Incidental Mutation 'R7713:Zic5'
| ID |
594753 |
| 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 |
045771-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7713 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
122696572-122703127 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122701525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 402
(N402S)
|
| 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: N402S
|
| SMART Domains |
Protein: ENSMUSP00000035754
Gene: ENSMUSG00000041703
AA Change: N402S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 87,066,173 (GRCm39) |
S119P |
possibly damaging |
Het |
| Agtpbp1 |
T |
A |
13: 59,661,966 (GRCm39) |
I282F |
probably damaging |
Het |
| Armh1 |
A |
T |
4: 117,071,425 (GRCm39) |
M355K |
possibly damaging |
Het |
| Cep128 |
A |
T |
12: 90,986,096 (GRCm39) |
D1013E |
probably benign |
Het |
| Clock |
A |
T |
5: 76,393,267 (GRCm39) |
|
probably null |
Het |
| Cspg4b |
T |
G |
13: 113,483,075 (GRCm39) |
V1559G |
|
Het |
| D630003M21Rik |
G |
A |
2: 158,058,698 (GRCm39) |
Q401* |
probably null |
Het |
| Dnah17 |
C |
A |
11: 117,915,997 (GRCm39) |
V4302L |
probably benign |
Het |
| Drc3 |
A |
G |
11: 60,261,386 (GRCm39) |
Y179C |
probably benign |
Het |
| Erbb3 |
T |
C |
10: 128,410,318 (GRCm39) |
T647A |
probably benign |
Het |
| Esrp2 |
T |
C |
8: 106,860,908 (GRCm39) |
T205A |
probably benign |
Het |
| Fbxw7 |
T |
C |
3: 84,874,872 (GRCm39) |
|
probably null |
Het |
| Fmn1 |
C |
T |
2: 113,356,159 (GRCm39) |
P965S |
unknown |
Het |
| Fndc7 |
C |
T |
3: 108,777,979 (GRCm39) |
V412M |
possibly damaging |
Het |
| G2e3 |
C |
A |
12: 51,415,839 (GRCm39) |
A525E |
probably damaging |
Het |
| Gcfc2 |
C |
T |
6: 81,918,371 (GRCm39) |
R354C |
probably damaging |
Het |
| Ggt1 |
T |
A |
10: 75,421,508 (GRCm39) |
N510K |
probably damaging |
Het |
| Gnas |
C |
T |
2: 174,140,820 (GRCm39) |
T389I |
unknown |
Het |
| Hapln3 |
C |
T |
7: 78,767,121 (GRCm39) |
R306H |
probably benign |
Het |
| Hydin |
T |
C |
8: 111,320,444 (GRCm39) |
L4496P |
possibly damaging |
Het |
| Iqgap2 |
T |
A |
13: 95,867,952 (GRCm39) |
I219L |
probably benign |
Het |
| Kcnj2 |
T |
C |
11: 110,963,309 (GRCm39) |
S234P |
probably benign |
Het |
| Lipf |
T |
A |
19: 33,950,465 (GRCm39) |
S286T |
probably damaging |
Het |
| Lrrc32 |
G |
T |
7: 98,148,545 (GRCm39) |
G442W |
probably damaging |
Het |
| Megf10 |
GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA |
GGCAGCAACAGCACCAGCAGCA |
18: 57,427,071 (GRCm39) |
|
probably benign |
Het |
| Mtmr4 |
T |
C |
11: 87,488,550 (GRCm39) |
V68A |
probably damaging |
Het |
| Mug2 |
T |
C |
6: 122,055,754 (GRCm39) |
S1146P |
possibly damaging |
Het |
| Naa35 |
T |
C |
13: 59,745,919 (GRCm39) |
I75T |
probably benign |
Het |
| Nepn |
T |
A |
10: 52,277,274 (GRCm39) |
F337I |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,316,432 (GRCm39) |
M496V |
probably benign |
Het |
| Nthl1 |
A |
T |
17: 24,857,631 (GRCm39) |
I277F |
possibly damaging |
Het |
| Or10a3 |
A |
C |
7: 108,479,889 (GRCm39) |
I308S |
probably damaging |
Het |
| Or4p8 |
T |
C |
2: 88,728,122 (GRCm39) |
|
probably benign |
Het |
| Osr1 |
A |
T |
12: 9,629,253 (GRCm39) |
Y42F |
probably damaging |
Het |
| Rad54l2 |
G |
A |
9: 106,594,422 (GRCm39) |
R369W |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,465,691 (GRCm39) |
T4828S |
probably benign |
Het |
| Slc25a54 |
T |
A |
3: 109,010,133 (GRCm39) |
C211S |
probably damaging |
Het |
| Ube4b |
C |
T |
4: 149,483,238 (GRCm39) |
R10Q |
possibly damaging |
Het |
| Usp9y |
G |
A |
Y: 1,304,411 (GRCm39) |
Q2440* |
probably null |
Het |
| Yars1 |
G |
T |
4: 129,104,291 (GRCm39) |
V312L |
probably benign |
Het |
| Zfp26 |
G |
A |
9: 20,352,630 (GRCm39) |
T145I |
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 |
|
|
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 |
|
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'- ATCTTGAGGTTCTCGGAGCG -3'
(R):5'- GAGCCGTGAACTTAAACCTGAAC -3'
Sequencing Primer
(F):5'- AGCGCGCGAAGACCTTG -3'
(R):5'- GTGAACTTAAACCTGAACCTGGCTG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation