Mutagenetix > Incidental Mutation

Incidental Mutation 'R0628:Zic2'

60453

Institutional Source

Beutler Lab

Gene Symbol

Zic2

Ensembl Gene

ENSMUSG00000061524

Gene Name

zinc finger protein of the cerebellum 2

Synonyms

odd-paired homolog, GENA 29, Ku

MMRRC Submission

038817-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.902) question?

Stock #

R0628 (G1)

Quality Score

125

Status

Validated

Chromosome

Chromosomal Location

122712847-122717264 bp(+) (GRCm39)

Type of Mutation

small deletion (2 aa in frame mutation)

DNA Base Change (assembly)

CCCACCACCACCATCACCACCACCACC to CCCACCATCACCACCACCACC at 122713776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000075283 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075888]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000075888

SMART Domains

Protein: ENSMUSP00000075283
Gene: ENSMUSG00000061524

Domain	Start	End	E-Value	Type
low complexity region	18	33	N/A	INTRINSIC
low complexity region	81	103	N/A	INTRINSIC
low complexity region	131	150	N/A	INTRINSIC
low complexity region	215	241	N/A	INTRINSIC
ZnF_C2H2	265	290	5.68e1	SMART
ZnF_C2H2	299	326	6.92e0	SMART
ZnF_C2H2	332	356	8.02e-5	SMART
ZnF_C2H2	362	386	1.69e-3	SMART
ZnF_C2H2	392	414	4.54e-4	SMART
low complexity region	416	434	N/A	INTRINSIC
low complexity region	455	519	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135485

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137059

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177306

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 94.6%

Validation Efficiency

98% (58/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This protein functions as a transcriptional repressor and may regulate tissue specific expression of dopamine receptor D1. Expansion of an alanine repeat in the C-terminus of the encoded protein and other mutations in this gene cause holoprosencephaly type 5. Holoprosencephaly is the most common structural anomaly of the human brain. A polyhistidine tract polymorphism in this gene may be associated with increased risk of neural tube defects. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 5, a related family member on chromosome 13. [provided by RefSeq, Jul 2016]
PHENOTYPE: Defects in neurulation and forebrain development have been identified in both targeted and ENU induced homozygous mutants. Death occurs perinatally in the targeted mouse and during midgestation in the ENU mouse. Mice homozygous for a knock-down allele exhibit cognitive and social behavior defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	A	C	18: 65,440,367 (GRCm39)	V809G	possibly damaging	Het
Bank1	T	A	3: 135,772,151 (GRCm39)	D493V	probably damaging	Het
Camk2d	T	C	3: 126,604,273 (GRCm39)		probably benign	Het
Ccdc17	T	A	4: 116,455,745 (GRCm39)	L292H	probably damaging	Het
Ccdc7b	A	G	8: 129,837,498 (GRCm39)		probably benign	Het
Cd34	C	A	1: 194,641,525 (GRCm39)	T317K	probably damaging	Het
Col6a5	C	G	9: 105,789,649 (GRCm39)		probably null	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Copa	T	C	1: 171,918,592 (GRCm39)		probably benign	Het
Coq7	T	C	7: 118,128,867 (GRCm39)	D56G	probably damaging	Het
Dlg4	C	T	11: 69,922,610 (GRCm39)	T201I	probably damaging	Het
Dnah7a	T	A	1: 53,536,264 (GRCm39)	D2593V	probably benign	Het
Ect2l	T	A	10: 18,018,788 (GRCm39)	E536V	probably damaging	Het
Emilin3	A	G	2: 160,752,799 (GRCm39)		probably benign	Het
Eml2	T	C	7: 18,935,479 (GRCm39)		probably benign	Het
Fam135b	C	T	15: 71,320,505 (GRCm39)		probably benign	Het
Fhip2b	T	C	14: 70,825,161 (GRCm39)	T392A	possibly damaging	Het
Gart	C	T	16: 91,430,790 (GRCm39)	R424H	probably benign	Het
Gramd1a	A	G	7: 30,842,049 (GRCm39)	L80P	probably damaging	Het
Herc1	A	G	9: 66,358,163 (GRCm39)	K2415E	probably benign	Het
Ica1	C	T	6: 8,644,256 (GRCm39)		probably benign	Het
Idi2l	T	A	13: 8,990,958 (GRCm39)		probably benign	Het
Iyd	A	T	10: 3,497,127 (GRCm39)	M161L	probably damaging	Het
Kdm5a	T	C	6: 120,392,200 (GRCm39)	L974S	probably damaging	Het
Kif1a	T	C	1: 92,947,605 (GRCm39)	D1619G	probably damaging	Het
Lypd8	C	T	11: 58,275,499 (GRCm39)	T78M	probably damaging	Het
Marchf10	T	A	11: 105,280,986 (GRCm39)	H433L	probably benign	Het
Mbp	A	G	18: 82,572,742 (GRCm39)	Y13C	probably damaging	Het
Mertk	A	T	2: 128,580,233 (GRCm39)	N229I	probably damaging	Het
Msrb2	T	A	2: 19,398,091 (GRCm39)	D116E	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Otoa	G	A	7: 120,744,873 (GRCm39)		probably benign	Het
Pclo	A	G	5: 14,719,552 (GRCm39)	T1230A	unknown	Het
Polrmt	T	C	10: 79,574,979 (GRCm39)	T851A	possibly damaging	Het
Prpf6	C	T	2: 181,277,841 (GRCm39)	P401L	probably damaging	Het
Rasgrp4	A	G	7: 28,839,635 (GRCm39)		probably benign	Het
Rc3h2	A	T	2: 37,272,064 (GRCm39)		probably benign	Het
Reps1	A	G	10: 17,996,841 (GRCm39)	T588A	probably damaging	Het
Rtel1	A	C	2: 180,993,674 (GRCm39)	S782R	probably benign	Het
Sacm1l	A	G	9: 123,378,060 (GRCm39)		probably benign	Het
Skic3	G	C	13: 76,298,848 (GRCm39)	V1185L	possibly damaging	Het
Skint5	A	T	4: 113,588,266 (GRCm39)	L728*	probably null	Het
Slc9b2	T	A	3: 135,029,536 (GRCm39)		probably benign	Het
Snapc3	A	T	4: 83,368,397 (GRCm39)	H298L	probably benign	Het
Tex9	A	T	9: 72,399,233 (GRCm39)	M1K	probably null	Het
Trappc13	C	T	13: 104,291,424 (GRCm39)		probably benign	Het
Usp3	C	T	9: 66,425,726 (GRCm39)	R467H	probably benign	Het
Vmn2r11	T	A	5: 109,195,597 (GRCm39)	L576F	possibly damaging	Het
Wnk4	T	C	11: 101,165,849 (GRCm39)	F792S	probably benign	Het
Zfp1007	T	C	5: 109,826,442 (GRCm39)		probably null	Het
Zfp280d	T	C	9: 72,269,230 (GRCm39)	V764A	probably benign	Het
Zfp69	G	A	4: 120,806,622 (GRCm39)	Q4*	probably null	Het
Zfp692	T	G	11: 58,200,449 (GRCm39)	L206R	probably damaging	Het
Zic4	T	A	9: 91,266,170 (GRCm39)	Y264*	probably null	Het
Zic4	T	A	9: 91,266,172 (GRCm39)	M272K	probably benign	Het
Zscan4b	A	T	7: 10,635,390 (GRCm39)	N284K	probably damaging	Het

Other mutations in Zic2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00816:Zic2	APN	14	122,715,971 (GRCm39)	nonsense	probably null
IGL01607:Zic2	APN	14	122,716,294 (GRCm39)	splice site	probably benign
IGL02307:Zic2	APN	14	122,714,046 (GRCm39)	missense	possibly damaging	0.76
IGL02311:Zic2	APN	14	122,713,606 (GRCm39)	missense	probably damaging	0.99
IGL02561:Zic2	APN	14	122,715,957 (GRCm39)	nonsense	probably null
IGL02982:Zic2	APN	14	122,715,979 (GRCm39)	missense	probably damaging	0.98
R0001:Zic2	UTSW	14	122,716,369 (GRCm39)	missense	probably damaging	0.99
R0027:Zic2	UTSW	14	122,713,755 (GRCm39)	missense	possibly damaging	0.77
R0136:Zic2	UTSW	14	122,713,953 (GRCm39)	missense	probably damaging	0.96
R0310:Zic2	UTSW	14	122,713,776 (GRCm39)	small deletion	probably benign
R0418:Zic2	UTSW	14	122,713,776 (GRCm39)	small deletion	probably benign
R0420:Zic2	UTSW	14	122,713,776 (GRCm39)	small deletion	probably benign
R0421:Zic2	UTSW	14	122,713,776 (GRCm39)	small deletion	probably benign
R0518:Zic2	UTSW	14	122,713,776 (GRCm39)	small deletion	probably benign
R0520:Zic2	UTSW	14	122,713,776 (GRCm39)	small deletion	probably benign
R0521:Zic2	UTSW	14	122,713,776 (GRCm39)	small deletion	probably benign
R1733:Zic2	UTSW	14	122,716,359 (GRCm39)	missense	probably damaging	0.97
R1757:Zic2	UTSW	14	122,716,031 (GRCm39)	missense	possibly damaging	0.86
R2398:Zic2	UTSW	14	122,716,329 (GRCm39)	nonsense	probably null
R5323:Zic2	UTSW	14	122,713,728 (GRCm39)	missense	probably damaging	1.00
R5381:Zic2	UTSW	14	122,713,227 (GRCm39)	missense	probably damaging	0.97
R6930:Zic2	UTSW	14	122,713,869 (GRCm39)	missense	probably damaging	0.99
R7223:Zic2	UTSW	14	122,713,503 (GRCm39)	missense	probably damaging	0.98
R8750:Zic2	UTSW	14	122,714,129 (GRCm39)	missense	probably benign	0.06
R8852:Zic2	UTSW	14	122,713,530 (GRCm39)	missense	possibly damaging	0.92
R8860:Zic2	UTSW	14	122,713,530 (GRCm39)	missense	possibly damaging	0.92
Z1088:Zic2	UTSW	14	122,716,087 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CAGAACGTGCTCAATGGGCAAATG -3'
(R):5'- AAAACAAGCCCTGGCTGTCCTG -3'

Sequencing Primer
(F):5'- AATACCGCCAAGTGGCCAG -3'
(R):5'- cacacacacacacacacac -3'

Posted On

2013-07-11