Incidental Mutation 'IGL03393:Fzd4'
| ID |
421140 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fzd4
|
| Ensembl Gene |
ENSMUSG00000049791 |
| Gene Name |
frizzled class receptor 4 |
| Synonyms |
Fz4 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.898)
|
| Stock # |
IGL03393
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
89053574-89062341 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89056505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 184
(V184A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049852
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058755]
|
| AlphaFold |
Q61088 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058755
AA Change: V184A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000049852
Gene: ENSMUSG00000049791
AA Change: V184A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
FRI
|
44 |
163 |
2.08e-72 |
SMART |
|
Frizzled
|
209 |
514 |
5.75e-204 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124477
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This 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 protein may play a role as a positive regulator of the Wingless type MMTV integration site signaling pathway. A transcript variant retaining intronic sequence and encoding a shorter isoform has been described, however, its expression is not supported by other experimental evidence. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in hearing, locomotion, retinal morphology, and degeneration of the cerebellum. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
G |
10: 86,909,902 (GRCm39) |
|
probably benign |
Het |
| Adamts5 |
G |
T |
16: 85,665,083 (GRCm39) |
S627Y |
probably damaging |
Het |
| Allc |
G |
A |
12: 28,610,010 (GRCm39) |
R196C |
probably damaging |
Het |
| Ccdc65 |
A |
C |
15: 98,618,568 (GRCm39) |
E241A |
probably benign |
Het |
| Dclk3 |
T |
C |
9: 111,317,741 (GRCm39) |
|
probably benign |
Het |
| Gfap |
T |
A |
11: 102,784,083 (GRCm39) |
|
probably null |
Het |
| Gpr149 |
A |
G |
3: 62,511,366 (GRCm39) |
V211A |
probably benign |
Het |
| Gprc6a |
A |
G |
10: 51,491,355 (GRCm39) |
I623T |
probably damaging |
Het |
| Gucy2c |
T |
C |
6: 136,696,665 (GRCm39) |
T687A |
probably benign |
Het |
| Kcnc4 |
T |
G |
3: 107,355,243 (GRCm39) |
M402L |
possibly damaging |
Het |
| Ktn1 |
T |
C |
14: 47,928,391 (GRCm39) |
L584S |
probably damaging |
Het |
| Mrgprb2 |
C |
T |
7: 48,202,650 (GRCm39) |
S25N |
probably benign |
Het |
| Muc5b |
T |
A |
7: 141,417,875 (GRCm39) |
V3607E |
probably benign |
Het |
| Or4c58 |
C |
A |
2: 89,674,913 (GRCm39) |
V135L |
probably benign |
Het |
| Or6c3b |
T |
C |
10: 129,527,147 (GRCm39) |
I254M |
probably damaging |
Het |
| Otx2 |
A |
G |
14: 48,898,781 (GRCm39) |
I75T |
probably damaging |
Het |
| Pabpc4l |
T |
C |
3: 46,400,972 (GRCm39) |
D224G |
probably damaging |
Het |
| Peg3 |
A |
T |
7: 6,710,648 (GRCm39) |
C1525S |
probably damaging |
Het |
| Polq |
A |
T |
16: 36,865,156 (GRCm39) |
L669F |
probably damaging |
Het |
| Prss40 |
A |
C |
1: 34,597,182 (GRCm39) |
V122G |
probably damaging |
Het |
| Rims2 |
A |
G |
15: 39,326,009 (GRCm39) |
|
probably null |
Het |
| Rrp12 |
A |
T |
19: 41,860,232 (GRCm39) |
M997K |
possibly damaging |
Het |
| Sbno2 |
G |
A |
10: 79,902,735 (GRCm39) |
R414W |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,148,362 (GRCm39) |
D41G |
probably benign |
Het |
| Serpinb1c |
A |
T |
13: 33,066,044 (GRCm39) |
D300E |
probably damaging |
Het |
| Timeless |
G |
A |
10: 128,087,924 (GRCm39) |
D1165N |
probably damaging |
Het |
| Tnpo1 |
T |
G |
13: 99,024,981 (GRCm39) |
K66N |
probably damaging |
Het |
| Trappc11 |
A |
T |
8: 47,963,912 (GRCm39) |
N629K |
possibly damaging |
Het |
| Ubr4 |
T |
A |
4: 139,179,989 (GRCm39) |
L255M |
probably damaging |
Het |
| Vmn1r10 |
T |
A |
6: 57,091,042 (GRCm39) |
Y211* |
probably null |
Het |
| Vmn2r76 |
T |
G |
7: 85,879,034 (GRCm39) |
N422T |
probably benign |
Het |
| Xylt1 |
C |
A |
7: 117,192,940 (GRCm39) |
N415K |
probably damaging |
Het |
| Zfp786 |
A |
T |
6: 47,798,458 (GRCm39) |
V160E |
possibly damaging |
Het |
|
| Other mutations in Fzd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01419:Fzd4
|
APN |
7 |
89,056,943 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01458:Fzd4
|
APN |
7 |
89,053,943 (GRCm39) |
missense |
unknown |
|
|
IGL02858:Fzd4
|
APN |
7 |
89,057,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1869:Fzd4
|
UTSW |
7 |
89,056,454 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4639:Fzd4
|
UTSW |
7 |
89,056,525 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4762:Fzd4
|
UTSW |
7 |
89,056,924 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4880:Fzd4
|
UTSW |
7 |
89,057,109 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5135:Fzd4
|
UTSW |
7 |
89,056,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5279:Fzd4
|
UTSW |
7 |
89,056,881 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5440:Fzd4
|
UTSW |
7 |
89,057,326 (GRCm39) |
nonsense |
probably null |
|
|
R5487:Fzd4
|
UTSW |
7 |
89,056,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6021:Fzd4
|
UTSW |
7 |
89,056,942 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6193:Fzd4
|
UTSW |
7 |
89,057,197 (GRCm39) |
nonsense |
probably null |
|
|
R6221:Fzd4
|
UTSW |
7 |
89,054,100 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6651:Fzd4
|
UTSW |
7 |
89,054,010 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7549:Fzd4
|
UTSW |
7 |
89,056,346 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7560:Fzd4
|
UTSW |
7 |
89,056,761 (GRCm39) |
nonsense |
probably null |
|
|
R7575:Fzd4
|
UTSW |
7 |
89,056,918 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7731:Fzd4
|
UTSW |
7 |
89,057,258 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7753:Fzd4
|
UTSW |
7 |
89,056,992 (GRCm39) |
nonsense |
probably null |
|
|
R8945:Fzd4
|
UTSW |
7 |
89,056,792 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9320:Fzd4
|
UTSW |
7 |
89,056,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Fzd4
|
UTSW |
7 |
89,056,458 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation