Mutagenetix > Incidental Mutation

Incidental Mutation 'R4830:Zic1'

372745

Institutional Source

Beutler Lab

Gene Symbol

Zic1

Ensembl Gene

ENSMUSG00000032368

Gene Name

zinc finger protein of the cerebellum 1

Synonyms

odd-paired homolog

MMRRC Submission

042446-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R4830 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91240111-91247863 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 91244584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 358 (S358R)

Ref Sequence

ENSEMBL: ENSMUSP00000068858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034927] [ENSMUST00000065360] [ENSMUST00000173342]

AlphaFold

P46684

Predicted Effect

probably damaging
Transcript: ENSMUST00000034927
AA Change: S358R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034927
Gene: ENSMUSG00000032368
AA Change: S358R

Domain	Start	End	E-Value	Type
low complexity region	68	85	N/A	INTRINSIC
low complexity region	110	134	N/A	INTRINSIC
ZnF_C2H2	238	260	6.82e1	SMART
ZnF_C2H2	269	296	7.49e0	SMART
ZnF_C2H2	302	326	8.02e-5	SMART
ZnF_C2H2	332	356	1.58e-3	SMART
ZnF_C2H2	362	384	4.54e-4	SMART
low complexity region	386	400	N/A	INTRINSIC
low complexity region	403	427	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000065360
AA Change: S358R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000068858
Gene: ENSMUSG00000032368
AA Change: S358R

Domain	Start	End	E-Value	Type
low complexity region	68	85	N/A	INTRINSIC
low complexity region	110	134	N/A	INTRINSIC
ZnF_C2H2	238	260	6.82e1	SMART
ZnF_C2H2	269	296	7.49e0	SMART
ZnF_C2H2	302	326	8.02e-5	SMART
ZnF_C2H2	332	356	1.58e-3	SMART
ZnF_C2H2	362	384	4.54e-4	SMART
low complexity region	386	400	N/A	INTRINSIC
low complexity region	403	427	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173121

SMART Domains

Protein: ENSMUSP00000134006
Gene: ENSMUSG00000032368

Domain	Start	End	E-Value	Type
ZnF_C2H2	10	32	4.54e-4	SMART
low complexity region	34	48	N/A	INTRINSIC
low complexity region	51	75	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173342

Meta Mutation Damage Score

0.1192

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

97% (71/73)

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. Aberrant expression of this gene is seen in medulloblastoma, a childhood brain tumor. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 4, a related family member on chromosome 3. This gene encodes a transcription factor that can bind and transactivate the apolipoprotein E gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants show cerebellar hypoplasia with a missing lobule of the anterior lobe. Newborn pups suckle poorly. 50% die within one day of birth and almost all die within 3 weeks; longer survivors show marked ataxia and exhibit tonic convulsions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd3	C	A	3: 121,553,933 (GRCm39)	G643V	probably damaging	Het
Adamtsl1	A	G	4: 86,274,619 (GRCm39)	E1225G	probably damaging	Het
Agbl5	G	A	5: 31,048,059 (GRCm39)	R111H	probably damaging	Het
Ankle2	A	C	5: 110,389,879 (GRCm39)	K446Q	probably damaging	Het
Boc	A	C	16: 44,310,520 (GRCm39)	M800R	probably damaging	Het
Ccnt1	A	T	15: 98,441,332 (GRCm39)	N645K	probably damaging	Het
Cd93	G	A	2: 148,285,299 (GRCm39)	Q16*	probably null	Het
Cpsf4l	G	T	11: 113,600,328 (GRCm39)		probably benign	Het
Cuzd1	T	A	7: 130,919,783 (GRCm39)	D111V	probably damaging	Het
Dab2	T	C	15: 6,457,008 (GRCm39)	C232R	probably benign	Het
Dmpk	A	T	7: 18,821,453 (GRCm39)	Y237F	probably damaging	Het
Dnah6	T	A	6: 73,021,745 (GRCm39)	T3526S	possibly damaging	Het
Dock2	T	C	11: 34,223,767 (GRCm39)		probably null	Het
Dsp	G	A	13: 38,376,840 (GRCm39)	V1542I	probably benign	Het
Dst	T	A	1: 34,237,586 (GRCm39)		probably null	Het
Esd	T	C	14: 74,978,600 (GRCm39)	L54S	probably damaging	Het
Exd1	C	T	2: 119,350,807 (GRCm39)	A485T	probably benign	Het
Gm3604	A	T	13: 62,516,857 (GRCm39)	N500K	probably damaging	Het
Grhl2	T	A	15: 37,335,903 (GRCm39)		probably null	Het
Gsto1	C	T	19: 47,852,830 (GRCm39)	R222C	probably benign	Het
Inpp4a	T	A	1: 37,410,861 (GRCm39)	M343K	probably damaging	Het
Itpripl2	T	C	7: 118,090,280 (GRCm39)	Q93R	probably benign	Het
Jakmip2	G	A	18: 43,700,208 (GRCm39)	T450I	probably benign	Het
Kdm6b	A	T	11: 69,294,620 (GRCm39)	I1186N	unknown	Het
Kif1a	T	C	1: 92,948,931 (GRCm39)		probably null	Het
Klhl20	T	C	1: 160,925,946 (GRCm39)	K434R	probably benign	Het
Lemd3	T	C	10: 120,767,853 (GRCm39)	D697G	probably damaging	Het
Lipo3	A	G	19: 33,753,987 (GRCm39)	S383P	probably damaging	Het
Ltn1	C	A	16: 87,176,582 (GRCm39)	K1741N	probably damaging	Het
Lvrn	A	T	18: 47,038,418 (GRCm39)	T991S	probably damaging	Het
Macroh2a2	C	T	10: 61,575,132 (GRCm39)	D355N	possibly damaging	Het
Mast3	C	A	8: 71,241,559 (GRCm39)	R151L	possibly damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Myoz1	T	C	14: 20,705,377 (GRCm39)	K14E	probably damaging	Het
Neb	G	T	2: 52,082,532 (GRCm39)	Q5450K	probably damaging	Het
Nedd1	T	A	10: 92,522,120 (GRCm39)	N639I	probably damaging	Het
Nlrp4e	A	T	7: 23,036,165 (GRCm39)	N673Y	probably benign	Het
Nop53	C	T	7: 15,676,129 (GRCm39)	R190Q	probably damaging	Het
Notch4	T	C	17: 34,789,092 (GRCm39)	Y468H	probably damaging	Het
Obscn	T	C	11: 58,958,433 (GRCm39)	T3507A	probably damaging	Het
Opn5	T	C	17: 42,922,187 (GRCm39)	H5R	probably benign	Het
Or4l15	T	C	14: 50,197,681 (GRCm39)	N283D	probably damaging	Het
Patl1	T	C	19: 11,902,515 (GRCm39)	M349T	probably benign	Het
Phactr3	A	G	2: 177,925,811 (GRCm39)	N362S	probably damaging	Het
Pirb	C	T	7: 3,720,602 (GRCm39)	G299S	probably benign	Het
Rapgef5	G	A	12: 117,719,809 (GRCm39)	R579Q	probably damaging	Het
Rgl1	T	C	1: 152,430,081 (GRCm39)	D234G	probably benign	Het
Serpinb3a	C	T	1: 106,976,316 (GRCm39)	E122K	probably benign	Het
Slc22a15	T	C	3: 101,782,919 (GRCm39)		probably benign	Het
Slc25a12	A	T	2: 71,127,149 (GRCm39)	V344E	probably damaging	Het
Slc43a2	T	C	11: 75,434,119 (GRCm39)	L99P	probably damaging	Het
Smim27	G	T	4: 40,269,719 (GRCm39)		probably null	Het
Smtn	A	G	11: 3,470,736 (GRCm39)		probably benign	Het
Szt2	A	T	4: 118,226,445 (GRCm39)	Y3001N	unknown	Het
Tgfbr3	G	T	5: 107,257,585 (GRCm39)	P825T	probably damaging	Het
Tnpo3	T	C	6: 29,568,937 (GRCm39)	T472A	probably benign	Het
Trf	T	A	9: 103,105,114 (GRCm39)	D66V	probably damaging	Het
Vmn1r124	A	G	7: 20,993,624 (GRCm39)	C307R	probably damaging	Het
Vps13b	T	A	15: 35,452,370 (GRCm39)	F656Y	possibly damaging	Het

Other mutations in Zic1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02022:Zic1	APN	9	91,244,525 (GRCm39)	splice site	probably null
IGL02669:Zic1	APN	9	91,246,486 (GRCm39)	missense	possibly damaging	0.71
IGL02968:Zic1	APN	9	91,244,543 (GRCm39)	missense	probably damaging	1.00
PIT4812001:Zic1	UTSW	9	91,246,394 (GRCm39)	missense	probably damaging	1.00
R1493:Zic1	UTSW	9	91,246,809 (GRCm39)	missense	probably damaging	1.00
R1599:Zic1	UTSW	9	91,243,741 (GRCm39)	missense	probably benign	0.08
R1742:Zic1	UTSW	9	91,243,629 (GRCm39)	missense	probably damaging	0.98
R2158:Zic1	UTSW	9	91,246,946 (GRCm39)	missense	possibly damaging	0.73
R4587:Zic1	UTSW	9	91,246,875 (GRCm39)	missense	probably damaging	1.00
R4735:Zic1	UTSW	9	91,246,558 (GRCm39)	missense	possibly damaging	0.55
R5186:Zic1	UTSW	9	91,246,424 (GRCm39)	missense	probably damaging	1.00
R5702:Zic1	UTSW	9	91,246,133 (GRCm39)	missense	probably damaging	0.99
R6298:Zic1	UTSW	9	91,246,556 (GRCm39)	missense	probably damaging	1.00
R7221:Zic1	UTSW	9	91,246,785 (GRCm39)	missense	probably damaging	1.00
R7250:Zic1	UTSW	9	91,247,028 (GRCm39)	missense	probably damaging	0.99
R7764:Zic1	UTSW	9	91,247,745 (GRCm39)	intron	probably benign
R7806:Zic1	UTSW	9	91,247,024 (GRCm39)	missense	probably damaging	1.00
R7951:Zic1	UTSW	9	91,244,654 (GRCm39)	missense	probably damaging	0.99
R8408:Zic1	UTSW	9	91,246,847 (GRCm39)	missense	probably damaging	0.97
R8483:Zic1	UTSW	9	91,246,424 (GRCm39)	missense	probably damaging	1.00
R8754:Zic1	UTSW	9	91,244,701 (GRCm39)	intron	probably benign
R9185:Zic1	UTSW	9	91,246,542 (GRCm39)	missense	probably benign	0.26
R9269:Zic1	UTSW	9	91,246,373 (GRCm39)	missense	probably damaging	1.00
R9395:Zic1	UTSW	9	91,247,070 (GRCm39)	start codon destroyed	probably benign	0.21
R9579:Zic1	UTSW	9	91,246,790 (GRCm39)	missense	probably damaging	1.00
R9725:Zic1	UTSW	9	91,246,875 (GRCm39)	missense	probably damaging	1.00
RF011:Zic1	UTSW	9	91,246,383 (GRCm39)	missense	probably benign	0.00
Z1177:Zic1	UTSW	9	91,246,632 (GRCm39)	missense	probably damaging	1.00
Z1186:Zic1	UTSW	9	91,243,783 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGAAACCCTTTGCCTTTCCG -3'
(R):5'- CTCCAGATTTTAAGCTCGGGG -3'

Sequencing Primer
(F):5'- CCTCCTGCGGCTCCTGC -3'
(R):5'- CAACTTTTACGTTAGGGGAG -3'

Posted On

2016-03-01