Incidental Mutation 'R6485:Zic5'
| ID |
517318 |
| 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 |
044617-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6485 (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 A
at 122697052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 521
(Y521F)
|
| 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: Y521F
|
| SMART Domains |
Protein: ENSMUSP00000035754
Gene: ENSMUSG00000041703
AA Change: Y521F
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.1%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
C |
A |
7: 120,026,390 (GRCm39) |
Y117* |
probably null |
Het |
| Acot5 |
A |
T |
12: 84,122,258 (GRCm39) |
R281W |
probably damaging |
Het |
| Adamts20 |
T |
C |
15: 94,241,852 (GRCm39) |
T719A |
probably benign |
Het |
| Arhgap33 |
T |
C |
7: 30,223,429 (GRCm39) |
T867A |
probably benign |
Het |
| Bcl2a1c |
T |
C |
9: 114,159,278 (GRCm39) |
Y19H |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,974,459 (GRCm39) |
I2285T |
possibly damaging |
Het |
| Cacna2d1 |
A |
G |
5: 16,559,655 (GRCm39) |
Y755C |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,396,474 (GRCm39) |
T816A |
probably benign |
Het |
| Clasrp |
C |
A |
7: 19,320,294 (GRCm39) |
|
probably benign |
Het |
| Col6a4 |
A |
G |
9: 105,954,069 (GRCm39) |
|
probably null |
Het |
| Cpd |
T |
C |
11: 76,699,533 (GRCm39) |
|
probably null |
Het |
| Crispld2 |
A |
G |
8: 120,756,048 (GRCm39) |
D339G |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,333,610 (GRCm39) |
D7046G |
probably damaging |
Het |
| Erbin |
G |
T |
13: 104,004,621 (GRCm39) |
Q136K |
probably damaging |
Het |
| Exph5 |
G |
A |
9: 53,287,991 (GRCm39) |
E1691K |
possibly damaging |
Het |
| Fads6 |
A |
G |
11: 115,176,264 (GRCm39) |
F187S |
probably benign |
Het |
| Foxg1 |
A |
T |
12: 49,431,863 (GRCm39) |
I199F |
probably damaging |
Het |
| Garem1 |
T |
C |
18: 21,262,894 (GRCm39) |
D640G |
probably benign |
Het |
| Gba2 |
A |
C |
4: 43,574,118 (GRCm39) |
Y112D |
probably damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,916,528 (GRCm39) |
I323T |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gria4 |
T |
A |
9: 4,464,249 (GRCm39) |
Y571F |
probably damaging |
Het |
| Large2 |
T |
C |
2: 92,196,373 (GRCm39) |
T485A |
probably benign |
Het |
| Lonrf1 |
A |
G |
8: 36,696,288 (GRCm39) |
|
probably null |
Het |
| Mrgprb5 |
T |
C |
7: 47,818,525 (GRCm39) |
N70S |
probably damaging |
Het |
| Muc2 |
T |
A |
7: 141,300,473 (GRCm39) |
|
probably benign |
Het |
| Nol4 |
T |
C |
18: 22,903,850 (GRCm39) |
D375G |
probably damaging |
Het |
| Or2b2 |
A |
G |
13: 21,887,600 (GRCm39) |
Q143R |
probably benign |
Het |
| Pcnt |
G |
T |
10: 76,225,164 (GRCm39) |
S1780* |
probably null |
Het |
| Pdgfra |
A |
T |
5: 75,335,735 (GRCm39) |
|
probably null |
Het |
| Pgd |
A |
T |
4: 149,240,876 (GRCm39) |
|
probably null |
Het |
| Pla2g6 |
T |
C |
15: 79,191,572 (GRCm39) |
I279V |
probably benign |
Het |
| Ptpn21 |
A |
T |
12: 98,665,131 (GRCm39) |
C297* |
probably null |
Het |
| Ripply1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
X: 138,680,599 (GRCm39) |
|
probably benign |
Het |
| Rtcb |
T |
C |
10: 85,793,508 (GRCm39) |
I22V |
probably benign |
Het |
| Slc25a30 |
G |
T |
14: 76,012,447 (GRCm39) |
A67E |
probably damaging |
Het |
| Stk11ip |
T |
C |
1: 75,506,612 (GRCm39) |
V605A |
possibly damaging |
Het |
| Ush1c |
A |
T |
7: 45,858,534 (GRCm39) |
S585T |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,657,414 (GRCm39) |
D1785G |
probably damaging |
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 |
|
|
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'- CACTGGCCTGGCAAACATAC -3'
(R):5'- ATTGCTTCAAATGAGAGGTCTCTGG -3'
Sequencing Primer
(F):5'- ACATACCACTCATTGAGGTTGGTCAC -3'
(R):5'- TTCAAATGAGAGGTCTCTGGGAAGC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation