Incidental Mutation 'R6758:Fzd8'
| ID |
531123 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fzd8
|
| Ensembl Gene |
ENSMUSG00000036904 |
| Gene Name |
frizzled class receptor 8 |
| Synonyms |
Fz8, mFZ8 |
| MMRRC Submission |
044874-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6758 (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: 99.7%
- 10x: 98.4%
- 20x: 95.9%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd17 |
A |
T |
5: 90,411,172 (GRCm39) |
D1374E |
probably damaging |
Het |
| Cd96 |
C |
A |
16: 45,938,367 (GRCm39) |
V33L |
possibly damaging |
Het |
| Drd1 |
T |
C |
13: 54,207,308 (GRCm39) |
E295G |
probably benign |
Het |
| Gm10801 |
C |
CGTG |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Gm11595 |
C |
A |
11: 99,663,366 (GRCm39) |
V105L |
unknown |
Het |
| Gm11595 |
A |
T |
11: 99,663,367 (GRCm39) |
C104* |
probably null |
Het |
| Igsf3 |
T |
C |
3: 101,332,814 (GRCm39) |
Y31H |
probably damaging |
Het |
| Ikzf2 |
A |
T |
1: 69,578,059 (GRCm39) |
H483Q |
probably damaging |
Het |
| Itgbl1 |
A |
G |
14: 124,094,901 (GRCm39) |
K309E |
probably benign |
Het |
| Myt1l |
T |
G |
12: 29,892,599 (GRCm39) |
Y79D |
possibly damaging |
Het |
| Nid2 |
T |
A |
14: 19,852,551 (GRCm39) |
S1086R |
probably damaging |
Het |
| Or1o1 |
A |
G |
17: 37,716,586 (GRCm39) |
D49G |
probably damaging |
Het |
| Or5h24 |
T |
C |
16: 58,919,328 (GRCm39) |
E9G |
probably damaging |
Het |
| Or6c65 |
T |
C |
10: 129,603,920 (GRCm39) |
I185T |
probably damaging |
Het |
| Rorc |
A |
G |
3: 94,294,825 (GRCm39) |
N51S |
possibly damaging |
Het |
| Sanbr |
T |
C |
11: 23,538,475 (GRCm39) |
|
probably null |
Het |
| Simc1 |
C |
T |
13: 54,673,361 (GRCm39) |
P570S |
possibly damaging |
Het |
| Smn1 |
T |
A |
13: 100,268,946 (GRCm39) |
M264K |
possibly damaging |
Het |
| Tiam2 |
A |
G |
17: 3,568,678 (GRCm39) |
D1608G |
probably benign |
Het |
| Tll1 |
C |
A |
8: 64,494,439 (GRCm39) |
|
probably null |
Het |
| Trim15 |
A |
G |
17: 37,173,233 (GRCm39) |
L284P |
probably benign |
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 |
|
R6757: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'- CGGTTACAACTACACTTACATGCCC -3'
(R):5'- TCTTGACGCGGTTGTAGAGC -3'
Sequencing Primer
(F):5'- ACTTACATGCCCAACCAGTTC -3'
(R):5'- TGGACACGCTCACCATGG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation