Mutagenetix > Incidental Mutations

Incidental Mutation 'R6572:Phf20l1'

526297

Institutional Source

Beutler Lab

Gene Symbol

Phf20l1

Ensembl Gene

ENSMUSG00000072501

Gene Name

PHD finger protein 20-like 1

Synonyms

CGI-72, E130113K22Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.333) question?

Stock #

R6572 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66577560-66647976 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66609547 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 264 (V264D)

Ref Sequence

ENSEMBL: ENSMUSP00000155465 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000048188
AA Change: V291D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000035682
Gene: ENSMUSG00000072501
AA Change: V291D

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: V290D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229486

Predicted Effect

probably damaging
Transcript: ENSMUST00000229576
AA Change: V291D

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229590

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230584

Predicted Effect

probably damaging
Transcript: ENSMUST00000230882
AA Change: V290D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230915

Predicted Effect

probably damaging
Transcript: ENSMUST00000230948
AA Change: V264D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.1292

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

97% (62/64)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	C	T	15: 37,425,717	Q34*	probably null	Het
Adamts3	T	A	5: 89,861,609	H65L	possibly damaging	Het
Ago2	A	G	15: 73,126,977	V257A	probably benign	Het
Ahnak	A	G	19: 9,007,976	K2208R	probably damaging	Het
Apc2	C	T	10: 80,311,779	S860L	probably damaging	Het
Arhgap18	A	G	10: 26,846,416		probably null	Het
Arhgap33	T	C	7: 30,527,210	E524G	probably damaging	Het
Ascc3	C	T	10: 50,690,247	Q763*	probably null	Het
Atg2a	T	C	19: 6,254,665	L1184P	probably damaging	Het
Baiap2l1	A	G	5: 144,286,302	L75P	probably damaging	Het
Btbd17	A	T	11: 114,792,220	L222Q	probably damaging	Het
Chst13	G	T	6: 90,309,606	R125S	probably benign	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,597,455		probably null	Het
Cracr2a	T	C	6: 127,608,752		probably null	Het
Dchs1	T	A	7: 105,758,806	T1940S	possibly damaging	Het
Ddit4l	G	T	3: 137,626,350	R159L	probably benign	Het
Dock3	A	G	9: 106,989,475	Y679H	probably damaging	Het
Dyrk4	T	G	6: 126,897,238	I130L	probably benign	Het
Eml2	T	C	7: 19,196,614	V373A	possibly damaging	Het
Ephb1	A	G	9: 102,066,898	F312L	probably benign	Het
Fam189a2	A	T	19: 23,984,718	M307K	possibly damaging	Het
Fndc9	A	T	11: 46,237,881	I76F	probably damaging	Het
Frk	G	A	10: 34,583,967	R186K	probably benign	Het
Gpatch3	G	T	4: 133,574,880	G41C	probably damaging	Het
Greb1l	T	A	18: 10,522,131	H633Q	probably benign	Het
Gstt4	T	A	10: 75,815,120	T223S	probably damaging	Het
Hpd	C	T	5: 123,180,676	E60K	probably benign	Het
Inpp5d	C	T	1: 87,695,396	P403S	probably damaging	Het
Klk1b9	T	A	7: 43,979,735	I189K	probably benign	Het
Kmt2e	A	T	5: 23,497,581	H239L	possibly damaging	Het
Lrriq3	A	G	3: 155,181,675	D344G	probably benign	Het
Neb	A	G	2: 52,278,847	I1892T	probably damaging	Het
Neto2	A	T	8: 85,670,404	I73N	possibly damaging	Het
Nipal3	A	T	4: 135,447,253	S396T	probably benign	Het
Olfr395	A	G	11: 73,906,803	S230P	possibly damaging	Het
Olfr638	T	A	7: 103,999,184		probably null	Het
Pigs	A	G	11: 78,339,364	Y319C	probably damaging	Het
Pkd2l2	T	C	18: 34,438,771	Y608H	probably damaging	Het
Ppard	G	T	17: 28,297,119	E106*	probably null	Het
Pramef25	A	G	4: 143,949,692	S281P	probably benign	Het
Pramef6	C	T	4: 143,895,373	V471I	possibly damaging	Het
Psenen	T	C	7: 30,562,348	T48A	probably benign	Het
Ralgps2	A	T	1: 156,824,050		probably null	Het
Ripk4	T	A	16: 97,745,905	R323*	probably null	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Het
Scgb2b24	T	A	7: 33,738,477	E68D	probably damaging	Het
Setx	A	G	2: 29,173,694	D2334G	possibly damaging	Het
Sh3bp4	A	G	1: 89,144,921	D497G	possibly damaging	Het
Smarca2	A	T	19: 26,679,173	I850F	possibly damaging	Het
Smyd1	A	G	6: 71,225,412	Y270H	probably damaging	Het
Spidr	T	A	16: 15,912,516		probably null	Het
Srms	T	C	2: 181,212,657	D39G	probably benign	Het
Trpc2	T	A	7: 102,090,006	I528N	probably damaging	Het
Tshr	A	G	12: 91,538,360	I691V	probably benign	Het
Urb1	A	C	16: 90,787,414	V560G	probably benign	Het
Usp37	A	G	1: 74,495,782	S2P	possibly damaging	Het
Vmn1r60	G	A	7: 5,544,600	S167F	probably benign	Het
Vmn2r89	G	A	14: 51,455,993	V267I	probably damaging	Het
Washc3	T	A	10: 88,213,706	D63E	probably benign	Het
Wdr89	A	G	12: 75,633,385	S32P	probably damaging	Het
Zfp157	T	C	5: 138,457,051	S504P	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
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
R7436:Phf20l1	UTSW	15	66597750	missense	possibly damaging	0.92
R7466:Phf20l1	UTSW	15	66636884	missense	probably damaging	1.00
R7604:Phf20l1	UTSW	15	66604084	missense	probably benign	0.02
R7863:Phf20l1	UTSW	15	66615235	missense	possibly damaging	0.94
R7946:Phf20l1	UTSW	15	66615235	missense	possibly damaging	0.94
R8015:Phf20l1	UTSW	15	66639948	missense	possibly damaging	0.90
X0065:Phf20l1	UTSW	15	66597678	missense	probably damaging	0.99
X0065:Phf20l1	UTSW	15	66629806	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGCAGAATGATATGCTACTCTAC -3'
(R):5'- TGAGTCAGTGCTCTATCCCCATATC -3'

Sequencing Primer
(F):5'- CATCTTAATCTAGACTTTGAAGCCAG -3'
(R):5'- TATCCCCATATCTGATCAGAGGG -3'

Posted On

2018-06-22