Incidental Mutation 'R6757:Fzd8'
| ID |
531099 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fzd8
|
| Ensembl Gene |
ENSMUSG00000036904 |
| Gene Name |
frizzled class receptor 8 |
| Synonyms |
Fz8, mFZ8 |
| MMRRC Submission |
044873-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6757 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
9212856-9216201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 9213238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 107
(C107S)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000041080
AA Change: C107S
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000039660
Gene: ENSMUSG00000036904
AA Change: C107S
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.6%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
A |
T |
1: 11,666,558 (GRCm39) |
*288Y |
probably null |
Het |
| Art2a |
G |
T |
7: 101,204,221 (GRCm39) |
L106I |
probably benign |
Het |
| Bmi1 |
C |
T |
2: 18,688,840 (GRCm39) |
T203M |
probably damaging |
Het |
| Cpm |
A |
G |
10: 117,507,543 (GRCm39) |
D220G |
probably damaging |
Het |
| Cyp2a22 |
A |
C |
7: 26,638,629 (GRCm39) |
D52E |
probably benign |
Het |
| Dag1 |
A |
C |
9: 108,095,216 (GRCm39) |
I92S |
probably damaging |
Het |
| Dntt |
A |
T |
19: 41,025,601 (GRCm39) |
H73L |
probably damaging |
Het |
| Epha5 |
A |
C |
5: 84,253,737 (GRCm39) |
I716S |
probably damaging |
Het |
| Fpr-rs4 |
C |
T |
17: 18,242,394 (GRCm39) |
Q134* |
probably null |
Het |
| Garre1 |
G |
A |
7: 33,938,502 (GRCm39) |
A799V |
possibly damaging |
Het |
| Gnptab |
T |
C |
10: 88,273,364 (GRCm39) |
L1047P |
probably damaging |
Het |
| Gstt1 |
A |
T |
10: 75,634,217 (GRCm39) |
|
probably null |
Het |
| Kdm2a |
T |
C |
19: 4,369,271 (GRCm39) |
R1115G |
probably damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Myo1b |
C |
T |
1: 51,852,207 (GRCm39) |
E179K |
probably damaging |
Het |
| Nrp1 |
T |
A |
8: 129,152,349 (GRCm39) |
I186N |
probably damaging |
Het |
| Or10g3 |
A |
G |
14: 52,610,172 (GRCm39) |
C113R |
probably damaging |
Het |
| Pole |
T |
C |
5: 110,451,476 (GRCm39) |
V835A |
probably damaging |
Het |
| Shprh |
A |
G |
10: 11,057,252 (GRCm39) |
|
probably null |
Het |
| Slc39a14 |
A |
T |
14: 70,548,333 (GRCm39) |
L238Q |
probably damaging |
Het |
| Spata31e5 |
A |
C |
1: 28,819,191 (GRCm39) |
I30S |
probably damaging |
Het |
| Usp40 |
A |
T |
1: 87,907,759 (GRCm39) |
I619N |
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 |
|
|
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 |
|
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'- GGTTACAACTACACTTACATGCC -3'
(R):5'- TCTTGACGCGGTTGTAGAGC -3'
Sequencing Primer
(F):5'- ACTTACATGCCCAACCAGTTC -3'
(R):5'- TGGACACGCTCACCATGG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation