Mutagenetix > Incidental Mutation

Incidental Mutation 'R5040:Zfp366'

393187

Institutional Source

Beutler Lab

Gene Symbol

Zfp366

Ensembl Gene

ENSMUSG00000050919

Gene Name

zinc finger protein 366

Synonyms

DC-SCRIPT

MMRRC Submission

042630-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.277) question?

Stock #

R5040 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99321331-99383540 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99364875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 12 (D12G)

Ref Sequence

ENSEMBL: ENSMUSP00000060040 (fasta)

Gene Model

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

AlphaFold

Q6NS86

Predicted Effect

probably damaging
Transcript: ENSMUST00000056558
AA Change: D12G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000060040
Gene: ENSMUSG00000050919
AA Change: D12G

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

0.1618

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

98% (63/64)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,669,578 (GRCm39)	Q159R	probably benign	Het
Ap2a1	T	C	7: 44,555,228 (GRCm39)	I446V	possibly damaging	Het
Areg	A	T	5: 91,292,198 (GRCm39)	H166L	possibly damaging	Het
Arhgap15	T	C	2: 43,734,825 (GRCm39)		probably null	Het
Arhgef17	T	C	7: 100,526,032 (GRCm39)	D874G	probably benign	Het
Cast	T	C	13: 74,872,932 (GRCm39)	T452A	probably damaging	Het
Ccdc154	A	T	17: 25,383,566 (GRCm39)	T208S	probably benign	Het
Chst11	T	A	10: 83,026,780 (GRCm39)	L69Q	probably benign	Het
Clec2d	G	A	6: 129,161,793 (GRCm39)	R142K	probably damaging	Het
Dis3l2	A	T	1: 86,785,059 (GRCm39)	I303F	probably damaging	Het
Dync2h1	A	G	9: 6,992,625 (GRCm39)	Y3979H	probably benign	Het
Ehmt1	A	T	2: 24,774,316 (GRCm39)	C162S	probably benign	Het
Eif4g3	G	T	4: 137,824,200 (GRCm39)	M239I	probably damaging	Het
Eif5	A	G	12: 111,506,284 (GRCm39)	D41G	probably damaging	Het
Elapor1	T	A	3: 108,382,317 (GRCm39)	D284V	probably damaging	Het
Fat1	C	T	8: 45,476,417 (GRCm39)	A1821V	probably damaging	Het
Fry	G	A	5: 150,312,319 (GRCm39)	A745T	probably damaging	Het
Galnt9	T	C	5: 110,765,771 (GRCm39)	L491P	probably damaging	Het
Gata3	A	G	2: 9,863,326 (GRCm39)	L396P	probably damaging	Het
Gyg1	A	G	3: 20,176,823 (GRCm39)		probably benign	Het
Hhip	C	A	8: 80,724,235 (GRCm39)	V336L	probably benign	Het
Hipk2	G	A	6: 38,707,816 (GRCm39)	P660S	possibly damaging	Het
Hnrnpul1	G	A	7: 25,442,414 (GRCm39)	T276I	possibly damaging	Het
Ifnl2	G	T	7: 28,208,511 (GRCm39)	R147S	possibly damaging	Het
Ilvbl	A	G	10: 78,419,152 (GRCm39)	D467G	probably damaging	Het
Kcnh1	A	T	1: 192,187,783 (GRCm39)	H748L	probably benign	Het
Lyg1	A	C	1: 37,989,892 (GRCm39)		probably benign	Het
Mak	A	G	13: 41,183,574 (GRCm39)	Y544H	possibly damaging	Het
Med1	A	G	11: 98,046,230 (GRCm39)		probably benign	Het
Mogat2	T	C	7: 98,887,724 (GRCm39)	T17A	possibly damaging	Het
Myom3	T	C	4: 135,516,970 (GRCm39)	S847P	probably damaging	Het
Nprl2	T	G	9: 107,419,599 (GRCm39)	C9G	probably null	Het
Or5b125-ps1	T	A	19: 13,056,307 (GRCm39)		noncoding transcript	Het
Pcmtd1	T	C	1: 7,190,599 (GRCm39)	Y23H	probably damaging	Het
Pkd1	C	A	17: 24,790,234 (GRCm39)	H972Q	probably benign	Het
Rbm26	A	G	14: 105,358,452 (GRCm39)	I929T	probably benign	Het
Scrn2	A	G	11: 96,921,709 (GRCm39)	T60A	probably damaging	Het
Setdb2	A	T	14: 59,653,156 (GRCm39)	I398N	probably damaging	Het
Setx	A	G	2: 29,029,350 (GRCm39)	E206G	probably damaging	Het
Sez6	T	C	11: 77,859,915 (GRCm39)		probably null	Het
Sh3bp4	C	T	1: 89,071,962 (GRCm39)	S270L	probably damaging	Het
Stac3	T	C	10: 127,343,993 (GRCm39)	I297T	probably damaging	Het
Styxl2	G	A	1: 165,927,914 (GRCm39)	T566I	probably benign	Het
Supv3l1	A	T	10: 62,282,844 (GRCm39)	V139E	possibly damaging	Het
Syce1	A	T	7: 140,358,978 (GRCm39)	H178Q	probably damaging	Het
Tamalin	G	A	15: 101,126,923 (GRCm39)	V134I	probably damaging	Het
Tcp10c	T	A	17: 13,588,453 (GRCm39)	M344K	possibly damaging	Het
Tcstv7a	C	T	13: 120,290,025 (GRCm39)	W57*	probably null	Het
Tmc1	A	G	19: 20,801,394 (GRCm39)	V502A	possibly damaging	Het
Tmco4	G	T	4: 138,747,477 (GRCm39)	G242V	probably damaging	Het
Trp53bp2	G	A	1: 182,272,271 (GRCm39)	R460H	probably damaging	Het
Virma	T	A	4: 11,528,746 (GRCm39)	C1328S	probably benign	Het
Zfp457	C	T	13: 67,440,899 (GRCm39)	A463T	probably benign	Het

Other mutations in Zfp366

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Zfp366	APN	13	99,383,080 (GRCm39)	utr 3 prime	probably benign
IGL01626:Zfp366	APN	13	99,364,920 (GRCm39)	missense	probably damaging	0.99
IGL02227:Zfp366	APN	13	99,370,696 (GRCm39)	missense	possibly damaging	0.85
IGL03074:Zfp366	APN	13	99,382,913 (GRCm39)	missense	probably benign
R0126:Zfp366	UTSW	13	99,365,129 (GRCm39)	missense	probably benign	0.14
R0145:Zfp366	UTSW	13	99,366,048 (GRCm39)	missense	probably damaging	1.00
R0234:Zfp366	UTSW	13	99,370,768 (GRCm39)	missense	probably damaging	1.00
R0234:Zfp366	UTSW	13	99,370,768 (GRCm39)	missense	probably damaging	1.00
R0376:Zfp366	UTSW	13	99,370,759 (GRCm39)	missense	probably benign	0.00
R0537:Zfp366	UTSW	13	99,365,786 (GRCm39)	missense	probably damaging	1.00
R0637:Zfp366	UTSW	13	99,365,474 (GRCm39)	missense	probably damaging	0.99
R0838:Zfp366	UTSW	13	99,365,118 (GRCm39)	missense	possibly damaging	0.73
R1386:Zfp366	UTSW	13	99,383,063 (GRCm39)	missense	probably damaging	0.98
R1422:Zfp366	UTSW	13	99,365,804 (GRCm39)	missense	probably damaging	1.00
R1669:Zfp366	UTSW	13	99,366,069 (GRCm39)	missense	probably damaging	0.99
R1839:Zfp366	UTSW	13	99,365,000 (GRCm39)	missense	probably damaging	0.98
R3751:Zfp366	UTSW	13	99,365,352 (GRCm39)	missense	probably damaging	1.00
R4782:Zfp366	UTSW	13	99,382,991 (GRCm39)	missense	probably damaging	1.00
R4908:Zfp366	UTSW	13	99,370,609 (GRCm39)	missense	possibly damaging	0.68
R4992:Zfp366	UTSW	13	99,366,003 (GRCm39)	missense	possibly damaging	0.62
R5086:Zfp366	UTSW	13	99,365,451 (GRCm39)	missense	probably benign	0.00
R5186:Zfp366	UTSW	13	99,382,676 (GRCm39)	missense	probably benign	0.00
R5249:Zfp366	UTSW	13	99,366,117 (GRCm39)	missense	probably damaging	1.00
R5450:Zfp366	UTSW	13	99,366,093 (GRCm39)	missense	probably damaging	1.00
R6838:Zfp366	UTSW	13	99,382,685 (GRCm39)	missense	possibly damaging	0.83
R6838:Zfp366	UTSW	13	99,365,015 (GRCm39)	missense	possibly damaging	0.93
R7250:Zfp366	UTSW	13	99,366,076 (GRCm39)	missense	probably damaging	1.00
R7378:Zfp366	UTSW	13	99,366,023 (GRCm39)	missense	probably damaging	1.00
R7571:Zfp366	UTSW	13	99,382,895 (GRCm39)	missense	probably benign	0.03
R7624:Zfp366	UTSW	13	99,382,804 (GRCm39)	missense	probably benign
R7653:Zfp366	UTSW	13	99,365,709 (GRCm39)	missense	probably damaging	1.00
R8367:Zfp366	UTSW	13	99,380,551 (GRCm39)	missense	possibly damaging	0.95
R9510:Zfp366	UTSW	13	99,365,874 (GRCm39)	missense	probably damaging	1.00
R9658:Zfp366	UTSW	13	99,365,435 (GRCm39)	missense	probably benign	0.13
R9734:Zfp366	UTSW	13	99,365,352 (GRCm39)	missense	probably damaging	1.00
Z1176:Zfp366	UTSW	13	99,382,858 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TACAATAGGCCCCTCGGATG -3'
(R):5'- GGGAATCCATCAAGGTCTCCTG -3'

Sequencing Primer
(F):5'- CTAGCCACATTAGCAGCTGAGTTTG -3'
(R):5'- TCCATCAAGGTCTCCTGGAGAAG -3'

Posted On

2016-06-15