Mutagenetix > Incidental Mutation

Incidental Mutation 'R4663:Phf14'

352998

Institutional Source

Beutler Lab

Gene Symbol

Phf14

Ensembl Gene

ENSMUSG00000029629

Gene Name

PHD finger protein 14

Synonyms

5730446A07Rik, 4932409F11Rik, 1110001C23Rik

MMRRC Submission

041921-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4663 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11907809-12081205 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11953422 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 387 (I387V)

Ref Sequence

ENSEMBL: ENSMUSP00000111173 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090632
AA Change: I387V

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000088126
Gene: ENSMUSG00000029629
AA Change: I387V

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: I387V

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111172
Gene: ENSMUSG00000029629
AA Change: I387V

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: ENSMUST00000115511
AA Change: I387V

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111173
Gene: ENSMUSG00000029629
AA Change: I387V

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: I112V

SMART Domains

Protein: ENSMUSP00000115485
Gene: ENSMUSG00000029629
AA Change: I112V

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: ENSMUST00000203459

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,218,455	V1496A	probably benign	Het
Aqr	A	T	2: 114,161,666	Y76*	probably null	Het
Armc5	C	A	7: 128,238,545	A140E	probably benign	Het
Auts2	T	C	5: 131,439,638	H947R	probably damaging	Het
Bag2	T	C	1: 33,746,993	T83A	probably damaging	Het
Bag4	C	T	8: 25,769,488	A228T	probably benign	Het
Bean1	A	G	8: 104,211,167	Y126C	probably damaging	Het
Cars	T	C	7: 143,575,960	E330G	probably damaging	Het
Ccdc40	A	G	11: 119,231,506	I45V	probably benign	Het
Cd320	G	A	17: 33,848,178	G214R	probably null	Het
Ckm	G	A	7: 19,419,494	V237M	probably damaging	Het
Cspg4	T	C	9: 56,886,676	V565A	possibly damaging	Het
Ephb6	A	G	6: 41,617,865	Y638C	probably damaging	Het
Epp13	T	G	7: 6,258,625	I35S	possibly damaging	Het
Fam196a	A	T	7: 134,899,148	Y409*	probably null	Het
Fat2	G	C	11: 55,296,213	S1269*	probably null	Het
Fbxo3	T	C	2: 104,053,475	V348A	probably damaging	Het
Gas6	G	A	8: 13,470,254	P478L	probably damaging	Het
Gm11492	T	A	11: 87,567,603	Y268N	probably damaging	Het
Herc1	T	C	9: 66,433,378	S1670P	probably damaging	Het
Hnrnpk	C	A	13: 58,394,517	R281L	probably damaging	Het
Ifih1	C	A	2: 62,609,219	C488F	probably benign	Het
Ift172	T	C	5: 31,284,215	K192E	probably benign	Het
Ighv5-9	T	A	12: 113,661,820	Q101L	probably benign	Het
Igkv3-2	G	T	6: 70,698,879	M57I	probably benign	Het
Itpr2	A	G	6: 146,373,173	F837S	probably damaging	Het
L3mbtl3	T	C	10: 26,337,817	Y237C	unknown	Het
Lats1	G	A	10: 7,712,583	C988Y	probably damaging	Het
Lgals3	T	A	14: 47,381,622		probably null	Het
Lrrc3b	G	T	14: 15,358,220	H129N	probably benign	Het
Lrriq1	T	C	10: 103,063,412	H1656R	possibly damaging	Het
Lypd6	T	G	2: 50,173,611	Y43*	probably null	Het
Mfsd7a	T	C	5: 108,442,145	M464V	probably benign	Het
Mical2	A	G	7: 112,328,677	D674G	possibly damaging	Het
Msi1	G	A	5: 115,450,275	R284Q	probably damaging	Het
Mybpc2	T	C	7: 44,505,642	E947G	probably damaging	Het
Nat14	T	A	7: 4,924,447	L206Q	probably damaging	Het
Nup88	A	T	11: 70,965,846		probably null	Het
Olfr27	A	T	9: 39,144,849	I250F	probably damaging	Het
Olfr727	A	G	14: 50,127,482	R302G	probably benign	Het
Olfr743	A	T	14: 50,533,604	Y64F	probably damaging	Het
Pdcl	T	C	2: 37,355,766	E75G	probably damaging	Het
Phf3	G	A	1: 30,821,215	R845W	probably damaging	Het
Pm20d1	T	C	1: 131,798,602	I59T	probably damaging	Het
Prkd1	C	T	12: 50,419,848		probably null	Het
Psmb2	T	C	4: 126,677,765	L4P	probably damaging	Het
Pttg1	T	A	11: 43,424,850	K46*	probably null	Het
Rrnad1	A	G	3: 87,927,748	S82P	probably damaging	Het
Ryr2	T	C	13: 11,749,509	H1401R	possibly damaging	Het
Sh3d19	G	A	3: 86,123,263	D696N	probably benign	Het
Slc16a2	T	C	X: 103,707,979	T274A	probably benign	Het
Slc26a6	G	A	9: 108,857,907	A335T	probably damaging	Het
Slc6a5	C	A	7: 49,938,398	Y493*	probably null	Het
Slf1	A	T	13: 77,126,604	S37R	probably damaging	Het
Smoc1	G	A	12: 81,167,602	G264S	probably damaging	Het
Snapc4	T	C	2: 26,374,181	E280G	possibly damaging	Het
Snx25	G	A	8: 46,035,579	T913M	probably damaging	Het
Snx7	T	C	3: 117,800,879	T408A	probably benign	Het
Spdya	T	A	17: 71,578,344	S264R	probably benign	Het
Spg11	A	T	2: 122,098,099		probably null	Het
Suz12	T	A	11: 80,013,524	L230Q	probably damaging	Het
Szt2	A	G	4: 118,377,684		probably benign	Het
Tenm3	C	A	8: 48,235,970	R2194L	probably damaging	Het
Tmed8	T	A	12: 87,174,231	I194F	probably damaging	Het
Tmem79	T	A	3: 88,333,444	T66S	probably damaging	Het
Trappc1	T	A	11: 69,325,511	S118T	probably benign	Het
Ttn	C	T	2: 76,738,881	V27223I	probably benign	Het
Ttn	T	C	2: 76,776,495	T18024A	probably damaging	Het
Vmn2r15	C	T	5: 109,294,074	M164I	probably benign	Het
Vmn2r53	T	A	7: 12,600,974	Y253F	probably benign	Het
Wdr92	T	C	11: 17,232,853	V338A	probably benign	Het
Zfand6	C	T	7: 84,617,885	R163H	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
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'- TGCATAGGGCTAACAACTTTTG -3'
(R):5'- ATCTACATGGCCAAGTCACTC -3'

Sequencing Primer
(F):5'- GCTGTAAGGTGAAAAAGAGTTTTTG -3'
(R):5'- CACTCCTCTATGTCAAGAAGATGGG -3'

Posted On

2015-10-08