmn2	C	T	1: 174,608,458		probably benign	Het
Fut9	A	G	4: 25,619,744	F357L	possibly damaging	Het
Gas2l1	G	A	11: 5,064,266	H65Y	probably damaging	Het
Gjd2	A	T	2: 114,013,133	M1K	probably null	Het
Gm12169	T	C	11: 46,526,294	L13P	probably damaging	Het
Gm884	T	A	11: 103,617,071		probably benign	Het
Hdgfl3	T	C	7: 81,899,684	Y149C	probably damaging	Het
Hmcn2	T	C	2: 31,354,721	V730A	probably damaging	Het
Inpp4a	A	T	1: 37,398,799	S223C	probably damaging	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Knl1	T	A	2: 119,071,738	W1307R	probably benign	Het
Kpna3	A	G	14: 61,387,477	L139P	probably damaging	Het
Lama3	T	C	18: 12,479,872		probably null	Het
Lin54	G	A	5: 100,485,249	P192L	possibly damaging	Het
Lpo	T	A	11: 87,809,192		probably null	Het
Lrrd1	T	G	5: 3,850,483		probably null	Het
Nbas	T	A	12: 13,560,977		probably null	Het
Nemp1	G	A	10: 127,696,248	G341D	probably damaging	Het
Nrp1	T	C	8: 128,425,885	F192L	probably damaging	Het
Nufip2	T	A	11: 77,693,090	V610E	probably damaging	Het
Nup160	T	G	2: 90,700,436	Y479*	probably null	Het
Oas1d	A	T	5: 120,919,962	D323V	possibly damaging	Het
Olfr125	A	G	17: 37,835,353	D118G	possibly damaging	Het
Olfr1338	A	G	4: 118,753,600	W315R	possibly damaging	Het
Olfr140	T	C	2: 90,051,784	Y180C	probably damaging	Het
Olfr147	G	A	9: 38,403,254	V127M	possibly damaging	Het
Olfr204	T	A	16: 59,314,706	R234*	probably null	Het
Olfr25	A	T	9: 38,330,507	T307S	probably benign	Het
Olfr677	C	A	7: 105,056,794	H183N	probably damaging	Het
Pcm1	T	A	8: 41,313,359	M1567K	possibly damaging	Het
Pdxk	A	G	10: 78,443,896	V215A	probably benign	Het
Plcg1	A	G	2: 160,753,743	E537G	probably null	Het
Plxna2	C	T	1: 194,644,370	P204L	possibly damaging	Het
Ppp3cb	T	G	14: 20,524,063	M236L	probably benign	Het
Qrsl1	A	T	10: 43,896,030	S55T	probably damaging	Het
Rbm5	T	C	9: 107,743,913		probably null	Het
Sipa1l2	A	G	8: 125,444,535	S1403P	probably damaging	Het
Sis	C	T	3: 72,965,604	C67Y	probably damaging	Het
Specc1	A	G	11: 62,128,392	I686V	possibly damaging	Het
Speg	G	A	1: 75,417,863	E1739K	probably benign	Het
Sprtn	C	A	8: 124,901,633	H154Q	probably damaging	Het
St7l	A	G	3: 104,870,987	T147A	probably benign	Het
Stab1	G	A	14: 31,146,028	Q1630*	probably null	Het
Stpg2	A	G	3: 139,232,199	D173G	probably benign	Het
Tcf20	G	A	15: 82,852,777	T1491I	probably benign	Het
Themis2	A	T	4: 132,789,649	I180N	possibly damaging	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Ttn	C	T	2: 76,745,634	V24972M	probably damaging	Het
Ttn	A	G	2: 76,807,996	V13980A	probably damaging	Het
Usp5	A	T	6: 124,823,460	M286K	possibly damaging	Het
Vmn2r22	G	A	6: 123,637,843	R263C	possibly damaging	Het
Vmn2r71	T	G	7: 85,621,227	C534G	probably damaging	Het
Wdr60	T	C	12: 116,255,912	I137V	probably benign	Het
Wnk2	C	T	13: 49,060,726	S1460N	possibly damaging	Het
Zfp445	G	A	9: 122,852,642	P745S	probably damaging	Het
Zfp957	C	T	14: 79,213,996	G121D	probably damaging	Het
Zscan4f	A	G	7: 11,401,327	E220G	possibly 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
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
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'- TGTGTGGAAAAGTCCAAGAAAGCCC -3'
(R):5'- ACTGAAACTCACCTGATGATGGCG -3'

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

Posted On

2014-05-14