Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02276:Phf20l1'

287352

Institutional Source

Australian Phenomics Network (link to record)

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: 0.333) question?

Stock #

IGL02276

Quality Score

Status

Chromosome

Chromosomal Location

66577560-66647976 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 66615410 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155465 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000048188

SMART Domains

Protein: ENSMUSP00000035682
Gene: ENSMUSG00000072501

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 null
Transcript: ENSMUST00000229160

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229486

Predicted Effect

probably benign
Transcript: ENSMUST00000229576

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229590

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230250

Predicted Effect

probably benign
Transcript: ENSMUST00000230882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230915

Predicted Effect

probably null
Transcript: ENSMUST00000230948

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	C	1: 165,559,128	V1140A	probably damaging	Het
B020004J07Rik	T	C	4: 101,838,109	S2G	possibly damaging	Het
Ccdc88b	A	G	19: 6,856,107		probably null	Het
Cep135	A	G	5: 76,634,246	N904S	probably benign	Het
Dnajc12	G	A	10: 63,408,258	R109Q	probably damaging	Het
Dpp4	A	G	2: 62,356,951		probably benign	Het
Duox2	A	T	2: 122,294,085	N380K	probably benign	Het
Dusp11	A	T	6: 85,958,617	D91E	probably damaging	Het
Fkbp15	C	A	4: 62,336,466	E266*	probably null	Het
Gm10337	A	G	15: 102,503,734	V324A	probably damaging	Het
Gm4951	A	T	18: 60,246,079	I229F	probably damaging	Het
Grik3	A	T	4: 125,623,502	D46V	possibly damaging	Het
Hdac9	G	A	12: 34,431,926	T181I	probably damaging	Het
Large1	T	A	8: 72,818,093	M686L	probably benign	Het
Lca5	C	A	9: 83,398,585	L387F	possibly damaging	Het
Mtmr9	A	T	14: 63,530,276	W295R	probably damaging	Het
Olfr132	A	G	17: 38,130,593	S200P	probably damaging	Het
Olfr194	A	C	16: 59,120,015	D18E	probably benign	Het
Plce1	A	G	19: 38,524,757	S167G	probably benign	Het
Plekha6	C	A	1: 133,293,861	D934E	possibly damaging	Het
Ptpn6	A	C	6: 124,728,865	D105E	probably null	Het
Rtp1	T	C	16: 23,431,313	S143P	probably benign	Het
Rttn	A	C	18: 89,048,454	Q1208P	possibly damaging	Het
Snx27	A	T	3: 94,531,379	V183D	probably damaging	Het
Stim2	T	C	5: 54,053,370		probably benign	Het
Trak1	A	T	9: 121,451,668	E271D	probably damaging	Het
Ttn	A	T	2: 76,943,882		probably benign	Het
Vmn2r4	G	A	3: 64,406,456	T279I	possibly damaging	Het
Vmn2r73	A	T	7: 85,869,772		probably null	Het
Zfp819	G	A	7: 43,612,004	V32I	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
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
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

Posted On

2015-04-16