Mutagenetix > Incidental Mutation

Incidental Mutation 'R8228:Phf20l1'

637076

Institutional Source

Beutler Lab

Gene Symbol

Phf20l1

Ensembl Gene

ENSMUSG00000072501

Gene Name

PHD finger protein 20-like 1

Synonyms

E130113K22Rik, CGI-72

MMRRC Submission

067661-MU

Accession Numbers

Essential gene?

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

Stock #

R8228 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66449409-66519825 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 66511789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 922 (V922F)

Ref Sequence

ENSEMBL: ENSMUSP00000035682 (fasta)

Gene Model

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

AlphaFold

Q8CCJ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048188
AA Change: V922F

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000035682
Gene: ENSMUSG00000072501
AA Change: V922F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	T	C	6: 72,324,500 (GRCm39)		probably null	Het
1700008O03Rik	A	G	7: 44,009,729 (GRCm39)	Y158H	probably benign	Het
4930438A08Rik	T	A	11: 58,182,381 (GRCm39)	I252N		Het
A930011G23Rik	G	A	5: 99,524,980 (GRCm39)	P60S	probably damaging	Het
Abcf1	A	G	17: 36,271,933 (GRCm39)		probably null	Het
AI987944	T	C	7: 41,026,260 (GRCm39)	T14A	probably damaging	Het
Alox12b	T	C	11: 69,054,755 (GRCm39)	Y253H	probably damaging	Het
Anapc1	T	A	2: 128,461,837 (GRCm39)	K1756*	probably null	Het
Arid5b	T	A	10: 68,114,536 (GRCm39)	E2V	possibly damaging	Het
Atp13a1	G	A	8: 70,251,569 (GRCm39)	V545M	probably damaging	Het
Atp2b4	TTCTTC	TTCTTCCTCTTC	1: 133,629,459 (GRCm39)		probably benign	Het
Cert1	A	G	13: 96,679,723 (GRCm39)	T18A	probably benign	Het
Cfap119	G	A	7: 127,184,179 (GRCm39)	T239M	probably benign	Het
Col1a1	T	G	11: 94,836,426 (GRCm39)		probably null	Het
Csdc2	C	T	15: 81,833,411 (GRCm39)	T136I	possibly damaging	Het
Dpp9	A	T	17: 56,498,129 (GRCm39)	I609N	probably damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG,TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Gjb6	T	C	14: 57,361,926 (GRCm39)	R112G	probably benign	Het
Gm19410	A	G	8: 36,252,992 (GRCm39)	K646E	possibly damaging	Het
Grik5	T	C	7: 24,709,933 (GRCm39)	E934G	probably damaging	Het
Grik5	A	T	7: 24,745,735 (GRCm39)	F446Y	possibly damaging	Het
Iffo2	C	G	4: 139,302,483 (GRCm39)	N75K	probably damaging	Het
Kif15	A	G	9: 122,821,041 (GRCm39)	N649D	possibly damaging	Het
Lrit2	G	A	14: 36,791,148 (GRCm39)	A276T	probably damaging	Het
Mcm8	T	C	2: 132,684,714 (GRCm39)		probably null	Het
Mmut	A	G	17: 41,248,219 (GRCm39)	E82G	possibly damaging	Het
Or4n4	A	G	14: 50,518,997 (GRCm39)	S238P	probably damaging	Het
Or5w8	T	A	2: 87,688,284 (GRCm39)	M255K	probably benign	Het
Pcdhga8	A	G	18: 37,861,236 (GRCm39)	Q764R	probably benign	Het
Pcgf2	T	C	11: 97,582,865 (GRCm39)	Y138C	probably benign	Het
Pkd1l2	A	T	8: 117,792,514 (GRCm39)	I426N	probably damaging	Het
Psmd6	T	C	14: 14,116,843 (GRCm38)	N160S	possibly damaging	Het
Robo1	A	G	16: 72,809,768 (GRCm39)	D1172G	probably benign	Het
Sdr9c7	T	C	10: 127,734,544 (GRCm39)	Y11H	possibly damaging	Het
Sec24c	G	T	14: 20,739,975 (GRCm39)	A635S	probably benign	Het
Tex2	T	C	11: 106,457,997 (GRCm39)	I478V	probably benign	Het
Traip	T	C	9: 107,838,265 (GRCm39)	M166T	probably benign	Het
Trdn	T	C	10: 33,033,014 (GRCm39)	S80P	probably damaging	Het
Trim46	G	T	3: 89,142,255 (GRCm39)	T744N	probably benign	Het
Tsc1	C	A	2: 28,566,141 (GRCm39)	A520D	probably benign	Het
Usp36	T	C	11: 118,155,716 (GRCm39)	E852G	possibly damaging	Het
Vmn2r101	C	T	17: 19,811,284 (GRCm39)	T456I	probably benign	Het
Zc3h7a	A	G	16: 10,956,954 (GRCm39)	F885S	probably damaging	Het
Zfp335	G	A	2: 164,746,818 (GRCm39)	R354W	probably damaging	Het
Zfp456	C	A	13: 67,514,533 (GRCm39)	C391F	probably 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
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
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'- AGACTTTCTCAGAGTCAGATTGG -3'
(R):5'- AGCAGGCAGGTAGTATATCTGTAG -3'

Sequencing Primer
(F):5'- GCTCTTGCCTACCTAAGTAG -3'
(R):5'- TGCATTCTACAACTTAAAGAGCTTC -3'

Posted On

2020-07-13