Mutagenetix > Incidental Mutation

Incidental Mutation 'R1458:Phf20l1'

161916

Institutional Source

Beutler Lab

Gene Symbol

Phf20l1

Ensembl Gene

ENSMUSG00000072501

Gene Name

PHD finger protein 20-like 1

Synonyms

E130113K22Rik, CGI-72

MMRRC Submission

039513-MU

Accession Numbers

Essential gene?

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

Stock #

R1458 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66449409-66519825 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66476662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 253 (F253Y)

Ref Sequence

ENSEMBL: ENSMUSP00000155538 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048188] [ENSMUST00000229160] [ENSMUST00000229576] [ENSMUST00000230882] [ENSMUST00000230948]

AlphaFold

Q8CCJ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000048188
AA Change: F253Y

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000035682
Gene: ENSMUSG00000072501
AA Change: F253Y

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: F252Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000229576
AA Change: F253Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229590

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230584

Predicted Effect

probably damaging
Transcript: ENSMUST00000230882
AA Change: F252Y

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230915

Predicted Effect

probably damaging
Transcript: ENSMUST00000230948
AA Change: F226Y

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.0851

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.8%

Validation Efficiency

98% (95/97)

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700036A12Rik	A	G	9: 60,677,043 (GRCm39)		noncoding transcript	Het
A430110L20Rik	T	A	1: 181,055,423 (GRCm39)		noncoding transcript	Het
Abce1	T	C	8: 80,433,864 (GRCm39)	K63R	possibly damaging	Het
Acp6	A	G	3: 97,081,104 (GRCm39)		probably benign	Het
Adamts13	T	A	2: 26,878,366 (GRCm39)	L579Q	probably damaging	Het
Adamtsl3	T	A	7: 82,172,528 (GRCm39)	M497K	probably damaging	Het
Adgrb2	T	A	4: 129,908,384 (GRCm39)	M1042K	possibly damaging	Het
Akap12	A	T	10: 4,303,693 (GRCm39)	S168C	probably damaging	Het
Akap3	A	T	6: 126,842,517 (GRCm39)	M379L	probably damaging	Het
Aldh6a1	C	T	12: 84,486,437 (GRCm39)	M135I	probably null	Het
Arhgef12	A	G	9: 42,900,294 (GRCm39)	S860P	probably damaging	Het
Atp11b	A	C	3: 35,843,707 (GRCm39)	T185P	probably damaging	Het
Bcas1	T	C	2: 170,229,871 (GRCm39)	D243G	probably damaging	Het
Cdhr2	T	A	13: 54,865,685 (GRCm39)	S228T	probably damaging	Het
Cic	T	C	7: 24,979,162 (GRCm39)		probably benign	Het
Cimap1d	A	T	10: 79,481,392 (GRCm39)		probably benign	Het
Cmya5	T	A	13: 93,201,835 (GRCm39)	I3376L	probably benign	Het
Ctrc	C	A	4: 141,573,535 (GRCm39)		probably null	Het
Dchs1	G	T	7: 105,404,451 (GRCm39)	P2697Q	probably damaging	Het
Dmbt1	A	G	7: 130,646,217 (GRCm39)		probably benign	Het
Drd2	G	A	9: 49,313,512 (GRCm39)	R227H	probably damaging	Het
Dscc1	C	A	15: 54,950,160 (GRCm39)	C195F	probably damaging	Het
Dzip1	T	A	14: 119,160,125 (GRCm39)	M28L	probably benign	Het
Edar	A	T	10: 58,443,188 (GRCm39)	S313T	probably benign	Het
Eef1e1	C	A	13: 38,840,099 (GRCm39)	A69S	probably damaging	Het
Fbn1	A	G	2: 125,143,849 (GRCm39)	V2760A	probably benign	Het
Fez1	GACAAACA	GACA	9: 36,781,845 (GRCm39)		probably null	Het
Fgl1	C	G	8: 41,663,496 (GRCm39)	A11P	possibly damaging	Het
Fras1	T	C	5: 96,748,592 (GRCm39)	V689A	probably benign	Het
Fry	T	A	5: 150,304,324 (GRCm39)	D571E	probably damaging	Het
Gm11232	T	A	4: 71,675,450 (GRCm39)	R104*	probably null	Het
Gm1527	A	G	3: 28,972,199 (GRCm39)	I439V	possibly damaging	Het
Gm4922	C	A	10: 18,659,640 (GRCm39)	G361*	probably null	Het
Gm7052	T	A	17: 22,259,447 (GRCm39)		probably benign	Het
Gpatch8	A	T	11: 102,372,055 (GRCm39)	S494R	unknown	Het
Gria2	A	T	3: 80,639,352 (GRCm39)	V220E	possibly damaging	Het
Grik4	G	A	9: 42,432,418 (GRCm39)	H860Y	probably benign	Het
Gtpbp1	A	C	15: 79,591,930 (GRCm39)	S93R	probably damaging	Het
Gucy2g	C	A	19: 55,203,468 (GRCm39)		probably benign	Het
H2ac8	C	A	13: 23,755,221 (GRCm39)		probably benign	Het
Hmcn1	G	A	1: 150,485,451 (GRCm39)	R4384C	probably damaging	Het
Hspa12b	G	C	2: 130,987,112 (GRCm39)	A678P	probably damaging	Het
Igsf21	T	A	4: 139,755,435 (GRCm39)	N407Y	probably damaging	Het
Insig2	A	G	1: 121,234,885 (GRCm39)	Y174H	probably benign	Het
Itpr3	T	A	17: 27,337,346 (GRCm39)	M2413K	probably benign	Het
Kalrn	A	T	16: 33,994,857 (GRCm39)	I1322N	probably damaging	Het
Klk1b24	T	A	7: 43,840,890 (GRCm39)	M106K	possibly damaging	Het
Krt81	G	T	15: 101,358,198 (GRCm39)	Q352K	probably benign	Het
Lca5l	A	T	16: 95,961,059 (GRCm39)	S468T	possibly damaging	Het
Lvrn	T	C	18: 47,015,452 (GRCm39)		probably benign	Het
Mcpt1	T	A	14: 56,256,621 (GRCm39)		probably benign	Het
Med13l	T	C	5: 118,876,524 (GRCm39)	M900T	probably benign	Het
Med16	A	G	10: 79,743,312 (GRCm39)		probably benign	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mep1a	T	C	17: 43,802,563 (GRCm39)	H154R	probably damaging	Het
Mrc2	A	T	11: 105,228,598 (GRCm39)	D659V	probably benign	Het
Mroh8	T	A	2: 157,063,224 (GRCm39)	E799V	probably damaging	Het
Mrpl21	A	G	19: 3,334,808 (GRCm39)	Y50C	possibly damaging	Het
Msl1	A	G	11: 98,694,808 (GRCm39)		probably benign	Het
Myo1a	C	A	10: 127,555,806 (GRCm39)	Q932K	probably benign	Het
Nav3	A	C	10: 109,555,905 (GRCm39)	S1675R	probably damaging	Het
Neurl2	A	G	2: 164,674,666 (GRCm39)	V232A	possibly damaging	Het
Nfatc1	T	A	18: 80,708,482 (GRCm39)		probably benign	Het
Or2w4	C	T	13: 21,795,992 (GRCm39)	C49Y	probably benign	Het
Or5k8	T	A	16: 58,645,039 (GRCm39)	E11V	probably null	Het
P4hb	A	G	11: 120,453,381 (GRCm39)		probably benign	Het
Papss1	T	G	3: 131,311,615 (GRCm39)	I281S	probably damaging	Het
Pde10a	A	T	17: 9,183,540 (GRCm39)	D832V	probably damaging	Het
Pfkfb2	A	T	1: 130,635,927 (GRCm39)	Y35N	possibly damaging	Het
Phaf1	T	C	8: 105,973,188 (GRCm39)		probably null	Het
Pkhd1l1	G	A	15: 44,379,511 (GRCm39)	V1046I	probably benign	Het
Plin3	C	T	17: 56,591,337 (GRCm39)	A148T	probably benign	Het
Ppp1r8	T	C	4: 132,567,942 (GRCm39)		probably benign	Het
Ppp2r3d	A	G	9: 101,088,511 (GRCm39)	L604P	probably damaging	Het
Prdm5	T	C	6: 65,860,585 (GRCm39)	V239A	probably damaging	Het
Prickle1	A	G	15: 93,398,519 (GRCm39)	S770P	probably damaging	Het
Prl2c5	T	A	13: 13,365,310 (GRCm39)	I155N	probably benign	Het
Prom1	T	C	5: 44,190,274 (GRCm39)		probably benign	Het
Psg25	C	T	7: 18,263,512 (GRCm39)	G104R	probably damaging	Het
Rbm19	T	C	5: 120,282,094 (GRCm39)	V817A	probably benign	Het
Ryr2	T	A	13: 11,741,908 (GRCm39)	Y2091F	probably damaging	Het
Slc16a4	A	G	3: 107,208,248 (GRCm39)	T253A	probably benign	Het
Smg7	A	T	1: 152,731,594 (GRCm39)		probably null	Het
Spink5	C	A	18: 44,140,786 (GRCm39)	H662N	probably benign	Het
Taf2	A	T	15: 54,923,311 (GRCm39)	M322K	probably damaging	Het
Tmc2	T	C	2: 130,090,682 (GRCm39)	F676S	probably damaging	Het
Tmem177	A	G	1: 119,837,915 (GRCm39)	S255P	possibly damaging	Het
Trim46	A	T	3: 89,142,375 (GRCm39)		probably null	Het
Tubb1	T	A	2: 174,292,596 (GRCm39)		probably null	Het
Upf1	T	C	8: 70,796,904 (GRCm39)	T110A	probably benign	Het
Vmn2r9	T	A	5: 108,996,850 (GRCm39)	I140L	probably benign	Het
Zfp638	T	A	6: 83,921,638 (GRCm39)	H588Q	probably damaging	Het
Zfp780b	T	A	7: 27,664,252 (GRCm39)	N101I	probably damaging	Het
Zpld2	T	C	4: 133,924,144 (GRCm39)	D467G	probably benign	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
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
R6808:Phf20l1	UTSW	15	66,502,762 (GRCm39)	missense	probably damaging	0.99
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'- ACTTCAACGTGCATAGTCACAGCAG -3'
(R):5'- CGCTAACATGAAGTCTCTAGCACCC -3'

Sequencing Primer
(F):5'- TGCTCCTAGCACAATAGGTG -3'
(R):5'- ATGAAGTCTCTAGCACCCCTACTC -3'

Posted On

2014-03-14