Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03034:Phf20l1'

408582

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: 0.358) question?

Stock #

IGL03034

Quality Score

Status

Chromosome

Chromosomal Location

66577560-66647976 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66597403 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 129 (K129E)

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: K129E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000035682
Gene: ENSMUSG00000072501
AA Change: K129E

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: K129E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000229576
AA Change: K129E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229590

Predicted Effect

probably damaging
Transcript: ENSMUST00000230882
AA Change: K129E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230915

Predicted Effect

probably damaging
Transcript: ENSMUST00000230948
AA Change: K129E

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530401A14Rik	C	T	11: 81,890,082		probably benign	Het
Ablim2	A	G	5: 35,828,165	T269A	probably benign	Het
Asgr2	G	T	11: 70,098,263	G178W	probably damaging	Het
Chtf18	A	G	17: 25,727,346		probably benign	Het
Cnmd	C	T	14: 79,641,928	A257T	probably benign	Het
Cox7a1	A	G	7: 30,185,268		probably benign	Het
Cpox	C	T	16: 58,675,355	T345M	probably damaging	Het
Crisp1	T	C	17: 40,307,728	T81A	probably benign	Het
Dcc	T	A	18: 71,575,143	R501*	probably null	Het
Dlx6	A	C	6: 6,863,807	Q143P	probably benign	Het
Dpp10	T	A	1: 123,341,619	Y687F	probably damaging	Het
Eif2b1	A	G	5: 124,571,831	V228A	probably benign	Het
Enpep	T	C	3: 129,298,950	D528G	probably damaging	Het
Fbxo6	G	A	4: 148,146,122	Q228*	probably null	Het
Iars	T	A	13: 49,690,489	N146K	possibly damaging	Het
Kctd9	T	A	14: 67,734,279	S268T	probably benign	Het
Kifap3	G	A	1: 163,888,277	V749M	probably benign	Het
Mdm4	T	C	1: 133,011,071	D94G	probably damaging	Het
Mllt10	T	G	2: 18,065,036	M1R	probably null	Het
Mtcl1	T	C	17: 66,344,198	Y1424C	probably damaging	Het
Mybpc2	A	T	7: 44,511,897	I549N	possibly damaging	Het
Myocd	T	C	11: 65,218,685	T87A	probably benign	Het
Nr3c2	T	G	8: 77,187,638	Y824*	probably null	Het
Olfr1270	A	G	2: 90,149,833	Y58H	probably damaging	Het
Olfr1437	T	C	19: 12,322,654	T58A	possibly damaging	Het
Olfr1447	T	C	19: 12,901,757	T8A	possibly damaging	Het
Olfr551	G	A	7: 102,587,940	H268Y	probably benign	Het
Olfr791	A	T	10: 129,526,658	I144F	probably benign	Het
Omg	T	A	11: 79,502,121	T304S	possibly damaging	Het
Pde3a	G	A	6: 141,492,400		probably benign	Het
Phka2	G	T	X: 160,577,550	E858*	probably null	Het
Pp2d1	T	C	17: 53,508,053	T548A	possibly damaging	Het
Prr14l	G	A	5: 32,827,438	A1571V	possibly damaging	Het
Rbms3	A	G	9: 117,251,811		probably benign	Het
Sparcl1	T	C	5: 104,093,237	E107G	probably damaging	Het
Stra6l	A	G	4: 45,885,392	D620G	probably benign	Het
Traf3ip2	A	T	10: 39,626,219	K121I	probably damaging	Het
Ttc34	T	C	4: 154,861,183	S734P	probably damaging	Het
Zfp953	C	T	13: 67,343,462	C142Y	probably damaging	Het
Zfp955b	T	A	17: 33,302,168	C204S	probably benign	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
Abbreviated	UTSW	15	66632903	critical splice donor site	probably null
curt	UTSW	15	66639948	missense	possibly damaging	0.90
shorthand	UTSW	15	66609547	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
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
X0065:Phf20l1	UTSW	15	66597678	missense	probably damaging	0.99
X0065:Phf20l1	UTSW	15	66629806	nonsense	probably null

Posted On

2016-08-02