Incidental Mutation 'R0055:Fzd1'
ID |
16112 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fzd1
|
Ensembl Gene |
ENSMUSG00000044674 |
Gene Name |
frizzled class receptor 1 |
Synonyms |
Fz1, FZ-1 |
MMRRC Submission |
038349-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0055 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
4803839-4808035 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 4806037 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 515
(M515K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058629
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054294]
|
AlphaFold |
O70421 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054294
AA Change: M515K
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000058629 Gene: ENSMUSG00000044674 AA Change: M515K
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 |
0.9003 |
Coding Region Coverage |
- 1x: 89.7%
- 3x: 87.2%
- 10x: 80.9%
- 20x: 71.2%
|
Validation Efficiency |
85% (52/61) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
C |
6: 128,547,057 (GRCm39) |
|
probably benign |
Het |
Atp6v1h |
A |
T |
1: 5,154,677 (GRCm39) |
T2S |
probably benign |
Het |
BC034090 |
A |
T |
1: 155,117,404 (GRCm39) |
L238Q |
probably damaging |
Het |
Ccdc61 |
T |
C |
7: 18,626,461 (GRCm39) |
D128G |
probably damaging |
Het |
Cfap96 |
A |
T |
8: 46,421,198 (GRCm39) |
S108R |
probably damaging |
Het |
Dennd5a |
A |
G |
7: 109,498,998 (GRCm39) |
I955T |
possibly damaging |
Het |
Ephx4 |
T |
C |
5: 107,560,944 (GRCm39) |
L32S |
probably damaging |
Het |
Fbxo21 |
T |
A |
5: 118,138,555 (GRCm39) |
D493E |
probably benign |
Het |
Frmd4b |
A |
T |
6: 97,300,610 (GRCm39) |
|
probably benign |
Het |
Gli2 |
A |
G |
1: 118,818,138 (GRCm39) |
|
probably benign |
Het |
Gm12887 |
T |
A |
4: 121,473,666 (GRCm39) |
K61N |
probably damaging |
Het |
Grin2a |
A |
T |
16: 9,487,671 (GRCm39) |
V409D |
probably damaging |
Het |
Grin2b |
T |
C |
6: 135,900,201 (GRCm39) |
I227V |
probably benign |
Het |
Helz2 |
T |
G |
2: 180,870,614 (GRCm39) |
D2879A |
possibly damaging |
Het |
Itpr2 |
T |
C |
6: 146,224,631 (GRCm39) |
N1453S |
probably benign |
Het |
Lin7c |
T |
A |
2: 109,726,798 (GRCm39) |
|
probably benign |
Het |
Ly75 |
T |
C |
2: 60,152,262 (GRCm39) |
E1097G |
probably benign |
Het |
Mcm10 |
T |
C |
2: 4,996,218 (GRCm39) |
N882D |
probably damaging |
Het |
Mybph |
G |
T |
1: 134,121,590 (GRCm39) |
V88L |
probably damaging |
Het |
Nefm |
T |
A |
14: 68,358,648 (GRCm39) |
|
probably benign |
Het |
Nf1 |
A |
G |
11: 79,362,377 (GRCm39) |
E1497G |
probably damaging |
Het |
Or2j3 |
T |
C |
17: 38,615,702 (GRCm39) |
S217G |
possibly damaging |
Het |
Or51ah3 |
A |
G |
7: 103,210,244 (GRCm39) |
K187E |
probably damaging |
Het |
Or52e18 |
T |
A |
7: 104,609,703 (GRCm39) |
T79S |
possibly damaging |
Het |
Phf8-ps |
A |
T |
17: 33,285,696 (GRCm39) |
W369R |
probably damaging |
Het |
Plcd3 |
C |
G |
11: 102,968,411 (GRCm39) |
W382S |
probably damaging |
Het |
Plxna1 |
T |
A |
6: 89,306,721 (GRCm39) |
I1370F |
possibly damaging |
Het |
Qng1 |
T |
C |
13: 58,531,980 (GRCm39) |
D192G |
probably damaging |
Het |
Rarb |
G |
A |
14: 16,509,066 (GRCm38) |
R106C |
probably damaging |
Het |
Rps6ka5 |
G |
A |
12: 100,644,839 (GRCm39) |
T37I |
probably damaging |
Het |
Scube1 |
A |
G |
15: 83,518,937 (GRCm39) |
V301A |
probably damaging |
Het |
Slc25a45 |
T |
C |
19: 5,930,495 (GRCm39) |
F3L |
probably damaging |
Het |
Slfn10-ps |
A |
G |
11: 82,921,126 (GRCm39) |
|
noncoding transcript |
Het |
Slit2 |
C |
A |
5: 48,439,068 (GRCm39) |
C1077* |
probably null |
Het |
Ucp1 |
G |
T |
8: 84,017,233 (GRCm39) |
E8* |
probably null |
Het |
Zdhhc11 |
C |
T |
13: 74,130,805 (GRCm39) |
Q295* |
probably null |
Het |
Zfp457 |
T |
A |
13: 67,442,098 (GRCm39) |
H63L |
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 |
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 |
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 |
|
Posted On |
2013-01-08 |