Mutagenetix > Incidental Mutation

Incidental Mutation 'R7801:Zic4'

600538

Institutional Source

Beutler Lab

Gene Symbol

Zic4

Ensembl Gene

ENSMUSG00000036972

Gene Name

zinc finger protein of the cerebellum 4

Synonyms

MMRRC Submission

045856-MU

Accession Numbers

Essential gene?

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

Stock #

R7801 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91247636-91271404 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 91266297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 314 (A314S)

Ref Sequence

ENSEMBL: ENSMUSP00000069568 (fasta)

Gene Model

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

AlphaFold

Q61467

Predicted Effect

probably benign
Transcript: ENSMUST00000066384
AA Change: A314S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000069568
Gene: ENSMUSG00000036972
AA Change: A314S

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: ENSMUST00000172646
AA Change: A307S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000134053
Gene: ENSMUSG00000036972
AA Change: A307S

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

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: ENSMUST00000173933
AA Change: A307S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000133958
Gene: ENSMUSG00000036972
AA Change: A307S

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (47/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	A	G	1: 89,558,207 (GRCm39)	Y165C	probably damaging	Het
Agbl3	A	T	6: 34,816,300 (GRCm39)	T742S	probably benign	Het
Arhgef10l	T	C	4: 140,271,578 (GRCm39)	T651A	probably benign	Het
Arsb	T	A	13: 93,998,835 (GRCm39)	I381N	probably damaging	Het
Blzf1	A	G	1: 164,123,478 (GRCm39)	V283A	probably benign	Het
Cadps	C	T	14: 12,489,476 (GRCm38)		probably null	Het
Casz1	A	T	4: 149,022,706 (GRCm39)	T591S	probably damaging	Het
Ccne2	T	C	4: 11,194,079 (GRCm39)		probably null	Het
Chst9	T	C	18: 15,585,334 (GRCm39)	T410A	probably benign	Het
Ciart	G	A	3: 95,788,656 (GRCm39)	P61L	probably damaging	Het
Fam234a	T	C	17: 26,437,172 (GRCm39)	D169G	probably benign	Het
Fat1	C	T	8: 45,495,260 (GRCm39)	P4116L	probably damaging	Het
Fbxo21	G	T	5: 118,124,189 (GRCm39)	A166S	probably damaging	Het
Gbf1	A	G	19: 46,261,082 (GRCm39)	I1216V	probably benign	Het
Gper1	G	A	5: 139,412,443 (GRCm39)	A263T	probably benign	Het
Hdlbp	G	T	1: 93,358,029 (GRCm39)		probably null	Het
Ighg3	A	T	12: 113,323,436 (GRCm39)	L280Q		Het
Impa1	T	C	3: 10,386,727 (GRCm39)	T171A	probably benign	Het
Ints7	T	A	1: 191,347,859 (GRCm39)	Y744N	possibly damaging	Het
Irgc	G	T	7: 24,131,959 (GRCm39)	A286D	probably damaging	Het
Kif18a	T	C	2: 109,118,190 (GRCm39)	S2P	probably damaging	Het
Macf1	A	T	4: 123,302,064 (GRCm39)	W813R	probably damaging	Het
Mapkbp1	T	G	2: 119,842,554 (GRCm39)	H157Q	probably damaging	Het
Mfsd4b2	T	A	10: 39,799,777 (GRCm39)	M42L	probably benign	Het
Mon2	A	G	10: 122,895,091 (GRCm39)		probably null	Het
Myrfl	T	A	10: 116,684,240 (GRCm39)	H161L	probably benign	Het
Or2aj6	T	C	16: 19,443,373 (GRCm39)	H159R	probably damaging	Het
Or7g19	A	C	9: 18,856,555 (GRCm39)	S204R	probably damaging	Het
Phlpp2	T	G	8: 110,652,474 (GRCm39)	V606G	possibly damaging	Het
Psmb5	T	C	14: 54,854,212 (GRCm39)	T89A	probably benign	Het
Ptpn9	A	G	9: 56,968,297 (GRCm39)	T546A	probably benign	Het
Qrfprl	T	A	6: 65,418,201 (GRCm39)	V123D	probably damaging	Het
Rabep2	A	G	7: 126,037,584 (GRCm39)	M146V	possibly damaging	Het
Rptn	G	A	3: 93,305,531 (GRCm39)	E955K	possibly damaging	Het
Samd3	G	T	10: 26,139,770 (GRCm39)	V301F	possibly damaging	Het
Sh2b1	C	A	7: 126,070,464 (GRCm39)	C380F	probably benign	Het
Shank1	A	G	7: 44,001,022 (GRCm39)	M914V	unknown	Het
Sox2	G	A	3: 34,704,791 (GRCm39)	R76H	probably damaging	Het
Stat5a	T	C	11: 100,771,143 (GRCm39)	F574S	probably damaging	Het
Tbx5	A	G	5: 119,975,064 (GRCm39)	E29G	probably benign	Het
Trpm5	A	C	7: 142,638,978 (GRCm39)	D264E	probably damaging	Het
Zfp442	T	C	2: 150,251,639 (GRCm39)	S88G	probably benign	Het
Zfp62	T	A	11: 49,108,155 (GRCm39)	F749I	possibly damaging	Het
Zfp677	T	A	17: 21,618,277 (GRCm39)	S445T	probably damaging	Het
Zfp979	A	C	4: 147,698,435 (GRCm39)	N91K	probably damaging	Het
Zfyve9	A	G	4: 108,542,192 (GRCm39)	V209A	possibly 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
R2242:Zic4	UTSW	9	91,260,706 (GRCm39)	intron	probably benign
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
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'- GCAAGAAACATTCGCACGTG -3'
(R):5'- TAGACCGGCGTAAACCAGAG -3'

Sequencing Primer
(F):5'- CATTCGCACGTGCACAC -3'
(R):5'- AAGCAGCAGCCCTGATACTGG -3'

Posted On

2019-11-26