Mutagenetix > Incidental Mutation

Incidental Mutation 'R7352:Phf14'

570642

Institutional Source

Beutler Lab

Gene Symbol

Phf14

Ensembl Gene

ENSMUSG00000029629

Gene Name

PHD finger protein 14

Synonyms

1110001C23Rik, 4932409F11Rik, 5730446A07Rik

MMRRC Submission

045438-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7352 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11907808-12081204 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11961637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 425 (N425Y)

Ref Sequence

ENSEMBL: ENSMUSP00000111172 (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: N425Y

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

SMART Domains

Protein: ENSMUSP00000088126
Gene: ENSMUSG00000029629
AA Change: N425Y

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: N425Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111172
Gene: ENSMUSG00000029629
AA Change: N425Y

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: N425Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111173
Gene: ENSMUSG00000029629
AA Change: N425Y

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

SMART Domains

Protein: ENSMUSP00000115485
Gene: ENSMUSG00000029629
AA Change: N150Y

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	C	T	17: 24,508,028 (GRCm39)	W1124*	probably null	Het
Acap3	G	A	4: 155,990,168 (GRCm39)	V783I	possibly damaging	Het
Alkbh8	A	G	9: 3,345,796 (GRCm39)	K172R	probably damaging	Het
Ankrd28	A	G	14: 31,429,998 (GRCm39)	L860P	probably damaging	Het
Arap3	G	A	18: 38,106,331 (GRCm39)	T1504I	probably benign	Het
Atad5	T	C	11: 79,994,169 (GRCm39)		probably null	Het
Atp8a2	A	G	14: 60,028,653 (GRCm39)	V938A	probably benign	Het
AW551984	T	C	9: 39,504,221 (GRCm39)	M582V	probably benign	Het
Axdnd1	C	T	1: 156,210,047 (GRCm39)	V408I	possibly damaging	Het
Babam2	T	A	5: 32,164,594 (GRCm39)	Y326*	probably null	Het
Baiap2l1	T	C	5: 144,261,436 (GRCm39)	M20V	probably benign	Het
Bex6	A	G	16: 32,005,034 (GRCm39)		probably benign	Het
Bicc1	G	T	10: 70,783,730 (GRCm39)	T469K	probably benign	Het
Cad	T	A	5: 31,215,422 (GRCm39)	S78T	probably damaging	Het
Ccdc171	T	A	4: 83,736,260 (GRCm39)	D1210E	possibly damaging	Het
Ccnd1	T	C	7: 144,491,124 (GRCm39)	I161V	possibly damaging	Het
Cdc42bpb	A	T	12: 111,265,745 (GRCm39)	F1396I	probably damaging	Het
Cep170	A	T	1: 176,597,423 (GRCm39)	D373E	probably benign	Het
Chrna4	A	T	2: 180,679,267 (GRCm39)	I60N	probably damaging	Het
Cntn2	T	C	1: 132,450,137 (GRCm39)	T586A	probably benign	Het
Csmd2	G	T	4: 128,451,429 (GRCm39)	V3396F		Het
Cyp3a44	T	A	5: 145,740,498 (GRCm39)	L47F	probably benign	Het
D7Ertd443e	A	T	7: 133,951,123 (GRCm39)	H183Q	probably benign	Het
Ddx27	T	C	2: 166,871,433 (GRCm39)	V510A	probably benign	Het
Dgat1	G	T	15: 76,387,024 (GRCm39)	C396*	probably null	Het
Dmpk	A	G	7: 18,819,997 (GRCm39)	S83G	probably damaging	Het
Dsc2	T	G	18: 20,168,392 (GRCm39)	D689A	probably benign	Het
Eppk1	A	T	15: 75,990,618 (GRCm39)	W2088R	probably benign	Het
Exph5	A	C	9: 53,287,022 (GRCm39)	I1368L	probably benign	Het
Fadd	T	C	7: 144,134,396 (GRCm39)	K163R	probably benign	Het
Fam149a	T	A	8: 45,794,034 (GRCm39)	Q759L	probably damaging	Het
Foxo6	A	T	4: 120,125,448 (GRCm39)	M449K	probably benign	Het
Gad1	T	C	2: 70,425,094 (GRCm39)	F463L	probably benign	Het
Gad2	T	A	2: 22,513,835 (GRCm39)	F91I	probably benign	Het
Gcc2	T	C	10: 58,116,520 (GRCm39)		probably null	Het
Gjd3	A	C	11: 102,691,278 (GRCm39)	C242G	probably damaging	Het
Gkn1	T	C	6: 87,325,100 (GRCm39)	E103G	possibly damaging	Het
Gm867	T	C	10: 75,775,670 (GRCm39)	T39A	probably benign	Het
Gpr108	A	G	17: 57,543,944 (GRCm39)	Y421H	probably damaging	Het
Gramd1b	A	C	9: 40,219,289 (GRCm39)	V508G	probably damaging	Het
Grm1	A	T	10: 10,595,237 (GRCm39)	I797N	probably damaging	Het
Ice1	G	A	13: 70,754,221 (GRCm39)	Q622*	probably null	Het
Kcnb2	T	A	1: 15,780,835 (GRCm39)	V569E	probably benign	Het
Ksr2	T	G	5: 117,827,706 (GRCm39)	I495S	probably benign	Het
Litaf	A	T	16: 10,781,217 (GRCm39)	M94K	probably damaging	Het
Lmod2	T	C	6: 24,598,110 (GRCm39)	S77P	possibly damaging	Het
Lrp2	G	T	2: 69,302,741 (GRCm39)	S2996Y	probably benign	Het
Ltf	T	C	9: 110,857,518 (GRCm39)	S436P	probably benign	Het
Map4k4	T	A	1: 40,001,387 (GRCm39)	V58D	unknown	Het
Mapkapk3	C	A	9: 107,134,269 (GRCm39)	D332Y	possibly damaging	Het
Mroh1	C	A	15: 76,335,674 (GRCm39)	P1439Q	probably benign	Het
Ncor1	A	G	11: 62,224,737 (GRCm39)	V841A	probably damaging	Het
Nrxn3	A	G	12: 88,817,063 (GRCm39)	M248V	probably benign	Het
Olig2	A	G	16: 91,023,577 (GRCm39)	D97G	probably benign	Het
Or4a2	C	A	2: 89,248,311 (GRCm39)	G149W	probably damaging	Het
Or4a39	T	C	2: 89,236,806 (GRCm39)	M206V	probably benign	Het
Or4p8	T	A	2: 88,727,062 (GRCm39)	N293I	probably damaging	Het
Or5b95	A	G	19: 12,658,115 (GRCm39)	I214M	possibly damaging	Het
Or5g23	T	C	2: 85,439,128 (GRCm39)	N42S	probably damaging	Het
Or6f2	A	T	7: 139,756,438 (GRCm39)	Y135F	probably damaging	Het
Pcdha11	T	A	18: 37,139,898 (GRCm39)	V509E	probably damaging	Het
Pglyrp3	G	A	3: 91,921,947 (GRCm39)	W5*	probably null	Het
Phf3	G	T	1: 30,843,407 (GRCm39)	R1851S	possibly damaging	Het
Pigs	A	G	11: 78,219,638 (GRCm39)	T39A	probably damaging	Het
Plin4	A	G	17: 56,411,427 (GRCm39)	M868T	probably benign	Het
Pnma2	A	G	14: 67,153,870 (GRCm39)	Q98R	possibly damaging	Het
Ppp4r3a	G	A	12: 101,008,091 (GRCm39)	T782I	probably damaging	Het
Pramel52-ps	A	T	5: 94,531,743 (GRCm39)	N209I	probably damaging	Het
Prickle2	T	G	6: 92,387,871 (GRCm39)	E566D	probably benign	Het
Pvr	A	G	7: 19,644,541 (GRCm39)	I331T	possibly damaging	Het
Ranbp3l	A	T	15: 8,997,842 (GRCm39)		probably benign	Het
Rapgef4	T	A	2: 72,010,435 (GRCm39)	I331N	probably damaging	Het
Reg3g	C	T	6: 78,443,842 (GRCm39)	W122*	probably null	Het
Rigi	T	A	4: 40,239,668 (GRCm39)	Q10L	probably benign	Het
Rlbp1	A	T	7: 79,031,428 (GRCm39)	I100N	probably damaging	Het
Rnf213	T	A	11: 119,334,405 (GRCm39)	Y3206N		Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,133 (GRCm39)		probably benign	Het
Rtl6	G	T	15: 84,441,181 (GRCm39)	R72S	possibly damaging	Het
Rufy3	T	A	5: 88,785,053 (GRCm39)	D408E	possibly damaging	Het
Scn3a	T	C	2: 65,356,045 (GRCm39)	I230V	possibly damaging	Het
Slc23a4	A	T	6: 34,925,214 (GRCm39)	I507N	possibly damaging	Het
Slc4a8	A	G	15: 100,688,865 (GRCm39)	T392A	probably damaging	Het
Spaca7	T	A	8: 12,635,742 (GRCm39)	I86K	probably benign	Het
Syt10	G	T	15: 89,698,659 (GRCm39)	D228E	probably benign	Het
Tbx3	T	A	5: 119,815,625 (GRCm39)	N308K	probably benign	Het
Telo2	A	G	17: 25,321,043 (GRCm39)	V724A	probably damaging	Het
Tfip11	T	C	5: 112,481,134 (GRCm39)	V370A	probably benign	Het
Thbs3	A	G	3: 89,132,587 (GRCm39)	E843G	probably benign	Het
Tmprss11g	T	C	5: 86,644,401 (GRCm39)	I148V	not run	Het
Trbv14	T	A	6: 41,112,429 (GRCm39)	D75E	possibly damaging	Het
Trio	A	G	15: 27,732,962 (GRCm39)	V2973A	probably damaging	Het
Ttn	T	C	2: 76,624,828 (GRCm39)	D15250G	probably damaging	Het
Ubr2	G	A	17: 47,241,352 (GRCm39)	T1734I	probably benign	Het
Ush2a	G	T	1: 188,198,321 (GRCm39)	A1462S	probably benign	Het
Ushbp1	T	G	8: 71,841,525 (GRCm39)	T435P	possibly damaging	Het
Vps13c	T	C	9: 67,747,728 (GRCm39)	V7A	possibly damaging	Het
Wnk4	T	C	11: 101,155,244 (GRCm39)	V385A	probably damaging	Het
Wnt2b	C	T	3: 104,854,493 (GRCm39)	V322I	probably benign	Het
Zbtb8a	C	T	4: 129,253,874 (GRCm39)	V207M	probably benign	Het
Zc3hav1l	A	G	6: 38,275,916 (GRCm39)	M87T	probably benign	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
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
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'- TGCTATCATTCTCTAGCTATGCTGG -3'
(R):5'- GACCTGAGCTACAGTGAGATATTACC -3'

Sequencing Primer
(F):5'- ATGCTTTCAAAACTATTTTAAGGTGG -3'
(R):5'- AGCTCCTCAAAGAGCATG -3'

Posted On

2019-09-13