Incidental Mutation 'IGL02157:Zic5'
ID |
282286 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zic5
|
Ensembl Gene |
ENSMUSG00000041703 |
Gene Name |
zinc finger protein of the cerebellum 5 |
Synonyms |
odd-paired related, 1700049L20Rik, Opr |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02157
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
122696572-122703127 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 122696924 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 564
(P564S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035754
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039118]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000039118
AA Change: P564S
|
SMART Domains |
Protein: ENSMUSP00000035754 Gene: ENSMUSG00000041703 AA Change: P564S
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
28 |
N/A |
INTRINSIC |
low complexity region
|
116 |
154 |
N/A |
INTRINSIC |
low complexity region
|
160 |
171 |
N/A |
INTRINSIC |
low complexity region
|
182 |
192 |
N/A |
INTRINSIC |
low complexity region
|
200 |
214 |
N/A |
INTRINSIC |
low complexity region
|
284 |
303 |
N/A |
INTRINSIC |
low complexity region
|
309 |
353 |
N/A |
INTRINSIC |
ZnF_C2H2
|
390 |
408 |
2.2e2 |
SMART |
ZnF_C2H2
|
417 |
444 |
2.14e0 |
SMART |
ZnF_C2H2
|
450 |
474 |
8.02e-5 |
SMART |
ZnF_C2H2
|
480 |
504 |
2.53e-2 |
SMART |
ZnF_C2H2
|
510 |
534 |
7.49e-5 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143084
|
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, and have been associated X-linked visceral heterotaxy and holoprosencephaly type 5. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 2, a related family member on chromosome 13. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mice display postnatal lethality and reduced life spans with exencephaly, abnormal cerebral cortex and diencephalon morphology, abnormal gait and posture, and impaired growth. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
T |
C |
5: 8,855,487 (GRCm39) |
|
probably benign |
Het |
Amotl1 |
A |
T |
9: 14,483,011 (GRCm39) |
|
probably benign |
Het |
Amph |
A |
T |
13: 19,288,401 (GRCm39) |
T297S |
possibly damaging |
Het |
Arhgap31 |
A |
G |
16: 38,444,263 (GRCm39) |
V198A |
probably damaging |
Het |
Bop1 |
T |
C |
15: 76,339,772 (GRCm39) |
D216G |
possibly damaging |
Het |
Cdh13 |
T |
C |
8: 119,232,410 (GRCm39) |
I38T |
possibly damaging |
Het |
Clmn |
T |
C |
12: 104,748,177 (GRCm39) |
T457A |
probably benign |
Het |
Clstn2 |
A |
C |
9: 97,423,928 (GRCm39) |
M279R |
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Fam83h |
A |
T |
15: 75,876,904 (GRCm39) |
V208E |
probably damaging |
Het |
Fer |
A |
G |
17: 64,445,894 (GRCm39) |
N785S |
probably benign |
Het |
Fnip1 |
T |
C |
11: 54,378,589 (GRCm39) |
L225P |
probably damaging |
Het |
Gbp11 |
C |
T |
5: 105,475,374 (GRCm39) |
V325M |
possibly damaging |
Het |
Glis1 |
A |
G |
4: 107,484,758 (GRCm39) |
T418A |
probably benign |
Het |
Hook2 |
C |
T |
8: 85,727,779 (GRCm39) |
|
probably benign |
Het |
Hoxa6 |
C |
A |
6: 52,185,171 (GRCm39) |
C145F |
possibly damaging |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Mbd5 |
T |
C |
2: 49,168,987 (GRCm39) |
V1156A |
probably benign |
Het |
Mon2 |
G |
A |
10: 122,849,377 (GRCm39) |
P1308S |
probably damaging |
Het |
Mta2 |
T |
A |
19: 8,924,613 (GRCm39) |
|
probably benign |
Het |
Nup188 |
T |
A |
2: 30,219,385 (GRCm39) |
L867* |
probably null |
Het |
Oca2 |
G |
A |
7: 55,974,545 (GRCm39) |
|
probably null |
Het |
Or13a22 |
T |
A |
7: 140,072,847 (GRCm39) |
C99S |
probably damaging |
Het |
Or6c88 |
A |
G |
10: 129,407,019 (GRCm39) |
E165G |
probably damaging |
Het |
Or7e166 |
T |
A |
9: 19,624,585 (GRCm39) |
V154E |
probably benign |
Het |
Plekhh2 |
A |
G |
17: 84,874,370 (GRCm39) |
|
probably benign |
Het |
Pramel22 |
A |
T |
4: 143,380,947 (GRCm39) |
C359S |
probably damaging |
Het |
Rhbdd3 |
T |
C |
11: 5,055,424 (GRCm39) |
|
probably benign |
Het |
Timeless |
T |
A |
10: 128,078,255 (GRCm39) |
V255E |
probably benign |
Het |
Tmt1b |
T |
G |
10: 128,796,486 (GRCm39) |
T108P |
possibly damaging |
Het |
Trh |
A |
T |
6: 92,219,948 (GRCm39) |
S123T |
probably benign |
Het |
Ugdh |
C |
T |
5: 65,580,035 (GRCm39) |
A252T |
probably damaging |
Het |
Zfp619 |
A |
G |
7: 39,184,288 (GRCm39) |
Y106C |
probably damaging |
Het |
|
Other mutations in Zic5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
Ezekiel
|
UTSW |
14 |
122,702,566 (GRCm39) |
missense |
unknown |
|
R0227:Zic5
|
UTSW |
14 |
122,697,073 (GRCm39) |
missense |
unknown |
|
R0646:Zic5
|
UTSW |
14 |
122,701,351 (GRCm39) |
missense |
unknown |
|
R1327:Zic5
|
UTSW |
14 |
122,697,191 (GRCm39) |
splice site |
probably benign |
|
R1387:Zic5
|
UTSW |
14 |
122,696,897 (GRCm39) |
missense |
unknown |
|
R1665:Zic5
|
UTSW |
14 |
122,696,939 (GRCm39) |
missense |
unknown |
|
R2020:Zic5
|
UTSW |
14 |
122,702,242 (GRCm39) |
missense |
unknown |
|
R2571:Zic5
|
UTSW |
14 |
122,696,890 (GRCm39) |
missense |
unknown |
|
R4241:Zic5
|
UTSW |
14 |
122,702,075 (GRCm39) |
missense |
probably benign |
0.03 |
R4610:Zic5
|
UTSW |
14 |
122,702,212 (GRCm39) |
missense |
probably damaging |
0.98 |
R4706:Zic5
|
UTSW |
14 |
122,696,969 (GRCm39) |
missense |
unknown |
|
R5496:Zic5
|
UTSW |
14 |
122,696,755 (GRCm39) |
missense |
unknown |
|
R6178:Zic5
|
UTSW |
14 |
122,696,748 (GRCm39) |
missense |
unknown |
|
R6189:Zic5
|
UTSW |
14 |
122,702,386 (GRCm39) |
missense |
unknown |
|
R6332:Zic5
|
UTSW |
14 |
122,697,161 (GRCm39) |
missense |
unknown |
|
R6485:Zic5
|
UTSW |
14 |
122,697,052 (GRCm39) |
missense |
unknown |
|
R6564:Zic5
|
UTSW |
14 |
122,696,833 (GRCm39) |
missense |
unknown |
|
R6677:Zic5
|
UTSW |
14 |
122,702,566 (GRCm39) |
missense |
unknown |
|
R6877:Zic5
|
UTSW |
14 |
122,697,100 (GRCm39) |
missense |
unknown |
|
R6977:Zic5
|
UTSW |
14 |
122,696,967 (GRCm39) |
small deletion |
probably benign |
|
R6977:Zic5
|
UTSW |
14 |
122,696,960 (GRCm39) |
missense |
unknown |
|
R6978:Zic5
|
UTSW |
14 |
122,696,967 (GRCm39) |
small deletion |
probably benign |
|
R6978:Zic5
|
UTSW |
14 |
122,696,960 (GRCm39) |
missense |
unknown |
|
R6996:Zic5
|
UTSW |
14 |
122,702,080 (GRCm39) |
missense |
probably benign |
0.02 |
R7713:Zic5
|
UTSW |
14 |
122,701,525 (GRCm39) |
missense |
unknown |
|
R8492:Zic5
|
UTSW |
14 |
122,702,474 (GRCm39) |
missense |
unknown |
|
R9612:Zic5
|
UTSW |
14 |
122,697,100 (GRCm39) |
missense |
unknown |
|
R9632:Zic5
|
UTSW |
14 |
122,701,787 (GRCm39) |
missense |
unknown |
|
R9688:Zic5
|
UTSW |
14 |
122,701,435 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2015-04-16 |