Incidental Mutation 'R6642:Fzd1'
ID |
525839 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fzd1
|
Ensembl Gene |
ENSMUSG00000044674 |
Gene Name |
frizzled class receptor 1 |
Synonyms |
Fz1, FZ-1 |
MMRRC Submission |
044763-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6642 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
4803839-4808035 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4805696 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 629
(Y629H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058629
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054294]
|
AlphaFold |
O70421 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000054294
AA Change: Y629H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000058629 Gene: ENSMUSG00000044674 AA Change: Y629H
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 |
0.2484 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
Validation Efficiency |
100% (35/35) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
T |
A |
2: 152,282,790 (GRCm39) |
V215D |
probably damaging |
Het |
Ablim1 |
A |
G |
19: 57,119,284 (GRCm39) |
S267P |
probably benign |
Het |
Adcy2 |
C |
T |
13: 68,768,945 (GRCm39) |
C1061Y |
probably damaging |
Het |
Aip |
C |
A |
19: 4,165,149 (GRCm39) |
C240F |
probably damaging |
Het |
Aldh1a2 |
A |
T |
9: 71,160,268 (GRCm39) |
D98V |
probably damaging |
Het |
Arhgef40 |
T |
C |
14: 52,228,419 (GRCm39) |
|
probably benign |
Het |
Cplx2 |
G |
T |
13: 54,526,736 (GRCm39) |
R48L |
probably damaging |
Het |
Ctrl |
C |
T |
8: 106,659,451 (GRCm39) |
|
probably null |
Het |
Dnhd1 |
A |
G |
7: 105,353,006 (GRCm39) |
T2720A |
probably benign |
Het |
Gins1 |
T |
C |
2: 150,770,038 (GRCm39) |
|
probably null |
Het |
Gpr149 |
C |
T |
3: 62,437,995 (GRCm39) |
A721T |
probably damaging |
Het |
Helb |
A |
T |
10: 119,920,835 (GRCm39) |
M1036K |
probably benign |
Het |
Il16 |
A |
G |
7: 83,337,335 (GRCm39) |
F127L |
probably benign |
Het |
Kctd20 |
A |
T |
17: 29,180,640 (GRCm39) |
H138L |
probably damaging |
Het |
Kctd9 |
T |
A |
14: 67,962,122 (GRCm39) |
L55* |
probably null |
Het |
Marf1 |
C |
T |
16: 13,950,611 (GRCm39) |
R925H |
probably benign |
Het |
Mbip |
A |
T |
12: 56,389,191 (GRCm39) |
|
probably benign |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Nod1 |
T |
G |
6: 54,925,014 (GRCm39) |
D99A |
probably damaging |
Het |
Olfm4 |
A |
G |
14: 80,259,107 (GRCm39) |
K419E |
probably damaging |
Het |
Or6c214 |
A |
T |
10: 129,591,232 (GRCm39) |
L29Q |
probably damaging |
Het |
Pik3r4 |
A |
G |
9: 105,521,845 (GRCm39) |
D137G |
probably benign |
Het |
Prdm4 |
T |
C |
10: 85,743,682 (GRCm39) |
E191G |
probably benign |
Het |
Rassf10 |
A |
T |
7: 112,554,784 (GRCm39) |
T462S |
probably benign |
Het |
Rundc3b |
A |
T |
5: 8,629,071 (GRCm39) |
I110N |
probably damaging |
Het |
Sgsm3 |
C |
T |
15: 80,893,901 (GRCm39) |
R479C |
probably damaging |
Het |
Tmc7 |
A |
T |
7: 118,144,834 (GRCm39) |
Y575* |
probably null |
Het |
Trim33 |
T |
C |
3: 103,244,830 (GRCm39) |
L310S |
probably damaging |
Het |
Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
Ttn |
T |
C |
2: 76,565,740 (GRCm39) |
E28204G |
probably damaging |
Het |
Vmn1r233 |
A |
T |
17: 21,214,002 (GRCm39) |
L316Q |
probably damaging |
Het |
Vmn2r110 |
A |
T |
17: 20,803,779 (GRCm39) |
N265K |
possibly damaging |
Het |
Xylb |
A |
G |
9: 119,196,559 (GRCm39) |
H114R |
probably damaging |
Het |
Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
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 |
R4446:Fzd1
|
UTSW |
5 |
4,805,777 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- CTGCAAAAGTCAGTGGCTG -3'
(R):5'- CTATGAACAGGCCTTTCGGG -3'
Sequencing Primer
(F):5'- AGTCAGTGGCTGGCGAG -3'
(R):5'- GCTGCAAGAGTTATGCCATC -3'
|
Posted On |
2018-06-22 |