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 |