Mutagenetix > Incidental Mutation

Incidental Mutation 'R0384:Phf14'

31161

Institutional Source

Beutler Lab

Gene Symbol

Phf14

Ensembl Gene

ENSMUSG00000029629

Gene Name

PHD finger protein 14

Synonyms

5730446A07Rik, 4932409F11Rik, 1110001C23Rik

MMRRC Submission

038590-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0384 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11907809-12081205 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 11997020 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 benign
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 benign
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 benign
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: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.7%

Validation Efficiency

100% (72/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	T	A	7: 139,986,812		probably benign	Het
Akr1b8	T	C	6: 34,364,330		probably benign	Het
Arhgef39	A	G	4: 43,498,613	L117P	probably damaging	Het
Atp13a1	A	T	8: 69,797,324	Q356L	possibly damaging	Het
Bmp2k	T	A	5: 97,031,125		probably benign	Het
Ccdc141	A	G	2: 77,027,648	V1063A	probably damaging	Het
Col20a1	T	C	2: 180,999,162	Y568H	probably benign	Het
Crabp2	T	C	3: 87,953,021	V134A	possibly damaging	Het
Cyp19a1	T	C	9: 54,172,741	K265E	probably benign	Het
Cyp2j9	T	C	4: 96,585,885	H106R	probably benign	Het
Dcps	T	C	9: 35,175,943	K9R	probably damaging	Het
Dnajc6	C	T	4: 101,598,956	T47I	probably damaging	Het
Dnhd1	T	G	7: 105,720,114	S4315A	possibly damaging	Het
Dnmt3l	A	T	10: 78,052,737	I158F	possibly damaging	Het
Dock3	A	G	9: 106,901,895		probably benign	Het
Eefsec	A	G	6: 88,281,650		probably null	Het
Fam204a	T	C	19: 60,221,296	M1V	probably null	Het
Fam98b	T	C	2: 117,267,847	V266A	possibly damaging	Het
Fat2	A	T	11: 55,269,465	I3274N	possibly damaging	Het
Fbxo18	A	G	2: 11,749,578	I198T	probably damaging	Het
Fer	T	C	17: 63,924,184		probably benign	Het
Fhad1	T	A	4: 142,002,426	M89L	probably benign	Het
Fjx1	C	A	2: 102,451,107	C161F	probably damaging	Het
Fkbp7	T	A	2: 76,665,824		probably benign	Het
Gm42669	T	A	5: 107,508,798	C976S	probably benign	Het
Gm4845	T	C	1: 141,257,085		noncoding transcript	Het
Herc1	T	A	9: 66,481,050		probably benign	Het
Hook3	C	T	8: 26,044,235		probably null	Het
Idh2	C	T	7: 80,098,257	A232T	probably damaging	Het
Itga2b	A	T	11: 102,465,362		probably null	Het
Klk1b21	T	C	7: 44,105,493	Y71H	probably benign	Het
Kndc1	A	T	7: 139,910,599	N339I	possibly damaging	Het
Ky	C	T	9: 102,542,090	T432I	probably benign	Het
Map4	C	T	9: 110,034,628	T307I	probably damaging	Het
Matn1	T	C	4: 130,944,476	L18P	probably benign	Het
Mindy4	G	A	6: 55,216,684	D121N	probably damaging	Het
Mpv17l	A	T	16: 13,940,999	I96L	probably benign	Het
Msto1	G	A	3: 88,910,339	Q441*	probably null	Het
Muc5ac	A	G	7: 141,812,251	H2048R	possibly damaging	Het
Musk	T	C	4: 58,373,711	*879Q	probably null	Het
Nat8f2	T	C	6: 85,868,368	Y4C	possibly damaging	Het
Ncaph2	T	A	15: 89,369,391	I282N	probably benign	Het
Nid1	A	G	13: 13,463,836	T114A	probably benign	Het
Npr1	C	A	3: 90,465,167	G113C	probably damaging	Het
Nrxn1	G	A	17: 90,208,347	P193S	probably damaging	Het
Nwd2	T	C	5: 63,805,682	F870L	probably benign	Het
Olfr1076	T	A	2: 86,509,383	I308K	possibly damaging	Het
Olfr1228	A	G	2: 89,249,070	I208T	possibly damaging	Het
Olfr55	A	G	17: 33,176,548	I45V	probably damaging	Het
Olfr787	T	A	10: 129,463,040	Y121*	probably null	Het
Pnpla5	G	T	15: 84,120,719	L144M	probably damaging	Het
Prdm2	T	C	4: 143,135,688	E344G	probably benign	Het
Psmd12	T	C	11: 107,485,721	V61A	probably benign	Het
Relt	T	C	7: 100,847,505	D385G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Scg2	T	A	1: 79,435,549	I446F	probably benign	Het
Sema3b	G	A	9: 107,600,966	L407F	probably damaging	Het
Slc25a13	A	T	6: 6,042,600	Y601*	probably null	Het
Sun5	C	T	2: 153,858,965	V270I	probably benign	Het
Tex52	A	G	6: 128,379,533	Y63C	probably damaging	Het
Tmem138	A	G	19: 10,574,822		probably benign	Het
Tnpo3	A	G	6: 29,582,164		probably null	Het
Tspoap1	A	T	11: 87,766,454	Q364L	probably damaging	Het
Ttc41	T	C	10: 86,763,947	L1037P	probably damaging	Het
Ugcg	T	A	4: 59,220,387	D393E	possibly damaging	Het
Vmn1r184	T	C	7: 26,267,651	I274T	probably benign	Het
Vmn2r27	A	G	6: 124,223,912	V362A	probably benign	Het
Vmn2r87	T	A	10: 130,471,843	Y842F	probably benign	Het
Vps8	T	A	16: 21,506,825		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
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
R5819:Phf14	UTSW	6	11997252	splice site	probably null
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'- ACTTGTGTTGGTTCACAACAGCATTG -3'
(R):5'- CTCGACAGGTAAACTTGCTGAGGG -3'

Sequencing Primer
(F):5'- GTCATTACCACACTACCTGTGTGTA -3'
(R):5'- TACATTGGGATGTCACTGAGACC -3'

Posted On

2013-04-24