Mutagenetix > Incidental Mutation

Incidental Mutation 'R4722:Zic4'

354545

Institutional Source

Beutler Lab

Gene Symbol

Zic4

Ensembl Gene

ENSMUSG00000036972

Gene Name

zinc finger protein of the cerebellum 4

Synonyms

MMRRC Submission

041987-MU

Accession Numbers

Essential gene?

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

Stock #

R4722 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91247636-91271404 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 91261257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 164 (G164C)

Ref Sequence

ENSEMBL: ENSMUSP00000133958 (fasta)

Gene Model

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

AlphaFold

Q61467

Predicted Effect

probably damaging
Transcript: ENSMUST00000066384
AA Change: G171C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069568
Gene: ENSMUSG00000036972
AA Change: G171C

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 damaging
Transcript: ENSMUST00000172646
AA Change: G164C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134053
Gene: ENSMUSG00000036972
AA Change: G164C

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 damaging
Transcript: ENSMUST00000173054
AA Change: G164C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134364
Gene: ENSMUSG00000036972
AA Change: G164C

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

probably damaging
Transcript: ENSMUST00000173933
AA Change: G164C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133958
Gene: ENSMUSG00000036972
AA Change: G164C

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: ENSMUST00000174611

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195215

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

Meta Mutation Damage Score

0.7708

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

99% (68/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	G	T	12: 55,107,922 (GRCm39)	D92E	probably benign	Het
Abca17	A	G	17: 24,484,403 (GRCm39)	F1620L	probably damaging	Het
Abcf1	T	C	17: 36,268,933 (GRCm39)		probably benign	Het
Adtrp	T	C	13: 41,920,823 (GRCm39)	H248R	probably benign	Het
Aldh1b1	T	G	4: 45,803,472 (GRCm39)	F337V	probably damaging	Het
Amz2	C	T	11: 109,325,457 (GRCm39)	L272F	probably damaging	Het
Asic2	A	T	11: 81,859,009 (GRCm39)	M1K	probably null	Het
Avpr1a	T	A	10: 122,284,906 (GRCm39)	V66E	possibly damaging	Het
AW554918	C	A	18: 25,307,772 (GRCm39)	Y28*	probably null	Het
Cdc25b	C	T	2: 131,035,271 (GRCm39)	P343L	probably damaging	Het
Chd7	T	A	4: 8,822,445 (GRCm39)	I846K	probably damaging	Het
Dnajc13	A	T	9: 104,091,017 (GRCm39)	M688K	probably benign	Het
Dock2	T	A	11: 34,586,298 (GRCm39)	I505F	probably damaging	Het
Dpy19l4	A	G	4: 11,290,521 (GRCm39)	V290A	possibly damaging	Het
Dtl	G	T	1: 191,288,953 (GRCm39)	Q254K	possibly damaging	Het
Enpp2	T	G	15: 54,750,985 (GRCm39)	K265T	probably damaging	Het
Epm2aip1	TGTCGCCG	TG	9: 111,101,152 (GRCm39)		probably benign	Het
Fam133b	T	A	5: 3,593,949 (GRCm39)		probably null	Het
Fuom	A	G	7: 139,679,480 (GRCm39)		probably benign	Het
Fut9	T	C	4: 25,799,734 (GRCm39)		probably benign	Het
Gas8	T	A	8: 124,252,374 (GRCm39)	I171N	possibly damaging	Het
Gipc3	T	G	10: 81,177,129 (GRCm39)	D147A	probably benign	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm5591	T	C	7: 38,218,572 (GRCm39)	K767R	probably damaging	Het
Kctd8	G	A	5: 69,498,544 (GRCm39)	P34L	possibly damaging	Het
Kmt2b	G	A	7: 30,282,627 (GRCm39)	R403C	probably damaging	Het
Krt84	A	T	15: 101,436,846 (GRCm39)	I396N	probably damaging	Het
Lrrk2	C	A	15: 91,573,104 (GRCm39)	F217L	probably damaging	Het
Med27	T	A	2: 29,414,447 (GRCm39)	D290E	probably damaging	Het
Mical3	T	C	6: 121,015,486 (GRCm39)	Q184R	probably benign	Het
Mlxip	A	T	5: 123,585,265 (GRCm39)	K591M	probably benign	Het
Mutyh	T	A	4: 116,674,069 (GRCm39)	L233H	probably damaging	Het
Naip6	G	T	13: 100,443,580 (GRCm39)	H253N	possibly damaging	Het
Nynrin	A	G	14: 56,091,852 (GRCm39)	E56G	probably damaging	Het
Oip5	C	T	2: 119,443,492 (GRCm39)		probably null	Het
Or10a4	T	A	7: 106,696,777 (GRCm39)	I35N	possibly damaging	Het
Or10ak12	T	C	4: 118,666,146 (GRCm39)	N305S	probably damaging	Het
Or4c104	T	G	2: 88,586,356 (GRCm39)	H221P	possibly damaging	Het
Or4c15	T	C	2: 88,760,324 (GRCm39)	I112V	possibly damaging	Het
Or5p61	T	A	7: 107,758,445 (GRCm39)	I212F	probably benign	Het
Oxr1	T	C	15: 41,677,045 (GRCm39)	S132P	probably damaging	Het
Pcdhac1	C	T	18: 37,224,933 (GRCm39)	T582I	probably damaging	Het
Prl7a2	A	G	13: 27,844,858 (GRCm39)	I176T	probably damaging	Het
Rabgap1l	T	C	1: 160,169,734 (GRCm39)	T30A	possibly damaging	Het
Rapgef2	A	G	3: 78,976,480 (GRCm39)	M1294T	probably benign	Het
Rbm22	G	A	18: 60,697,463 (GRCm39)	R56H	probably damaging	Het
Rnmt	T	A	18: 68,438,952 (GRCm39)	N20K	probably damaging	Het
Scn7a	T	A	2: 66,531,228 (GRCm39)	T550S	possibly damaging	Het
Shank1	T	A	7: 43,962,638 (GRCm39)	Y117*	probably null	Het
Skint5	T	A	4: 113,751,052 (GRCm39)	K331I	unknown	Het
Slc5a1	A	G	5: 33,304,055 (GRCm39)	Y290C	possibly damaging	Het
Slfn14	T	C	11: 83,174,244 (GRCm39)	E249G	probably benign	Het
Smarcal1	T	C	1: 72,650,496 (GRCm39)	S544P	probably damaging	Het
St6galnac3	A	T	3: 153,117,166 (GRCm39)	Y186N	probably damaging	Het
Tbc1d1	T	C	5: 64,420,900 (GRCm39)	F346S	probably damaging	Het
Tdrd5	A	T	1: 156,129,945 (GRCm39)	I75K	probably benign	Het
Tnrc6a	T	C	7: 122,791,313 (GRCm39)	M1737T	possibly damaging	Het
Toe1	A	T	4: 116,662,397 (GRCm39)	Y283N	probably damaging	Het
Tubal3	G	T	13: 3,978,185 (GRCm39)	G34C	probably damaging	Het
Uxs1	A	G	1: 43,814,006 (GRCm39)	L77P	probably damaging	Het
Vmn1r212	T	C	13: 23,068,078 (GRCm39)	Y85C	probably damaging	Het
Yju2b	A	T	8: 84,985,439 (GRCm39)	C277S	probably benign	Het
Zdhhc4	A	G	5: 143,307,536 (GRCm39)	S162P	probably damaging	Het
Zfp712	A	G	13: 67,190,177 (GRCm39)	S117P	probably benign	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
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'- TGAACCTGACCATGAACCTC -3'
(R):5'- GCACTGAGTACTGACCTGTATGTG -3'

Sequencing Primer
(F):5'- TGACCATGAACCTCACCGC -3'
(R):5'- AGTACTGACCTGTATGTGTTCGTTTG -3'

Posted On

2015-10-21