Incidental Mutation 'R1327:Zic5'
| ID |
157255 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zic5
|
| Ensembl Gene |
ENSMUSG00000041703 |
| Gene Name |
zinc finger protein of the cerebellum 5 |
| Synonyms |
odd-paired related, 1700049L20Rik, Opr |
| MMRRC Submission |
039393-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1327 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
122696572-122703127 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 122697191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035754
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039118]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039118
|
| SMART Domains |
Protein: ENSMUSP00000035754
Gene: ENSMUSG00000041703
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 88.1%
|
| Validation Efficiency |
97% (38/39) |
| 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. 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd3 |
T |
C |
1: 180,560,748 (GRCm39) |
F99L |
possibly damaging |
Het |
| Arg1 |
T |
C |
10: 24,796,702 (GRCm39) |
|
probably null |
Het |
| Bsnd |
C |
T |
4: 106,343,809 (GRCm39) |
E166K |
probably benign |
Het |
| Cxcl9 |
A |
G |
5: 92,474,709 (GRCm39) |
C30R |
probably damaging |
Het |
| Ect2l |
C |
T |
10: 18,041,290 (GRCm39) |
R296H |
probably benign |
Het |
| Epha5 |
C |
A |
5: 84,254,644 (GRCm39) |
D632Y |
probably damaging |
Het |
| Fbxw11 |
T |
C |
11: 32,661,859 (GRCm39) |
Y79H |
probably benign |
Het |
| Fh1 |
A |
G |
1: 175,437,310 (GRCm39) |
M263T |
probably benign |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,177 (GRCm39) |
I245N |
possibly damaging |
Het |
| Ms4a13 |
A |
T |
19: 11,161,251 (GRCm39) |
I96N |
probably damaging |
Het |
| Nipa2 |
G |
A |
7: 55,594,256 (GRCm39) |
L38F |
possibly damaging |
Het |
| Pappa |
T |
A |
4: 65,269,840 (GRCm39) |
|
probably benign |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rnf111 |
A |
T |
9: 70,361,098 (GRCm39) |
D454E |
possibly damaging |
Het |
| Rp1 |
C |
T |
1: 4,418,193 (GRCm39) |
G973D |
probably benign |
Het |
| Rtn3 |
A |
G |
19: 7,408,376 (GRCm39) |
V922A |
possibly damaging |
Het |
| Setbp1 |
T |
C |
18: 78,826,573 (GRCm39) |
M1347V |
probably benign |
Het |
| Slc6a6 |
A |
G |
6: 91,703,016 (GRCm39) |
I130V |
probably benign |
Het |
| Smad7 |
T |
C |
18: 75,509,016 (GRCm39) |
S48P |
probably benign |
Het |
| Star |
A |
G |
8: 26,299,865 (GRCm39) |
D69G |
probably benign |
Het |
| Syne1 |
C |
A |
10: 4,998,925 (GRCm39) |
|
probably benign |
Het |
| Synj1 |
A |
T |
16: 90,743,743 (GRCm39) |
N1212K |
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,090,556 (GRCm39) |
M721V |
probably benign |
Het |
| Txndc11 |
T |
C |
16: 10,934,678 (GRCm39) |
D223G |
possibly damaging |
Het |
| Vit |
G |
A |
17: 78,932,629 (GRCm39) |
D579N |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,464,173 (GRCm39) |
|
probably benign |
Het |
| Zfp1005 |
A |
T |
2: 150,108,070 (GRCm39) |
H10L |
possibly damaging |
Het |
| Zfp318 |
A |
G |
17: 46,724,189 (GRCm39) |
E2064G |
probably damaging |
Het |
| Zftraf1 |
T |
A |
15: 76,533,376 (GRCm39) |
T121S |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,784,240 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Zic5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02157:Zic5
|
APN |
14 |
122,696,924 (GRCm39) |
missense |
unknown |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGCATGACTTCAGGGTTCCCATAC -3'
(R):5'- TCTCTGCTGCTCCAAGACCATCAG -3'
Sequencing Primer
(F):5'- CATCTTCAGACTCAGAGGTGG -3'
(R):5'- TTCAGGACAATAGACACAGGC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation