Mutagenetix > Incidental Mutation

Incidental Mutation 'R6808:Phf20l1'

533667

Institutional Source

Beutler Lab

Gene Symbol

Phf20l1

Ensembl Gene

ENSMUSG00000072501

Gene Name

PHD finger protein 20-like 1

Synonyms

E130113K22Rik, CGI-72

MMRRC Submission

044921-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.211) question?

Stock #

R6808 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66449409-66519825 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 66502762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 714 (L714R)

Ref Sequence

ENSEMBL: ENSMUSP00000035682 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048188] [ENSMUST00000229160] [ENSMUST00000229576] [ENSMUST00000230948]

AlphaFold

Q8CCJ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000048188
AA Change: L714R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000035682
Gene: ENSMUSG00000072501
AA Change: L714R

Domain	Start	End	E-Value	Type
TUDOR	11	71	7.67e0	SMART
Agenet	11	73	3.53e0	SMART
Agenet	85	141	4.54e-1	SMART
TUDOR	85	141	5.75e-8	SMART
Pfam:DUF3776	210	319	1.3e-31	PFAM
Pfam:PHD20L1_u1	318	413	4.7e-47	PFAM
low complexity region	443	453	N/A	INTRINSIC
low complexity region	530	543	N/A	INTRINSIC
low complexity region	547	585	N/A	INTRINSIC
low complexity region	598	608	N/A	INTRINSIC
low complexity region	642	658	N/A	INTRINSIC
PHD	683	727	8.45e-3	SMART
low complexity region	879	887	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000229160
AA Change: L713R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000229576

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230948
AA Change: L687R

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

Meta Mutation Damage Score

0.1483

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl9	A	T	17: 33,652,098 (GRCm39)	I53F	probably damaging	Het
Apol7b	T	A	15: 77,308,873 (GRCm39)	D75V	probably damaging	Het
Brd8	C	T	18: 34,741,528 (GRCm39)	A387T	probably damaging	Het
Cacybp	T	C	1: 160,036,169 (GRCm39)		probably null	Het
Calcoco1	T	C	15: 102,618,875 (GRCm39)	K444E	probably damaging	Het
Cers2	G	A	3: 95,228,320 (GRCm39)	R120H	probably benign	Het
Chd4	T	A	6: 125,099,086 (GRCm39)	C1587S	possibly damaging	Het
Col11a1	A	T	3: 113,888,593 (GRCm39)	K286N	possibly damaging	Het
Creld2	A	G	15: 88,709,413 (GRCm39)	N308S	probably damaging	Het
Cyp2d12	T	C	15: 82,440,934 (GRCm39)	S151P	probably damaging	Het
Dlec1	A	G	9: 118,955,242 (GRCm39)	H642R	probably benign	Het
Eif6	T	C	2: 155,665,206 (GRCm39)	Y151C	probably damaging	Het
Erbb4	A	T	1: 68,079,462 (GRCm39)	M1206K	probably benign	Het
Fam178b	G	A	1: 36,639,216 (GRCm39)	T361M	probably damaging	Het
Fbxo10	A	G	4: 45,059,035 (GRCm39)	F234S	probably benign	Het
Gcc2	A	T	10: 58,094,064 (GRCm39)	E13D	probably damaging	Het
Gm19410	C	A	8: 36,239,733 (GRCm39)	A143E	probably damaging	Het
Gtf3c5	T	C	2: 28,460,499 (GRCm39)	K367E	probably damaging	Het
Ifi204	T	C	1: 173,589,269 (GRCm39)	E54G	probably benign	Het
Kalrn	A	T	16: 33,848,346 (GRCm39)	I492N	probably damaging	Het
Kifbp	T	C	10: 62,410,923 (GRCm39)	N140S	possibly damaging	Het
Map2k5	A	G	9: 63,229,528 (GRCm39)	Y168H	probably benign	Het
Mbip	A	C	12: 56,384,383 (GRCm39)		probably null	Het
Mcmdc2	C	T	1: 10,004,242 (GRCm39)	T574I	probably damaging	Het
Or10a3b	T	C	7: 108,444,747 (GRCm39)	T157A	probably benign	Het
Or52j3	T	G	7: 102,836,511 (GRCm39)	D234E	probably benign	Het
Or5w22	A	T	2: 87,363,285 (GRCm39)	M303L	probably benign	Het
Or8d2	T	A	9: 38,760,085 (GRCm39)	I225N	probably damaging	Het
Or8g33	T	C	9: 39,337,836 (GRCm39)	Y177C	probably damaging	Het
Or9s27	A	T	1: 92,516,768 (GRCm39)	R239W	probably damaging	Het
Pdzd8	A	G	19: 59,287,957 (GRCm39)	*1148Q	probably null	Het
Phactr1	T	A	13: 43,286,445 (GRCm39)	I582N	probably damaging	Het
Pramel32	T	C	4: 88,548,291 (GRCm39)	E38G	probably damaging	Het
Rcor3	T	C	1: 191,822,179 (GRCm39)	E6G	possibly damaging	Het
Skic3	T	C	13: 76,333,298 (GRCm39)	S1516P	probably damaging	Het
Sptlc2	G	A	12: 87,397,069 (GRCm39)	T239I	possibly damaging	Het
Tmc1	A	T	19: 20,772,880 (GRCm39)	V707D	probably damaging	Het
Tmem63b	T	A	17: 45,971,734 (GRCm39)	E827V	probably benign	Het
Triml1	A	G	8: 43,594,258 (GRCm39)	S58P	probably damaging	Het
Zdbf2	A	G	1: 63,347,687 (GRCm39)	H2022R	possibly damaging	Het

Other mutations in Phf20l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Phf20l1	APN	15	66,500,884 (GRCm39)	missense	probably benign	0.28
IGL00484:Phf20l1	APN	15	66,487,482 (GRCm39)	splice site	probably benign
IGL00668:Phf20l1	APN	15	66,504,698 (GRCm39)	missense	probably damaging	0.99
IGL00849:Phf20l1	APN	15	66,508,681 (GRCm39)	missense	probably benign	0.00
IGL00954:Phf20l1	APN	15	66,513,757 (GRCm39)	missense	probably damaging	1.00
IGL01025:Phf20l1	APN	15	66,484,981 (GRCm39)	missense	probably damaging	1.00
IGL01504:Phf20l1	APN	15	66,469,540 (GRCm39)	missense	possibly damaging	0.73
IGL02087:Phf20l1	APN	15	66,500,840 (GRCm39)	missense	probably damaging	1.00
IGL02273:Phf20l1	APN	15	66,511,874 (GRCm39)	missense	probably damaging	1.00
IGL02276:Phf20l1	APN	15	66,487,259 (GRCm39)	critical splice donor site	probably null
IGL02372:Phf20l1	APN	15	66,513,650 (GRCm39)	missense	probably damaging	1.00
IGL02589:Phf20l1	APN	15	66,487,481 (GRCm39)	splice site	probably benign
IGL02656:Phf20l1	APN	15	66,501,676 (GRCm39)	missense	probably damaging	1.00
IGL02691:Phf20l1	APN	15	66,476,713 (GRCm39)	missense	probably damaging	1.00
IGL02881:Phf20l1	APN	15	66,466,829 (GRCm39)	critical splice donor site	probably null
IGL02940:Phf20l1	APN	15	66,467,000 (GRCm39)	missense	probably damaging	1.00
IGL02943:Phf20l1	APN	15	66,466,733 (GRCm39)	missense	probably damaging	1.00
IGL03030:Phf20l1	APN	15	66,513,796 (GRCm39)	utr 3 prime	probably benign
IGL03034:Phf20l1	APN	15	66,469,252 (GRCm39)	missense	probably damaging	1.00
Abbreviated	UTSW	15	66,504,752 (GRCm39)	critical splice donor site	probably null
acadia	UTSW	15	66,508,669 (GRCm39)	missense	possibly damaging	0.85
curt	UTSW	15	66,511,797 (GRCm39)	missense	possibly damaging	0.90
Cut	UTSW	15	66,484,888 (GRCm39)	nonsense	probably null
shorthand	UTSW	15	66,481,396 (GRCm39)	missense	probably damaging	1.00
slang	UTSW	15	66,513,781 (GRCm39)	missense	probably benign	0.03
PIT4305001:Phf20l1	UTSW	15	66,484,901 (GRCm39)	missense	possibly damaging	0.94
R0070:Phf20l1	UTSW	15	66,511,840 (GRCm39)	missense	probably damaging	1.00
R0070:Phf20l1	UTSW	15	66,511,840 (GRCm39)	missense	probably damaging	1.00
R0562:Phf20l1	UTSW	15	66,481,453 (GRCm39)	missense	probably damaging	1.00
R0605:Phf20l1	UTSW	15	66,466,971 (GRCm39)	missense	probably damaging	1.00
R0787:Phf20l1	UTSW	15	66,487,479 (GRCm39)	splice site	probably benign
R1458:Phf20l1	UTSW	15	66,476,662 (GRCm39)	missense	probably damaging	1.00
R1619:Phf20l1	UTSW	15	66,487,108 (GRCm39)	missense	possibly damaging	0.88
R1781:Phf20l1	UTSW	15	66,504,674 (GRCm39)	missense	probably damaging	1.00
R2360:Phf20l1	UTSW	15	66,466,769 (GRCm39)	missense	probably damaging	1.00
R3973:Phf20l1	UTSW	15	66,513,665 (GRCm39)	missense	probably damaging	1.00
R4374:Phf20l1	UTSW	15	66,476,686 (GRCm39)	missense	possibly damaging	0.72
R4375:Phf20l1	UTSW	15	66,487,071 (GRCm39)	missense	probably benign	0.00
R4554:Phf20l1	UTSW	15	66,469,216 (GRCm39)	missense	probably damaging	1.00
R4913:Phf20l1	UTSW	15	66,476,704 (GRCm39)	missense	probably benign	0.03
R5092:Phf20l1	UTSW	15	66,508,762 (GRCm39)	missense	possibly damaging	0.46
R5491:Phf20l1	UTSW	15	66,487,634 (GRCm39)	missense	possibly damaging	0.67
R5713:Phf20l1	UTSW	15	66,508,669 (GRCm39)	missense	possibly damaging	0.85
R6126:Phf20l1	UTSW	15	66,508,673 (GRCm39)	missense	probably benign	0.02
R6213:Phf20l1	UTSW	15	66,504,752 (GRCm39)	critical splice donor site	probably null
R6569:Phf20l1	UTSW	15	66,501,673 (GRCm39)	missense	probably damaging	1.00
R6572:Phf20l1	UTSW	15	66,481,396 (GRCm39)	missense	probably damaging	1.00
R7100:Phf20l1	UTSW	15	66,476,689 (GRCm39)	missense	probably benign	0.01
R7208:Phf20l1	UTSW	15	66,476,638 (GRCm39)	missense	probably benign	0.05
R7436:Phf20l1	UTSW	15	66,469,599 (GRCm39)	missense	possibly damaging	0.92
R7466:Phf20l1	UTSW	15	66,508,733 (GRCm39)	missense	probably damaging	1.00
R7604:Phf20l1	UTSW	15	66,475,933 (GRCm39)	missense	probably benign	0.02
R7863:Phf20l1	UTSW	15	66,487,084 (GRCm39)	missense	possibly damaging	0.94
R7991:Phf20l1	UTSW	15	66,502,768 (GRCm39)	missense	possibly damaging	0.64
R8015:Phf20l1	UTSW	15	66,511,797 (GRCm39)	missense	possibly damaging	0.90
R8161:Phf20l1	UTSW	15	66,475,922 (GRCm39)	missense	probably damaging	1.00
R8228:Phf20l1	UTSW	15	66,511,789 (GRCm39)	missense	possibly damaging	0.81
R8857:Phf20l1	UTSW	15	66,513,781 (GRCm39)	missense	probably benign	0.03
R9295:Phf20l1	UTSW	15	66,513,752 (GRCm39)	missense	probably damaging	1.00
R9393:Phf20l1	UTSW	15	66,475,955 (GRCm39)	missense	probably damaging	1.00
R9442:Phf20l1	UTSW	15	66,484,888 (GRCm39)	nonsense	probably null
R9522:Phf20l1	UTSW	15	66,504,669 (GRCm39)	missense	possibly damaging	0.89
R9727:Phf20l1	UTSW	15	66,487,231 (GRCm39)	missense	probably benign	0.01
X0065:Phf20l1	UTSW	15	66,501,655 (GRCm39)	nonsense	probably null
X0065:Phf20l1	UTSW	15	66,469,527 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGCACATAGAACTTGAATTAGCAG -3'
(R):5'- TGTGCAGGTGATTACTATGAAAGTC -3'

Sequencing Primer
(F):5'- CTTGAATTAGCAGGACAGGATGGC -3'
(R):5'- CTATGAAAGTCATGCTGTAACAGGC -3'

Posted On

2018-09-12