Mutagenetix > Incidental Mutation

Incidental Mutation 'R2242:Zic4'

240700

Institutional Source

Beutler Lab

Gene Symbol

Zic4

Ensembl Gene

ENSMUSG00000036972

Gene Name

zinc finger protein of the cerebellum 4

Synonyms

MMRRC Submission

040242-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.270) question?

Stock #

R2242 (G1)

Quality Score

173

Status

Not validated

Chromosome

Chromosomal Location

91247636-91271404 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 91260706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066384] [ENSMUST00000172646] [ENSMUST00000173054] [ENSMUST00000173342] [ENSMUST00000174212] [ENSMUST00000173933]

AlphaFold

Q61467

Predicted Effect

probably benign
Transcript: ENSMUST00000066384

SMART Domains

Protein: ENSMUSP00000069568
Gene: ENSMUSG00000036972

Domain	Start	End	E-Value	Type
ZnF_C2H2	135	169	4.74e1	SMART
ZnF_C2H2	178	205	7.68e0	SMART
ZnF_C2H2	211	235	8.02e-5	SMART
ZnF_C2H2	241	265	7.15e-2	SMART
ZnF_C2H2	271	295	3.21e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000085242

SMART Domains

Protein: ENSMUSP00000082339
Gene: ENSMUSG00000036972

Domain	Start	End	E-Value	Type
ZnF_C2H2	24	48	7.15e-2	SMART
ZnF_C2H2	54	78	3.21e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170572

Predicted Effect

probably benign
Transcript: ENSMUST00000172646

SMART Domains

Protein: ENSMUSP00000134053
Gene: ENSMUSG00000036972

Domain	Start	End	E-Value	Type
ZnF_C2H2	128	162	4.74e1	SMART
ZnF_C2H2	171	198	7.68e0	SMART
ZnF_C2H2	204	228	8.02e-5	SMART
ZnF_C2H2	234	258	7.15e-2	SMART
ZnF_C2H2	264	288	3.21e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172858

SMART Domains

Protein: ENSMUSP00000133795
Gene: ENSMUSG00000036972

Domain	Start	End	E-Value	Type
ZnF_C2H2	135	169	4.74e1	SMART
ZnF_C2H2	178	205	7.68e0	SMART
ZnF_C2H2	211	235	8.02e-5	SMART
ZnF_C2H2	241	265	7.15e-2	SMART
ZnF_C2H2	271	295	3.21e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173054

SMART Domains

Protein: ENSMUSP00000134364
Gene: ENSMUSG00000036972

Domain	Start	End	E-Value	Type
PDB:2EJ4\|A	122	181	3e-16	PDB
Blast:ZnF_C2H2	128	151	5e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000173342

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174611

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174802

Predicted Effect

probably benign
Transcript: ENSMUST00000174212

SMART Domains

Protein: ENSMUSP00000133808
Gene: ENSMUSG00000036972

Domain	Start	End	E-Value	Type
PDB:2EJ4\|A	122	158	3e-9	PDB
Blast:ZnF_C2H2	128	158	3e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000173933

SMART Domains

Protein: ENSMUSP00000133958
Gene: ENSMUSG00000036972

Domain	Start	End	E-Value	Type
ZnF_C2H2	128	162	4.74e1	SMART
ZnF_C2H2	171	198	7.68e0	SMART
ZnF_C2H2	204	228	8.02e-5	SMART
ZnF_C2H2	234	258	7.15e-2	SMART
ZnF_C2H2	264	288	3.21e-4	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

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. Members of this family are important during development, and have been associated with X-linked visceral heterotaxy and holoprosencephaly type 5. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 1, a related family member on chromosome 3. Heterozygous deletion of these linked genes is involved in Dandy-Walker malformation, which is a congenital cerebellar malformation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Dec 2009]
PHENOTYPE: Mice heterozygous for a knock-out allele exhibit posterior cerebellar hypoplasia and a mild defect in anterior cerebellar foliation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	A	T	13: 68,837,460 (GRCm39)	S630T	probably benign	Het
Afap1l2	T	C	19: 56,902,900 (GRCm39)	I760V	possibly damaging	Het
Cdc20	A	G	4: 118,290,722 (GRCm39)	V426A	probably benign	Het
Clca3a2	T	C	3: 144,796,551 (GRCm39)	S219G	probably damaging	Het
Corin	A	T	5: 72,490,054 (GRCm39)	D603E	probably damaging	Het
Dctn1	A	G	6: 83,176,687 (GRCm39)	Y1205C	probably damaging	Het
Dync2h1	A	T	9: 7,037,828 (GRCm39)		probably null	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Eif1ad	CGAGGAGGAGGAGGAGGAGG	CGAGGAGGAGGAGGAGG	19: 5,420,086 (GRCm39)		probably benign	Het
Fes	T	G	7: 80,031,473 (GRCm39)	E467A	probably damaging	Het
Ftsj3	T	A	11: 106,141,604 (GRCm39)	Q548L	probably benign	Het
Gpc6	A	T	14: 117,424,199 (GRCm39)	T96S	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Lama4	G	A	10: 38,902,689 (GRCm39)	C221Y	probably damaging	Het
Malrd1	T	C	2: 16,106,755 (GRCm39)	C1856R	unknown	Het
Mfsd6	G	T	1: 52,748,757 (GRCm39)	P36Q	probably benign	Het
Ofcc1	A	G	13: 40,296,263 (GRCm39)	S524P	probably benign	Het
Or13c3	A	G	4: 52,855,769 (GRCm39)	V248A	probably damaging	Het
Or2n1b	A	G	17: 38,459,613 (GRCm39)	I45V	possibly damaging	Het
Ripor2	A	G	13: 24,855,755 (GRCm39)	E65G	probably benign	Het
Sardh	A	T	2: 27,125,527 (GRCm39)	V329E	possibly damaging	Het
Slc37a3	A	G	6: 39,315,739 (GRCm39)	S446P	probably benign	Het
Vmn2r57	T	C	7: 41,077,498 (GRCm39)	T223A	probably benign	Het
Wdr47	A	G	3: 108,526,431 (GRCm39)	D318G	probably damaging	Het

Other mutations in Zic4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02423:Zic4	APN	9	91,266,228 (GRCm39)	missense	probably damaging	1.00
PIT4418001:Zic4	UTSW	9	91,261,447 (GRCm39)	missense	possibly damaging	0.91
R0628:Zic4	UTSW	9	91,266,172 (GRCm39)	missense	probably benign	0.09
R0628:Zic4	UTSW	9	91,266,170 (GRCm39)	nonsense	probably null
R1747:Zic4	UTSW	9	91,266,199 (GRCm39)	missense	probably damaging	1.00
R3917:Zic4	UTSW	9	91,266,394 (GRCm39)	splice site	probably benign
R4021:Zic4	UTSW	9	91,261,089 (GRCm39)	missense	probably benign	0.00
R4457:Zic4	UTSW	9	91,261,315 (GRCm39)	missense	probably damaging	0.97
R4722:Zic4	UTSW	9	91,261,257 (GRCm39)	missense	probably damaging	1.00
R5135:Zic4	UTSW	9	91,266,205 (GRCm39)	missense	probably damaging	1.00
R5441:Zic4	UTSW	9	91,266,253 (GRCm39)	missense	probably damaging	1.00
R5629:Zic4	UTSW	9	91,260,805 (GRCm39)	missense	probably benign	0.36
R7179:Zic4	UTSW	9	91,261,174 (GRCm39)	missense	possibly damaging	0.89
R7238:Zic4	UTSW	9	91,261,450 (GRCm39)	missense	probably benign	0.38
R7801:Zic4	UTSW	9	91,266,297 (GRCm39)	missense	probably benign	0.03
R7914:Zic4	UTSW	9	91,266,181 (GRCm39)	missense	probably damaging	1.00
R9178:Zic4	UTSW	9	91,260,913 (GRCm39)	missense	possibly damaging	0.87
X0018:Zic4	UTSW	9	91,260,856 (GRCm39)	missense	probably damaging	1.00
Z1177:Zic4	UTSW	9	91,260,909 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TAAGGGTCTTACACCTCTGCAG -3'
(R):5'- AGGAGTCCGTTCAAAGGACG -3'

Sequencing Primer
(F):5'- TCTGCAGCAGAGGCCGTG -3'
(R):5'- CGTTCAAAGGACGGCTGTG -3'

Posted On

2014-10-15