Mutagenetix > Incidental Mutation

Incidental Mutation 'R0433:Phf14'

38921

Institutional Source

Beutler Lab

Gene Symbol

Phf14

Ensembl Gene

ENSMUSG00000029629

Gene Name

PHD finger protein 14

Synonyms

1110001C23Rik, 4932409F11Rik, 5730446A07Rik

MMRRC Submission

038635-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0433 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11907808-12081204 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11933742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 201 (S201R)

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

probably damaging
Transcript: ENSMUST00000090632
AA Change: S201R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000088126
Gene: ENSMUSG00000029629
AA Change: S201R

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: S201R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111172
Gene: ENSMUSG00000029629
AA Change: S201R

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: S201R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000111173
Gene: ENSMUSG00000029629
AA Change: S201R

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

0.0803

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.3%

Validation Efficiency

99% (108/109)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	C	3: 68,777,636 (GRCm39)	V199A	possibly damaging	Het
Abcb5	T	C	12: 118,841,545 (GRCm39)	M967V	probably benign	Het
Adcy10	T	A	1: 165,379,591 (GRCm39)	L951Q	probably damaging	Het
Amer2	A	T	14: 60,616,032 (GRCm39)	S76C	probably damaging	Het
Atad1	T	C	19: 32,675,877 (GRCm39)	I182M	probably benign	Het
Bpi	A	G	2: 158,100,339 (GRCm39)	D42G	probably damaging	Het
C7	G	T	15: 5,018,398 (GRCm39)	T815K	probably damaging	Het
Cacna1g	T	A	11: 94,350,033 (GRCm39)	D604V	probably benign	Het
Camk1g	A	G	1: 193,036,366 (GRCm39)	F165L	probably damaging	Het
Ccdc69	C	T	11: 54,943,716 (GRCm39)		probably null	Het
Ccser2	A	C	14: 36,640,486 (GRCm39)	F37L	probably damaging	Het
Cfap43	A	G	19: 47,814,210 (GRCm39)	F208S	probably benign	Het
Cfap54	G	A	10: 92,814,942 (GRCm39)		probably benign	Het
Cfap69	A	C	5: 5,699,853 (GRCm39)	D62E	probably damaging	Het
Cnksr2	A	T	X: 156,671,554 (GRCm39)	M483K	probably benign	Het
Cnksr2	C	A	X: 156,671,553 (GRCm39)	M483I	probably benign	Het
Cog8	T	C	8: 107,783,110 (GRCm39)	S60G	possibly damaging	Het
Col4a3	C	T	1: 82,647,940 (GRCm39)	P484S	unknown	Het
Col6a4	C	T	9: 105,945,193 (GRCm39)	G974R	probably damaging	Het
Cplane1	T	C	15: 8,246,046 (GRCm39)	S1473P	probably benign	Het
Dbnl	T	G	11: 5,746,825 (GRCm39)		probably null	Het
Dhcr7	T	C	7: 143,394,200 (GRCm39)	C114R	possibly damaging	Het
Dnah2	C	A	11: 69,350,114 (GRCm39)	D2340Y	probably damaging	Het
Dnai4	T	C	4: 102,960,450 (GRCm39)	N67D	probably benign	Het
Dusp10	T	A	1: 183,801,393 (GRCm39)	Y387N	probably damaging	Het
Eipr1	C	T	12: 28,909,330 (GRCm39)	T199I	possibly damaging	Het
Emc2	T	G	15: 43,360,520 (GRCm39)		probably null	Het
Enpp3	A	G	10: 24,696,495 (GRCm39)	S147P	probably benign	Het
Fam133b	T	A	5: 3,608,560 (GRCm39)		probably benign	Het
Fat1	C	A	8: 45,477,686 (GRCm39)	T2244K	possibly damaging	Het
Fbn1	A	G	2: 125,190,135 (GRCm39)	S1453P	possibly damaging	Het
Fez2	A	T	17: 78,725,476 (GRCm39)	F13I	probably damaging	Het
Ggnbp2	T	C	11: 84,727,246 (GRCm39)	K530R	probably damaging	Het
Gpa33	T	C	1: 165,991,330 (GRCm39)		probably benign	Het
Gpr142	T	C	11: 114,696,823 (GRCm39)	I123T	probably damaging	Het
Il21	T	G	3: 37,286,684 (GRCm39)	I11L	possibly damaging	Het
Klhl7	A	G	5: 24,332,700 (GRCm39)	E86G	probably damaging	Het
Klk10	G	T	7: 43,430,989 (GRCm39)	A11S	possibly damaging	Het
Knl1	A	T	2: 118,934,542 (GRCm39)	D2115V	probably damaging	Het
Lonp2	A	G	8: 87,360,582 (GRCm39)	D185G	probably damaging	Het
Lrrc47	T	C	4: 154,102,822 (GRCm39)		probably benign	Het
Lrrcc1	A	G	3: 14,624,434 (GRCm39)	I698V	probably damaging	Het
Lzts2	T	C	19: 45,010,115 (GRCm39)	V83A	possibly damaging	Het
Melk	C	A	4: 44,340,614 (GRCm39)		probably benign	Het
Mical1	G	A	10: 41,355,486 (GRCm39)	V150I	probably benign	Het
Morn3	C	A	5: 123,177,396 (GRCm39)	M129I	probably benign	Het
Mroh2b	T	A	15: 4,971,116 (GRCm39)	D1040E	probably benign	Het
Mroh5	T	C	15: 73,661,877 (GRCm39)	N438S	probably benign	Het
Mroh5	T	A	15: 73,662,657 (GRCm39)	Q387L	probably damaging	Het
Myh15	A	G	16: 48,965,599 (GRCm39)	D1168G	probably damaging	Het
Nek10	A	G	14: 14,860,927 (GRCm38)	E493G	probably benign	Het
Nipsnap3a	A	G	4: 53,000,316 (GRCm39)	Y227C	probably damaging	Het
Nlrp9c	T	A	7: 26,085,244 (GRCm39)	T112S	probably benign	Het
Nphp4	T	C	4: 152,602,629 (GRCm39)	V401A	probably benign	Het
Nr1h2	A	G	7: 44,199,411 (GRCm39)	*365Q	probably null	Het
Or13p5	T	C	4: 118,592,287 (GRCm39)	V187A	probably benign	Het
Or5p54	T	C	7: 107,554,469 (GRCm39)	I207T	probably damaging	Het
Pacs2	T	A	12: 113,020,464 (GRCm39)	V279D	possibly damaging	Het
Pdcd2	C	T	17: 15,746,646 (GRCm39)	C171Y	probably benign	Het
Pde11a	T	A	2: 76,168,050 (GRCm39)	D301V	possibly damaging	Het
Pfpl	T	G	19: 12,406,839 (GRCm39)	N363K	probably damaging	Het
Pip4k2c	G	A	10: 127,044,815 (GRCm39)	P66S	probably benign	Het
Pou2f3	G	T	9: 43,038,693 (GRCm39)	H392N	probably benign	Het
Pou3f1	G	T	4: 124,552,697 (GRCm39)	G400C	probably damaging	Het
Ptprg	T	C	14: 12,220,620 (GRCm38)	I1219T	probably damaging	Het
Rfx6	A	G	10: 51,596,124 (GRCm39)	D435G	probably damaging	Het
Rhpn2	T	A	7: 35,084,899 (GRCm39)	S598T	probably benign	Het
Sdccag8	C	A	1: 176,672,387 (GRCm39)		probably null	Het
Sec16b	C	A	1: 157,362,279 (GRCm39)	Y43*	probably null	Het
Sele	T	C	1: 163,876,813 (GRCm39)	Y30H	possibly damaging	Het
Sgsm2	C	T	11: 74,749,016 (GRCm39)		probably null	Het
Slc45a2	T	C	15: 11,025,831 (GRCm39)	Y394H	probably benign	Het
Slc4a10	T	G	2: 62,120,327 (GRCm39)	I788S	probably benign	Het
Slmap	A	T	14: 26,174,749 (GRCm39)	L161*	probably null	Het
Slx4	A	T	16: 3,803,882 (GRCm39)	D977E	probably benign	Het
Spata31e5	A	T	1: 28,816,423 (GRCm39)	Y536*	probably null	Het
Spata31f3	A	G	4: 42,874,013 (GRCm39)		probably benign	Het
Spen	A	T	4: 141,211,069 (GRCm39)	M608K	unknown	Het
St8sia4	G	C	1: 95,519,429 (GRCm39)	T353R	probably damaging	Het
Stab2	G	T	10: 86,679,355 (GRCm39)		probably benign	Het
Stx12	C	T	4: 132,585,741 (GRCm39)	G213D	probably damaging	Het
Synj2	A	T	17: 6,084,123 (GRCm39)	N270Y	probably damaging	Het
Tdrd9	C	T	12: 111,992,015 (GRCm39)	R438*	probably null	Het
Tert	T	C	13: 73,775,200 (GRCm39)	Y18H	probably damaging	Het
Tph1	A	T	7: 46,303,245 (GRCm39)	F244L	probably damaging	Het
Triobp	T	C	15: 78,852,401 (GRCm39)	F852L	possibly damaging	Het
Trpv1	T	C	11: 73,143,834 (GRCm39)		probably benign	Het
Uggt2	A	T	14: 119,312,741 (GRCm39)		probably null	Het
Ulk4	A	G	9: 120,873,885 (GRCm39)	I1182T	probably benign	Het
Uqcc1	A	G	2: 155,752,288 (GRCm39)	Y98H	probably damaging	Het
Usp25	A	G	16: 76,906,105 (GRCm39)	I854V	probably benign	Het
Usp50	T	C	2: 126,603,464 (GRCm39)	S361G	probably damaging	Het
Uspl1	C	A	5: 149,151,625 (GRCm39)	Q743K	probably damaging	Het
Vmn2r3	A	G	3: 64,183,054 (GRCm39)	V215A	possibly damaging	Het
Vmn2r61	A	T	7: 41,915,335 (GRCm39)	H94L	probably benign	Het
Vps37c	T	C	19: 10,690,393 (GRCm39)	V285A	probably benign	Het
Vwa8	T	C	14: 79,300,116 (GRCm39)	V983A	probably damaging	Het
Zcchc9	C	T	13: 91,954,081 (GRCm39)	R58H	probably benign	Het
Zdbf2	T	C	1: 63,345,302 (GRCm39)	V1227A	possibly damaging	Het
Zfp292	T	C	4: 34,839,959 (GRCm39)	K64E	probably damaging	Het
Zfp948	A	G	17: 21,807,764 (GRCm39)	T319A	probably benign	Het
Zp3r	T	G	1: 130,504,870 (GRCm39)		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
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
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

2013-05-23