Mutagenetix > Incidental Mutations

Incidental Mutation 'R7603:Phf20'

588104

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: 0.872) question?

Stock #

R7603 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

156196466-156309952 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 156302851 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 793 (A793V)

Ref Sequence

ENSEMBL: ENSMUSP00000043138 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000037401
AA Change: A793V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043138
Gene: ENSMUSG00000038116
AA Change: A793V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (47/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,566,191	T709A	probably benign	Het
Abca6	T	C	11: 110,180,258	K1536E	possibly damaging	Het
Abhd16a	T	A	17: 35,101,960		probably null	Het
Actrt3	C	T	3: 30,598,547	A133T	probably benign	Het
Adcy10	C	T	1: 165,564,237	R1329W	probably damaging	Het
Apol7b	T	C	15: 77,423,456	M280V	possibly damaging	Het
Canx	A	T	11: 50,311,628	D50E	probably benign	Het
Csmd1	A	T	8: 16,288,682	D470E	probably damaging	Het
Cyp2c23	C	T	19: 44,014,930	D269N	probably damaging	Het
Ddah1	T	C	3: 145,759,019	V53A	probably benign	Het
Epha7	C	T	4: 28,871,937	S422L	probably benign	Het
Fastkd5	A	G	2: 130,615,041	V543A	possibly damaging	Het
Fggy	G	A	4: 95,769,506	G295R	probably damaging	Het
Frs2	T	C	10: 117,074,063	T465A	probably benign	Het
Glipr1	A	T	10: 111,988,832	N156K	probably benign	Het
Gnpnat1	C	T	14: 45,384,617	V40I	probably benign	Het
H2-Q7	T	C	17: 35,439,963	L130P	probably damaging	Het
Herc1	T	A	9: 66,451,383	L86*	probably null	Het
Hspg2	T	C	4: 137,548,368	L2778P	probably damaging	Het
Hspg2	T	A	4: 137,557,192	I3487N	possibly damaging	Het
Htra4	T	G	8: 25,025,700	I441L	probably benign	Het
Ints7	A	T	1: 191,596,224	H203L	probably damaging	Het
Lama2	T	C	10: 27,266,680	T601A	possibly damaging	Het
Lin7b	T	C	7: 45,368,432		probably benign	Het
Lmbr1l	G	A	15: 98,908,691	Q280*	probably null	Het
Lpin3	G	T	2: 160,903,754		probably null	Het
Map1lc3b	A	T	8: 121,593,529	H27L	possibly damaging	Het
Mfsd14a	C	A	3: 116,633,883	V369F	probably damaging	Het
Ndufa12	C	T	10: 94,220,779	A123V	probably benign	Het
Nek9	A	G	12: 85,303,514	F929L	probably benign	Het
Nup210	A	T	6: 91,076,697	D279E	probably benign	Het
Olfr553	A	G	7: 102,614,938	V17A	probably benign	Het
Parp1	T	C	1: 180,600,212		probably null	Het
Phc3	T	C	3: 30,907,452	I944V	probably damaging	Het
Phf21a	A	C	2: 92,357,007	R540S	probably benign	Het
Pogk	A	G	1: 166,401,911	C124R	probably benign	Het
Rif1	C	T	2: 52,076,175	S93L	probably damaging	Het
Sele	A	G	1: 164,049,515	E120G	probably damaging	Het
Slc4a1ap	T	C	5: 31,546,195	L49P		Het
Snap47	T	C	11: 59,428,547	D255G	probably damaging	Het
Tcstv3	T	C	13: 120,317,610	V15A	probably damaging	Het
Tmcc1	A	T	6: 116,043,131	Y453*	probably null	Het
Tpsg1	G	T	17: 25,373,210	G86V	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Usp20	T	A	2: 31,011,474	V459E	probably damaging	Het
Vmn1r202	A	T	13: 22,501,620	L209Q	probably damaging	Het
Vps13b	T	C	15: 35,576,439	S998P	probably 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
R6338:Phf20	UTSW	2	156273686	missense	possibly damaging	0.93
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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTGGCCTCCTAAGAGACTGAAG -3'
(R):5'- GCTCCACAGCGGGATAATAG -3'

Sequencing Primer
(F):5'- AAGGTTCACATCCCAGTGTG -3'
(R):5'- GGATAATAGGCGCGAGGTTTC -3'

Posted On

2019-10-24