Incidental Mutation 'IGL02022:Zic1'
ID |
183998 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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)
|
Stock # |
IGL02022
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
91240111-91247863 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to A
at 91244525 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133974
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034927]
[ENSMUST00000065360]
[ENSMUST00000173342]
|
AlphaFold |
P46684 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034927
AA Change: R378L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000034927 Gene: ENSMUSG00000032368 AA Change: R378L
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: R378L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000068858 Gene: ENSMUSG00000032368 AA Change: R378L
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 null
Transcript: ENSMUST00000173342
|
Coding Region Coverage |
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J03Rik |
T |
C |
5: 146,120,358 (GRCm39) |
Y160C |
probably damaging |
Het |
Abi3bp |
T |
C |
16: 56,412,999 (GRCm39) |
S314P |
probably damaging |
Het |
Abra |
T |
C |
15: 41,732,802 (GRCm39) |
H88R |
probably benign |
Het |
Bsn |
A |
G |
9: 107,987,617 (GRCm39) |
|
probably benign |
Het |
Chd3 |
A |
C |
11: 69,251,886 (GRCm39) |
C123G |
probably damaging |
Het |
Clca3b |
A |
C |
3: 144,547,171 (GRCm39) |
|
probably null |
Het |
Cnot7 |
G |
T |
8: 40,952,386 (GRCm39) |
P190T |
probably damaging |
Het |
Cps1 |
A |
T |
1: 67,212,031 (GRCm39) |
|
probably benign |
Het |
Dennd2d |
A |
G |
3: 106,407,220 (GRCm39) |
T424A |
probably benign |
Het |
Dnhd1 |
C |
T |
7: 105,327,516 (GRCm39) |
R54C |
probably damaging |
Het |
Efhd1 |
G |
A |
1: 87,192,334 (GRCm39) |
E55K |
probably damaging |
Het |
Ep300 |
T |
C |
15: 81,495,638 (GRCm39) |
|
probably benign |
Het |
Ezh1 |
G |
T |
11: 101,090,166 (GRCm39) |
H529Q |
probably damaging |
Het |
Klhl3 |
A |
T |
13: 58,198,878 (GRCm39) |
S201T |
possibly damaging |
Het |
Krt1c |
A |
G |
15: 101,724,953 (GRCm39) |
F219S |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 41,172,172 (GRCm39) |
D751N |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,838,629 (GRCm39) |
C1848* |
probably null |
Het |
Macf1 |
A |
G |
4: 123,284,842 (GRCm39) |
|
probably null |
Het |
Med10 |
T |
C |
13: 69,961,819 (GRCm39) |
|
probably benign |
Het |
Msh4 |
T |
A |
3: 153,592,593 (GRCm39) |
T170S |
probably damaging |
Het |
Or52n3 |
T |
C |
7: 104,530,141 (GRCm39) |
C76R |
probably damaging |
Het |
Pelp1 |
T |
A |
11: 70,297,153 (GRCm39) |
|
probably benign |
Het |
Prex2 |
G |
A |
1: 11,367,963 (GRCm39) |
V1595I |
probably benign |
Het |
Prpf8 |
C |
T |
11: 75,392,660 (GRCm39) |
R1617* |
probably null |
Het |
Rabep1 |
T |
A |
11: 70,825,385 (GRCm39) |
L684Q |
probably damaging |
Het |
Slc22a4 |
G |
A |
11: 53,874,435 (GRCm39) |
|
probably benign |
Het |
Smox |
T |
C |
2: 131,362,037 (GRCm39) |
F153S |
probably damaging |
Het |
Tma16 |
A |
G |
8: 66,939,062 (GRCm39) |
|
probably null |
Het |
Unc80 |
G |
T |
1: 66,665,675 (GRCm39) |
R1814L |
possibly damaging |
Het |
Vmn2r108 |
C |
T |
17: 20,691,987 (GRCm39) |
D179N |
possibly damaging |
Het |
Washc2 |
A |
G |
6: 116,236,126 (GRCm39) |
E1199G |
probably benign |
Het |
|
Other mutations in Zic1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2014-05-07 |