Mutagenetix > Incidental Mutation

Incidental Mutation 'R6338:Phf20'

514306

Institutional Source

Beutler Lab

Gene Symbol

Phf20

Ensembl Gene

ENSMUSG00000038116

Gene Name

PHD finger protein 20

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.887) question?

Stock #

R6338 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

156196466-156309952 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 156273686 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 309 (Q309L)

Ref Sequence

ENSEMBL: ENSMUSP00000043138 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037401]

AlphaFold

Q8BLG0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037401
AA Change: Q309L

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000043138
Gene: ENSMUSG00000038116
AA Change: Q309L

Domain	Start	End	E-Value	Type
TUDOR	11	71	5.27e0	SMART
TUDOR	85	141	7.13e-4	SMART
AT_hook	257	269	1.65e0	SMART
low complexity region	323	332	N/A	INTRINSIC
ZnF_C2H2	455	480	1.86e0	SMART
low complexity region	486	493	N/A	INTRINSIC
low complexity region	526	555	N/A	INTRINSIC
low complexity region	612	630	N/A	INTRINSIC
PHD	657	701	2.83e-4	SMART
coiled coil region	945	966	N/A	INTRINSIC
low complexity region	974	987	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131479

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152617

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, decreased body size and total body fat amount, and abnormal skeletal and hematopoietic development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer3	T	C	7: 98,257,715	Y128C	probably damaging	Het
Adam30	T	G	3: 98,161,541	I102S	probably damaging	Het
Adcy8	A	T	15: 64,920,617	D163E	possibly damaging	Het
Agrn	C	T	4: 156,170,585	E1614K	probably benign	Het
Aldh16a1	A	T	7: 45,141,961	W107R	probably damaging	Het
Arfgef2	A	G	2: 166,845,570	D238G	probably damaging	Het
Arhgap11a	T	C	2: 113,833,725	S738G	probably benign	Het
Arid5b	C	A	10: 68,098,561	G504*	probably null	Het
Carmil3	T	C	14: 55,499,849	V763A	possibly damaging	Het
Cd209e	T	A	8: 3,849,154	D186V	probably damaging	Het
Cdh23	T	C	10: 60,413,151	D882G	probably damaging	Het
Cdh4	T	C	2: 179,890,812	V689A	probably damaging	Het
Cntn6	T	A	6: 104,726,139	V174E	probably damaging	Het
Col7a1	C	T	9: 108,956,633	T390M	unknown	Het
Crybg1	T	C	10: 43,992,509	D1017G	probably damaging	Het
Csmd1	T	G	8: 15,932,492	K2725T	possibly damaging	Het
Dnaaf2	T	C	12: 69,198,122	E55G	probably damaging	Het
Fam13a	A	G	6: 58,953,499	V476A	probably damaging	Het
Fem1b	A	T	9: 62,797,011	D322E	probably benign	Het
Frmpd1	G	A	4: 45,274,489	V466I	probably benign	Het
Gm11639	C	T	11: 104,843,208	R2027*	probably null	Het
Gm20671	A	T	5: 32,820,647	D1794E	probably damaging	Het
Gpatch2	G	T	1: 187,225,514	R22L	probably damaging	Het
Gtf2h1	A	G	7: 46,816,456	T450A	probably benign	Het
Kcnc2	G	C	10: 112,271,856	G51R	probably benign	Het
Krit1	T	G	5: 3,836,857	M702R	probably benign	Het
Krt34	T	C	11: 100,038,490	N298S	probably benign	Het
Lrrcc1	T	A	3: 14,547,316	N376K	possibly damaging	Het
Myo15	A	G	11: 60,478,133	E573G	probably damaging	Het
Olfr1224-ps1	T	A	2: 89,156,371	K268I	probably damaging	Het
Olfr1390	A	G	11: 49,340,867	S112G	probably benign	Het
Olfr366	A	T	2: 37,219,822	D111V	probably damaging	Het
Olfr391-ps	A	T	11: 73,799,319	L146Q	possibly damaging	Het
Olfr661	T	A	7: 104,688,171	V52E	possibly damaging	Het
Olfr736	T	A	14: 50,393,400	F215I	possibly damaging	Het
Plcd1	G	A	9: 119,074,991	R292C	probably damaging	Het
Pold3	A	G	7: 100,088,105	V342A	possibly damaging	Het
Polr2a	A	T	11: 69,739,679		probably null	Het
Ptprcap	A	G	19: 4,156,224	E102G	probably benign	Het
Rab11fip5	T	C	6: 85,341,378	E843G	possibly damaging	Het
Rai14	T	C	15: 10,574,976	D632G	probably damaging	Het
Rnf149	A	T	1: 39,560,742	C268S	probably null	Het
Slc6a13	T	A	6: 121,334,839	F392I	probably damaging	Het
Slc7a11	C	T	3: 50,384,043		probably null	Het
Slf1	T	A	13: 77,084,462		probably null	Het
Stard9	G	A	2: 120,697,485	V1408I	probably benign	Het
Suclg1	T	C	6: 73,264,246	I183T	probably damaging	Het
Syne1	T	C	10: 5,255,475	E3497G	probably benign	Het
Tax1bp1	C	T	6: 52,729,376	R121*	probably null	Het
Tdpoz2	C	T	3: 93,652,336	V110I	probably benign	Het
Ubn2	A	G	6: 38,490,714	T788A	probably benign	Het
Unc13c	T	A	9: 73,734,447	I1255F	probably damaging	Het
Usp44	G	T	10: 93,846,513	R275I	probably damaging	Het
Uspl1	A	G	5: 149,215,034	N1015D	probably benign	Het
Wbp2nl	G	T	15: 82,299,045	W13C	possibly damaging	Het
Zc3h14	T	A	12: 98,758,590	D170E	possibly damaging	Het

Other mutations in Phf20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00928:Phf20	APN	2	156304816	critical splice donor site	probably null
IGL01071:Phf20	APN	2	156294088	splice site	probably null
IGL01125:Phf20	APN	2	156303184	splice site	probably null
IGL01608:Phf20	APN	2	156276596	missense	probably benign
IGL01610:Phf20	APN	2	156302889	nonsense	probably null
IGL01845:Phf20	APN	2	156276657	nonsense	probably null
IGL02364:Phf20	APN	2	156294097	missense	possibly damaging	0.80
IGL02692:Phf20	APN	2	156298578	missense	probably damaging	1.00
IGL03039:Phf20	APN	2	156298541	missense	probably damaging	1.00
R0016:Phf20	UTSW	2	156267194	nonsense	probably null
R0189:Phf20	UTSW	2	156303141	missense	probably benign	0.02
R1532:Phf20	UTSW	2	156303049	missense	possibly damaging	0.89
R1572:Phf20	UTSW	2	156287834	missense	probably benign	0.17
R2007:Phf20	UTSW	2	156287954	missense	probably benign	0.00
R2191:Phf20	UTSW	2	156276654	missense	probably benign
R3011:Phf20	UTSW	2	156288026	missense	probably benign	0.32
R3024:Phf20	UTSW	2	156287867	missense	probably damaging	0.96
R4242:Phf20	UTSW	2	156307454	unclassified	probably benign
R5053:Phf20	UTSW	2	156273862	missense	probably benign	0.00
R5089:Phf20	UTSW	2	156302862	missense	probably benign
R5382:Phf20	UTSW	2	156267497	missense	probably damaging	1.00
R5649:Phf20	UTSW	2	156251768	splice site	probably null
R5707:Phf20	UTSW	2	156296771	splice site	probably null
R5751:Phf20	UTSW	2	156267341	missense	probably benign	0.01
R5805:Phf20	UTSW	2	156307294	missense	probably damaging	0.99
R5988:Phf20	UTSW	2	156307330	missense	probably damaging	1.00
R6179:Phf20	UTSW	2	156298653	missense	probably damaging	1.00
R6243:Phf20	UTSW	2	156223400	missense	probably benign	0.16
R6351:Phf20	UTSW	2	156294210	missense	possibly damaging	0.91
R6584:Phf20	UTSW	2	156294123	missense	probably damaging	0.99
R7248:Phf20	UTSW	2	156293411	splice site	probably null
R7329:Phf20	UTSW	2	156304632	missense	probably damaging	0.96
R7387:Phf20	UTSW	2	156294240	missense	probably damaging	1.00
R7528:Phf20	UTSW	2	156303008	nonsense	probably null
R7603:Phf20	UTSW	2	156302851	missense	probably benign
R7698:Phf20	UTSW	2	156294138	missense	probably damaging	1.00
R7916:Phf20	UTSW	2	156287938	missense	probably damaging	0.96
R7968:Phf20	UTSW	2	156293544	missense	probably benign	0.00
R8415:Phf20	UTSW	2	156287993	missense	probably benign	0.07
R8843:Phf20	UTSW	2	156302923	missense	probably benign
R8849:Phf20	UTSW	2	156276520	missense	probably damaging	0.97
R9168:Phf20	UTSW	2	156267314	missense	probably benign	0.01
R9180:Phf20	UTSW	2	156272617	missense	probably benign	0.31
R9286:Phf20	UTSW	2	156292550	missense	probably damaging	0.98
R9297:Phf20	UTSW	2	156273770	missense	probably benign
R9318:Phf20	UTSW	2	156273770	missense	probably benign
R9414:Phf20	UTSW	2	156294247	missense	probably benign	0.38
RF011:Phf20	UTSW	2	156304620	critical splice acceptor site	probably benign
RF011:Phf20	UTSW	2	156304621	critical splice acceptor site	probably benign
RF028:Phf20	UTSW	2	156304623	critical splice acceptor site	probably benign
Z1190:Phf20	UTSW	2	156288059	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCATGTCTTCTCAGTCTGTGAATTC -3'
(R):5'- AGAATCCTTGGCACTGGGTG -3'

Sequencing Primer
(F):5'- GTAAGCTCTCTCTAGCCCAGACTATG -3'
(R):5'- ATCCTTGGCACTGGGTGACTTG -3'

Posted On

2018-04-27