Incidental Mutation 'R2398:Zic2'
| ID |
248616 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zic2
|
| Ensembl Gene |
ENSMUSG00000061524 |
| Gene Name |
zinc finger protein of the cerebellum 2 |
| Synonyms |
odd-paired homolog, GENA 29, Ku |
| MMRRC Submission |
040365-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.902)
|
| Stock # |
R2398 (G1)
|
| Quality Score |
151 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
122712847-122717264 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 122716329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 422
(E422*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075283
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075888]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000075888
AA Change: E422*
|
| SMART Domains |
Protein: ENSMUSP00000075283
Gene: ENSMUSG00000061524
AA Change: E422*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
103 |
N/A |
INTRINSIC |
|
low complexity region
|
131 |
150 |
N/A |
INTRINSIC |
|
low complexity region
|
215 |
241 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
265 |
290 |
5.68e1 |
SMART |
|
ZnF_C2H2
|
299 |
326 |
6.92e0 |
SMART |
|
ZnF_C2H2
|
332 |
356 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
362 |
386 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
392 |
414 |
4.54e-4 |
SMART |
|
low complexity region
|
416 |
434 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
519 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137059
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177306
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (39/39) |
| 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. This protein functions as a transcriptional repressor and may regulate tissue specific expression of dopamine receptor D1. Expansion of an alanine repeat in the C-terminus of the encoded protein and other mutations in this gene cause holoprosencephaly type 5. Holoprosencephaly is the most common structural anomaly of the human brain. A polyhistidine tract polymorphism in this gene may be associated with increased risk of neural tube defects. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 5, a related family member on chromosome 13. [provided by RefSeq, Jul 2016]
PHENOTYPE: Defects in neurulation and forebrain development have been identified in both targeted and ENU induced homozygous mutants. Death occurs perinatally in the targeted mouse and during midgestation in the ENU mouse. Mice homozygous for a knock-down allele exhibit cognitive and social behavior defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
C |
2: 35,244,872 (GRCm39) |
D160G |
possibly damaging |
Het |
| Akr1c6 |
T |
C |
13: 4,499,035 (GRCm39) |
S208P |
probably benign |
Het |
| Ap3b2 |
A |
G |
7: 81,126,943 (GRCm39) |
F269S |
probably damaging |
Het |
| Ap3d1 |
G |
A |
10: 80,555,006 (GRCm39) |
Q440* |
probably null |
Het |
| Cog2 |
T |
C |
8: 125,256,665 (GRCm39) |
I137T |
probably benign |
Het |
| Cse1l |
A |
G |
2: 166,770,917 (GRCm39) |
Y369C |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,806,029 (GRCm39) |
N3357D |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,409,500 (GRCm39) |
T209A |
probably damaging |
Het |
| Gbp2 |
G |
A |
3: 142,339,123 (GRCm39) |
A392T |
probably benign |
Het |
| Grsf1 |
G |
A |
5: 88,821,695 (GRCm39) |
T123I |
probably damaging |
Het |
| Gzmc |
T |
A |
14: 56,470,228 (GRCm39) |
I90F |
possibly damaging |
Het |
| Hook2 |
T |
A |
8: 85,717,928 (GRCm39) |
N42K |
probably damaging |
Het |
| Hsp90aa1 |
T |
C |
12: 110,658,755 (GRCm39) |
M629V |
possibly damaging |
Het |
| Ifna14 |
T |
C |
4: 88,489,863 (GRCm39) |
D58G |
possibly damaging |
Het |
| Krtap4-8 |
T |
C |
11: 99,671,103 (GRCm39) |
|
probably benign |
Het |
| Mocs1 |
T |
C |
17: 49,759,862 (GRCm39) |
I381T |
probably damaging |
Het |
| Nbas |
A |
G |
12: 13,482,946 (GRCm39) |
T1408A |
probably damaging |
Het |
| Or6c219 |
A |
G |
10: 129,781,076 (GRCm39) |
F285S |
probably benign |
Het |
| Or8j3b |
T |
A |
2: 86,205,183 (GRCm39) |
D191V |
probably damaging |
Het |
| Orc1 |
C |
T |
4: 108,459,166 (GRCm39) |
T445I |
possibly damaging |
Het |
| Pdik1l |
T |
C |
4: 134,005,710 (GRCm39) |
K411E |
probably benign |
Het |
| Pias3 |
A |
G |
3: 96,611,129 (GRCm39) |
I443V |
probably benign |
Het |
| Psmd2 |
T |
C |
16: 20,478,222 (GRCm39) |
S536P |
possibly damaging |
Het |
| Rnf10 |
C |
T |
5: 115,385,332 (GRCm39) |
R554H |
probably benign |
Het |
| Smarcc2 |
C |
T |
10: 128,305,551 (GRCm39) |
T325I |
possibly damaging |
Het |
| Smchd1 |
C |
A |
17: 71,667,136 (GRCm39) |
C1752F |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,733,431 (GRCm39) |
|
probably benign |
Het |
| Svil |
A |
G |
18: 5,060,613 (GRCm39) |
|
probably null |
Het |
| Tex52 |
T |
C |
6: 128,356,540 (GRCm39) |
S78P |
probably damaging |
Het |
| Tmem63c |
T |
G |
12: 87,103,307 (GRCm39) |
V27G |
probably damaging |
Het |
| Ttc41 |
A |
G |
10: 86,549,250 (GRCm39) |
N148S |
possibly damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,785,921 (GRCm39) |
I695V |
probably damaging |
Het |
| Wipf2 |
T |
A |
11: 98,789,543 (GRCm39) |
|
probably null |
Het |
| Zc3h18 |
A |
G |
8: 123,140,605 (GRCm39) |
|
probably benign |
Het |
| Zfp804a |
T |
A |
2: 82,089,013 (GRCm39) |
N947K |
possibly damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,329,573 (GRCm39) |
|
probably null |
Het |
| Zmym4 |
A |
T |
4: 126,816,929 (GRCm39) |
D4E |
probably damaging |
Het |
|
| Other mutations in Zic2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00816:Zic2
|
APN |
14 |
122,715,971 (GRCm39) |
nonsense |
probably null |
|
|
IGL01607:Zic2
|
APN |
14 |
122,716,294 (GRCm39) |
splice site |
probably benign |
|
|
IGL02307:Zic2
|
APN |
14 |
122,714,046 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02311:Zic2
|
APN |
14 |
122,713,606 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02561:Zic2
|
APN |
14 |
122,715,957 (GRCm39) |
nonsense |
probably null |
|
|
IGL02982:Zic2
|
APN |
14 |
122,715,979 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0001:Zic2
|
UTSW |
14 |
122,716,369 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0027:Zic2
|
UTSW |
14 |
122,713,755 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0136:Zic2
|
UTSW |
14 |
122,713,953 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0310:Zic2
|
UTSW |
14 |
122,713,776 (GRCm39) |
small deletion |
probably benign |
|
|
R0418:Zic2
|
UTSW |
14 |
122,713,776 (GRCm39) |
small deletion |
probably benign |
|
|
R0420:Zic2
|
UTSW |
14 |
122,713,776 (GRCm39) |
small deletion |
probably benign |
|
|
R0421:Zic2
|
UTSW |
14 |
122,713,776 (GRCm39) |
small deletion |
probably benign |
|
|
R0518:Zic2
|
UTSW |
14 |
122,713,776 (GRCm39) |
small deletion |
probably benign |
|
|
R0520:Zic2
|
UTSW |
14 |
122,713,776 (GRCm39) |
small deletion |
probably benign |
|
|
R0521:Zic2
|
UTSW |
14 |
122,713,776 (GRCm39) |
small deletion |
probably benign |
|
|
R0628:Zic2
|
UTSW |
14 |
122,713,776 (GRCm39) |
small deletion |
probably benign |
|
|
R1733:Zic2
|
UTSW |
14 |
122,716,359 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1757:Zic2
|
UTSW |
14 |
122,716,031 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5323:Zic2
|
UTSW |
14 |
122,713,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5381:Zic2
|
UTSW |
14 |
122,713,227 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6930:Zic2
|
UTSW |
14 |
122,713,869 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7223:Zic2
|
UTSW |
14 |
122,713,503 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8750:Zic2
|
UTSW |
14 |
122,714,129 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8852:Zic2
|
UTSW |
14 |
122,713,530 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8860:Zic2
|
UTSW |
14 |
122,713,530 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1088:Zic2
|
UTSW |
14 |
122,716,087 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGTACCACTGCAGTAGCC -3'
(R):5'- CCATTCATTGAAGTTGGAGGAGAG -3'
Sequencing Primer
(F):5'- ACTGCAGTAGCCGGGAG -3'
(R):5'- GCTATGGCCTCCGGTTGTC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation