Incidental Mutation 'R5487:Fzd4'
| ID |
430413 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fzd4
|
| Ensembl Gene |
ENSMUSG00000049791 |
| Gene Name |
frizzled class receptor 4 |
| Synonyms |
Fz4 |
| MMRRC Submission |
043048-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.910)
|
| Stock # |
R5487 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
89053574-89062341 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89056615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 221
(I221V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049852
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058755]
|
| AlphaFold |
Q61088 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058755
AA Change: I221V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000049852
Gene: ENSMUSG00000049791
AA Change: I221V
| 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 |
- 1x: 98.2%
- 3x: 97.1%
- 10x: 94.6%
- 20x: 89.0%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
G |
11: 109,844,340 (GRCm39) |
V959A |
probably damaging |
Het |
| Alg3 |
A |
T |
16: 20,426,530 (GRCm39) |
I115N |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,888,733 (GRCm39) |
D204G |
probably benign |
Het |
| Camta1 |
C |
A |
4: 151,229,211 (GRCm39) |
E540D |
possibly damaging |
Het |
| Cblc |
T |
C |
7: 19,518,733 (GRCm39) |
T413A |
probably benign |
Het |
| Ccdc122 |
T |
A |
14: 77,329,119 (GRCm39) |
H57Q |
probably benign |
Het |
| Ccdc85a |
A |
T |
11: 28,526,768 (GRCm39) |
L280* |
probably null |
Het |
| Cd46 |
T |
G |
1: 194,750,478 (GRCm39) |
|
probably null |
Het |
| Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
| Dnaaf3 |
T |
C |
7: 4,526,864 (GRCm39) |
|
probably null |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Ecpas |
T |
C |
4: 58,809,421 (GRCm39) |
D1651G |
probably benign |
Het |
| Eif2ak1 |
A |
G |
5: 143,833,981 (GRCm39) |
|
probably null |
Het |
| Erich4 |
A |
G |
7: 25,314,664 (GRCm39) |
M83T |
probably benign |
Het |
| Fbxo24 |
C |
T |
5: 137,617,094 (GRCm39) |
G331E |
possibly damaging |
Het |
| G6pc2 |
T |
C |
2: 69,056,921 (GRCm39) |
V189A |
probably damaging |
Het |
| Gm10663 |
A |
C |
8: 65,527,686 (GRCm39) |
E1A |
probably null |
Het |
| Gm4871 |
C |
A |
5: 144,967,199 (GRCm39) |
E178D |
probably damaging |
Het |
| Igdcc3 |
A |
G |
9: 65,088,866 (GRCm39) |
E415G |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,733,272 (GRCm39) |
|
probably benign |
Het |
| Krba1 |
T |
C |
6: 48,380,973 (GRCm39) |
V103A |
probably damaging |
Het |
| Lcat |
T |
C |
8: 106,666,296 (GRCm39) |
K409E |
probably benign |
Het |
| Lrriq4 |
C |
A |
3: 30,714,144 (GRCm39) |
N497K |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,919,842 (GRCm39) |
T451A |
probably damaging |
Het |
| Noxo1 |
C |
T |
17: 24,917,291 (GRCm39) |
|
probably benign |
Het |
| Oas1a |
A |
G |
5: 121,045,490 (GRCm39) |
I17T |
probably damaging |
Het |
| Otog |
A |
T |
7: 45,938,192 (GRCm39) |
Y1967F |
probably benign |
Het |
| Pcdha9 |
A |
T |
18: 37,132,703 (GRCm39) |
N591Y |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,494,218 (GRCm39) |
Y133H |
probably damaging |
Het |
| Pou5f2 |
T |
C |
13: 78,173,118 (GRCm39) |
L20P |
probably benign |
Het |
| Prkcb |
T |
A |
7: 122,199,948 (GRCm39) |
C586* |
probably null |
Het |
| Sema3b |
A |
T |
9: 107,478,161 (GRCm39) |
M408K |
probably damaging |
Het |
| Serpinf2 |
G |
A |
11: 75,324,031 (GRCm39) |
T332I |
probably damaging |
Het |
| Tmbim1 |
A |
G |
1: 74,332,164 (GRCm39) |
V121A |
probably benign |
Het |
| Tph2 |
C |
T |
10: 114,955,779 (GRCm39) |
G338D |
probably damaging |
Het |
| Trpc2 |
GTGTCCTA |
GTGTCCTATGTCCTA |
7: 101,744,420 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,642,896 (GRCm39) |
V13247M |
probably damaging |
Het |
| Uty |
C |
T |
Y: 1,174,825 (GRCm39) |
G192R |
probably damaging |
Het |
| Vmn2r65 |
G |
T |
7: 84,595,529 (GRCm39) |
P385Q |
possibly damaging |
Het |
| Wdfy3 |
G |
A |
5: 101,984,140 (GRCm39) |
R3489W |
probably damaging |
Het |
| Zfp750 |
A |
G |
11: 121,404,558 (GRCm39) |
S106P |
probably benign |
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 |
|
IGL03393:Fzd4
|
APN |
7 |
89,056,505 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGATGAAGAGGTTCCCTTGCC -3'
(R):5'- CCTTCTTGGATGAGAACGGG -3'
Sequencing Primer
(F):5'- TTGCCCCACAAGACTCCCATC -3'
(R):5'- AATCACAGGATATCCTTTCCCGG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation