Incidental Mutation 'R1376:Fzd1'
| ID |
162876 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fzd1
|
| Ensembl Gene |
ENSMUSG00000044674 |
| Gene Name |
frizzled class receptor 1 |
| Synonyms |
Fz1, FZ-1 |
| MMRRC Submission |
039440-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1376 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
4803839-4808035 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4807174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 136
(T136M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054294]
|
| AlphaFold |
O70421 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054294
AA Change: T136M
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000058629
Gene: ENSMUSG00000044674
AA Change: T136M
| 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 |
0.1009 |
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 96.7%
- 10x: 90.4%
- 20x: 75.5%
|
| Validation Efficiency |
100% (3/3) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
A |
T |
11: 80,254,735 (GRCm39) |
I362N |
possibly damaging |
Het |
| 9130023H24Rik |
A |
G |
7: 127,836,182 (GRCm39) |
V137A |
probably benign |
Het |
| Adal |
A |
G |
2: 120,983,011 (GRCm39) |
D177G |
probably damaging |
Het |
| Cdcp2 |
G |
T |
4: 106,959,956 (GRCm39) |
V124F |
possibly damaging |
Het |
| Ceacam3 |
T |
C |
7: 16,897,088 (GRCm39) |
C685R |
probably damaging |
Het |
| Cfd |
T |
C |
10: 79,727,986 (GRCm39) |
I174T |
possibly damaging |
Het |
| Dapk2 |
C |
G |
9: 66,127,925 (GRCm39) |
R68G |
probably damaging |
Het |
| Ehd1 |
C |
T |
19: 6,344,418 (GRCm39) |
T226M |
probably damaging |
Het |
| Elp5 |
A |
G |
11: 69,865,916 (GRCm39) |
V120A |
probably benign |
Het |
| Galntl5 |
G |
T |
5: 25,391,286 (GRCm39) |
V62F |
probably benign |
Het |
| Josd2 |
C |
A |
7: 44,120,539 (GRCm39) |
P50H |
probably damaging |
Het |
| Lect2 |
T |
A |
13: 56,690,577 (GRCm39) |
I133F |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,214,245 (GRCm39) |
T700A |
probably benign |
Het |
| Lpl |
T |
C |
8: 69,340,250 (GRCm39) |
W82R |
probably damaging |
Het |
| Man2a1 |
C |
T |
17: 64,979,038 (GRCm39) |
R523C |
possibly damaging |
Het |
| Mast4 |
T |
C |
13: 102,872,916 (GRCm39) |
K1959E |
possibly damaging |
Het |
| Minar1 |
T |
C |
9: 89,473,299 (GRCm39) |
T871A |
probably damaging |
Het |
| Or10ag57 |
A |
G |
2: 87,218,162 (GRCm39) |
M38V |
probably benign |
Het |
| Or10ag58 |
C |
T |
2: 87,264,903 (GRCm39) |
S24L |
possibly damaging |
Het |
| Pde4dip |
A |
G |
3: 97,650,533 (GRCm39) |
V963A |
probably damaging |
Het |
| Pdgfd |
A |
G |
9: 6,376,994 (GRCm39) |
I357V |
probably benign |
Het |
| Pold1 |
T |
C |
7: 44,189,986 (GRCm39) |
D400G |
probably damaging |
Het |
| Ppp1r12a |
T |
C |
10: 108,034,779 (GRCm39) |
I108T |
probably damaging |
Het |
| Rimbp2 |
G |
C |
5: 128,847,355 (GRCm39) |
P931A |
possibly damaging |
Het |
| Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Sf3b1 |
A |
T |
1: 55,058,424 (GRCm39) |
V55E |
probably damaging |
Het |
| Sult2a2 |
T |
C |
7: 13,468,696 (GRCm39) |
V54A |
probably damaging |
Het |
| Taf2 |
GCTTCTTCTTCTTCTTCTT |
GCTTCTTCTTCTTCTT |
15: 54,879,857 (GRCm39) |
|
probably benign |
Het |
| Taok3 |
T |
C |
5: 117,404,026 (GRCm39) |
Y734H |
probably damaging |
Het |
| Tasor |
A |
G |
14: 27,151,338 (GRCm39) |
K105E |
probably benign |
Het |
| Tuba3b |
A |
G |
6: 145,564,500 (GRCm39) |
E90G |
possibly damaging |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCGGATTACTGGTCCAGAACTC -3'
(R):5'- AACTTTGTGCCGAAGCACTCCC -3'
Sequencing Primer
(F):5'- ACTGGTCCAGAACTCTGGTAG -3'
(R):5'- AGGCTCCTCTGCTTTTGG -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation