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?

Possibly non essential (E-score: 0.283) 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
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

2015-04-16