Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01626:Zfp366'

92738

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp366

Ensembl Gene

ENSMUSG00000050919

Gene Name

zinc finger protein 366

Synonyms

DC-SCRIPT

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.327) question?

Stock #

IGL01626

Quality Score

Status

Chromosome

Chromosomal Location

99184823-99250656 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99228412 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 27 (H27R)

Ref Sequence

ENSEMBL: ENSMUSP00000060040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056558]

AlphaFold

Q6NS86

Predicted Effect

probably damaging
Transcript: ENSMUST00000056558
AA Change: H27R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000060040
Gene: ENSMUSG00000050919
AA Change: H27R

Domain	Start	End	E-Value	Type
low complexity region	159	175	N/A	INTRINSIC
low complexity region	183	196	N/A	INTRINSIC
ZnF_C2H2	250	272	1.18e-2	SMART
ZnF_C2H2	278	300	4.05e-1	SMART
ZnF_C2H2	306	328	1.79e-2	SMART
ZnF_C2H2	334	356	1.53e-1	SMART
ZnF_C2H2	362	384	1.89e-1	SMART
ZnF_C2H2	390	412	1.22e-4	SMART
ZnF_C2H2	418	440	1.36e-2	SMART
ZnF_C2H2	446	468	1.1e-2	SMART
ZnF_C2H2	474	496	8.34e-3	SMART
ZnF_C2H2	502	524	5.42e-2	SMART
ZnF_C2H2	530	553	2.4e-3	SMART
low complexity region	615	623	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit perimembranous and muscular ventricular septal defects (VSD), and overriding aorta. Short snout, micrognathia, micropthalmia, hypoplastic thymus, and hydronephrosis are also observed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	G	3: 60,019,174	D188G	probably damaging	Het
AI314180	G	A	4: 58,832,814		probably benign	Het
Aoc1	A	G	6: 48,906,531	Y447C	probably damaging	Het
Brd1	A	T	15: 88,700,887	L915M	probably damaging	Het
Cacna2d3	T	A	14: 28,943,607	E152D	possibly damaging	Het
Dnase2b	A	G	3: 146,584,616		probably null	Het
Fat4	T	C	3: 38,951,032	V1860A	probably damaging	Het
Fbxl5	C	A	5: 43,758,705	G455V	probably benign	Het
Fpr-rs4	G	A	17: 18,022,231	V167M	probably damaging	Het
Fut7	C	A	2: 25,425,331	Y153*	probably null	Het
Gnptab	A	G	10: 88,437,495	T1045A	probably damaging	Het
Gucy1a1	T	A	3: 82,108,619	D354V	probably damaging	Het
Gucy2e	A	G	11: 69,232,855	V406A	possibly damaging	Het
Herc2	T	C	7: 56,085,142	F160S	probably benign	Het
Ice2	T	G	9: 69,407,332	V42G	probably benign	Het
L3mbtl4	A	G	17: 68,630,202	Y406C	probably damaging	Het
Lepr	C	T	4: 101,733,534	T103I	probably benign	Het
Ly75	T	A	2: 60,301,015	M1589L	probably benign	Het
Map4k3	A	G	17: 80,605,809	V644A	probably damaging	Het
Micall1	A	G	15: 79,130,512	D696G	possibly damaging	Het
Muc4	T	C	16: 32,736,402	V8A	possibly damaging	Het
Myo1h	A	G	5: 114,314,966	D9G	probably damaging	Het
Nop14	T	A	5: 34,649,345	K472*	probably null	Het
Npat	T	A	9: 53,556,571	D275E	possibly damaging	Het
Nt5c1b	A	G	12: 10,374,798	T115A	probably benign	Het
Olfr429	A	G	1: 174,089,556	N172S	probably damaging	Het
Olfr709-ps1	A	T	7: 106,927,420	I13N	probably benign	Het
Pnpla7	T	A	2: 25,050,893	S1086T	possibly damaging	Het
Pold1	C	T	7: 44,533,372		probably null	Het
Ppfia1	A	G	7: 144,481,719	F1165L	probably benign	Het
Prlr	T	A	15: 10,328,718	D426E	probably benign	Het
Ptgs2	G	A	1: 150,103,727	R231H	probably damaging	Het
Rorc	A	G	3: 94,388,787	D91G	probably damaging	Het
Scaper	C	T	9: 55,912,051	V127M	possibly damaging	Het
Sema3g	A	T	14: 31,221,727	Y188F	probably damaging	Het
Slc45a3	G	T	1: 131,978,987	A400S	possibly damaging	Het
Slc9b2	C	A	3: 135,336,395	H478Q	probably benign	Het
Spg11	T	A	2: 122,060,971	H1973L	probably damaging	Het
Srgap3	A	G	6: 112,773,648	Y359H	probably damaging	Het
Stx16	T	G	2: 174,094,020	I248S	probably damaging	Het
Sytl3	A	G	17: 6,735,440	R287G	probably damaging	Het
Tiam1	T	C	16: 89,812,968	T82A	probably damaging	Het
Trpm1	T	C	7: 64,268,889	L659P	probably damaging	Het
Ttc13	G	A	8: 124,673,738		probably benign	Het
Unc80	T	C	1: 66,551,054		probably null	Het
Vldlr	G	T	19: 27,243,773	R613L	probably damaging	Het
Wdr77	C	T	3: 105,959,686	R35*	probably null	Het
Zc3h14	T	G	12: 98,779,186	I478R	possibly damaging	Het

Other mutations in Zfp366

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Zfp366	APN	13	99246572	utr 3 prime	probably benign
IGL02227:Zfp366	APN	13	99234188	missense	possibly damaging	0.85
IGL03074:Zfp366	APN	13	99246405	missense	probably benign
R0126:Zfp366	UTSW	13	99228621	missense	probably benign	0.14
R0145:Zfp366	UTSW	13	99229540	missense	probably damaging	1.00
R0234:Zfp366	UTSW	13	99234260	missense	probably damaging	1.00
R0234:Zfp366	UTSW	13	99234260	missense	probably damaging	1.00
R0376:Zfp366	UTSW	13	99234251	missense	probably benign	0.00
R0537:Zfp366	UTSW	13	99229278	missense	probably damaging	1.00
R0637:Zfp366	UTSW	13	99228966	missense	probably damaging	0.99
R0838:Zfp366	UTSW	13	99228610	missense	possibly damaging	0.73
R1386:Zfp366	UTSW	13	99246555	missense	probably damaging	0.98
R1422:Zfp366	UTSW	13	99229296	missense	probably damaging	1.00
R1669:Zfp366	UTSW	13	99229561	missense	probably damaging	0.99
R1839:Zfp366	UTSW	13	99228492	missense	probably damaging	0.98
R3751:Zfp366	UTSW	13	99228844	missense	probably damaging	1.00
R4782:Zfp366	UTSW	13	99246483	missense	probably damaging	1.00
R4908:Zfp366	UTSW	13	99234101	missense	possibly damaging	0.68
R4992:Zfp366	UTSW	13	99229495	missense	possibly damaging	0.62
R5040:Zfp366	UTSW	13	99228367	missense	probably damaging	1.00
R5086:Zfp366	UTSW	13	99228943	missense	probably benign	0.00
R5186:Zfp366	UTSW	13	99246168	missense	probably benign	0.00
R5249:Zfp366	UTSW	13	99229609	missense	probably damaging	1.00
R5450:Zfp366	UTSW	13	99229585	missense	probably damaging	1.00
R6838:Zfp366	UTSW	13	99228507	missense	possibly damaging	0.93
R6838:Zfp366	UTSW	13	99246177	missense	possibly damaging	0.83
R7250:Zfp366	UTSW	13	99229568	missense	probably damaging	1.00
R7378:Zfp366	UTSW	13	99229515	missense	probably damaging	1.00
R7571:Zfp366	UTSW	13	99246387	missense	probably benign	0.03
R7624:Zfp366	UTSW	13	99246296	missense	probably benign
R7653:Zfp366	UTSW	13	99229201	missense	probably damaging	1.00
R8367:Zfp366	UTSW	13	99244043	missense	possibly damaging	0.95
Z1176:Zfp366	UTSW	13	99246350	missense	probably benign

Posted On

2013-12-09