Mutagenetix > Incidental Mutation

Incidental Mutation 'R1742:Zic1'

200435

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

039774-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R1742 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91240111-91247863 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91243629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 446 (Y446C)

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: Y446C

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034927
Gene: ENSMUSG00000032368
AA Change: Y446C

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: Y446C

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000068858
Gene: ENSMUSG00000032368
AA Change: Y446C

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.7%

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. 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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankhd1	C	A	18: 36,758,318 (GRCm39)	A1004E	probably damaging	Het
Arfgef2	A	G	2: 166,708,900 (GRCm39)	S1071G	probably damaging	Het
Arhgef5	T	A	6: 43,257,133 (GRCm39)	I1228N	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bptf	A	G	11: 107,001,777 (GRCm39)	V445A	probably damaging	Het
Btf3	C	T	13: 98,452,804 (GRCm39)	M1I	probably null	Het
Bves	C	T	10: 45,223,961 (GRCm39)	T207M	probably damaging	Het
Ccdc171	T	A	4: 83,599,521 (GRCm39)	S779T	probably damaging	Het
Ccdc54	T	C	16: 50,410,601 (GRCm39)	K222E	possibly damaging	Het
Cebpe	A	G	14: 54,949,057 (GRCm39)	V120A	probably benign	Het
Clhc1	T	A	11: 29,507,647 (GRCm39)		probably null	Het
Col22a1	C	T	15: 71,673,762 (GRCm39)	G985S	unknown	Het
Col6a3	T	A	1: 90,741,516 (GRCm39)	I639F	probably damaging	Het
Cryga	C	A	1: 65,142,280 (GRCm39)	V38L	probably benign	Het
Dll3	T	C	7: 27,993,848 (GRCm39)	T530A	probably benign	Het
Dnaaf9	A	T	2: 130,582,315 (GRCm39)		probably null	Het
Dnah7a	G	A	1: 53,495,843 (GRCm39)	P3205S	probably benign	Het
Dpp10	T	A	1: 123,372,935 (GRCm39)	Y224F	probably damaging	Het
Eif1ad10	C	T	12: 88,216,453 (GRCm39)	D140N	unknown	Het
Fcrl2	T	C	3: 87,166,350 (GRCm39)	T142A	possibly damaging	Het
Fyttd1	C	T	16: 32,725,923 (GRCm39)	R175*	probably null	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gpr33	T	C	12: 52,071,045 (GRCm39)		probably null	Het
Gse1	T	A	8: 121,293,689 (GRCm39)	V205E	probably damaging	Het
Herc4	C	A	10: 63,123,728 (GRCm39)	N461K	probably benign	Het
Ifi206	G	A	1: 173,309,537 (GRCm39)	T153I	probably benign	Het
Iqca1	T	C	1: 90,025,773 (GRCm39)	I341V	probably benign	Het
Itsn1	T	G	16: 91,613,847 (GRCm39)		probably null	Het
Kcnk5	T	A	14: 20,191,925 (GRCm39)	Y412F	probably benign	Het
Lemd1	T	A	1: 132,156,036 (GRCm39)	I26K	probably damaging	Het
Lipc	A	T	9: 70,727,811 (GRCm39)	L12Q	probably damaging	Het
Lrrtm1	C	A	6: 77,221,074 (GRCm39)	P177Q	probably damaging	Het
Mcph1	G	A	8: 18,657,379 (GRCm39)	G73R	probably benign	Het
Msantd5f6	T	C	4: 73,319,447 (GRCm39)	D99G	probably damaging	Het
Myh11	A	T	16: 14,037,908 (GRCm39)	L899Q	probably damaging	Het
Myo18a	G	T	11: 77,732,293 (GRCm39)	R822L	probably damaging	Het
Nav3	T	C	10: 109,605,074 (GRCm39)	T1000A	probably benign	Het
Nox4	T	C	7: 86,945,026 (GRCm39)	V94A	possibly damaging	Het
Or10ag53	T	A	2: 87,083,122 (GRCm39)	N280K	probably benign	Het
Or4c123	G	T	2: 89,126,768 (GRCm39)	P282H	probably damaging	Het
Or7g32	A	G	9: 19,389,337 (GRCm39)	S67P	probably damaging	Het
Oxr1	T	C	15: 41,713,955 (GRCm39)	L679P	probably damaging	Het
Pcdhb17	T	C	18: 37,619,629 (GRCm39)	I473T	probably damaging	Het
Pgbd5	T	A	8: 125,107,046 (GRCm39)	E165D	probably damaging	Het
Pgpep1l	A	T	7: 67,886,802 (GRCm39)	V169D	probably damaging	Het
Phf12	C	T	11: 77,900,312 (GRCm39)	T136I	probably benign	Het
Pif1	T	A	9: 65,495,132 (GRCm39)	M14K	probably benign	Het
Pigr	A	G	1: 130,772,823 (GRCm39)	E347G	probably damaging	Het
Plekha3	G	A	2: 76,513,223 (GRCm39)	E103K	possibly damaging	Het
Ptgs2	A	G	1: 149,980,150 (GRCm39)	I363V	probably damaging	Het
Rasl11a	T	A	5: 146,783,805 (GRCm39)		probably null	Het
Recql	T	C	6: 142,310,298 (GRCm39)	T511A	probably damaging	Het
Rgl2	T	A	17: 34,156,197 (GRCm39)		probably null	Het
Rpp25l	T	C	4: 41,712,763 (GRCm39)	Y4C	probably damaging	Het
Sass6	T	G	3: 116,401,126 (GRCm39)	C156G	probably damaging	Het
Sgta	T	G	10: 80,882,111 (GRCm39)	N288T	probably damaging	Het
Slco1a4	T	A	6: 141,770,771 (GRCm39)	T282S	probably benign	Het
Smad4	T	C	18: 73,808,968 (GRCm39)	R100G	probably damaging	Het
Sox8	C	T	17: 25,786,915 (GRCm39)	V263M	probably damaging	Het
Sp8	A	G	12: 118,813,552 (GRCm39)	H469R	probably benign	Het
Spata1	A	T	3: 146,175,378 (GRCm39)		probably null	Het
Taar7a	G	A	10: 23,869,117 (GRCm39)	S88F	probably damaging	Het
Tnks2	T	C	19: 36,853,661 (GRCm39)	L749S	probably damaging	Het
Tollip	C	A	7: 141,446,592 (GRCm39)	R19L	probably damaging	Het
Tox2	G	A	2: 163,067,446 (GRCm39)	R55H	probably benign	Het
Vmn2r27	T	C	6: 124,177,636 (GRCm39)	E456G	possibly damaging	Het
Vmn2r77	T	A	7: 86,444,543 (GRCm39)	N65K	probably benign	Het
Vwf	T	C	6: 125,644,513 (GRCm39)	M2456T	probably benign	Het
Zfp526	A	G	7: 24,923,939 (GRCm39)	N66S	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
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
R4830:Zic1	UTSW	9	91,244,584 (GRCm39)	missense	probably damaging	1.00
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'- AACCTAAAGGCTTGCTGCCTCCTC -3'
(R):5'- TCAGGTCCATGAGTCCTCTTCTCAG -3'

Sequencing Primer
(F):5'- CGGCAGATTTaaaaacaaaatcaaac -3'
(R):5'- TCAGGGCTCACAGCCTTC -3'

Posted On

2014-05-23