Mutagenetix > Incidental Mutation

Incidental Mutation 'R7951:Zic1'

649570

Institutional Source

Beutler Lab

Gene Symbol

Zic1

Ensembl Gene

ENSMUSG00000032368

Gene Name

zinc finger protein of the cerebellum 1

Synonyms

odd-paired homolog

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R7951 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91240111-91247863 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91244654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 335 (E335G)

Ref Sequence

ENSEMBL: ENSMUSP00000034927 (fasta)

Gene Model

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

AlphaFold

P46684

Predicted Effect

probably damaging
Transcript: ENSMUST00000034927
AA Change: E335G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034927
Gene: ENSMUSG00000032368
AA Change: E335G

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: E335G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000068858
Gene: ENSMUSG00000032368
AA Change: E335G

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 benign
Transcript: ENSMUST00000173342

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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. 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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	G	A	17: 85,004,957 (GRCm39)	G575S	probably damaging	Het
Acacb	G	T	5: 114,326,401 (GRCm39)	A256S	probably damaging	Het
Adamts20	T	C	15: 94,238,947 (GRCm39)	D757G	probably damaging	Het
Adgra3	A	G	5: 50,121,126 (GRCm39)	V834A	probably damaging	Het
Adgrv1	A	G	13: 81,711,689 (GRCm39)	S1096P	probably damaging	Het
Bmal2	T	G	6: 146,714,732 (GRCm39)	L135R	probably damaging	Het
Cct4	T	C	11: 22,940,868 (GRCm39)	S39P	probably benign	Het
Cep97	T	C	16: 55,725,820 (GRCm39)	N689S	probably benign	Het
Col11a1	T	A	3: 113,888,864 (GRCm39)	D302E	unknown	Het
D5Ertd579e	C	T	5: 36,772,517 (GRCm39)	S626N	probably benign	Het
Dido1	A	T	2: 180,312,674 (GRCm39)	C1074S	probably benign	Het
Dnah17	C	T	11: 118,009,592 (GRCm39)	R660H	possibly damaging	Het
Dnhd1	A	T	7: 105,327,211 (GRCm39)	D720V	probably damaging	Het
Dst	T	C	1: 34,240,267 (GRCm39)	M1872T	probably benign	Het
Enpp2	T	C	15: 54,783,089 (GRCm39)	I13M	probably benign	Het
Fcho1	A	G	8: 72,164,920 (GRCm39)	F454L	probably benign	Het
Gad2	A	G	2: 22,513,499 (GRCm39)	K43R	probably damaging	Het
Galnt3	C	T	2: 65,928,186 (GRCm39)	E237K	probably benign	Het
Hey1	A	G	3: 8,729,932 (GRCm39)	L175P	possibly damaging	Het
Jade1	G	A	3: 41,546,190 (GRCm39)	V72M	probably damaging	Het
Klhl28	G	A	12: 65,003,875 (GRCm39)	R213W	probably damaging	Het
Kprp	C	T	3: 92,731,637 (GRCm39)	R471H	unknown	Het
Lmtk3	A	T	7: 45,435,030 (GRCm39)	M27L	probably benign	Het
Lrp1	A	T	10: 127,374,933 (GRCm39)	Y4508*	probably null	Het
Lypd5	T	C	7: 24,051,060 (GRCm39)	V57A	probably damaging	Het
Mapk9	T	G	11: 49,754,422 (GRCm39)	S58R	probably damaging	Het
Mycbp2	T	C	14: 103,452,898 (GRCm39)	K1661R	probably damaging	Het
Myl2	C	T	5: 122,244,750 (GRCm39)	A140V	probably benign	Het
Nadk	G	T	4: 155,661,524 (GRCm39)	D17Y	probably benign	Het
Nckap1l	T	C	15: 103,381,542 (GRCm39)	Y428H	probably damaging	Het
Nt5c1a	T	C	4: 123,105,978 (GRCm39)	F144S	probably benign	Het
Ofcc1	C	T	13: 40,433,781 (GRCm39)	R108Q	probably benign	Het
Or4c100	A	T	2: 88,356,148 (GRCm39)	T74S	probably damaging	Het
Or5d14	A	T	2: 87,880,601 (GRCm39)	Y122*	probably null	Het
Or5d40	G	T	2: 88,015,616 (GRCm39)	V132F	probably damaging	Het
Pabpc4	T	G	4: 123,177,532 (GRCm39)	V42G	probably damaging	Het
Prrc2a	A	T	17: 35,379,477 (GRCm39)	N311K	unknown	Het
Rcbtb2	A	T	14: 73,403,992 (GRCm39)	R197*	probably null	Het
Rfc4	A	G	16: 22,934,135 (GRCm39)	I222T	probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,119 (GRCm39)		probably benign	Het
Rufy1	T	C	11: 50,321,736 (GRCm39)	D66G	probably benign	Het
Rxfp1	A	T	3: 79,559,682 (GRCm39)	C380S	probably damaging	Het
Scn5a	A	G	9: 119,358,145 (GRCm39)	C699R	probably damaging	Het
Syngap1	G	T	17: 27,185,942 (GRCm39)	A1291S	possibly damaging	Het
Tab1	C	A	15: 80,043,058 (GRCm39)	N417K	probably damaging	Het
Tenm3	A	G	8: 48,763,738 (GRCm39)	V772A	possibly damaging	Het
Tmem25	T	A	9: 44,706,790 (GRCm39)	K285I	probably damaging	Het
Tnks2	A	G	19: 36,839,555 (GRCm39)	N51D		Het
Trpm7	G	A	2: 126,655,188 (GRCm39)	T1250I	possibly damaging	Het
Trpv4	T	C	5: 114,760,871 (GRCm39)	D820G	probably benign	Het
Tsg101	T	A	7: 46,540,891 (GRCm39)	I289L	probably benign	Het
Tubgcp2	C	A	7: 139,587,893 (GRCm39)	R244L	possibly damaging	Het
Vmn1r173	C	A	7: 23,402,680 (GRCm39)	T305K	unknown	Het
Vmn1r53	A	T	6: 90,201,132 (GRCm39)	I64K	possibly damaging	Het
Zfp444	T	C	7: 6,191,185 (GRCm39)	V122A	probably benign	Het
Zfp599	A	G	9: 22,160,764 (GRCm39)	L467P	probably 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
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
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'- AGAGTGAAACCCTTTGCCTTTCC -3'
(R):5'- TAGTTCCACTACAGCTGCACC -3'

Sequencing Primer
(F):5'- AAAGGCTCTCGCTCGAAG -3'
(R):5'- GTTCCACTACAGCTGCACCAATTTAC -3'

Posted On

2020-09-15