Incidental Mutation 'IGL03219:Fzd6'
| ID |
413577 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fzd6
|
| Ensembl Gene |
ENSMUSG00000022297 |
| Gene Name |
frizzled class receptor 6 |
| Synonyms |
rst, Fz6 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03219
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
38869673-38901587 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38894971 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 379
(V379E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022906]
[ENSMUST00000179165]
|
| AlphaFold |
Q61089 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022906
AA Change: V379E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022906
Gene: ENSMUSG00000022297
AA Change: V379E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
FRI
|
23 |
134 |
9.66e-59 |
SMART |
|
Frizzled
|
188 |
513 |
4.88e-184 |
SMART |
|
low complexity region
|
532 |
543 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179165
AA Change: V379E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136328
Gene: ENSMUSG00000022297
AA Change: V379E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
FRI
|
23 |
134 |
9.66e-59 |
SMART |
|
Frizzled
|
188 |
513 |
4.88e-184 |
SMART |
|
low complexity region
|
532 |
543 |
N/A |
INTRINSIC |
|
| 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 represents a member of the 'frizzled' gene family, which encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The protein encoded by this family member contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, and seven transmembrane domains, but unlike other family members, this protein does not contain a C-terminal PDZ domain-binding motif. This protein functions as a negative regulator of the canonical Wnt/beta-catenin signaling cascade, thereby inhibiting the processes that trigger oncogenic transformation, cell proliferation, and inhibition of apoptosis. Alternative splicing results in multiple transcript variants, some of which do not encode a protein with a predicted signal peptide.[provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous mice for one mutation display abnormal hair follicle orientation. Another 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Clasp2 |
T |
C |
9: 113,677,545 (GRCm39) |
|
probably benign |
Het |
| Ctss |
C |
T |
3: 95,450,411 (GRCm39) |
R121W |
possibly damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,631,738 (GRCm39) |
M153K |
possibly damaging |
Het |
| Cyp2d34 |
T |
C |
15: 82,502,740 (GRCm39) |
H162R |
probably benign |
Het |
| Dynlrb2 |
A |
T |
8: 117,241,635 (GRCm39) |
I60F |
probably benign |
Het |
| E4f1 |
C |
T |
17: 24,664,419 (GRCm39) |
|
probably null |
Het |
| Galnt13 |
T |
C |
2: 54,823,447 (GRCm39) |
V341A |
possibly damaging |
Het |
| Hip1 |
T |
C |
5: 135,485,904 (GRCm39) |
S100G |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,975,169 (GRCm39) |
|
probably benign |
Het |
| Obox3 |
G |
A |
7: 15,359,803 (GRCm39) |
L289F |
probably damaging |
Het |
| Or52s6 |
C |
T |
7: 103,091,745 (GRCm39) |
G195E |
possibly damaging |
Het |
| Or8b50 |
G |
T |
9: 38,518,247 (GRCm39) |
C162F |
probably benign |
Het |
| Pkhd1l1 |
G |
A |
15: 44,460,291 (GRCm39) |
E4167K |
possibly damaging |
Het |
| Pphln1 |
T |
C |
15: 93,363,136 (GRCm39) |
|
probably benign |
Het |
| Ranbp6 |
A |
T |
19: 29,787,680 (GRCm39) |
W891R |
probably damaging |
Het |
| Rgs22 |
A |
T |
15: 36,107,194 (GRCm39) |
L64Q |
probably damaging |
Het |
| Ripor2 |
A |
T |
13: 24,907,702 (GRCm39) |
Y991F |
probably damaging |
Het |
| Senp2 |
T |
A |
16: 21,833,014 (GRCm39) |
|
probably benign |
Het |
| Slc44a3 |
G |
A |
3: 121,257,169 (GRCm39) |
T508I |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,938,855 (GRCm39) |
D731G |
probably benign |
Het |
| Thnsl1 |
T |
A |
2: 21,217,217 (GRCm39) |
C324S |
probably benign |
Het |
| Tnfrsf11b |
A |
T |
15: 54,117,574 (GRCm39) |
L227* |
probably null |
Het |
| Tulp4 |
T |
C |
17: 6,189,285 (GRCm39) |
C36R |
probably damaging |
Het |
|
| Other mutations in Fzd6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02470:Fzd6
|
APN |
15 |
38,899,952 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02500:Fzd6
|
APN |
15 |
38,894,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02938:Fzd6
|
APN |
15 |
38,897,285 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0314:Fzd6
|
UTSW |
15 |
38,889,128 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0458:Fzd6
|
UTSW |
15 |
38,894,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0478:Fzd6
|
UTSW |
15 |
38,897,429 (GRCm39) |
splice site |
probably null |
|
|
R0961:Fzd6
|
UTSW |
15 |
38,889,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1473:Fzd6
|
UTSW |
15 |
38,894,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1479:Fzd6
|
UTSW |
15 |
38,894,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1533:Fzd6
|
UTSW |
15 |
38,895,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1731:Fzd6
|
UTSW |
15 |
38,894,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1836:Fzd6
|
UTSW |
15 |
38,897,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2241:Fzd6
|
UTSW |
15 |
38,894,931 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5089:Fzd6
|
UTSW |
15 |
38,870,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5526:Fzd6
|
UTSW |
15 |
38,894,559 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5666:Fzd6
|
UTSW |
15 |
38,894,510 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5670:Fzd6
|
UTSW |
15 |
38,894,510 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5903:Fzd6
|
UTSW |
15 |
38,870,783 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R6221:Fzd6
|
UTSW |
15 |
38,894,239 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6944:Fzd6
|
UTSW |
15 |
38,889,212 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7731:Fzd6
|
UTSW |
15 |
38,897,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7922:Fzd6
|
UTSW |
15 |
38,894,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8195:Fzd6
|
UTSW |
15 |
38,894,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8985:Fzd6
|
UTSW |
15 |
38,895,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9196:Fzd6
|
UTSW |
15 |
38,895,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9196:Fzd6
|
UTSW |
15 |
38,895,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9212:Fzd6
|
UTSW |
15 |
38,898,289 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9276:Fzd6
|
UTSW |
15 |
38,870,962 (GRCm39) |
splice site |
probably benign |
|
|
R9350:Fzd6
|
UTSW |
15 |
38,895,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9384:Fzd6
|
UTSW |
15 |
38,895,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9384:Fzd6
|
UTSW |
15 |
38,895,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9650:Fzd6
|
UTSW |
15 |
38,894,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Fzd6
|
UTSW |
15 |
38,894,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Fzd6
|
UTSW |
15 |
38,870,956 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
| Posted On |
2016-08-02 |
Incidental Mutation