Incidental Mutation 'IGL03129:Fzd8'
| ID |
410246 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fzd8
|
| Ensembl Gene |
ENSMUSG00000036904 |
| Gene Name |
frizzled class receptor 8 |
| Synonyms |
Fz8, mFZ8 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03129
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
9212856-9216201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 9214270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 451
(S451P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039660
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041080]
|
| AlphaFold |
Q61091 |
| PDB Structure |
CRYSTAL STRUCTURE OF THE CYSTEINE-RICH DOMAIN OF MOUSE FRIZZLED 8 (MFZ8) [X-RAY DIFFRACTION]
Crystal structure of XWnt8 in complex with the cysteine-rich domain of Frizzled 8 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041080
AA Change: S451P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039660
Gene: ENSMUSG00000036904
AA Change: S451P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
FRI
|
34 |
153 |
9.06e-73 |
SMART |
|
low complexity region
|
161 |
228 |
N/A |
INTRINSIC |
|
Frizzled
|
264 |
621 |
1.47e-219 |
SMART |
|
low complexity region
|
624 |
655 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This gene is highly expressed in two human cancer cell lines, indicating that it may play a role in several types of cancer. The crystal structure of the extracellular cysteine-rich domain of a similar mouse protein has been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene does not appear to result in a phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
G |
5: 99,377,238 (GRCm39) |
V403A |
probably damaging |
Het |
| Adpgk |
T |
C |
9: 59,221,088 (GRCm39) |
L298P |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,187,089 (GRCm39) |
D1501V |
probably damaging |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,791,061 (GRCm39) |
Y2478* |
probably null |
Het |
| Col6a3 |
A |
G |
1: 90,749,584 (GRCm39) |
Y417H |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 16,011,521 (GRCm39) |
F2511L |
probably damaging |
Het |
| Dzip3 |
T |
C |
16: 48,762,446 (GRCm39) |
M602V |
possibly damaging |
Het |
| Efna2 |
G |
A |
10: 80,024,346 (GRCm39) |
|
probably null |
Het |
| Galntl6 |
A |
T |
8: 58,880,750 (GRCm39) |
D134E |
probably damaging |
Het |
| Grid2 |
T |
C |
6: 64,040,888 (GRCm39) |
S277P |
probably damaging |
Het |
| Lcn2 |
A |
G |
2: 32,277,716 (GRCm39) |
V91A |
possibly damaging |
Het |
| Lrp1b |
G |
A |
2: 41,202,478 (GRCm39) |
|
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 157,866,696 (GRCm39) |
Y1015F |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,729,994 (GRCm39) |
C2779S |
possibly damaging |
Het |
| Nlrp10 |
A |
T |
7: 108,524,118 (GRCm39) |
F454Y |
probably damaging |
Het |
| Obox5 |
T |
A |
7: 15,492,684 (GRCm39) |
L213Q |
probably damaging |
Het |
| Or1o2 |
T |
A |
17: 37,543,087 (GRCm39) |
Y58F |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,248,043 (GRCm39) |
M486V |
probably benign |
Het |
| Plcg1 |
A |
C |
2: 160,616,446 (GRCm39) |
|
probably null |
Het |
| Polr1b |
G |
A |
2: 128,957,627 (GRCm39) |
V561I |
probably benign |
Het |
| Polr3c |
A |
T |
3: 96,626,770 (GRCm39) |
|
probably benign |
Het |
| Prkg1 |
T |
A |
19: 30,562,681 (GRCm39) |
K523* |
probably null |
Het |
| Prss3l |
T |
C |
6: 41,420,432 (GRCm39) |
N98S |
probably benign |
Het |
| Sema3b |
T |
A |
9: 107,476,995 (GRCm39) |
|
probably benign |
Het |
| Sp9 |
A |
G |
2: 73,103,865 (GRCm39) |
T140A |
probably benign |
Het |
| Zfp507 |
T |
C |
7: 35,493,631 (GRCm39) |
R471G |
probably damaging |
Het |
|
| Other mutations in Fzd8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00571:Fzd8
|
APN |
18 |
9,213,068 (GRCm39) |
missense |
unknown |
|
|
IGL01511:Fzd8
|
APN |
18 |
9,213,293 (GRCm39) |
missense |
unknown |
|
|
Stilt
|
UTSW |
18 |
9,213,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0058:Fzd8
|
UTSW |
18 |
9,213,985 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0715:Fzd8
|
UTSW |
18 |
9,212,947 (GRCm39) |
missense |
unknown |
|
|
R0966:Fzd8
|
UTSW |
18 |
9,214,745 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1717:Fzd8
|
UTSW |
18 |
9,214,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1751:Fzd8
|
UTSW |
18 |
9,213,643 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1761:Fzd8
|
UTSW |
18 |
9,213,643 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1905:Fzd8
|
UTSW |
18 |
9,213,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1956:Fzd8
|
UTSW |
18 |
9,214,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2892:Fzd8
|
UTSW |
18 |
9,214,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3897:Fzd8
|
UTSW |
18 |
9,214,939 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3968:Fzd8
|
UTSW |
18 |
9,214,070 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4934:Fzd8
|
UTSW |
18 |
9,214,492 (GRCm39) |
frame shift |
probably null |
|
|
R5366:Fzd8
|
UTSW |
18 |
9,213,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5624:Fzd8
|
UTSW |
18 |
9,213,268 (GRCm39) |
missense |
unknown |
|
|
R6261:Fzd8
|
UTSW |
18 |
9,214,598 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6757:Fzd8
|
UTSW |
18 |
9,213,238 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6758:Fzd8
|
UTSW |
18 |
9,213,238 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6899:Fzd8
|
UTSW |
18 |
9,214,729 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7242:Fzd8
|
UTSW |
18 |
9,214,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8140:Fzd8
|
UTSW |
18 |
9,213,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8324:Fzd8
|
UTSW |
18 |
9,214,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8722:Fzd8
|
UTSW |
18 |
9,213,686 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8818:Fzd8
|
UTSW |
18 |
9,214,474 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8820:Fzd8
|
UTSW |
18 |
9,213,247 (GRCm39) |
missense |
unknown |
|
|
R8913:Fzd8
|
UTSW |
18 |
9,213,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9036:Fzd8
|
UTSW |
18 |
9,214,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9401:Fzd8
|
UTSW |
18 |
9,213,205 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
| Posted On |
2016-08-02 |
Incidental Mutation