Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03392:Phf14'

421090

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phf14

Ensembl Gene

ENSMUSG00000029629

Gene Name

PHD finger protein 14

Synonyms

5730446A07Rik, 4932409F11Rik, 1110001C23Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03392

Quality Score

Status

Chromosome

Chromosomal Location

11907809-12081205 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 11962659 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 435 (S435N)

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 damaging
Transcript: ENSMUST00000090632
AA Change: S435N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088126
Gene: ENSMUSG00000029629
AA Change: S435N

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

possibly damaging
Transcript: ENSMUST00000115510
AA Change: S435N

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000111172
Gene: ENSMUSG00000029629
AA Change: S435N

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: ENSMUST00000115511
AA Change: S435N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111173
Gene: ENSMUSG00000029629
AA Change: S435N

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

unknown
Transcript: ENSMUST00000133776
AA Change: S160N

SMART Domains

Protein: ENSMUSP00000115485
Gene: ENSMUSG00000029629
AA Change: S160N

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

Coding Region Coverage

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	A	2: 155,562,011	D692E	probably damaging	Het
Adgrb3	T	A	1: 25,504,448	R366S	probably damaging	Het
Afg3l2	C	A	18: 67,414,069		probably benign	Het
Cd5	T	C	19: 10,726,289		probably benign	Het
Cnbd1	A	G	4: 18,862,111	S360P	probably damaging	Het
Col13a1	A	T	10: 61,885,711	L305I	possibly damaging	Het
Commd7	A	T	2: 153,622,764		probably benign	Het
Cpsf6	A	T	10: 117,367,979	Y23N	probably damaging	Het
Cry1	A	G	10: 85,157,129	V75A	possibly damaging	Het
Cyp2c39	A	G	19: 39,513,323	N107D	probably benign	Het
Dcaf11	T	A	14: 55,561,421	V45E	probably damaging	Het
Dnm2	A	G	9: 21,474,611	E310G	probably damaging	Het
Fat3	T	A	9: 16,003,862	I1597L	probably benign	Het
Fcamr	A	G	1: 130,800,948		probably benign	Het
Fer	A	G	17: 63,991,642	I529V	probably damaging	Het
Fhdc1	T	C	3: 84,444,519	K1133R	possibly damaging	Het
Foxd3	A	G	4: 99,657,195	K191E	probably damaging	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gbp8	A	G	5: 105,016,544		probably null	Het
Glb1	T	G	9: 114,430,321	N106K	probably damaging	Het
Hpx	A	G	7: 105,592,402	I295T	probably damaging	Het
Ipo5	T	A	14: 120,942,687	D844E	probably damaging	Het
Krt17	T	C	11: 100,259,735	I159V	possibly damaging	Het
Lgi4	G	A	7: 31,063,180		probably null	Het
Lrrc49	T	C	9: 60,666,280		probably benign	Het
Ltn1	T	C	16: 87,425,611	K178R	probably damaging	Het
Myh8	T	A	11: 67,294,418	W832R	probably damaging	Het
Nbn	A	G	4: 15,962,362	N30S	probably damaging	Het
Olfr1245	A	T	2: 89,575,249	V159D	probably damaging	Het
Olfr1312	T	A	2: 112,042,976	N19Y	probably benign	Het
Olfr137	A	G	17: 38,304,895	S189P	probably benign	Het
Olfr632	T	C	7: 103,938,025	V215A	probably benign	Het
Pcdh15	A	T	10: 74,624,272	I1314F	probably damaging	Het
Prss45	T	A	9: 110,840,550	Y231*	probably null	Het
Pus7l	T	C	15: 94,536,568	D339G	probably damaging	Het
Sbk2	A	G	7: 4,957,409	F254S	probably damaging	Het
Serpina1b	T	G	12: 103,732,070	K173N	possibly damaging	Het
Slc13a5	G	A	11: 72,245,178	T469I	probably damaging	Het
Spon1	A	G	7: 114,034,287	E655G	probably damaging	Het
Sv2b	T	C	7: 75,156,760		probably null	Het
Treh	A	G	9: 44,685,931	D514G	probably damaging	Het
Umodl1	T	A	17: 30,996,355	L1051Q	probably damaging	Het
Usp5	A	G	6: 124,826,387	F4S	probably damaging	Het
Vmn1r16	A	G	6: 57,322,894	S248P	probably damaging	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
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
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

Posted On

2016-08-02