Mutagenetix > Incidental Mutation

Incidental Mutation 'R6351:Phf20'

514217

Institutional Source

Beutler Lab

Gene Symbol

Phf20

Ensembl Gene

ENSMUSG00000038116

Gene Name

PHD finger protein 20

Synonyms

6820402O20Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R6351 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

156038567-156151873 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 156136130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 650 (R650C)

Ref Sequence

ENSEMBL: ENSMUSP00000043138 (fasta)

Gene Model

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

AlphaFold

Q8BLG0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037401
AA Change: R650C

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000043138
Gene: ENSMUSG00000038116
AA Change: R650C

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: ENSMUST00000122814

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132352

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147234

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152617

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

99% (95/96)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1a	C	A	9: 119,170,630 (GRCm39)	S17*	probably null	Het
Adamts16	T	A	13: 70,984,322 (GRCm39)	S114C	probably damaging	Het
Agpat5	T	C	8: 18,896,724 (GRCm39)	V50A	probably benign	Het
Agrn	T	C	4: 156,263,891 (GRCm39)	N124S	probably benign	Het
Ak8	T	C	2: 28,625,638 (GRCm39)	I227T	probably benign	Het
Akap6	A	G	12: 53,188,808 (GRCm39)	E2074G	probably damaging	Het
Apc	T	A	18: 34,445,265 (GRCm39)	S702R	probably damaging	Het
Ascc3	T	C	10: 50,596,769 (GRCm39)	I1233T	probably damaging	Het
Asphd2	A	T	5: 112,533,698 (GRCm39)	F318I	probably damaging	Het
Bltp1	G	A	3: 36,962,377 (GRCm39)	A493T	probably damaging	Het
Bnc2	T	C	4: 84,211,380 (GRCm39)	T397A	probably benign	Het
Bpifb4	C	T	2: 153,799,054 (GRCm39)	T528I	probably damaging	Het
Brinp3	A	G	1: 146,777,323 (GRCm39)	E590G	probably damaging	Het
Ccdc149	A	G	5: 52,542,477 (GRCm39)	S372P	probably benign	Het
Cdhr2	A	G	13: 54,874,589 (GRCm39)	H887R	probably benign	Het
Clcn6	C	T	4: 148,101,957 (GRCm39)	V376I	probably benign	Het
Cntln	T	G	4: 85,033,591 (GRCm39)	C1305W	probably damaging	Het
Cspg4	A	G	9: 56,799,928 (GRCm39)	D1564G	probably benign	Het
Cux1	A	T	5: 136,338,646 (GRCm39)	S582T	probably damaging	Het
Cwh43	G	A	5: 73,569,248 (GRCm39)	A97T	possibly damaging	Het
Dsc1	A	T	18: 20,219,826 (GRCm39)	F781L	probably damaging	Het
Dsc3	G	T	18: 20,099,348 (GRCm39)	H723N	probably benign	Het
Ear10	A	T	14: 44,160,512 (GRCm39)	V105D	probably damaging	Het
Ecel1	A	G	1: 87,077,231 (GRCm39)	V659A	possibly damaging	Het
Eogt	A	T	6: 97,097,155 (GRCm39)	F316I	probably damaging	Het
Etaa1	T	C	11: 17,897,188 (GRCm39)	N310D	possibly damaging	Het
Exoc3l2	G	A	7: 19,203,633 (GRCm39)	R75Q	possibly damaging	Het
Fam186a	A	C	15: 99,839,623 (GRCm39)	L2207R	probably damaging	Het
Fam187b	T	C	7: 30,677,024 (GRCm39)	Y178H	probably damaging	Het
Fat1	A	T	8: 45,486,532 (GRCm39)	Q3362L	probably damaging	Het
Fat3	A	T	9: 15,849,694 (GRCm39)	S3903T	probably damaging	Het
Fsip2	G	A	2: 82,823,028 (GRCm39)	V6254I	possibly damaging	Het
Gabra5	T	C	7: 57,063,528 (GRCm39)	T299A	probably damaging	Het
Gbp11	T	C	5: 105,475,464 (GRCm39)	T295A	probably benign	Het
Glcci1	C	T	6: 8,573,203 (GRCm39)	Q44*	probably null	Het
Gpc5	A	T	14: 115,636,612 (GRCm39)	T432S	probably benign	Het
Grhl1	G	A	12: 24,634,857 (GRCm39)	E228K	probably damaging	Het
Hyal5	T	C	6: 24,891,708 (GRCm39)		probably null	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ints9	A	G	14: 65,230,456 (GRCm39)	I128V	probably damaging	Het
Kcnt2	A	T	1: 140,302,850 (GRCm39)	N130I	probably damaging	Het
Krba1	T	C	6: 48,391,062 (GRCm39)	V717A	probably benign	Het
Lrp12	T	A	15: 39,741,584 (GRCm39)	D377V	probably damaging	Het
Magi1	G	T	6: 93,920,210 (GRCm39)	D135E	possibly damaging	Het
Map10	T	A	8: 126,397,984 (GRCm39)	L459Q	probably damaging	Het
Mitf	A	G	6: 97,980,873 (GRCm39)	D238G	possibly damaging	Het
Ms4a19	C	T	19: 11,119,765 (GRCm39)	G14D	probably damaging	Het
Mylk	G	T	16: 34,742,341 (GRCm39)	R951L	probably benign	Het
Nacad	T	A	11: 6,549,235 (GRCm39)	D1272V	probably damaging	Het
Nacad	T	A	11: 6,550,165 (GRCm39)	K1009*	probably null	Het
Ncor1	T	C	11: 62,264,124 (GRCm39)	D786G	probably benign	Het
Oas2	G	A	5: 120,886,603 (GRCm39)	R188C	probably benign	Het
Odf2l	A	G	3: 144,841,479 (GRCm39)	I300V	probably benign	Het
Or1j10	T	A	2: 36,267,208 (GRCm39)	V140D	possibly damaging	Het
Or51b17	A	T	7: 103,542,342 (GRCm39)	L200*	probably null	Het
Or51v8	A	G	7: 103,320,163 (GRCm39)	I25T	possibly damaging	Het
Or5p60	A	G	7: 107,723,637 (GRCm39)	S278P	probably damaging	Het
Or9i1	A	G	19: 13,839,186 (GRCm39)	T10A	probably benign	Het
Pes1	T	A	11: 3,928,865 (GRCm39)	D574E	probably benign	Het
Pias4	G	A	10: 80,993,098 (GRCm39)	T248I	probably damaging	Het
Pkhd1	T	C	1: 20,282,175 (GRCm39)	T2889A	probably benign	Het
Plcxd1	C	A	5: 110,250,033 (GRCm39)		probably null	Het
Plekha7	A	G	7: 115,776,133 (GRCm39)	F194L	probably damaging	Het
Plxnb2	T	C	15: 89,041,973 (GRCm39)	N1642S	possibly damaging	Het
Pnpla7	A	T	2: 24,901,576 (GRCm39)	D534V	probably damaging	Het
Ppp2r5c	A	T	12: 110,521,313 (GRCm39)	S279C	probably damaging	Het
Ptprq	T	A	10: 107,544,529 (GRCm39)	T334S	probably damaging	Het
Rab39	T	C	9: 53,597,821 (GRCm39)	D148G	probably benign	Het
Reep3	A	T	10: 66,870,432 (GRCm39)	F121L	probably benign	Het
Reln	G	T	5: 22,106,661 (GRCm39)	C3236*	probably null	Het
Rrp8	C	T	7: 105,384,016 (GRCm39)	C162Y	probably damaging	Het
Scrib	C	A	15: 75,936,835 (GRCm39)	Q399H	possibly damaging	Het
Sertad1	T	A	7: 27,189,224 (GRCm39)	Y182N	possibly damaging	Het
Sfrp5	A	G	19: 42,190,263 (GRCm39)	V63A	possibly damaging	Het
Shoc1	T	C	4: 59,069,317 (GRCm39)	D703G	probably benign	Het
Slc46a1	T	C	11: 78,357,985 (GRCm39)	M346T	probably benign	Het
Sycp2	A	G	2: 178,005,209 (GRCm39)	L886S	probably damaging	Het
Teddm1b	A	T	1: 153,750,505 (GRCm39)	I105F	probably benign	Het
Thumpd1	A	T	7: 119,319,828 (GRCm39)	I46N	possibly damaging	Het
Tmod4	A	G	3: 95,035,164 (GRCm39)	N223S	probably damaging	Het
Tnfrsf10b	G	C	14: 70,010,850 (GRCm39)	C85S	probably damaging	Het
Tox	T	C	4: 6,697,439 (GRCm39)	T455A	probably benign	Het
Tox	T	C	4: 6,741,536 (GRCm39)	Q148R	probably benign	Het
Trp53bp1	A	C	2: 121,100,426 (GRCm39)	S109R	probably damaging	Het
Tshz2	A	T	2: 169,726,888 (GRCm39)	T26S	probably benign	Het
Tubb4a	T	A	17: 57,388,016 (GRCm39)	N337Y	probably damaging	Het
Tubb6	T	A	18: 67,534,458 (GRCm39)	V119E	probably damaging	Het
Unk	C	T	11: 115,945,772 (GRCm39)	T481I	probably benign	Het
Vmn2r112	C	T	17: 22,820,259 (GRCm39)	T44I	probably benign	Het
Vstm5	G	A	9: 15,168,829 (GRCm39)	G131D	probably damaging	Het
Wscd1	T	C	11: 71,650,709 (GRCm39)	L12P	probably damaging	Het
Zfp369	T	A	13: 65,444,044 (GRCm39)	S396T	possibly damaging	Het
Zfp932	T	A	5: 110,157,209 (GRCm39)	C302*	probably null	Het
Zfp972	A	T	2: 177,548,728 (GRCm39)		probably null	Het
Zfyve21	C	A	12: 111,794,028 (GRCm39)	A212E	probably benign	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
R2007:Phf20	UTSW	2	156,129,874 (GRCm39)	missense	probably benign	0.00
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
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'- TCTAGTTTCCAGGCCTGTGG -3'
(R):5'- GCAAGCTCAGTCTACCATTGTTAG -3'

Sequencing Primer
(F):5'- TCCAGGCCTGTGGAAGTTC -3'
(R):5'- TGTTAGTACTACACACACAGGGCTG -3'

Posted On

2018-04-27