Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02691:Phf20l1'

303768

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?

Probably non essential (E-score: 0.225) question?

Stock #

IGL02691

Quality Score

Status

Chromosome

Chromosomal Location

66577560-66647976 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66604864 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 269 (N269S)

Ref Sequence

ENSEMBL: ENSMUSP00000155575 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000048188
AA Change: N270S

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000035682
Gene: ENSMUSG00000072501
AA Change: N270S

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: N269S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000229576
AA Change: N270S

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229590

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230584

Predicted Effect

probably damaging
Transcript: ENSMUST00000230882
AA Change: N269S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230915

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230948
AA Change: N243S

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	T	C	4: 128,761,664	S40P	probably benign	Het
Actl9	G	T	17: 33,433,118	V51L	probably damaging	Het
Adcy6	A	T	15: 98,604,304	F143Y	probably damaging	Het
Agps	A	T	2: 75,891,860	I465F	probably benign	Het
Armc3	T	A	2: 19,235,484	F17L	probably damaging	Het
Arsk	A	C	13: 76,074,950	M176R	probably damaging	Het
Asz1	G	A	6: 18,076,557	T212I	probably damaging	Het
Atp6v1a	A	G	16: 44,111,619	I102T	probably damaging	Het
Bpifb6	T	A	2: 153,902,645	L2Q	unknown	Het
Cad	A	G	5: 31,055,294	Y45C	probably damaging	Het
Ccdc93	A	G	1: 121,486,613	D451G	possibly damaging	Het
Cenpj	A	G	14: 56,552,090	I834T	probably benign	Het
Cyp2j12	C	T	4: 96,132,994		probably null	Het
Dhx8	G	A	11: 101,752,004		probably benign	Het
Dync1i1	A	G	6: 5,800,767		probably benign	Het
Ell2	T	A	13: 75,756,486	D99E	probably damaging	Het
Enpp1	G	T	10: 24,711,892	P34T	probably damaging	Het
Fras1	T	A	5: 96,744,705	V2888E	possibly damaging	Het
Gm10451	T	C	12: 76,451,299		noncoding transcript	Het
Gmfg	A	G	7: 28,444,870	Y40C	probably damaging	Het
Gnal	T	C	18: 67,222,675	I369T	probably damaging	Het
Gzmn	T	C	14: 56,166,913	T156A	probably benign	Het
H2-DMb2	A	T	17: 34,147,858	H88L	probably benign	Het
Ighv7-3	T	C	12: 114,153,396	T49A	probably benign	Het
Jakmip3	C	T	7: 139,026,844	Q450*	probably null	Het
Klhl20	A	T	1: 161,106,874		probably benign	Het
Klk6	A	G	7: 43,828,500	T99A	probably benign	Het
Lhx3	A	G	2: 26,203,085	C118R	probably damaging	Het
Mapkbp1	T	C	2: 119,973,174		probably benign	Het
Naa15	A	G	3: 51,451,326	E294G	probably damaging	Het
Nfia	C	T	4: 98,081,808	Q373*	probably null	Het
Notch2	C	A	3: 98,135,607	Y1429*	probably null	Het
Oc90	A	G	15: 65,882,561	S252P	probably damaging	Het
Olfr1084	T	C	2: 86,638,838	Y290C	probably damaging	Het
Olfr681	A	G	7: 105,122,131	I225V	probably damaging	Het
Pde3b	T	A	7: 114,508,085		probably benign	Het
Pdss1	G	A	2: 22,915,241	V211I	probably benign	Het
Phactr1	G	T	13: 43,077,737	M226I	probably benign	Het
Phf11c	A	G	14: 59,384,787	S259P	probably damaging	Het
Piezo1	A	G	8: 122,501,949	V229A	possibly damaging	Het
Plcb2	T	C	2: 118,710,963	K997R	probably benign	Het
Ppm1m	A	T	9: 106,195,369	V449E	probably damaging	Het
Rbm12	C	T	2: 156,095,560		probably benign	Het
Rgs14	A	G	13: 55,379,023		probably null	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Scamp5	G	T	9: 57,451,377	R39S	probably damaging	Het
Slc5a6	C	T	5: 31,042,174	V15I	probably damaging	Het
Snx25	A	T	8: 46,105,265	V235E	possibly damaging	Het
Tdrd1	G	T	19: 56,843,852	E400D	probably damaging	Het
Tln1	T	C	4: 43,539,544	R1593G	probably benign	Het
Trdv2-2	T	C	14: 53,961,582	F110L	possibly damaging	Het
Ush2a	A	C	1: 188,734,752	Y2871S	probably damaging	Het
Vars2	A	C	17: 35,660,248	L592R	probably damaging	Het
Vipr2	T	A	12: 116,136,229	C239S	probably benign	Het
Vmn1r200	A	T	13: 22,395,258	D68V	probably damaging	Het
Vmn1r7	A	T	6: 57,024,388	S296T	probably benign	Het
Vmn2r95	T	C	17: 18,451,858	I619T	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
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
X0065:Phf20l1	UTSW	15	66597678	missense	probably damaging	0.99
X0065:Phf20l1	UTSW	15	66629806	nonsense	probably null

Posted On

2015-04-16