Incidental Mutation 'R4241:Zic5'
| ID |
371169 |
| 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 |
041058-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4241 (G1)
|
| Quality Score |
27 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
122696572-122703127 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122702075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 219
(I219V)
|
| 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
AA Change: I219V
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000035754
Gene: ENSMUSG00000041703
AA Change: I219V
| 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 |
0.0596 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (49/50) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
A |
T |
3: 116,548,497 (GRCm39) |
|
probably benign |
Het |
| Ap5b1 |
C |
T |
19: 5,618,825 (GRCm39) |
L82F |
possibly damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,500,912 (GRCm39) |
S1113P |
probably damaging |
Het |
| Atoh1 |
A |
C |
6: 64,706,758 (GRCm39) |
N151T |
probably damaging |
Het |
| Bcas3 |
T |
A |
11: 85,361,652 (GRCm39) |
S25R |
probably damaging |
Het |
| Blcap |
T |
A |
2: 157,402,343 (GRCm39) |
|
probably benign |
Het |
| Btbd6 |
C |
T |
12: 112,940,416 (GRCm39) |
A13V |
probably benign |
Het |
| Ccdc83 |
A |
C |
7: 89,896,346 (GRCm39) |
N74K |
probably damaging |
Het |
| Cdh9 |
A |
G |
15: 16,849,165 (GRCm39) |
|
probably null |
Het |
| Chd1 |
C |
T |
17: 15,990,289 (GRCm39) |
R1614* |
probably null |
Het |
| Col16a1 |
G |
T |
4: 129,992,843 (GRCm39) |
Q1567H |
probably damaging |
Het |
| Coq6 |
A |
T |
12: 84,420,563 (GRCm39) |
|
probably benign |
Het |
| Cpd |
T |
C |
11: 76,737,611 (GRCm39) |
D61G |
probably benign |
Het |
| Csnk1e |
A |
G |
15: 79,309,095 (GRCm39) |
F277S |
probably damaging |
Het |
| Cyp2d41-ps |
T |
A |
15: 82,663,787 (GRCm39) |
|
noncoding transcript |
Het |
| Dbt |
T |
C |
3: 116,326,945 (GRCm39) |
I98T |
probably damaging |
Het |
| Eif3e |
G |
A |
15: 43,126,086 (GRCm39) |
T287I |
probably damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,853,760 (GRCm39) |
S1575G |
probably damaging |
Het |
| Gm7135 |
A |
G |
1: 97,281,678 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr176 |
A |
T |
2: 118,110,091 (GRCm39) |
S389R |
probably benign |
Het |
| Hax1 |
A |
G |
3: 89,902,997 (GRCm39) |
S257P |
probably damaging |
Het |
| Herc1 |
CTGAGGACTCTTTG |
CTG |
9: 66,355,630 (GRCm39) |
|
probably null |
Het |
| Ighv1-53 |
C |
T |
12: 115,122,442 (GRCm39) |
C5Y |
probably benign |
Het |
| Klhl13 |
T |
A |
X: 23,181,414 (GRCm39) |
D2V |
probably damaging |
Het |
| Kynu |
A |
T |
2: 43,571,422 (GRCm39) |
H446L |
probably benign |
Het |
| Lingo1 |
A |
G |
9: 56,527,386 (GRCm39) |
F401S |
probably damaging |
Het |
| Lmbrd1 |
C |
T |
1: 24,732,049 (GRCm39) |
Q89* |
probably null |
Het |
| Mov10 |
T |
A |
3: 104,704,592 (GRCm39) |
Q773L |
probably benign |
Het |
| Or52e19 |
G |
T |
7: 102,959,868 (GRCm39) |
*313Y |
probably null |
Het |
| Or7c70 |
T |
A |
10: 78,683,739 (GRCm39) |
R3S |
probably benign |
Het |
| Pde6c |
G |
A |
19: 38,151,293 (GRCm39) |
G608S |
probably damaging |
Het |
| Peli3 |
T |
C |
19: 4,982,426 (GRCm39) |
H413R |
probably damaging |
Het |
| Pkdrej |
C |
T |
15: 85,702,345 (GRCm39) |
R1197Q |
probably damaging |
Het |
| Rcan2 |
T |
A |
17: 44,264,370 (GRCm39) |
V10D |
probably benign |
Het |
| Slc10a5 |
A |
G |
3: 10,400,520 (GRCm39) |
S47P |
probably damaging |
Het |
| Sprr3 |
A |
G |
3: 92,364,214 (GRCm39) |
V210A |
possibly damaging |
Het |
| Tcerg1l |
G |
T |
7: 137,999,361 (GRCm39) |
Q8K |
unknown |
Het |
| Ubfd1 |
T |
C |
7: 121,670,977 (GRCm39) |
V265A |
possibly damaging |
Het |
| Ubr1 |
T |
C |
2: 120,764,867 (GRCm39) |
D529G |
possibly damaging |
Het |
| Vmn1r180 |
A |
T |
7: 23,652,298 (GRCm39) |
I154F |
probably damaging |
Het |
| Vmn1r237 |
A |
G |
17: 21,534,925 (GRCm39) |
H216R |
possibly damaging |
Het |
| Whrn |
C |
T |
4: 63,351,210 (GRCm39) |
|
probably benign |
Het |
| Zfr |
T |
G |
15: 12,149,745 (GRCm39) |
D388E |
probably damaging |
Het |
| Zmat5 |
A |
G |
11: 4,678,614 (GRCm39) |
N53D |
probably benign |
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 |
|
|
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 |
|
|
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'- ATAGTGCGCGTCCCCTGAG -3'
(R):5'- TATGACAGGCTTCCCGGTG -3'
Sequencing Primer
(F):5'- CGGAGCGAAGGGTGGTTC -3'
(R):5'- TCGGACCCGAGCACATG -3'
|
| Posted On |
2016-02-29 |
Incidental Mutation