Mutagenetix > Incidental Mutation

Incidental Mutation 'R1469:Phf14'

164750

Institutional Source

Beutler Lab

Gene Symbol

Phf14

Ensembl Gene

ENSMUSG00000029629

Gene Name

PHD finger protein 14

Synonyms

1110001C23Rik, 4932409F11Rik, 5730446A07Rik

MMRRC Submission

039522-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1469 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11907808-12081204 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11933726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 196 (M196K)

Ref Sequence

ENSEMBL: ENSMUSP00000111173 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090632
AA Change: M196K

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000088126
Gene: ENSMUSG00000029629
AA Change: M196K

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: M196K

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000111172
Gene: ENSMUSG00000029629
AA Change: M196K

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: M196K

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000111173
Gene: ENSMUSG00000029629
AA Change: M196K

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

Meta Mutation Damage Score

0.1121

Coding Region Coverage

1x: 98.9%
3x: 95.3%
10x: 69.3%
20x: 30.3%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 77,039,526 (GRCm39)	V261E	probably damaging	Het
Abca15	A	G	7: 119,981,720 (GRCm39)	E1058G	probably benign	Het
Abcb5	T	G	12: 118,831,681 (GRCm39)	I1224L	possibly damaging	Het
Actn4	A	G	7: 28,604,753 (GRCm39)	V348A	probably benign	Het
Agtr1b	A	T	3: 20,369,664 (GRCm39)	L314H	probably damaging	Het
Ankrd55	T	C	13: 112,504,460 (GRCm39)	M402T	probably benign	Het
Asap2	A	G	12: 21,263,180 (GRCm39)	Q265R	probably benign	Het
Atp2b4	G	A	1: 133,634,677 (GRCm39)	R1124C	probably damaging	Het
Atp2c1	A	T	9: 105,312,351 (GRCm39)	C353*	probably null	Het
Atp8b5	T	A	4: 43,291,733 (GRCm39)		probably null	Het
Baz1b	T	A	5: 135,246,833 (GRCm39)	Y761N	probably damaging	Het
Bend6	A	G	1: 33,903,824 (GRCm39)	V38A	probably benign	Het
Camk1g	T	C	1: 193,044,399 (GRCm39)	E5G	possibly damaging	Het
Ccdc14	T	A	16: 34,527,152 (GRCm39)	H352Q	probably damaging	Het
Cdh2	A	G	18: 16,757,324 (GRCm39)	V641A	possibly damaging	Het
Celsr2	C	A	3: 108,321,424 (GRCm39)	D463Y	probably damaging	Het
Cfap43	A	G	19: 47,885,314 (GRCm39)	Y434H	probably damaging	Het
Cnih2	T	C	19: 5,143,730 (GRCm39)	Y142C	probably damaging	Het
Coa5	T	A	1: 37,459,681 (GRCm39)	R71*	probably null	Het
Csmd3	A	T	15: 47,532,598 (GRCm39)	Y2532*	probably null	Het
Cytl1	A	T	5: 37,892,991 (GRCm39)	M34L	probably benign	Het
Dctn1	T	A	6: 83,169,871 (GRCm39)	I590N	probably damaging	Het
Dhx57	T	C	17: 80,561,847 (GRCm39)	H889R	probably damaging	Het
Dock10	A	G	1: 80,490,275 (GRCm39)	I1948T	probably benign	Het
Dock3	A	T	9: 106,832,908 (GRCm39)	N1034K	probably benign	Het
Dzip1l	G	A	9: 99,541,829 (GRCm39)		probably null	Het
Eif4g1	T	A	16: 20,498,758 (GRCm39)	V439E	possibly damaging	Het
Eml5	T	C	12: 98,825,082 (GRCm39)	I712V	probably benign	Het
Entrep1	G	A	19: 23,950,970 (GRCm39)	T537I	probably benign	Het
Epha3	C	T	16: 63,473,857 (GRCm39)	G300D	probably damaging	Het
Erbb4	A	C	1: 68,599,841 (GRCm39)	S79A	probably damaging	Het
Gclc	T	C	9: 77,688,419 (GRCm39)	V205A	probably benign	Het
Gdpd4	A	G	7: 97,623,673 (GRCm39)		probably null	Het
Gm11564	C	T	11: 99,706,058 (GRCm39)	C124Y	unknown	Het
Gm16494	T	C	17: 47,327,770 (GRCm39)	E38G	probably damaging	Het
Gtf2h1	T	C	7: 46,454,549 (GRCm39)		probably null	Het
Gtsf2	G	T	15: 103,349,644 (GRCm39)	R68S	probably benign	Het
Heatr5b	T	C	17: 79,115,813 (GRCm39)	Q881R	probably damaging	Het
Hmox1	C	A	8: 75,825,463 (GRCm39)	L236I	probably benign	Het
Ighv8-12	T	C	12: 115,611,963 (GRCm39)	I7V	probably benign	Het
Izumo1	T	C	7: 45,272,437 (GRCm39)	S73P	probably damaging	Het
Kifbp	A	T	10: 62,395,229 (GRCm39)	F471Y	probably damaging	Het
Knl1	A	G	2: 118,901,827 (GRCm39)	N1176S	possibly damaging	Het
Mecom	A	T	3: 30,034,197 (GRCm39)	L493Q	probably damaging	Het
Mprip	T	C	11: 59,650,016 (GRCm39)	V1240A	probably damaging	Het
Mrpl3	T	C	9: 104,954,201 (GRCm39)	S302P	probably damaging	Het
Mycbp2	T	C	14: 103,425,956 (GRCm39)	T2390A	probably damaging	Het
Myo1c	T	C	11: 75,560,787 (GRCm39)	S766P	probably damaging	Het
Myo9b	A	G	8: 71,743,680 (GRCm39)	Q247R	probably damaging	Het
Nav3	G	A	10: 109,596,369 (GRCm39)	T1423I	probably damaging	Het
Nefh	A	T	11: 4,890,066 (GRCm39)	I851N	probably benign	Het
Nup98	T	C	7: 101,788,008 (GRCm39)	T1004A	probably benign	Het
Or1e17	T	C	11: 73,831,383 (GRCm39)	F104L	probably benign	Het
Or1e22	G	A	11: 73,377,149 (GRCm39)	S167L	possibly damaging	Het
Or5k8	G	A	16: 58,644,973 (GRCm39)	T33I	probably benign	Het
Or5p76	T	C	7: 108,122,411 (GRCm39)	T249A	probably benign	Het
Osgin1	G	T	8: 120,172,124 (GRCm39)	R306L	possibly damaging	Het
Otof	A	G	5: 30,537,571 (GRCm39)	L1246P	probably benign	Het
Pde8a	T	A	7: 80,952,019 (GRCm39)	N273K	probably damaging	Het
Pkd1l3	T	C	8: 110,373,585 (GRCm39)	S1374P	possibly damaging	Het
Pkhd1l1	T	C	15: 44,400,282 (GRCm39)	V2142A	probably benign	Het
Plb1	A	G	5: 32,512,170 (GRCm39)	E1318G	possibly damaging	Het
Plekhh2	A	G	17: 84,883,199 (GRCm39)	I756V	probably benign	Het
Primpol	A	G	8: 47,046,672 (GRCm39)	V208A	probably benign	Het
Ptch2	C	A	4: 116,965,662 (GRCm39)	A389E	probably benign	Het
Pzp	A	G	6: 128,489,319 (GRCm39)	Y431H	probably benign	Het
Rnf43	G	A	11: 87,622,233 (GRCm39)	G445R	probably damaging	Het
Scn5a	A	T	9: 119,362,727 (GRCm39)		probably null	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,127,419 (GRCm39)		probably benign	Het
Shisa9	T	A	16: 11,802,935 (GRCm39)	M164K	probably damaging	Het
Skint1	A	G	4: 111,882,708 (GRCm39)	I251V	probably benign	Het
Slc16a14	C	T	1: 84,907,182 (GRCm39)	D31N	probably damaging	Het
Slc22a13	T	C	9: 119,022,361 (GRCm39)	S548G	possibly damaging	Het
Slc4a9	T	C	18: 36,664,154 (GRCm39)	F316L	probably benign	Het
Smchd1	C	T	17: 71,656,725 (GRCm39)	R1914H	probably damaging	Het
Snx16	C	T	3: 10,499,431 (GRCm39)	D200N	probably damaging	Het
Spock3	A	G	8: 63,404,934 (GRCm39)	D34G	probably damaging	Het
Sspo	T	C	6: 48,467,916 (GRCm39)	C4154R	probably damaging	Het
Sytl3	C	T	17: 6,954,723 (GRCm39)	A131V	probably benign	Het
Tacc1	T	A	8: 25,672,271 (GRCm39)	D319V	probably benign	Het
Tead1	A	T	7: 112,475,391 (GRCm39)	K234I	probably damaging	Het
Tgfbrap1	C	T	1: 43,114,618 (GRCm39)	V161I	probably benign	Het
Tnfaip3	A	G	10: 18,884,017 (GRCm39)	V121A	probably damaging	Het
Tnnt2	A	G	1: 135,779,793 (GRCm39)	T297A	possibly damaging	Het
Trappc11	G	A	8: 47,957,000 (GRCm39)	L809F	probably damaging	Het
Ttn	T	C	2: 76,601,869 (GRCm39)	I18598V	probably benign	Het
Ugt1a10	G	A	1: 88,143,976 (GRCm39)	A199T	probably damaging	Het
Unc5a	A	G	13: 55,144,232 (GRCm39)	N186D	probably damaging	Het
Uqcrfs1	C	A	13: 30,724,784 (GRCm39)	G252V	probably damaging	Het
Vmn2r115	T	C	17: 23,564,992 (GRCm39)	I293T	probably damaging	Het
Vmn2r9	T	C	5: 108,991,694 (GRCm39)	T556A	probably benign	Het
Ythdc2	T	A	18: 44,997,529 (GRCm39)	Y1029N	probably benign	Het
Zfp451	T	A	1: 33,808,894 (GRCm39)	K989M	possibly damaging	Het
Zfpm1	C	T	8: 123,062,585 (GRCm39)	T548M	probably damaging	Het

Other mutations in Phf14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Phf14	APN	6	11,941,423 (GRCm39)	splice site	probably benign
IGL01120:Phf14	APN	6	11,962,739 (GRCm39)	missense	probably damaging	1.00
IGL01575:Phf14	APN	6	11,990,050 (GRCm39)	missense	probably damaging	1.00
IGL02153:Phf14	APN	6	11,934,015 (GRCm39)	missense	probably damaging	0.99
IGL02735:Phf14	APN	6	11,987,611 (GRCm39)	missense	probably benign	0.21
IGL03294:Phf14	APN	6	11,953,366 (GRCm39)	missense	probably damaging	1.00
IGL03392:Phf14	APN	6	11,962,658 (GRCm39)	missense	probably damaging	1.00
G1Funyon:Phf14	UTSW	6	11,992,061 (GRCm39)	missense	probably damaging	0.97
R0060:Phf14	UTSW	6	11,953,316 (GRCm39)	missense	probably damaging	0.97
R0099:Phf14	UTSW	6	11,987,696 (GRCm39)	unclassified	probably benign
R0384:Phf14	UTSW	6	11,997,019 (GRCm39)	splice site	probably benign
R0433:Phf14	UTSW	6	11,933,742 (GRCm39)	missense	probably damaging	1.00
R0563:Phf14	UTSW	6	11,933,600 (GRCm39)	intron	probably benign
R0590:Phf14	UTSW	6	11,961,577 (GRCm39)	missense	possibly damaging	0.72
R1066:Phf14	UTSW	6	11,987,254 (GRCm39)	missense	possibly damaging	0.47
R1187:Phf14	UTSW	6	11,941,495 (GRCm39)	missense	probably damaging	0.97
R1469:Phf14	UTSW	6	11,933,726 (GRCm39)	missense	possibly damaging	0.66
R1491:Phf14	UTSW	6	11,941,478 (GRCm39)	missense	possibly damaging	0.80
R1543:Phf14	UTSW	6	11,987,682 (GRCm39)	critical splice donor site	probably null
R1595:Phf14	UTSW	6	11,988,752 (GRCm39)	missense	possibly damaging	0.69
R1861:Phf14	UTSW	6	11,987,610 (GRCm39)	missense	probably benign	0.00
R2289:Phf14	UTSW	6	12,047,845 (GRCm39)	missense	probably damaging	1.00
R2437:Phf14	UTSW	6	11,962,657 (GRCm39)	missense	probably damaging	1.00
R3831:Phf14	UTSW	6	11,933,873 (GRCm39)	splice site	probably null
R3832:Phf14	UTSW	6	11,933,873 (GRCm39)	splice site	probably null
R3833:Phf14	UTSW	6	11,933,873 (GRCm39)	splice site	probably null
R4290:Phf14	UTSW	6	11,987,096 (GRCm39)	missense	probably damaging	1.00
R4293:Phf14	UTSW	6	11,987,096 (GRCm39)	missense	probably damaging	1.00
R4294:Phf14	UTSW	6	11,987,096 (GRCm39)	missense	probably damaging	1.00
R4295:Phf14	UTSW	6	11,987,096 (GRCm39)	missense	probably damaging	1.00
R4572:Phf14	UTSW	6	12,006,823 (GRCm39)	missense	probably damaging	1.00
R4663:Phf14	UTSW	6	11,953,421 (GRCm39)	missense	possibly damaging	0.92
R4673:Phf14	UTSW	6	11,992,056 (GRCm39)	missense	probably damaging	1.00
R4882:Phf14	UTSW	6	11,988,756 (GRCm39)	missense	possibly damaging	0.88
R4954:Phf14	UTSW	6	11,987,619 (GRCm39)	missense	probably benign	0.09
R5148:Phf14	UTSW	6	11,961,641 (GRCm39)	missense	possibly damaging	0.72
R5284:Phf14	UTSW	6	11,997,119 (GRCm39)	missense	probably damaging	0.99
R5569:Phf14	UTSW	6	11,934,015 (GRCm39)	missense	probably damaging	0.99
R5694:Phf14	UTSW	6	11,990,124 (GRCm39)	missense	possibly damaging	0.68
R5726:Phf14	UTSW	6	11,933,537 (GRCm39)	intron	probably benign
R5730:Phf14	UTSW	6	11,953,319 (GRCm39)	missense	possibly damaging	0.54
R5819:Phf14	UTSW	6	11,997,251 (GRCm39)	splice site	probably null
R5915:Phf14	UTSW	6	11,933,726 (GRCm39)	missense	possibly damaging	0.66
R6578:Phf14	UTSW	6	11,991,996 (GRCm39)	missense	probably damaging	1.00
R6950:Phf14	UTSW	6	12,006,854 (GRCm39)	missense	probably damaging	1.00
R7181:Phf14	UTSW	6	11,933,340 (GRCm39)	missense	unknown
R7352:Phf14	UTSW	6	11,961,637 (GRCm39)	missense	probably damaging	1.00
R7355:Phf14	UTSW	6	12,081,006 (GRCm39)	missense	probably benign	0.01
R7947:Phf14	UTSW	6	11,933,306 (GRCm39)	missense	unknown
R8110:Phf14	UTSW	6	11,953,422 (GRCm39)	missense	possibly damaging	0.91
R8283:Phf14	UTSW	6	11,987,636 (GRCm39)	missense	probably benign	0.20
R8301:Phf14	UTSW	6	11,992,061 (GRCm39)	missense	probably damaging	0.97
R8688:Phf14	UTSW	6	11,990,034 (GRCm39)	missense	probably damaging	0.98
R9343:Phf14	UTSW	6	11,961,563 (GRCm39)	missense	probably damaging	1.00
R9402:Phf14	UTSW	6	11,933,779 (GRCm39)	missense	possibly damaging	0.49
R9434:Phf14	UTSW	6	11,933,492 (GRCm39)	missense	unknown
X0025:Phf14	UTSW	6	11,926,812 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGAATGTCTACCATCCTTTGCCTTAG -3'
(R):5'- AGGGCTGCTATGATCTTCATCATTGC -3'

Sequencing Primer
(F):5'- gaaagaaaaaggagaaagaaaaggag -3'
(R):5'- ccctcatcattctcatcttcctc -3'

Posted On

2014-03-28