Incidental Mutation 'R8483:Zic1'
ID |
657628 |
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 |
067927-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.934)
|
Stock # |
R8483 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
91240111-91247863 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 91246424 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 216
(Y216C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068858
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034927]
[ENSMUST00000065360]
[ENSMUST00000172646]
[ENSMUST00000173054]
[ENSMUST00000173342]
|
AlphaFold |
P46684 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034927
AA Change: Y216C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034927 Gene: ENSMUSG00000032368 AA Change: Y216C
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: Y216C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000068858 Gene: ENSMUSG00000032368 AA Change: Y216C
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: ENSMUST00000172646
|
SMART Domains |
Protein: ENSMUSP00000134053 Gene: ENSMUSG00000036972
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: ENSMUST00000172978
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173054
|
SMART Domains |
Protein: ENSMUSP00000134364 Gene: ENSMUSG00000036972
Domain | Start | End | E-Value | Type |
PDB:2EJ4|A
|
122 |
181 |
3e-16 |
PDB |
Blast:ZnF_C2H2
|
128 |
151 |
5e-9 |
BLAST |
|
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 |
noncoding transcript
Transcript: ENSMUST00000174611
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173342
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (54/54) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ang6 |
A |
G |
14: 44,239,285 (GRCm39) |
*148Q |
probably null |
Het |
Ankrd28 |
A |
T |
14: 31,457,048 (GRCm39) |
|
probably null |
Het |
Ark2c |
G |
A |
18: 77,556,034 (GRCm39) |
A174V |
probably benign |
Het |
Aurkc |
T |
A |
7: 6,999,664 (GRCm39) |
L57* |
probably null |
Het |
Brca1 |
T |
C |
11: 101,416,802 (GRCm39) |
D444G |
probably damaging |
Het |
Cd200l1 |
T |
A |
16: 45,240,235 (GRCm39) |
I134F |
possibly damaging |
Het |
Cdhr4 |
T |
C |
9: 107,872,198 (GRCm39) |
V204A |
probably damaging |
Het |
Chd7 |
A |
G |
4: 8,822,412 (GRCm39) |
D835G |
possibly damaging |
Het |
Cux1 |
C |
A |
5: 136,303,944 (GRCm39) |
A1328S |
possibly damaging |
Het |
Cwc27 |
G |
T |
13: 104,940,772 (GRCm39) |
P196T |
probably benign |
Het |
Cwc27 |
C |
A |
13: 104,940,776 (GRCm39) |
L194F |
possibly damaging |
Het |
Cyp39a1 |
A |
G |
17: 43,993,898 (GRCm39) |
D186G |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,536,253 (GRCm39) |
I3677V |
probably benign |
Het |
Dnmt3b |
A |
G |
2: 153,516,306 (GRCm39) |
D477G |
probably damaging |
Het |
Drc1 |
A |
T |
5: 30,507,785 (GRCm39) |
Y269F |
probably benign |
Het |
Esco2 |
T |
C |
14: 66,069,118 (GRCm39) |
H64R |
probably benign |
Het |
Gcnt3 |
A |
T |
9: 69,941,959 (GRCm39) |
V203E |
probably damaging |
Het |
Gpam |
A |
C |
19: 55,077,374 (GRCm39) |
V139G |
probably damaging |
Het |
Gsta3 |
G |
A |
1: 21,333,063 (GRCm39) |
S104N |
probably damaging |
Het |
Hsd17b13 |
C |
T |
5: 104,125,049 (GRCm39) |
G45R |
probably damaging |
Het |
Ighe |
T |
C |
12: 113,235,808 (GRCm39) |
M173V |
|
Het |
Ipo5 |
A |
G |
14: 121,183,560 (GRCm39) |
E1046G |
probably benign |
Het |
Kank4 |
T |
A |
4: 98,659,615 (GRCm39) |
Q821L |
probably damaging |
Het |
Kat6b |
G |
T |
14: 21,719,461 (GRCm39) |
S1271I |
probably damaging |
Het |
Klhl1 |
A |
G |
14: 96,619,370 (GRCm39) |
S176P |
probably benign |
Het |
Lbhd2 |
G |
A |
12: 111,378,190 (GRCm39) |
D86N |
probably damaging |
Het |
Lrp1 |
G |
A |
10: 127,394,519 (GRCm39) |
R2565C |
probably damaging |
Het |
Lrrc55 |
A |
T |
2: 85,022,295 (GRCm39) |
C299S |
probably benign |
Het |
Mtres1 |
T |
C |
10: 43,408,915 (GRCm39) |
Y76C |
probably benign |
Het |
Nprl3 |
T |
A |
11: 32,213,083 (GRCm39) |
S44C |
probably damaging |
Het |
Nucks1 |
A |
G |
1: 131,855,829 (GRCm39) |
H86R |
possibly damaging |
Het |
Or14j3 |
A |
G |
17: 37,900,866 (GRCm39) |
V126A |
possibly damaging |
Het |
Or4s2 |
A |
G |
2: 88,473,678 (GRCm39) |
D189G |
probably benign |
Het |
Or6c219 |
T |
A |
10: 129,780,998 (GRCm39) |
H311L |
probably benign |
Het |
Ovgp1 |
T |
A |
3: 105,894,311 (GRCm39) |
|
probably benign |
Het |
Oxa1l |
G |
A |
14: 54,606,001 (GRCm39) |
|
probably null |
Het |
Patj |
C |
A |
4: 98,312,539 (GRCm39) |
H292Q |
probably damaging |
Het |
Pcdha9 |
A |
G |
18: 37,131,636 (GRCm39) |
N235S |
probably benign |
Het |
Pcdhb12 |
A |
T |
18: 37,570,590 (GRCm39) |
T579S |
possibly damaging |
Het |
Pde3b |
A |
G |
7: 114,118,803 (GRCm39) |
I647M |
probably benign |
Het |
Pdp1 |
T |
C |
4: 11,961,982 (GRCm39) |
R110G |
probably benign |
Het |
Prb1a |
T |
G |
6: 132,185,398 (GRCm39) |
R78S |
unknown |
Het |
Prmt8 |
A |
C |
6: 127,680,976 (GRCm39) |
|
probably null |
Het |
Semp2l2a |
T |
A |
8: 13,888,229 (GRCm39) |
|
probably benign |
Het |
Slc35f2 |
T |
A |
9: 53,716,985 (GRCm39) |
Y249* |
probably null |
Het |
Smok2b |
A |
C |
17: 13,453,908 (GRCm39) |
M23L |
probably benign |
Het |
Sra1 |
A |
G |
18: 36,800,879 (GRCm39) |
I153T |
probably benign |
Het |
Stk38l |
T |
A |
6: 146,660,017 (GRCm39) |
H16Q |
possibly damaging |
Het |
Tent5c |
T |
A |
3: 100,379,784 (GRCm39) |
H324L |
probably damaging |
Het |
Unc80 |
T |
C |
1: 66,732,869 (GRCm39) |
S3073P |
possibly damaging |
Het |
Usp24 |
T |
C |
4: 106,230,953 (GRCm39) |
I844T |
probably damaging |
Het |
V1ra8 |
A |
T |
6: 90,179,916 (GRCm39) |
I40F |
probably benign |
Het |
Vmn2r88 |
T |
A |
14: 51,650,530 (GRCm39) |
M81K |
possibly damaging |
Het |
Vps8 |
T |
C |
16: 21,393,763 (GRCm39) |
I1182T |
probably damaging |
Het |
Wdr54 |
A |
G |
6: 83,130,591 (GRCm39) |
V181A |
probably benign |
Het |
Zbed4 |
A |
G |
15: 88,665,990 (GRCm39) |
Y686C |
probably damaging |
Het |
Zfyve28 |
T |
C |
5: 34,393,480 (GRCm39) |
N62S |
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 |
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 |
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'- TTGAGGTTCTCTGAACGCGC -3'
(R):5'- TTCGCCCAACGTGGTTAAC -3'
Sequencing Primer
(F):5'- GTTCTCTGAACGCGCGAAAAC -3'
(R):5'- TTAACGGGCAGATGCGGC -3'
|
Posted On |
2021-01-18 |