Incidental Mutation 'IGL01458:Fzd4'
ID |
84892 |
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: 0.910)
|
Stock # |
IGL01458
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
89053574-89062341 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 89053943 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 17
(V17I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049852
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058755]
|
AlphaFold |
Q61088 |
Predicted Effect |
unknown
Transcript: ENSMUST00000058755
AA Change: V17I
|
SMART Domains |
Protein: ENSMUSP00000049852 Gene: ENSMUSG00000049791 AA Change: V17I
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433N12Rik |
A |
T |
9: 3,134,008 (GRCm39) |
|
noncoding transcript |
Het |
Akap12 |
A |
G |
10: 4,304,060 (GRCm39) |
E290G |
probably damaging |
Het |
Akap6 |
T |
A |
12: 52,933,601 (GRCm39) |
C364* |
probably null |
Het |
Akr1c18 |
A |
T |
13: 4,187,143 (GRCm39) |
Y198N |
probably damaging |
Het |
Aurka |
T |
C |
2: 172,210,899 (GRCm39) |
|
probably benign |
Het |
Bloc1s6 |
T |
A |
2: 122,586,135 (GRCm39) |
|
probably null |
Het |
Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
Csn2 |
T |
C |
5: 87,843,879 (GRCm39) |
|
probably benign |
Het |
Dsc1 |
T |
C |
18: 20,232,195 (GRCm39) |
E271G |
probably damaging |
Het |
Eif1ad4 |
A |
T |
12: 87,862,158 (GRCm39) |
K7* |
probably null |
Het |
Evi5 |
G |
A |
5: 107,963,513 (GRCm39) |
A354V |
probably damaging |
Het |
Fcer2a |
T |
A |
8: 3,738,151 (GRCm39) |
R137S |
probably benign |
Het |
Fto |
A |
G |
8: 92,168,344 (GRCm39) |
T266A |
probably benign |
Het |
Gadd45b |
T |
C |
10: 80,767,075 (GRCm39) |
L105P |
probably damaging |
Het |
Galntl6 |
T |
C |
8: 58,880,743 (GRCm39) |
S137G |
probably damaging |
Het |
Gpr135 |
T |
C |
12: 72,116,442 (GRCm39) |
M442V |
probably benign |
Het |
Kcnq1 |
T |
A |
7: 142,748,015 (GRCm39) |
Y330* |
probably null |
Het |
Kdm5b |
A |
G |
1: 134,549,724 (GRCm39) |
R1106G |
possibly damaging |
Het |
Lrrc8e |
C |
T |
8: 4,286,141 (GRCm39) |
R789W |
probably damaging |
Het |
Myo16 |
T |
C |
8: 10,485,853 (GRCm39) |
L644P |
probably damaging |
Het |
Nbeal1 |
G |
T |
1: 60,281,784 (GRCm39) |
|
probably null |
Het |
Nlrp4c |
T |
C |
7: 6,103,783 (GRCm39) |
C906R |
possibly damaging |
Het |
Or10ag56 |
C |
T |
2: 87,139,826 (GRCm39) |
T251I |
probably damaging |
Het |
Or1e29 |
A |
T |
11: 73,667,532 (GRCm39) |
I207N |
probably benign |
Het |
Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
Ovgp1 |
A |
G |
3: 105,882,307 (GRCm39) |
N70D |
probably benign |
Het |
Panx3 |
A |
T |
9: 37,572,443 (GRCm39) |
M369K |
probably damaging |
Het |
Plet1 |
A |
G |
9: 50,406,017 (GRCm39) |
N52S |
probably benign |
Het |
Prss1l |
T |
G |
6: 41,373,621 (GRCm39) |
D161E |
probably benign |
Het |
Psg18 |
A |
T |
7: 18,088,741 (GRCm39) |
M1K |
probably null |
Het |
Ptprz1 |
A |
T |
6: 22,972,843 (GRCm39) |
D251V |
probably damaging |
Het |
Serpinb6a |
A |
G |
13: 34,114,064 (GRCm39) |
Y88H |
possibly damaging |
Het |
Siglecf |
G |
A |
7: 43,004,562 (GRCm39) |
R297Q |
possibly damaging |
Het |
Tbx15 |
T |
C |
3: 99,223,544 (GRCm39) |
V244A |
probably damaging |
Het |
Top2a |
A |
T |
11: 98,901,856 (GRCm39) |
L458Q |
probably damaging |
Het |
Trim39 |
A |
G |
17: 36,574,855 (GRCm39) |
|
probably benign |
Het |
Vps37c |
T |
C |
19: 10,687,781 (GRCm39) |
C81R |
probably damaging |
Het |
Wdr62 |
A |
T |
7: 29,941,187 (GRCm39) |
S744T |
probably benign |
Het |
Zyg11a |
G |
A |
4: 108,062,099 (GRCm39) |
T234I |
probably 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 |
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 |
|
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 |
2013-11-11 |