Incidental Mutation 'R5702:Zic1'
| ID |
451749 |
| 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 |
043182-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.926)
|
| Stock # |
R5702 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
91240111-91247863 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91246133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 313
(F313S)
|
| 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: F313S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000034927
Gene: ENSMUSG00000032368
AA Change: F313S
| 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: F313S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000068858
Gene: ENSMUSG00000032368
AA Change: F313S
| 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 |
probably benign
Transcript: ENSMUST00000173342
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174611
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
G |
A |
5: 8,787,752 (GRCm39) |
S1018N |
probably benign |
Het |
| Adat1 |
G |
T |
8: 112,704,704 (GRCm39) |
T414K |
probably benign |
Het |
| Ahnak |
G |
T |
19: 8,979,204 (GRCm39) |
V163L |
probably damaging |
Het |
| Atf6b |
T |
C |
17: 34,869,978 (GRCm39) |
I288T |
possibly damaging |
Het |
| Blm |
A |
T |
7: 80,108,675 (GRCm39) |
V1323E |
probably benign |
Het |
| Brap |
T |
A |
5: 121,803,206 (GRCm39) |
L118Q |
probably damaging |
Het |
| C1qbp |
G |
A |
11: 70,869,570 (GRCm39) |
T171I |
probably benign |
Het |
| Ccdc136 |
C |
A |
6: 29,412,981 (GRCm39) |
H455Q |
probably damaging |
Het |
| Chd3 |
A |
T |
11: 69,252,261 (GRCm39) |
V47D |
possibly damaging |
Het |
| Cnot10 |
A |
C |
9: 114,458,078 (GRCm39) |
F143V |
probably damaging |
Het |
| Cnot8 |
T |
C |
11: 58,004,873 (GRCm39) |
S191P |
possibly damaging |
Het |
| Coro2b |
G |
A |
9: 62,333,859 (GRCm39) |
T345I |
probably damaging |
Het |
| Dennd1b |
T |
C |
1: 139,061,413 (GRCm39) |
I365T |
probably damaging |
Het |
| Dnah11 |
C |
A |
12: 118,077,642 (GRCm39) |
A1284S |
probably benign |
Het |
| Dock4 |
G |
A |
12: 40,787,490 (GRCm39) |
D802N |
probably benign |
Het |
| Dsg1a |
T |
C |
18: 20,469,922 (GRCm39) |
|
probably null |
Het |
| Elp3 |
C |
T |
14: 65,815,431 (GRCm39) |
R187Q |
probably damaging |
Het |
| Ercc3 |
G |
A |
18: 32,387,206 (GRCm39) |
R473Q |
probably damaging |
Het |
| F5 |
G |
A |
1: 164,022,116 (GRCm39) |
W1530* |
probably null |
Het |
| Fmnl1 |
T |
C |
11: 103,076,491 (GRCm39) |
I219T |
probably damaging |
Het |
| Gemin4 |
G |
A |
11: 76,101,663 (GRCm39) |
R1033C |
probably benign |
Het |
| Gm2381 |
T |
A |
7: 42,471,820 (GRCm39) |
I20F |
probably benign |
Het |
| Hmgcll1 |
A |
G |
9: 75,991,672 (GRCm39) |
M129V |
possibly damaging |
Het |
| Ltbp3 |
G |
T |
19: 5,797,849 (GRCm39) |
R496L |
probably benign |
Het |
| Mettl13 |
A |
G |
1: 162,373,549 (GRCm39) |
V234A |
probably benign |
Het |
| Minar1 |
G |
A |
9: 89,473,208 (GRCm39) |
A901V |
probably benign |
Het |
| Or1j4 |
A |
G |
2: 36,740,946 (GRCm39) |
D296G |
probably damaging |
Het |
| Pde7a |
A |
T |
3: 19,295,371 (GRCm39) |
C146* |
probably null |
Het |
| Pla2g4e |
T |
A |
2: 120,018,992 (GRCm39) |
N202Y |
possibly damaging |
Het |
| Plk5 |
G |
A |
10: 80,196,401 (GRCm39) |
|
probably null |
Het |
| Plscr1l1 |
G |
A |
9: 92,225,741 (GRCm39) |
|
probably null |
Het |
| Ptpn7 |
A |
G |
1: 135,061,582 (GRCm39) |
T15A |
probably benign |
Het |
| Rrn3 |
T |
A |
16: 13,631,130 (GRCm39) |
Y655* |
probably null |
Het |
| Scarb2 |
C |
T |
5: 92,599,255 (GRCm39) |
G355D |
probably damaging |
Het |
| Scd2 |
G |
A |
19: 44,286,502 (GRCm39) |
A111T |
possibly damaging |
Het |
| Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
| Smurf1 |
T |
C |
5: 144,838,021 (GRCm39) |
T57A |
possibly damaging |
Het |
| Spire2 |
C |
T |
8: 124,073,402 (GRCm39) |
P94S |
probably benign |
Het |
| Tex2 |
T |
C |
11: 106,435,221 (GRCm39) |
H237R |
possibly damaging |
Het |
| Vmn2r109 |
T |
C |
17: 20,774,407 (GRCm39) |
D316G |
probably benign |
Het |
| Zfp830 |
T |
A |
11: 82,655,800 (GRCm39) |
F201L |
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 |
|
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'- AAACCAGATCTGCCTGCCTC -3'
(R):5'- AGTCGTGCAACAAAACTTTCAG -3'
Sequencing Primer
(F):5'- TGCCTCCAGGAACCTGAG -3'
(R):5'- ATGCACGAGCTGGTCAC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation