Mutagenetix > Incidental Mutation

Incidental Mutation 'R6838:Zfp366'

537979

Institutional Source

Beutler Lab

Gene Symbol

Zfp366

Ensembl Gene

ENSMUSG00000050919

Gene Name

zinc finger protein 366

Synonyms

DC-SCRIPT

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.326) question?

Stock #

R6838 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99184823-99250656 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99246177 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 616 (E616G)

Ref Sequence

ENSEMBL: ENSMUSP00000060040 (fasta)

Gene Model

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

AlphaFold

Q6NS86

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056558
AA Change: E616G

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000060040
Gene: ENSMUSG00000050919
AA Change: E616G

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

Meta Mutation Damage Score

0.2579

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.7%

Validation Efficiency

97% (64/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aim2	C	G	1: 173,463,980	T317R	probably damaging	Het
Aqp9	T	A	9: 71,112,216	M321L	probably benign	Het
Avil	G	A	10: 127,013,562	D576N	probably benign	Het
Bbs1	C	T	19: 4,903,852	M94I	possibly damaging	Het
BC052040	T	C	2: 115,776,990	F275L	possibly damaging	Het
Bms1	A	G	6: 118,416,494	V139A	probably benign	Het
Bscl2	A	T	19: 8,841,381	M57L	probably damaging	Het
C2cd5	A	G	6: 143,029,638	I794T	possibly damaging	Het
C530008M17Rik	A	T	5: 76,858,209	T806S	unknown	Het
Cacna1s	C	T	1: 136,084,437	T539I	possibly damaging	Het
Cand1	T	C	10: 119,210,030	K990R	probably benign	Het
Capn7	A	G	14: 31,354,173	I311V	possibly damaging	Het
Cd180	A	G	13: 102,702,731	N41D	probably benign	Het
Celsr1	G	A	15: 85,939,194	T1671I	probably benign	Het
Cep135	A	T	5: 76,632,215	Q798L	probably damaging	Het
Cfap65	T	C	1: 74,932,021	D46G	probably benign	Het
Ddx46	G	T	13: 55,639,935		probably null	Het
Dnah7b	T	C	1: 46,191,788	L1402P	probably damaging	Het
Dnah8	A	G	17: 30,710,551	E1402G	probably damaging	Het
Dock9	A	G	14: 121,546,596	Y1989H	possibly damaging	Het
Ereg	A	G	5: 91,088,464	D50G	probably benign	Het
Evi5	G	T	5: 107,842,161	T64K	possibly damaging	Het
Frem3	A	C	8: 80,612,031	T318P	probably damaging	Het
Gm8693	T	A	7: 22,691,717	M201L	probably benign	Het
Gpx1	A	G	9: 108,339,940	D81G	possibly damaging	Het
Gramd1a	T	C	7: 31,134,504	I499V	probably benign	Het
Herc2	T	A	7: 56,108,778	D804E	probably damaging	Het
Hist1h4k	A	T	13: 21,750,205	F101I	probably damaging	Het
Hk1	T	C	10: 62,271,658	E846G	probably damaging	Het
Iars2	G	A	1: 185,329,145	A48V	probably damaging	Het
Invs	C	T	4: 48,283,278	T10M	possibly damaging	Het
Ism2	A	T	12: 87,280,201	D321E	probably benign	Het
Itpr1	T	C	6: 108,471,191	S231P	possibly damaging	Het
Kif17	A	T	4: 138,278,399		probably null	Het
Lvrn	A	G	18: 46,890,880	I765V	possibly damaging	Het
Map4k4	T	A	1: 39,976,722	C108S	probably damaging	Het
Mapk13	G	T	17: 28,777,561		probably null	Het
Mapkapk2	T	A	1: 131,058,003	K95*	probably null	Het
Mau2	A	T	8: 70,039,297		probably null	Het
Mex3a	A	G	3: 88,536,777	T387A	probably benign	Het
Myo5a	T	C	9: 75,153,883		probably null	Het
Ncbp3	A	T	11: 73,073,474	M417L	possibly damaging	Het
Nod2	A	C	8: 88,670,458	E810A	possibly damaging	Het
Nol3	A	T	8: 105,279,575	E152V	probably damaging	Het
Obox6	T	C	7: 15,833,739	E261G	possibly damaging	Het
Olfr875	A	C	9: 37,773,052	Y131S	possibly damaging	Het
Olfr91	A	T	17: 37,093,166	L236*	probably null	Het
P3h2	T	C	16: 26,105,284	S134G	possibly damaging	Het
Plxna2	A	T	1: 194,804,914	R1592S	possibly damaging	Het
Ppp1r12a	C	T	10: 108,261,276	S250L	possibly damaging	Het
Rab38	A	G	7: 88,450,709	D144G	possibly damaging	Het
Sept1	T	C	7: 127,216,722	M176V	probably benign	Het
Spata22	C	T	11: 73,345,933	T355M	probably benign	Het
Tango6	A	G	8: 106,742,074	N734S	probably benign	Het
Tbc1d17	C	A	7: 44,844,314	R295L	probably damaging	Het
Thsd7a	G	T	6: 12,504,075	P360Q	probably damaging	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Tnnt1	T	C	7: 4,507,407	N239S	possibly damaging	Het
Tpst1	A	T	5: 130,102,438	M250L	probably benign	Het
Urb1	T	A	16: 90,782,106	D689V	possibly damaging	Het
Usp28	T	A	9: 49,000,430		probably null	Het
Vldlr	G	A	19: 27,247,970	D816N	probably damaging	Het
Wdr1	A	G	5: 38,530,031	V219A	probably damaging	Het
Xndc1	T	C	7: 102,073,269	V47A	possibly damaging	Het
Zfp937	T	A	2: 150,239,346	I432K	probably benign	Het

Other mutations in Zfp366

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Zfp366	APN	13	99246572	utr 3 prime	probably benign
IGL01626:Zfp366	APN	13	99228412	missense	probably damaging	0.99
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
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
R9510:Zfp366	UTSW	13	99229366	missense	probably damaging	1.00
R9658:Zfp366	UTSW	13	99228927	missense	probably benign	0.13
R9734:Zfp366	UTSW	13	99228844	missense	probably damaging	1.00
Z1176:Zfp366	UTSW	13	99246350	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAATTCTGCTCTGGTCCTGCAG -3'
(R):5'- CCTCGCAGTCTATGTCACTG -3'

Sequencing Primer
(F):5'- CTCTGGTCCTGCAGGTCTG -3'
(R):5'- ATGTCACTGCCCTCGTGG -3'

Posted On

2018-10-18