Incidental Mutation 'R0966:Fzd8'
| ID |
84067 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fzd8
|
| Ensembl Gene |
ENSMUSG00000036904 |
| Gene Name |
frizzled class receptor 8 |
| Synonyms |
Fz8, mFZ8 |
| MMRRC Submission |
039095-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0966 (G1)
|
| Quality Score |
200 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
9212856-9216201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 9214745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 609
(E609V)
|
| 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: E609V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000039660
Gene: ENSMUSG00000036904
AA Change: E609V
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.8%
- 20x: 94.0%
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061N02Rik |
T |
A |
16: 88,504,310 (GRCm39) |
R162S |
probably damaging |
Het |
| Arhgef10 |
T |
G |
8: 14,990,343 (GRCm39) |
S272A |
probably benign |
Het |
| Cd101 |
A |
C |
3: 100,915,538 (GRCm39) |
S676R |
probably benign |
Het |
| Efcab5 |
G |
A |
11: 77,031,749 (GRCm39) |
R42W |
probably damaging |
Het |
| Flrt2 |
T |
C |
12: 95,747,075 (GRCm39) |
V471A |
possibly damaging |
Het |
| Gm10110 |
A |
C |
14: 90,135,555 (GRCm39) |
|
noncoding transcript |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Igf2bp2 |
C |
T |
16: 21,907,840 (GRCm39) |
R19Q |
probably damaging |
Het |
| Mmp16 |
C |
G |
4: 18,115,930 (GRCm39) |
N511K |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,131,816 (GRCm39) |
H460R |
probably damaging |
Het |
| Or52a5 |
T |
A |
7: 103,426,656 (GRCm39) |
T299S |
probably damaging |
Het |
| Plekhh1 |
T |
C |
12: 79,112,504 (GRCm39) |
F594L |
probably damaging |
Het |
| Prkca |
T |
A |
11: 107,905,110 (GRCm39) |
K209N |
possibly damaging |
Het |
| Slc5a2 |
G |
C |
7: 127,869,803 (GRCm39) |
R412P |
probably damaging |
Het |
| Slco1a7 |
A |
G |
6: 141,673,299 (GRCm39) |
F413S |
probably benign |
Het |
| Ugt1a6b |
G |
A |
1: 88,034,850 (GRCm39) |
V63I |
probably benign |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Vps36 |
G |
A |
8: 22,696,833 (GRCm39) |
W131* |
probably null |
Het |
| Wdr3 |
A |
T |
3: 100,068,385 (GRCm39) |
V41E |
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 |
|
|
IGL03129:Fzd8
|
APN |
18 |
9,214,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTTTTCTATGAGCAGCACAACC -3'
(R):5'- TCAGACCTGGGACAATGGCATTTG -3'
Sequencing Primer
(F):5'- AGCAGCACAACCGACCG -3'
(R):5'- GCATTTGCTTAGGGTAAGATACAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation