Incidental Mutation 'R4446:Fzd1'
| ID |
329886 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fzd1
|
| Ensembl Gene |
ENSMUSG00000044674 |
| Gene Name |
frizzled class receptor 1 |
| Synonyms |
Fz1, FZ-1 |
| MMRRC Submission |
041707-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4446 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
4803839-4808035 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4805777 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 602
(Y602H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054294]
|
| AlphaFold |
O70421 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054294
AA Change: Y602H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058629
Gene: ENSMUSG00000044674
AA Change: Y602H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
96 |
N/A |
INTRINSIC |
|
FRI
|
110 |
227 |
7.77e-72 |
SMART |
|
low complexity region
|
249 |
262 |
N/A |
INTRINSIC |
|
Frizzled
|
304 |
635 |
4.18e-224 |
SMART |
|
| Meta Mutation Damage Score |
0.8532 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
91% (43/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD1 protein contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, 7 transmembrane domains, and a C-terminal PDZ domain-binding motif. The FZD1 transcript is expressed in various tissues. [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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730013G03Rik |
T |
A |
1: 192,515,731 (GRCm39) |
|
noncoding transcript |
Het |
| Adgrg6 |
A |
G |
10: 14,285,507 (GRCm39) |
S1160P |
probably damaging |
Het |
| Akt1 |
C |
T |
12: 112,625,567 (GRCm39) |
R144H |
probably benign |
Het |
| Arrdc3 |
T |
C |
13: 81,037,182 (GRCm39) |
|
probably benign |
Het |
| Asxl2 |
T |
A |
12: 3,551,774 (GRCm39) |
V1172E |
possibly damaging |
Het |
| Atp9a |
C |
T |
2: 168,523,917 (GRCm39) |
A242T |
possibly damaging |
Het |
| C2cd3 |
C |
T |
7: 100,023,684 (GRCm39) |
T90I |
probably damaging |
Het |
| C4bp |
A |
G |
1: 130,570,692 (GRCm39) |
S295P |
probably benign |
Het |
| Cdkl2 |
G |
A |
5: 92,168,168 (GRCm39) |
T342I |
probably benign |
Het |
| Cep131 |
T |
C |
11: 119,955,645 (GRCm39) |
E1025G |
probably damaging |
Het |
| Crot |
T |
C |
5: 9,023,643 (GRCm39) |
H415R |
probably damaging |
Het |
| Cyp17a1 |
A |
G |
19: 46,656,462 (GRCm39) |
F411L |
probably damaging |
Het |
| Dgkb |
G |
T |
12: 38,234,952 (GRCm39) |
G439V |
probably damaging |
Het |
| Dgkh |
A |
G |
14: 78,865,523 (GRCm39) |
V20A |
probably damaging |
Het |
| Dipk1a |
T |
C |
5: 108,072,500 (GRCm39) |
Y52C |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,182,854 (GRCm39) |
N2035S |
probably damaging |
Het |
| Gm38706 |
C |
A |
6: 130,460,273 (GRCm39) |
|
noncoding transcript |
Het |
| Hmmr |
T |
C |
11: 40,606,148 (GRCm39) |
Q274R |
probably damaging |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Igsf9b |
A |
G |
9: 27,245,548 (GRCm39) |
T1172A |
probably benign |
Het |
| Klf5 |
C |
T |
14: 99,539,666 (GRCm39) |
R360C |
probably damaging |
Het |
| Lrat |
A |
G |
3: 82,804,293 (GRCm39) |
M228T |
probably damaging |
Het |
| Mms19 |
A |
T |
19: 41,952,372 (GRCm39) |
M119K |
possibly damaging |
Het |
| Myo3a |
A |
T |
2: 22,490,149 (GRCm39) |
K565N |
probably damaging |
Het |
| Or10n1 |
A |
T |
9: 39,525,294 (GRCm39) |
I144L |
probably benign |
Het |
| Or1ad6 |
C |
T |
11: 50,860,690 (GRCm39) |
P282S |
probably damaging |
Het |
| Or3a1d |
T |
C |
11: 74,237,588 (GRCm39) |
D274G |
probably benign |
Het |
| Pcdha6 |
A |
G |
18: 37,100,813 (GRCm39) |
D2G |
probably benign |
Het |
| Pcdhga3 |
A |
G |
18: 37,808,938 (GRCm39) |
R464G |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pramel42 |
T |
A |
5: 94,685,702 (GRCm39) |
I454K |
probably damaging |
Het |
| Rnf13 |
A |
C |
3: 57,728,010 (GRCm39) |
K230T |
probably damaging |
Het |
| Sema6d |
A |
G |
2: 124,505,979 (GRCm39) |
M596V |
probably damaging |
Het |
| Slc25a25 |
T |
C |
2: 32,320,621 (GRCm39) |
K47E |
probably benign |
Het |
| Sptbn1 |
C |
T |
11: 30,089,114 (GRCm39) |
R716H |
possibly damaging |
Het |
| Ssx2ip |
G |
A |
3: 146,132,186 (GRCm39) |
V216I |
probably benign |
Het |
| Tatdn2 |
T |
G |
6: 113,679,501 (GRCm39) |
|
probably null |
Het |
| Tmprss6 |
A |
G |
15: 78,337,039 (GRCm39) |
Y356H |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,687,210 (GRCm39) |
|
probably benign |
Het |
| Umod |
A |
G |
7: 119,065,279 (GRCm39) |
|
probably null |
Het |
| Vmn2r93 |
T |
A |
17: 18,524,312 (GRCm39) |
I102K |
possibly damaging |
Het |
| Zdhhc6 |
T |
C |
19: 55,291,169 (GRCm39) |
I349V |
probably benign |
Het |
|
| Other mutations in Fzd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01560:Fzd1
|
APN |
5 |
4,806,037 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0055:Fzd1
|
UTSW |
5 |
4,806,037 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0055:Fzd1
|
UTSW |
5 |
4,806,037 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0402:Fzd1
|
UTSW |
5 |
4,805,702 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1376:Fzd1
|
UTSW |
5 |
4,807,174 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1376:Fzd1
|
UTSW |
5 |
4,807,174 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1585:Fzd1
|
UTSW |
5 |
4,806,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1606:Fzd1
|
UTSW |
5 |
4,807,514 (GRCm39) |
nonsense |
probably null |
|
|
R1708:Fzd1
|
UTSW |
5 |
4,805,791 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1767:Fzd1
|
UTSW |
5 |
4,806,812 (GRCm39) |
missense |
probably benign |
|
|
R1803:Fzd1
|
UTSW |
5 |
4,806,385 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1909:Fzd1
|
UTSW |
5 |
4,807,481 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2990:Fzd1
|
UTSW |
5 |
4,805,758 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4631:Fzd1
|
UTSW |
5 |
4,805,865 (GRCm39) |
nonsense |
probably null |
|
|
R4632:Fzd1
|
UTSW |
5 |
4,805,865 (GRCm39) |
nonsense |
probably null |
|
|
R4633:Fzd1
|
UTSW |
5 |
4,805,865 (GRCm39) |
nonsense |
probably null |
|
|
R5110:Fzd1
|
UTSW |
5 |
4,806,448 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6406:Fzd1
|
UTSW |
5 |
4,806,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6489:Fzd1
|
UTSW |
5 |
4,807,336 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6642:Fzd1
|
UTSW |
5 |
4,805,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7095:Fzd1
|
UTSW |
5 |
4,805,824 (GRCm39) |
small deletion |
probably benign |
|
|
R7150:Fzd1
|
UTSW |
5 |
4,806,145 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7204:Fzd1
|
UTSW |
5 |
4,805,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8290:Fzd1
|
UTSW |
5 |
4,807,060 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8354:Fzd1
|
UTSW |
5 |
4,807,336 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8454:Fzd1
|
UTSW |
5 |
4,807,336 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9000:Fzd1
|
UTSW |
5 |
4,806,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9265:Fzd1
|
UTSW |
5 |
4,807,216 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0028:Fzd1
|
UTSW |
5 |
4,806,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTCCTTGGGGCCAGCTTC -3'
(R):5'- CGGAGTCTTCAGTGTCCTCTAC -3'
Sequencing Primer
(F):5'- CCAGGCGATGGCTAGGATCAG -3'
(R):5'- GTCCTCTACACTGTGCCGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation