Incidental Mutation 'R4587:Zic1'
| ID |
344180 |
| 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 |
042006-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
R4587 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
91240111-91247863 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91246875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 66
(S66P)
|
| 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: S66P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034927
Gene: ENSMUSG00000032368
AA Change: S66P
| 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: S66P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000068858
Gene: ENSMUSG00000032368
AA Change: S66P
| 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: ENSMUST00000170572
|
| 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
|
| Meta Mutation Damage Score |
0.0787 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
100% (47/47) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16a |
T |
C |
17: 35,320,063 (GRCm39) |
|
probably null |
Het |
| Adsl |
T |
C |
15: 80,851,968 (GRCm39) |
|
probably null |
Het |
| Arhgap32 |
T |
C |
9: 32,172,241 (GRCm39) |
S1674P |
probably benign |
Het |
| Cd244a |
T |
G |
1: 171,405,447 (GRCm39) |
D277E |
probably benign |
Het |
| Ceacam23 |
C |
T |
7: 17,620,149 (GRCm39) |
L18F |
possibly damaging |
Het |
| Ces1a |
A |
G |
8: 93,751,932 (GRCm39) |
Y401H |
probably damaging |
Het |
| Chd9 |
G |
T |
8: 91,763,134 (GRCm39) |
V2320F |
possibly damaging |
Het |
| Chrd |
A |
G |
16: 20,557,325 (GRCm39) |
E670G |
possibly damaging |
Het |
| Ckap2 |
A |
G |
8: 22,666,992 (GRCm39) |
S290P |
probably benign |
Het |
| Cluap1 |
T |
A |
16: 3,751,680 (GRCm39) |
|
probably null |
Het |
| Col15a1 |
C |
T |
4: 47,257,184 (GRCm39) |
T325M |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,230,636 (GRCm39) |
I971T |
possibly damaging |
Het |
| Dnah5 |
T |
C |
15: 28,304,745 (GRCm39) |
F1652S |
probably damaging |
Het |
| Dok6 |
T |
C |
18: 89,319,320 (GRCm39) |
Q312R |
probably benign |
Het |
| Glis1 |
C |
A |
4: 107,484,740 (GRCm39) |
H600N |
possibly damaging |
Het |
| Hivep1 |
A |
G |
13: 42,309,704 (GRCm39) |
D648G |
probably benign |
Het |
| Kif22 |
A |
T |
7: 126,632,052 (GRCm39) |
|
probably null |
Het |
| Lmtk3 |
A |
G |
7: 45,443,504 (GRCm39) |
D729G |
possibly damaging |
Het |
| Mapk8ip3 |
G |
A |
17: 25,123,761 (GRCm39) |
P587L |
probably damaging |
Het |
| Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
| Myt1l |
A |
G |
12: 29,960,800 (GRCm39) |
K1038E |
unknown |
Het |
| Nf1 |
T |
A |
11: 79,426,863 (GRCm39) |
|
probably null |
Het |
| Nom1 |
T |
C |
5: 29,656,163 (GRCm39) |
S843P |
possibly damaging |
Het |
| Or1e33 |
A |
G |
11: 73,738,045 (GRCm39) |
I302T |
probably benign |
Het |
| Pex14 |
A |
G |
4: 149,048,021 (GRCm39) |
|
probably benign |
Het |
| Ptcd1 |
T |
C |
5: 145,091,531 (GRCm39) |
T523A |
possibly damaging |
Het |
| Rasip1 |
T |
C |
7: 45,282,159 (GRCm39) |
V554A |
possibly damaging |
Het |
| Ric3 |
A |
T |
7: 108,653,570 (GRCm39) |
|
probably null |
Het |
| Skint4 |
G |
A |
4: 111,944,221 (GRCm39) |
C11Y |
probably damaging |
Het |
| Smr2 |
G |
A |
5: 88,256,631 (GRCm39) |
R103H |
probably benign |
Het |
| Sobp |
T |
C |
10: 43,034,020 (GRCm39) |
Y102C |
probably damaging |
Het |
| Taar7f |
T |
A |
10: 23,926,473 (GRCm39) |
F356I |
probably damaging |
Het |
| Tbcd |
T |
C |
11: 121,496,097 (GRCm39) |
V1044A |
possibly damaging |
Het |
| Tecpr1 |
C |
G |
5: 144,149,408 (GRCm39) |
V340L |
probably damaging |
Het |
| Tle3 |
A |
G |
9: 61,281,295 (GRCm39) |
I22V |
probably damaging |
Het |
| Trim30a |
G |
A |
7: 104,084,851 (GRCm39) |
R120* |
probably null |
Het |
| Trim72 |
A |
G |
7: 127,607,164 (GRCm39) |
D231G |
probably benign |
Het |
| Vmn2r59 |
T |
A |
7: 41,695,648 (GRCm39) |
N255Y |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,617,403 (GRCm39) |
T3002A |
probably damaging |
Het |
| Wnt7a |
A |
T |
6: 91,343,324 (GRCm39) |
|
probably null |
Het |
| Zfp51 |
C |
T |
17: 21,685,178 (GRCm39) |
Q598* |
probably null |
Het |
| Zfp617 |
A |
T |
8: 72,683,003 (GRCm39) |
N51I |
probably damaging |
Het |
| Zfp977 |
A |
T |
7: 42,229,614 (GRCm39) |
C304S |
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 |
|
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'- GAGAAACCTAGCCGCATCTG -3'
(R):5'- AGTATCCCGCGATTGGTGTG -3'
Sequencing Primer
(F):5'- CGTTAACCACGTTGGGCGAAG -3'
(R):5'- GGGTATCAACCCGTTCG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation