Mutagenetix > Incidental Mutations

Incidental Mutation 'R7436:Phf20l1'

580576

Institutional Source

Beutler Lab

Gene Symbol

Phf20l1

Ensembl Gene

ENSMUSG00000072501

Gene Name

PHD finger protein 20-like 1

Synonyms

CGI-72, E130113K22Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.431) question?

Stock #

R7436 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66577560-66647976 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 66597750 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 168 (S168I)

Ref Sequence

ENSEMBL: ENSMUSP00000035682 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048188
AA Change: S168I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000035682
Gene: ENSMUSG00000072501
AA Change: S168I

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: S168I

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000229576
AA Change: S168I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230882
AA Change: S168I

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000230948

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	G	16: 88,759,354	Y152C	probably benign	Het
4921530L21Rik	A	T	14: 95,882,591	K261N	probably benign	Het
5830411N06Rik	A	T	7: 140,261,607	T275S	probably benign	Het
Acads	C	A	5: 115,110,998	Q365H	probably damaging	Het
Akap1	A	G	11: 88,845,528	S103P	probably damaging	Het
Ampd1	T	A	3: 103,074,119		probably null	Het
Asb16	A	G	11: 102,272,655	D157G	possibly damaging	Het
Bank1	T	C	3: 136,055,800	N748D	possibly damaging	Het
BC034090	C	A	1: 155,226,381	G46W	probably damaging	Het
C530008M17Rik	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 76,856,954		probably benign	Het
Ccdc73	T	A	2: 104,951,869	V190E	probably damaging	Het
Cyb561a3	A	G	19: 10,582,332	Y7C	probably damaging	Het
Cyp2t4	A	T	7: 27,158,243	D427V	probably damaging	Het
Cyp4f14	T	C	17: 32,909,157	T295A	probably benign	Het
D430041D05Rik	T	C	2: 104,257,102	T510A	probably benign	Het
Dennd6a	G	T	14: 26,579,710	E26*	probably null	Het
Dusp10	T	C	1: 184,069,221	I395T	probably damaging	Het
Dzip3	T	A	16: 48,951,989	H439L	probably damaging	Het
Heatr5b	T	A	17: 78,768,533	D1452V	probably benign	Het
Hsd3b2	A	G	3: 98,711,796	F278L	probably benign	Het
Hspg2	T	A	4: 137,515,664	M702K	probably damaging	Het
Hydin	T	C	8: 110,583,914	F4081L	probably damaging	Het
Ido1	T	G	8: 24,586,916	T209P	probably benign	Het
Ift122	C	T	6: 115,926,302	R1176C	probably benign	Het
Ipo8	T	C	6: 148,789,805	Y689C	probably benign	Het
Macf1	C	T	4: 123,456,643	R3809Q	probably benign	Het
Manea	T	C	4: 26,328,228	Y271C	probably damaging	Het
Mroh2b	A	G	15: 4,941,554	T1014A	probably benign	Het
Nek5	A	G	8: 22,108,040	F200L	probably damaging	Het
Nipal1	A	G	5: 72,667,641	I226V	probably benign	Het
Nipsnap3a	A	T	4: 52,994,159	N80I	probably damaging	Het
Nmur1	G	A	1: 86,386,378	P389S	probably benign	Het
Olfr1037	T	C	2: 86,084,907	Y290C	probably damaging	Het
Olfr59	T	C	11: 74,288,685	L13P	possibly damaging	Het
Olfr975	G	T	9: 39,950,053	C239*	probably null	Het
Patl2	A	C	2: 122,127,525	V84G	probably benign	Het
Pcdhb4	T	C	18: 37,309,275	V546A	probably damaging	Het
Phgdh	T	C	3: 98,339,729	N35S	probably benign	Het
Pigw	A	T	11: 84,877,963	M180K	probably damaging	Het
Pkhd1	G	T	1: 20,200,701	H3209Q	probably benign	Het
Plbd2	A	G	5: 120,486,796	F436L	probably damaging	Het
Plch2	T	C	4: 154,984,096	T1358A	probably benign	Het
Poll	C	T	19: 45,553,057	V491M	probably damaging	Het
Ppp1r35	G	A	5: 137,780,017	W258*	probably null	Het
Ptpdc1	A	T	13: 48,586,666	F430I	probably benign	Het
Ptprh	T	C	7: 4,552,743	E739G	probably damaging	Het
Ramp2	T	C	11: 101,247,939	V148A	possibly damaging	Het
Rapgef6	T	C	11: 54,610,921		probably null	Het
Rnf39	A	T	17: 36,943,349	S88C	probably benign	Het
Rpl12	A	G	2: 32,963,824	I155V	probably benign	Het
Senp5	C	T	16: 31,976,029	E596K	unknown	Het
Serpinb9d	A	G	13: 33,195,933	Y85C	probably benign	Het
Serpinf1	T	A	11: 75,416,316	Y65F	probably benign	Het
Snrnp200	G	A	2: 127,226,484		probably null	Het
Spatc1	A	T	15: 76,268,368	Q66L	probably benign	Het
Tet3	TGGCCCAGGCCCAGGC	TGGCCCAGGCCCAGGCCCAGGC	6: 83,368,229		probably benign	Het
Traf3ip1	A	G	1: 91,511,388	D342G	probably benign	Het
Txk	T	A	5: 72,696,579	T472S	probably damaging	Het
Ube2j2	T	C	4: 155,957,331	V249A	probably damaging	Het
Utrn	A	C	10: 12,439,791	N3025K	possibly damaging	Het
Vmn1r17	T	A	6: 57,360,877	M168L	probably benign	Het
Vmn1r77	T	A	7: 12,041,767	S157T	probably benign	Het
Zfp977	A	G	7: 42,580,460	S214P	probably benign	Het
Zscan10	T	C	17: 23,610,005	L507P	possibly damaging	Het

Other mutations in Phf20l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Phf20l1	APN	15	66629035	missense	probably benign	0.28
IGL00484:Phf20l1	APN	15	66615633	splice site	probably benign
IGL00668:Phf20l1	APN	15	66632849	missense	probably damaging	0.99
IGL00849:Phf20l1	APN	15	66636832	missense	probably benign	0.00
IGL00954:Phf20l1	APN	15	66641908	missense	probably damaging	1.00
IGL01025:Phf20l1	APN	15	66613132	missense	probably damaging	1.00
IGL01504:Phf20l1	APN	15	66597691	missense	possibly damaging	0.73
IGL02087:Phf20l1	APN	15	66628991	missense	probably damaging	1.00
IGL02273:Phf20l1	APN	15	66640025	missense	probably damaging	1.00
IGL02276:Phf20l1	APN	15	66615410	critical splice donor site	probably null
IGL02372:Phf20l1	APN	15	66641801	missense	probably damaging	1.00
IGL02589:Phf20l1	APN	15	66615632	splice site	probably benign
IGL02656:Phf20l1	APN	15	66629827	missense	probably damaging	1.00
IGL02691:Phf20l1	APN	15	66604864	missense	probably damaging	1.00
IGL02881:Phf20l1	APN	15	66594980	critical splice donor site	probably null
IGL02940:Phf20l1	APN	15	66595151	missense	probably damaging	1.00
IGL02943:Phf20l1	APN	15	66594884	missense	probably damaging	1.00
IGL03030:Phf20l1	APN	15	66641947	utr 3 prime	probably benign
IGL03034:Phf20l1	APN	15	66597403	missense	probably damaging	1.00
PIT4305001:Phf20l1	UTSW	15	66613052	missense	possibly damaging	0.94
R0070:Phf20l1	UTSW	15	66639991	missense	probably damaging	1.00
R0070:Phf20l1	UTSW	15	66639991	missense	probably damaging	1.00
R0562:Phf20l1	UTSW	15	66609604	missense	probably damaging	1.00
R0605:Phf20l1	UTSW	15	66595122	missense	probably damaging	1.00
R0787:Phf20l1	UTSW	15	66615630	splice site	probably benign
R1458:Phf20l1	UTSW	15	66604813	missense	probably damaging	1.00
R1619:Phf20l1	UTSW	15	66615259	missense	possibly damaging	0.88
R1781:Phf20l1	UTSW	15	66632825	missense	probably damaging	1.00
R2360:Phf20l1	UTSW	15	66594920	missense	probably damaging	1.00
R3973:Phf20l1	UTSW	15	66641816	missense	probably damaging	1.00
R4374:Phf20l1	UTSW	15	66604837	missense	possibly damaging	0.72
R4375:Phf20l1	UTSW	15	66615222	missense	probably benign	0.00
R4554:Phf20l1	UTSW	15	66597367	missense	probably damaging	1.00
R4913:Phf20l1	UTSW	15	66604855	missense	probably benign	0.03
R5092:Phf20l1	UTSW	15	66636913	missense	possibly damaging	0.46
R5491:Phf20l1	UTSW	15	66615785	missense	possibly damaging	0.67
R5713:Phf20l1	UTSW	15	66636820	missense	possibly damaging	0.85
R6126:Phf20l1	UTSW	15	66636824	missense	probably benign	0.02
R6213:Phf20l1	UTSW	15	66632903	critical splice donor site	probably null
R6569:Phf20l1	UTSW	15	66629824	missense	probably damaging	1.00
R6572:Phf20l1	UTSW	15	66609547	missense	probably damaging	1.00
R6808:Phf20l1	UTSW	15	66630913	missense	probably damaging	0.99
R7100:Phf20l1	UTSW	15	66604840	missense	probably benign	0.01
R7208:Phf20l1	UTSW	15	66604789	missense	probably benign	0.05
R7466:Phf20l1	UTSW	15	66636884	missense	probably damaging	1.00
R7604:Phf20l1	UTSW	15	66604084	missense	probably benign	0.02
X0065:Phf20l1	UTSW	15	66597678	missense	probably damaging	0.99
X0065:Phf20l1	UTSW	15	66629806	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGAGAGCCCCAAATAGCAGC -3'
(R):5'- TATGCTACTCAGAGAGCCCTATCTG -3'

Sequencing Primer
(F):5'- GCCCCAAATAGCAGCAAGAAAGAG -3'
(R):5'- TATCTGAAACAGCCTACAGAGTGTC -3'

Posted On

2019-10-07