Mutagenetix > Incidental Mutation

Incidental Mutation 'R2007:Phf20'

222456

Institutional Source

Beutler Lab

Gene Symbol

Phf20

Ensembl Gene

ENSMUSG00000038116

Gene Name

PHD finger protein 20

Synonyms

6820402O20Rik

MMRRC Submission

040016-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R2007 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

156038567-156151873 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 156129874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 482 (M482T)

Ref Sequence

ENSEMBL: ENSMUSP00000043138 (fasta)

Gene Model

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

AlphaFold

Q8BLG0

Predicted Effect

probably benign
Transcript: ENSMUST00000037401
AA Change: M482T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000043138
Gene: ENSMUSG00000038116
AA Change: M482T

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: ENSMUST00000147234

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152617

Meta Mutation Damage Score

0.0708

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

96% (66/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,519,855 (GRCm39)	N1387K	probably benign	Het
Abca13	T	C	11: 9,141,987 (GRCm39)	F8L	probably benign	Het
Abcg5	G	T	17: 84,977,348 (GRCm39)	L270M	probably damaging	Het
Acad10	A	G	5: 121,772,814 (GRCm39)	L489S	probably damaging	Het
Acsf2	G	A	11: 94,462,466 (GRCm39)	T183I	possibly damaging	Het
Adamts7	A	T	9: 90,059,909 (GRCm39)	E282V	probably damaging	Het
Adcy4	C	T	14: 56,015,770 (GRCm39)	G440R	possibly damaging	Het
AI429214	G	A	8: 37,460,923 (GRCm39)	V24I	probably benign	Het
Angptl3	T	C	4: 98,925,634 (GRCm39)	I320T	probably damaging	Het
Apoa5	A	T	9: 46,181,665 (GRCm39)	Q247L	possibly damaging	Het
Astn1	T	G	1: 158,436,875 (GRCm39)	V811G	probably damaging	Het
Bard1	C	T	1: 71,070,562 (GRCm39)	V641I	probably benign	Het
Calb2	T	C	8: 110,894,702 (GRCm39)	E23G	probably benign	Het
Cdkl4	A	G	17: 80,863,730 (GRCm39)		probably benign	Het
Cep85l	A	G	10: 53,154,171 (GRCm39)		probably benign	Het
Cfap91	T	C	16: 38,118,616 (GRCm39)	I728V	probably benign	Het
Chd1	G	T	17: 15,951,268 (GRCm39)	G281V	probably damaging	Het
Col17a1	C	T	19: 47,656,141 (GRCm39)	G586E	probably damaging	Het
Cpne3	T	A	4: 19,553,833 (GRCm39)	D66V	probably damaging	Het
Csde1	A	T	3: 102,952,107 (GRCm39)	I204L	probably damaging	Het
Dchs1	A	T	7: 105,404,532 (GRCm39)	V2670E	probably damaging	Het
Ddx10	A	G	9: 53,124,578 (GRCm39)	V428A	probably benign	Het
Dgkh	T	A	14: 78,840,489 (GRCm39)	D530V	probably benign	Het
Dis3l	A	T	9: 64,215,558 (GRCm39)		probably null	Het
Dst	T	G	1: 34,265,093 (GRCm39)		probably benign	Het
Eml6	C	T	11: 29,798,814 (GRCm39)		probably null	Het
En1	A	T	1: 120,531,133 (GRCm39)	E124D	probably benign	Het
Exo1	G	A	1: 175,736,096 (GRCm39)	E827K	probably damaging	Het
Fktn	T	C	4: 53,735,099 (GRCm39)	F246L	possibly damaging	Het
Fndc1	G	A	17: 7,997,580 (GRCm39)		probably benign	Het
Foxp2	G	A	6: 15,396,818 (GRCm39)	C381Y	probably damaging	Het
Galnt6	A	T	15: 100,595,047 (GRCm39)	Y485N	probably damaging	Het
Gemin4	G	A	11: 76,103,444 (GRCm39)	A439V	possibly damaging	Het
Gpatch8	A	G	11: 102,391,657 (GRCm39)	I155T	unknown	Het
Hmcn2	A	G	2: 31,328,267 (GRCm39)	D4316G	possibly damaging	Het
Hnrnpr	T	A	4: 136,046,824 (GRCm39)		probably benign	Het
Hpx	G	A	7: 105,244,781 (GRCm39)	R135C	probably damaging	Het
Khdrbs2	T	G	1: 32,559,629 (GRCm39)	E151A	probably benign	Het
Krt6b	A	T	15: 101,586,562 (GRCm39)	L309H	probably damaging	Het
Lce1c	G	T	3: 92,587,765 (GRCm39)	C64F	unknown	Het
Marchf6	C	T	15: 31,462,087 (GRCm39)		probably null	Het
Myt1	C	A	2: 181,437,552 (GRCm39)	R88S	probably benign	Het
Nemp1	A	G	10: 127,529,446 (GRCm39)	S194G	probably benign	Het
Nphp4	A	G	4: 152,639,111 (GRCm39)	K914R	probably damaging	Het
Or3a1	T	A	11: 74,225,212 (GRCm39)	T282S	possibly damaging	Het
Osbp	T	C	19: 11,951,265 (GRCm39)	M270T	probably benign	Het
Parg	T	C	14: 31,932,531 (GRCm39)	M457T	possibly damaging	Het
Pik3c2a	G	A	7: 115,941,472 (GRCm39)	T1598I	probably damaging	Het
Pkd1	T	C	17: 24,798,759 (GRCm39)	M2689T	probably damaging	Het
Plxnd1	A	T	6: 115,944,216 (GRCm39)	V1091E	probably damaging	Het
Ptcd2	A	T	13: 99,456,744 (GRCm39)	L360Q	probably damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Serpinc1	A	T	1: 160,821,110 (GRCm39)	T65S	probably benign	Het
Sipa1l2	G	A	8: 126,166,176 (GRCm39)	T1486I	probably damaging	Het
Snrnp200	T	C	2: 127,068,968 (GRCm39)	L949P	probably damaging	Het
Ssc5d	T	G	7: 4,931,628 (GRCm39)	C278W	probably damaging	Het
Tbc1d14	T	G	5: 36,728,718 (GRCm39)	H216P	possibly damaging	Het
Tmem183a	A	G	1: 134,277,861 (GRCm39)	F301S	probably damaging	Het
Tmem233	A	C	5: 116,189,496 (GRCm39)	N94K	possibly damaging	Het
Tmprss13	A	G	9: 45,243,843 (GRCm39)	D193G	probably damaging	Het
Tprkb	T	C	6: 85,910,030 (GRCm39)		probably benign	Het
Tram1l1	A	G	3: 124,115,488 (GRCm39)	H216R	possibly damaging	Het
Ttn	A	G	2: 76,564,484 (GRCm39)	V28551A	probably damaging	Het
Ubtfl1	A	G	9: 18,320,547 (GRCm39)	N25S	possibly damaging	Het
Unc80	C	A	1: 66,542,935 (GRCm39)	N396K	probably damaging	Het
Vmn1r171	T	C	7: 23,332,012 (GRCm39)	L79P	probably damaging	Het
Vmn2r115	G	T	17: 23,566,927 (GRCm39)	V480F	possibly damaging	Het
Xpo4	T	C	14: 57,824,101 (GRCm39)	I995V	probably null	Het

Other mutations in Phf20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00928:Phf20	APN	2	156,146,736 (GRCm39)	critical splice donor site	probably null
IGL01071:Phf20	APN	2	156,136,008 (GRCm39)	splice site	probably null
IGL01125:Phf20	APN	2	156,145,104 (GRCm39)	splice site	probably null
IGL01608:Phf20	APN	2	156,118,516 (GRCm39)	missense	probably benign
IGL01610:Phf20	APN	2	156,144,809 (GRCm39)	nonsense	probably null
IGL01845:Phf20	APN	2	156,118,577 (GRCm39)	nonsense	probably null
IGL02364:Phf20	APN	2	156,136,017 (GRCm39)	missense	possibly damaging	0.80
IGL02692:Phf20	APN	2	156,140,498 (GRCm39)	missense	probably damaging	1.00
IGL03039:Phf20	APN	2	156,140,461 (GRCm39)	missense	probably damaging	1.00
R0016:Phf20	UTSW	2	156,109,114 (GRCm39)	nonsense	probably null
R0189:Phf20	UTSW	2	156,145,061 (GRCm39)	missense	probably benign	0.02
R1532:Phf20	UTSW	2	156,144,969 (GRCm39)	missense	possibly damaging	0.89
R1572:Phf20	UTSW	2	156,129,754 (GRCm39)	missense	probably benign	0.17
R2191:Phf20	UTSW	2	156,118,574 (GRCm39)	missense	probably benign
R3011:Phf20	UTSW	2	156,129,946 (GRCm39)	missense	probably benign	0.32
R3024:Phf20	UTSW	2	156,129,787 (GRCm39)	missense	probably damaging	0.96
R4242:Phf20	UTSW	2	156,149,374 (GRCm39)	unclassified	probably benign
R5053:Phf20	UTSW	2	156,115,782 (GRCm39)	missense	probably benign	0.00
R5089:Phf20	UTSW	2	156,144,782 (GRCm39)	missense	probably benign
R5382:Phf20	UTSW	2	156,109,417 (GRCm39)	missense	probably damaging	1.00
R5649:Phf20	UTSW	2	156,093,688 (GRCm39)	splice site	probably null
R5707:Phf20	UTSW	2	156,138,691 (GRCm39)	splice site	probably null
R5751:Phf20	UTSW	2	156,109,261 (GRCm39)	missense	probably benign	0.01
R5805:Phf20	UTSW	2	156,149,214 (GRCm39)	missense	probably damaging	0.99
R5988:Phf20	UTSW	2	156,149,250 (GRCm39)	missense	probably damaging	1.00
R6179:Phf20	UTSW	2	156,140,573 (GRCm39)	missense	probably damaging	1.00
R6243:Phf20	UTSW	2	156,065,320 (GRCm39)	missense	probably benign	0.16
R6338:Phf20	UTSW	2	156,115,606 (GRCm39)	missense	possibly damaging	0.93
R6351:Phf20	UTSW	2	156,136,130 (GRCm39)	missense	possibly damaging	0.91
R6584:Phf20	UTSW	2	156,136,043 (GRCm39)	missense	probably damaging	0.99
R7248:Phf20	UTSW	2	156,135,331 (GRCm39)	splice site	probably null
R7329:Phf20	UTSW	2	156,146,552 (GRCm39)	missense	probably damaging	0.96
R7387:Phf20	UTSW	2	156,136,160 (GRCm39)	missense	probably damaging	1.00
R7528:Phf20	UTSW	2	156,144,928 (GRCm39)	nonsense	probably null
R7603:Phf20	UTSW	2	156,144,771 (GRCm39)	missense	probably benign
R7698:Phf20	UTSW	2	156,136,058 (GRCm39)	missense	probably damaging	1.00
R7916:Phf20	UTSW	2	156,129,858 (GRCm39)	missense	probably damaging	0.96
R7968:Phf20	UTSW	2	156,135,464 (GRCm39)	missense	probably benign	0.00
R8415:Phf20	UTSW	2	156,129,913 (GRCm39)	missense	probably benign	0.07
R8843:Phf20	UTSW	2	156,144,843 (GRCm39)	missense	probably benign
R8849:Phf20	UTSW	2	156,118,440 (GRCm39)	missense	probably damaging	0.97
R9168:Phf20	UTSW	2	156,109,234 (GRCm39)	missense	probably benign	0.01
R9180:Phf20	UTSW	2	156,114,537 (GRCm39)	missense	probably benign	0.31
R9286:Phf20	UTSW	2	156,134,470 (GRCm39)	missense	probably damaging	0.98
R9297:Phf20	UTSW	2	156,115,690 (GRCm39)	missense	probably benign
R9318:Phf20	UTSW	2	156,115,690 (GRCm39)	missense	probably benign
R9414:Phf20	UTSW	2	156,136,167 (GRCm39)	missense	probably benign	0.38
RF011:Phf20	UTSW	2	156,146,541 (GRCm39)	critical splice acceptor site	probably benign
RF011:Phf20	UTSW	2	156,146,540 (GRCm39)	critical splice acceptor site	probably benign
RF028:Phf20	UTSW	2	156,146,543 (GRCm39)	critical splice acceptor site	probably benign
Z1190:Phf20	UTSW	2	156,129,979 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTGAACCTGCCATTCTACCAC -3'
(R):5'- TAAGAAATGCCAGGGCCCTC -3'

Sequencing Primer
(F):5'- AGAGCTCCTCACGTTCGTG -3'
(R):5'- AGGGCCCTCCTAGGACATTC -3'

Posted On

2014-08-25