Mutagenetix > Incidental Mutation

Incidental Mutation 'R2191:Phf20'

238080

Institutional Source

Beutler Lab

Gene Symbol

Phf20

Ensembl Gene

ENSMUSG00000038116

Gene Name

PHD finger protein 20

Synonyms

MMRRC Submission

040193-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R2191 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

156196466-156309952 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 156276654 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 426 (V426A)

Ref Sequence

ENSEMBL: ENSMUSP00000043138 (fasta)

Gene Model

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

AlphaFold

Q8BLG0

Predicted Effect

probably benign
Transcript: ENSMUST00000037401
AA Change: V426A

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

SMART Domains

Protein: ENSMUSP00000043138
Gene: ENSMUSG00000038116
AA Change: V426A

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: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	G	6: 23,078,866	S716P	possibly damaging	Het
Abcb5	A	C	12: 118,867,956	N1220K	probably damaging	Het
Acsl3	A	T	1: 78,699,140	E479D	probably damaging	Het
Actn1	A	T	12: 80,171,802	L736*	probably null	Het
Adcyap1	A	G	17: 93,200,026	S5G	possibly damaging	Het
Adgrv1	T	C	13: 81,566,290	N958S	possibly damaging	Het
Armc1	T	A	3: 19,134,061	N274Y	probably damaging	Het
Atp9b	G	A	18: 80,753,051	R926W	probably damaging	Het
Cacna1e	G	T	1: 154,443,845	Q1370K	probably damaging	Het
Ccdc129	A	T	6: 55,967,719	Q475L	probably benign	Het
Cdip1	C	T	16: 4,770,063	S12N	probably benign	Het
Chrna3	T	A	9: 55,016,045	I160F	probably damaging	Het
Cnot1	A	G	8: 95,761,426	I534T	probably damaging	Het
Cr2	T	A	1: 195,163,381	I465F	possibly damaging	Het
Daw1	A	G	1: 83,192,663	D232G	probably benign	Het
Dcaf6	T	C	1: 165,422,864	T144A	probably benign	Het
Dhx30	A	T	9: 110,086,118		probably null	Het
Dnah7a	A	G	1: 53,605,875	S1001P	possibly damaging	Het
Dnajb9	T	C	12: 44,207,073	T184A	probably benign	Het
Dsg1b	T	C	18: 20,409,618	*1061Q	probably null	Het
Dvl1	G	A	4: 155,847,816	V28I	possibly damaging	Het
Edem3	T	A	1: 151,796,883	V450D	probably damaging	Het
Ephb6	G	T	6: 41,616,085	R419L	possibly damaging	Het
Fbxo10	G	C	4: 45,044,811	P608R	probably damaging	Het
Flrt1	A	G	19: 7,095,829	I451T	probably damaging	Het
Gm6309	A	T	5: 146,168,871	V161E	possibly damaging	Het
Gm884	A	C	11: 103,618,967		probably benign	Het
Heatr5b	A	G	17: 78,773,677	L1382P	probably damaging	Het
Igsf1	C	A	X: 49,783,150	L714F	probably damaging	Het
Inpp4b	C	T	8: 81,997,302	P488S	probably damaging	Het
Ints6l	T	A	X: 56,504,750	H678Q	probably benign	Het
Kdm2a	A	T	19: 4,356,931		probably null	Het
Khdrbs3	G	T	15: 69,092,960	V249F	probably damaging	Het
Kmt2d	A	T	15: 98,861,049		probably null	Het
Laptm4a	T	C	12: 8,922,296		probably null	Het
Lrp2bp	C	T	8: 46,013,169	T105I	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Mtmr3	A	T	11: 4,499,032	W244R	probably damaging	Het
Myo18a	A	G	11: 77,818,615	D138G	probably damaging	Het
Nlrp9b	A	T	7: 20,023,662	I275L	probably benign	Het
Nol6	C	T	4: 41,118,720	R719H	probably benign	Het
Olfr191	A	T	16: 59,085,675	D269E	probably benign	Het
Olfr441	T	C	6: 43,116,065	S108P	probably benign	Het
Olfr937	A	T	9: 39,060,405	I87K	probably benign	Het
Omt2b	G	A	9: 78,328,175		probably benign	Het
Pclo	C	T	5: 14,713,848	L4112F	unknown	Het
Pglyrp2	T	C	17: 32,415,957	N477S	probably benign	Het
Pla2g4e	CTT	CTTT	2: 120,191,199		probably null	Het
Plagl1	A	C	10: 13,128,941		probably benign	Het
Ppip5k2	A	G	1: 97,744,110	V479A	probably damaging	Het
Prkdc	A	C	16: 15,698,824	T1021P	probably damaging	Het
Rdh7	C	T	10: 127,888,598	V6I	probably benign	Het
Rictor	A	T	15: 6,759,614	H237L	probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,579,907		probably benign	Het
Rttn	T	C	18: 89,095,648		probably null	Het
Setd5	C	T	6: 113,111,429	Q173*	probably null	Het
Sipa1l1	T	A	12: 82,396,691	Y918*	probably null	Het
Slc13a1	T	G	6: 24,134,397	E162D	possibly damaging	Het
Slc39a9	G	A	12: 80,662,527	A52T	probably damaging	Het
Srebf1	T	C	11: 60,220,539	D2G	probably damaging	Het
Stab1	A	T	14: 31,142,800	M66K	probably benign	Het
Stab1	T	C	14: 31,159,270	N601S	probably damaging	Het
Sv2b	C	T	7: 75,124,088	G545D	probably damaging	Het
Syt5	G	A	7: 4,543,089	Q101*	probably null	Het
Thada	A	G	17: 84,446,521	F341L	probably benign	Het
Tln2	T	G	9: 67,355,221	I585L	probably damaging	Het
Tmem67	C	G	4: 12,069,413		probably null	Het
Tonsl	G	T	15: 76,632,680	L917M	probably damaging	Het
Ttk	A	G	9: 83,862,183	K519E	probably damaging	Het
Ttn	T	C	2: 76,707,134	T34817A	probably benign	Het
Ubr1	A	T	2: 120,926,047	S700T	probably damaging	Het
Unc13b	C	A	4: 43,245,566	C1312*	probably null	Het
Usp36	A	G	11: 118,285,023	L104P	possibly damaging	Het
Vmn1r216	T	C	13: 23,099,233	F29L	probably benign	Het
Vmn1r225	T	C	17: 20,502,885	I196T	probably damaging	Het
Vmn1r50	T	C	6: 90,108,139	F289L	probably benign	Het
Ythdf3	T	C	3: 16,203,211		probably benign	Het
Zfp507	T	A	7: 35,794,843	K258N	probably damaging	Het
Zscan5b	A	G	7: 6,231,443	H156R	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
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
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'- TCCTCTAGGTCAGTTGAAGTCTCC -3'
(R):5'- GGTCACAAACTACCTGGAGG -3'

Sequencing Primer
(F):5'- CAGTTGAAGTCTCCATTGGAAGC -3'
(R):5'- CTCACTGTGATACCCTGGAAATGAG -3'

Posted On

2014-10-02