Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00484:Phf20l1'

4090

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

Essential gene?

Possibly non essential (E-score: 0.328) question?

Stock #

IGL00484

Quality Score

Status

Chromosome

Chromosomal Location

66577560-66647976 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 66615633 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155465 (fasta)

Gene Model

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

AlphaFold

Q8CCJ9

Predicted Effect

probably benign
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 benign
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 benign
Transcript: ENSMUST00000230948

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810013L24Rik	T	C	16: 8,831,311		probably benign	Het
Adgra1	A	G	7: 139,875,944	Q496R	probably benign	Het
Ankrd17	A	T	5: 90,268,361	S1151T	probably damaging	Het
Ankrd55	A	G	13: 112,367,794	K330R	probably benign	Het
Anln	A	T	9: 22,360,824	Y666*	probably null	Het
Atp1a2	A	G	1: 172,276,002	W984R	probably damaging	Het
Atp8b3	G	T	10: 80,526,164		probably benign	Het
Casc3	A	G	11: 98,823,202	E420G	possibly damaging	Het
Cep250	G	A	2: 155,991,329	D1724N	probably benign	Het
Dhx15	T	G	5: 52,166,812	E379D	probably benign	Het
Dock1	T	A	7: 135,146,531		probably benign	Het
Exph5	C	T	9: 53,376,706	Q1696*	probably null	Het
Fkbp6	C	A	5: 135,339,948	A213S	possibly damaging	Het
Fndc4	A	G	5: 31,293,496		probably benign	Het
Gli3	A	T	13: 15,644,392	T260S	possibly damaging	Het
Glmp	T	A	3: 88,325,862		probably null	Het
Gm12794	T	C	4: 101,941,701	F290L	probably benign	Het
Gm13101	G	A	4: 143,966,614		probably benign	Het
Hist1h2an	G	T	13: 21,786,921	R100S	probably benign	Het
Ighv1-19	G	A	12: 114,708,709	T97I	probably benign	Het
Kdm6b	T	C	11: 69,406,306	S407G	possibly damaging	Het
Lrp1b	T	C	2: 41,110,861	Y2231C	probably damaging	Het
Lyst	T	A	13: 13,709,603	S2999T	probably benign	Het
Lztr1	T	C	16: 17,517,450		probably benign	Het
N4bp2	T	C	5: 65,807,524	V972A	probably damaging	Het
Ncoa6	A	T	2: 155,406,208	S1725R	probably damaging	Het
Nfkbiz	A	G	16: 55,817,909	V396A	probably benign	Het
Nup205	A	G	6: 35,214,802	Q1074R	probably damaging	Het
Pard3	T	C	8: 127,371,846	V456A	probably benign	Het
Peli1	T	A	11: 21,146,952	V114E	probably damaging	Het
Pik3r1	A	C	13: 101,701,747	I267S	probably benign	Het
Polh	C	T	17: 46,172,243		probably benign	Het
Ppl	A	G	16: 5,087,952	I1493T	probably benign	Het
Prg3	A	G	2: 84,988,747	I6V	probably benign	Het
Ptprg	T	C	14: 12,215,220	V1069A	probably damaging	Het
Rasal2	A	T	1: 157,174,175		probably null	Het
Slc36a2	A	T	11: 55,162,788	Y341*	probably null	Het
Smim4	T	A	14: 31,088,922		probably benign	Het
Snapc3	A	G	4: 83,436,396	I215V	probably damaging	Het
Srrm2	T	A	17: 23,818,518	S1475T	probably benign	Het
Sycp2	A	T	2: 178,382,348	D414E	probably damaging	Het
Tanc1	A	G	2: 59,793,176	T468A	probably benign	Het
Tfap2d	A	G	1: 19,142,881	T310A	probably benign	Het
Tgfbr2	T	A	9: 116,158,289	I51F	probably benign	Het
Trip11	A	T	12: 101,885,311	C546*	probably null	Het
Ttbk2	C	T	2: 120,773,886	W210*	probably null	Het
Upk1b	T	G	16: 38,780,016	N201H	possibly damaging	Het
Ush2a	A	T	1: 188,782,513	T3180S	probably benign	Het
Vps13d	T	G	4: 145,126,575	Q2323P	probably benign	Het
Zfp810	A	T	9: 22,278,309	Y434*	probably null	Het

Other mutations in Phf20l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Phf20l1	APN	15	66629035	missense	probably benign	0.28
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
Abbreviated	UTSW	15	66632903	critical splice donor site	probably null
acadia	UTSW	15	66636820	missense	possibly damaging	0.85
curt	UTSW	15	66639948	missense	possibly damaging	0.90
Cut	UTSW	15	66613039	nonsense	probably null
shorthand	UTSW	15	66609547	missense	probably damaging	1.00
slang	UTSW	15	66641932	missense	probably benign	0.03
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
R7991:Phf20l1	UTSW	15	66630919	missense	possibly damaging	0.64
R8015:Phf20l1	UTSW	15	66639948	missense	possibly damaging	0.90
R8161:Phf20l1	UTSW	15	66604073	missense	probably damaging	1.00
R8228:Phf20l1	UTSW	15	66639940	missense	possibly damaging	0.81
R8857:Phf20l1	UTSW	15	66641932	missense	probably benign	0.03
R9295:Phf20l1	UTSW	15	66641903	missense	probably damaging	1.00
R9393:Phf20l1	UTSW	15	66604106	missense	probably damaging	1.00
R9442:Phf20l1	UTSW	15	66613039	nonsense	probably null
R9522:Phf20l1	UTSW	15	66632820	missense	possibly damaging	0.89
R9727:Phf20l1	UTSW	15	66615382	missense	probably benign	0.01
X0065:Phf20l1	UTSW	15	66597678	missense	probably damaging	0.99
X0065:Phf20l1	UTSW	15	66629806	nonsense	probably null

Posted On

2012-04-20