Mutagenetix > Incidental Mutation

Incidental Mutation 'R5569:Phf14'

435524

Institutional Source

Beutler Lab

Gene Symbol

Phf14

Ensembl Gene

ENSMUSG00000029629

Gene Name

PHD finger protein 14

Synonyms

5730446A07Rik, 4932409F11Rik, 1110001C23Rik

MMRRC Submission

043126-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5569 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11907809-12081205 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11934016 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 292 (N292K)

Ref Sequence

ENSEMBL: ENSMUSP00000111172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090632] [ENSMUST00000115510] [ENSMUST00000115511] [ENSMUST00000155037] [ENSMUST00000203459]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000090632
AA Change: N292K

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000088126
Gene: ENSMUSG00000029629
AA Change: N292K

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 damaging
Transcript: ENSMUST00000115510
AA Change: N292K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111172
Gene: ENSMUSG00000029629
AA Change: N292K

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
AA Change: N292K

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000111173
Gene: ENSMUSG00000029629
AA Change: N292K

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

probably benign
Transcript: ENSMUST00000133776

SMART Domains

Protein: ENSMUSP00000115485
Gene: ENSMUSG00000029629

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
PHD	40	97	1.64e-9	SMART
PHD	159	218	1.18e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000155037

SMART Domains

Protein: ENSMUSP00000144981
Gene: ENSMUSG00000029629

Domain	Start	End	E-Value	Type
low complexity region	34	48	N/A	INTRINSIC
coiled coil region	61	89	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203459

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 94.9%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	A	G	5: 121,626,080	S929P	probably damaging	Het
Ackr3	A	G	1: 90,214,841	T341A	probably benign	Het
Acox3	A	G	5: 35,603,033	Y431C	probably damaging	Het
Adamtsl2	G	A	2: 27,102,833	V653M	probably damaging	Het
Anks6	T	C	4: 47,045,007	K300E	probably damaging	Het
Ap5z1	A	T	5: 142,474,451	D495V	probably damaging	Het
Atm	A	T	9: 53,516,450	Y453*	probably null	Het
Atpaf2	A	T	11: 60,416,880	W11R	probably damaging	Het
Capn1	T	A	19: 6,013,660	T129S	probably benign	Het
Cdh17	A	G	4: 11,816,990	I800M	probably damaging	Het
Cfap206	C	T	4: 34,724,892	R69Q	probably damaging	Het
Cp	T	C	3: 19,978,877	Y623H	probably damaging	Het
Dcaf5	A	T	12: 80,340,201	Y384N	probably damaging	Het
Dhx9	A	T	1: 153,467,092	C555S	possibly damaging	Het
Dlg2	A	G	7: 91,968,180	T317A	probably benign	Het
Dsp	C	T	13: 38,192,652	T1471I	probably benign	Het
Ebf1	A	G	11: 44,992,401	M489V	possibly damaging	Het
Enpp3	T	C	10: 24,778,821	D230G	probably damaging	Het
Eri3	T	C	4: 117,649,356	M294T	possibly damaging	Het
Fat1	T	A	8: 45,039,836	V3842E	probably damaging	Het
Fermt1	T	A	2: 132,915,203	Y569F	possibly damaging	Het
Fscn1	A	G	5: 142,961,044	D199G	probably benign	Het
Glce	A	G	9: 62,070,203	V133A	probably benign	Het
Gm10020	T	C	15: 52,478,228		noncoding transcript	Het
Gm16432	A	T	1: 178,111,596	K678N	possibly damaging	Het
Gm5096	A	C	18: 87,757,268	Y305S	probably damaging	Het
Gtf2h3	C	T	5: 124,584,297	T121I	probably benign	Het
Hk1	A	G	10: 62,286,441	S520P	probably benign	Het
Ighv12-3	A	G	12: 114,366,935	V7A	probably benign	Het
Ighv6-7	C	A	12: 114,455,856	A43S	probably damaging	Het
Inf2	A	G	12: 112,601,679	I222V	possibly damaging	Het
Kmo	T	A	1: 175,655,122	N337K	probably benign	Het
Mcf2l	C	T	8: 13,005,481	R611W	probably damaging	Het
Mipep	A	T	14: 60,802,934	H301L	probably damaging	Het
Mprip	A	T	11: 59,760,963	E1831V	probably damaging	Het
Mrgpra3	T	C	7: 47,590,011	T56A	probably benign	Het
Mtmr14	G	A	6: 113,240,285	V53I	probably damaging	Het
Mycbp2	A	T	14: 103,135,243	W4056R	probably damaging	Het
Myl2	A	T	5: 122,106,720	D151V	possibly damaging	Het
Myo5c	A	T	9: 75,273,510	D727V	probably damaging	Het
Olfr381	A	T	11: 73,486,692	I44N	probably damaging	Het
Olfr466	A	G	13: 65,152,979	T252A	possibly damaging	Het
Olfr504	T	A	7: 108,565,565	M77L	probably benign	Het
Olfr693	A	T	7: 106,678,483	M1K	probably null	Het
Olfr982	A	G	9: 40,074,297	M1V	probably null	Het
Pabpc1l	C	T	2: 164,043,554	T409I	probably benign	Het
Pcgf1	C	T	6: 83,079,705	R81*	probably null	Het
Pcgf2	A	G	11: 97,692,367		probably null	Het
Plin4	T	C	17: 56,102,147	T1358A	probably benign	Het
Pomgnt1	T	C	4: 116,155,967	S423P	probably damaging	Het
Pqlc3	T	A	12: 16,995,628	I114F	possibly damaging	Het
Prep	G	A	10: 45,097,437	V214I	probably benign	Het
Ptger1	T	C	8: 83,668,332		probably null	Het
Pus7	C	T	5: 23,748,834	G415D	probably benign	Het
Rbm44	C	T	1: 91,168,738	P940S	probably damaging	Het
Ripor1	A	T	8: 105,617,515	D427V	probably damaging	Het
Rp1	A	G	1: 4,345,237	I1884T	probably damaging	Het
Serinc2	T	C	4: 130,278,479	R7G	probably benign	Het
Serpina6	A	C	12: 103,654,460	F10C	possibly damaging	Het
Skint5	T	A	4: 113,688,706		probably null	Het
Slc6a4	A	T	11: 77,023,255	I544F	possibly damaging	Het
Spdye4b	T	C	5: 143,202,421	M223T	probably benign	Het
Tbc1d17	A	T	7: 44,848,331	V39D	probably damaging	Het
Thbs3	T	A	3: 89,219,463	Y295N	probably damaging	Het
Themis	G	A	10: 28,781,891	E152K	possibly damaging	Het
Tmem131	A	T	1: 36,799,338	I1502N	probably benign	Het
Tmem43	T	A	6: 91,477,354	M41K	probably benign	Het
Tmprss6	A	C	15: 78,440,303	W771G	probably damaging	Het
Trp53tg5	T	C	2: 164,471,336	T140A	probably benign	Het
Uchl1	A	G	5: 66,686,873	E206G	probably damaging	Het
Vash2	A	G	1: 190,960,291	V229A	possibly damaging	Het
Vmn1r192	C	A	13: 22,187,214	A279S	possibly damaging	Het
Vmn1r32	T	C	6: 66,553,172	R207G	probably damaging	Het
Vmn2r14	T	A	5: 109,220,395	M244L	probably benign	Het
Vwa5b2	T	A	16: 20,595,339	H236Q	probably damaging	Het
Zfp652	C	T	11: 95,749,290	P14S	probably benign	Het
Zfp668	G	A	7: 127,867,823	R194*	probably null	Het
Zgrf1	G	T	3: 127,561,025	V98L	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
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'- ATCAGCGTCTCAGAAGGAGG -3'
(R):5'- ACTACAGATCCAGGAGAATGTTG -3'

Sequencing Primer
(F):5'- CGTCTCAGAAGGAGGGCAGTG -3'
(R):5'- TCCAGGAGAATGTTGACAAATAGTG -3'

Posted On

2016-10-24