Mutagenetix > Incidental Mutation

Incidental Mutation 'R5819:Phf14'

449217

Institutional Source

Beutler Lab

Gene Symbol

Phf14

Ensembl Gene

ENSMUSG00000029629

Gene Name

PHD finger protein 14

Synonyms

5730446A07Rik, 4932409F11Rik, 1110001C23Rik

MMRRC Submission

043399-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5819 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11907809-12081205 bp(+) (GRCm38)

Type of Mutation

splice site (58 bp from exon)

DNA Base Change (assembly)

A to G at 11997252 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111173 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090632] [ENSMUST00000115510] [ENSMUST00000115511]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000090632

SMART Domains

Protein: ENSMUSP00000088126
Gene: ENSMUSG00000029629

Domain	Start	End	E-Value	Type
low complexity region	34	48	N/A	INTRINSIC
coiled coil region	61	89	N/A	INTRINSIC
low complexity region	97	130	N/A	INTRINSIC
low complexity region	131	166	N/A	INTRINSIC
low complexity region	223	251	N/A	INTRINSIC
PHD	314	371	1.64e-9	SMART
PHD	433	492	1.18e-6	SMART
coiled coil region	620	671	N/A	INTRINSIC
PHD	720	770	9.54e-11	SMART
low complexity region	830	848	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000115510

SMART Domains

Protein: ENSMUSP00000111172
Gene: ENSMUSG00000029629

Domain	Start	End	E-Value	Type
low complexity region	34	48	N/A	INTRINSIC
coiled coil region	61	89	N/A	INTRINSIC
low complexity region	97	130	N/A	INTRINSIC
low complexity region	131	166	N/A	INTRINSIC
low complexity region	223	251	N/A	INTRINSIC
PHD	314	371	1.64e-9	SMART
PHD	433	492	1.18e-6	SMART
coiled coil region	620	671	N/A	INTRINSIC
PHD	720	770	9.54e-11	SMART
low complexity region	830	848	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000115511

SMART Domains

Protein: ENSMUSP00000111173
Gene: ENSMUSG00000029629

Domain	Start	End	E-Value	Type
low complexity region	34	48	N/A	INTRINSIC
coiled coil region	61	89	N/A	INTRINSIC
low complexity region	97	130	N/A	INTRINSIC
low complexity region	131	166	N/A	INTRINSIC
low complexity region	223	251	N/A	INTRINSIC
PHD	314	371	1.64e-9	SMART
RING	315	381	1.21e1	SMART
PHD	433	492	1.18e-6	SMART
coiled coil region	620	671	N/A	INTRINSIC
PHD	720	770	9.54e-11	SMART
RING	721	769	2.63e0	SMART
low complexity region	830	848	N/A	INTRINSIC
PHD	863	912	9.92e-9	SMART
RING	864	911	3.17e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204565

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete neonatal lethality due to respiratory failure, pulmonary wall hypertrophy, abnormal sternum ossification, and increased proliferation of bone marrow-derived mesenchymal cells and mouse embryonic fibroblasts. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	T	3: 37,048,600	M4863L	probably benign	Het
Abca4	A	T	3: 122,136,981	I1376F	probably damaging	Het
Aggf1	T	C	13: 95,351,621	N673D	possibly damaging	Het
Avil	T	C	10: 127,009,998	F372S	probably damaging	Het
Bod1l	T	A	5: 41,832,605	E258D	probably benign	Het
Ccdc129	A	T	6: 55,897,891	K275N	probably benign	Het
Chek1	T	A	9: 36,710,405	H420L	probably benign	Het
Cyfip1	A	G	7: 55,879,151	I260M	probably damaging	Het
Dclk1	G	A	3: 55,489,864	V524I	probably damaging	Het
Efr3b	T	C	12: 3,992,965	M102V	probably benign	Het
Erc2	T	A	14: 28,141,369	I517N	probably damaging	Het
Fubp1	T	C	3: 152,220,553	I305T	probably damaging	Het
Galc	T	A	12: 98,216,261	D443V	probably benign	Het
Galnt4	T	A	10: 99,110,030	I539N	probably damaging	Het
Gm17093	G	T	14: 44,521,529	M169I	unknown	Het
Gm4858	A	G	3: 93,073,732	Y19C	probably damaging	Het
Htra1	T	C	7: 130,981,739	F363S	probably damaging	Het
Klhdc8b	G	A	9: 108,451,062	P64S	probably benign	Het
Kmt2c	A	G	5: 25,409,132		probably null	Het
Mettl21c	T	G	1: 44,009,722	K222Q	probably damaging	Het
Mga	A	C	2: 119,941,263	M1535L	possibly damaging	Het
Mov10	C	T	3: 104,801,512	G395D	probably damaging	Het
Ms4a10	C	A	19: 10,968,690	A26S	probably benign	Het
Naaladl1	A	G	19: 6,109,654	N372D	possibly damaging	Het
Olfr1275	A	T	2: 111,230,959	I278N	probably damaging	Het
Optc	T	C	1: 133,897,879	D303G	probably damaging	Het
Osmr	C	A	15: 6,815,787	V833L	probably benign	Het
Pjvk	A	G	2: 76,658,369	I295V	probably benign	Het
Plppr4	T	A	3: 117,325,864	I299L	possibly damaging	Het
Prkg1	A	G	19: 31,585,672	S110P	probably benign	Het
Ptprq	T	A	10: 107,719,883		probably benign	Het
Rarb	T	G	14: 16,443,820	N156T	possibly damaging	Het
Rgl3	A	T	9: 21,981,602		probably null	Het
Ruvbl1	A	C	6: 88,483,115		probably null	Het
S1pr1	G	T	3: 115,712,140	C268*	probably null	Het
Sbk3	T	C	7: 4,969,997	D58G	probably benign	Het
Scgb2b3	T	A	7: 31,360,214	H45L	possibly damaging	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261		probably benign	Het
Soga3	A	T	10: 29,197,273	M854L	probably benign	Het
Tas2r119	T	C	15: 32,177,306	L6P	probably damaging	Het
Tcp11	A	T	17: 28,069,236	F339L	probably damaging	Het
Tmprss5	T	A	9: 49,114,479		probably null	Het
Trnau1ap	A	G	4: 132,325,210		probably benign	Het
Trp53bp1	G	A	2: 121,208,392	R1397*	probably null	Het
Ubqln3	G	A	7: 104,141,467	P472L	probably benign	Het
Vmn2r13	T	A	5: 109,174,100	M244L	possibly damaging	Het
Zfp777	C	T	6: 48,037,588	E395K	probably damaging	Het
Zfyve27	A	G	19: 42,183,496	S156G	probably benign	Het

Other mutations in Phf14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Phf14	APN	6	11941424	splice site	probably benign
IGL01120:Phf14	APN	6	11962740	missense	probably damaging	1.00
IGL01575:Phf14	APN	6	11990051	missense	probably damaging	1.00
IGL02153:Phf14	APN	6	11934016	missense	probably damaging	0.99
IGL02735:Phf14	APN	6	11987612	missense	probably benign	0.21
IGL03294:Phf14	APN	6	11953367	missense	probably damaging	1.00
IGL03392:Phf14	APN	6	11962659	missense	probably damaging	1.00
G1Funyon:Phf14	UTSW	6	11992062	missense	probably damaging	0.97
R0060:Phf14	UTSW	6	11953317	missense	probably damaging	0.97
R0099:Phf14	UTSW	6	11987697	unclassified	probably benign
R0384:Phf14	UTSW	6	11997020	splice site	probably benign
R0433:Phf14	UTSW	6	11933743	missense	probably damaging	1.00
R0563:Phf14	UTSW	6	11933601	intron	probably benign
R0590:Phf14	UTSW	6	11961578	missense	possibly damaging	0.72
R1066:Phf14	UTSW	6	11987255	missense	possibly damaging	0.47
R1187:Phf14	UTSW	6	11941496	missense	probably damaging	0.97
R1469:Phf14	UTSW	6	11933727	missense	possibly damaging	0.66
R1469:Phf14	UTSW	6	11933727	missense	possibly damaging	0.66
R1491:Phf14	UTSW	6	11941479	missense	possibly damaging	0.80
R1543:Phf14	UTSW	6	11987683	critical splice donor site	probably null
R1595:Phf14	UTSW	6	11988753	missense	possibly damaging	0.69
R1861:Phf14	UTSW	6	11987611	missense	probably benign	0.00
R2289:Phf14	UTSW	6	12047846	missense	probably damaging	1.00
R2437:Phf14	UTSW	6	11962658	missense	probably damaging	1.00
R3831:Phf14	UTSW	6	11933874	splice site	probably null
R3832:Phf14	UTSW	6	11933874	splice site	probably null
R3833:Phf14	UTSW	6	11933874	splice site	probably null
R4290:Phf14	UTSW	6	11987097	missense	probably damaging	1.00
R4293:Phf14	UTSW	6	11987097	missense	probably damaging	1.00
R4294:Phf14	UTSW	6	11987097	missense	probably damaging	1.00
R4295:Phf14	UTSW	6	11987097	missense	probably damaging	1.00
R4572:Phf14	UTSW	6	12006824	missense	probably damaging	1.00
R4663:Phf14	UTSW	6	11953422	missense	possibly damaging	0.92
R4673:Phf14	UTSW	6	11992057	missense	probably damaging	1.00
R4882:Phf14	UTSW	6	11988757	missense	possibly damaging	0.88
R4954:Phf14	UTSW	6	11987620	missense	probably benign	0.09
R5148:Phf14	UTSW	6	11961642	missense	possibly damaging	0.72
R5284:Phf14	UTSW	6	11997120	missense	probably damaging	0.99
R5569:Phf14	UTSW	6	11934016	missense	probably damaging	0.99
R5694:Phf14	UTSW	6	11990125	missense	possibly damaging	0.68
R5726:Phf14	UTSW	6	11933538	intron	probably benign
R5730:Phf14	UTSW	6	11953320	missense	possibly damaging	0.54
R5915:Phf14	UTSW	6	11933727	missense	possibly damaging	0.66
R6578:Phf14	UTSW	6	11991997	missense	probably damaging	1.00
R6950:Phf14	UTSW	6	12006855	missense	probably damaging	1.00
R7181:Phf14	UTSW	6	11933341	missense	unknown
R7352:Phf14	UTSW	6	11961638	missense	probably damaging	1.00
R7355:Phf14	UTSW	6	12081007	missense	probably benign	0.01
R7947:Phf14	UTSW	6	11933307	missense	unknown
R8110:Phf14	UTSW	6	11953423	missense	possibly damaging	0.91
R8283:Phf14	UTSW	6	11987637	missense	probably benign	0.20
R8301:Phf14	UTSW	6	11992062	missense	probably damaging	0.97
R8688:Phf14	UTSW	6	11990035	missense	probably damaging	0.98
R9343:Phf14	UTSW	6	11961564	missense	probably damaging	1.00
R9402:Phf14	UTSW	6	11933780	missense	possibly damaging	0.49
R9434:Phf14	UTSW	6	11933493	missense	unknown
X0025:Phf14	UTSW	6	11926813	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAATGCTCAGAGTGTGACC -3'
(R):5'- AGCATTGATTAGGCTGGTGATC -3'

Sequencing Primer
(F):5'- CAGAGATGGCCATGGAAACCTTAC -3'
(R):5'- CAGTATTAGGCTTTTACCTGAACC -3'

Posted On

2016-12-20