Incidental Mutation 'IGL00155:Fzd10'
ID |
1618 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fzd10
|
Ensembl Gene |
ENSMUSG00000081683 |
Gene Name |
frizzled class receptor 10 |
Synonyms |
Fz-10 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00155
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
128678170-128681157 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 128678592 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 104
(I104N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114114
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117102]
|
AlphaFold |
Q8BKG4 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000091324
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117102
AA Change: I104N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000114114 Gene: ENSMUSG00000081683 AA Change: I104N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
FRI
|
34 |
153 |
7.83e-68 |
SMART |
Frizzled
|
218 |
542 |
2.62e-207 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126472
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134673
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154305
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199981
|
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 7-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. Using array analysis, expression of this intronless gene is significantly up-regulated in two cases of primary colon cancer. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous 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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
T |
C |
5: 125,590,235 (GRCm39) |
F498S |
probably damaging |
Het |
Arhgap11a |
A |
G |
2: 113,664,601 (GRCm39) |
S561P |
probably benign |
Het |
Best3 |
T |
C |
10: 116,824,632 (GRCm39) |
Y33H |
probably damaging |
Het |
Cd209b |
T |
A |
8: 3,969,945 (GRCm39) |
|
probably benign |
Het |
Cep152 |
A |
G |
2: 125,405,808 (GRCm39) |
S1575P |
probably benign |
Het |
Crabp2 |
A |
G |
3: 87,859,506 (GRCm39) |
Y52C |
probably damaging |
Het |
Crybg1 |
T |
C |
10: 43,868,505 (GRCm39) |
D1017G |
probably damaging |
Het |
Ctnna2 |
A |
T |
6: 76,957,744 (GRCm39) |
W137R |
probably damaging |
Het |
Cxcl9 |
T |
A |
5: 92,471,728 (GRCm39) |
H104L |
possibly damaging |
Het |
Ddr2 |
A |
G |
1: 169,811,996 (GRCm39) |
I742T |
possibly damaging |
Het |
Frem1 |
A |
G |
4: 82,877,626 (GRCm39) |
V223A |
possibly damaging |
Het |
Greb1 |
A |
G |
12: 16,761,962 (GRCm39) |
S473P |
probably damaging |
Het |
Gtf2i |
T |
C |
5: 134,271,602 (GRCm39) |
Y873C |
probably damaging |
Het |
Igsf6 |
T |
A |
7: 120,669,876 (GRCm39) |
K89* |
probably null |
Het |
Ints3 |
A |
G |
3: 90,313,636 (GRCm39) |
F331L |
probably damaging |
Het |
Kcnh3 |
A |
T |
15: 99,140,354 (GRCm39) |
H1080L |
possibly damaging |
Het |
Mettl15 |
A |
T |
2: 108,923,521 (GRCm39) |
Y300* |
probably null |
Het |
Mms19 |
A |
G |
19: 41,936,672 (GRCm39) |
F654L |
probably benign |
Het |
Myc |
A |
G |
15: 61,861,669 (GRCm39) |
H425R |
probably benign |
Het |
Ntn1 |
G |
T |
11: 68,117,445 (GRCm39) |
|
probably benign |
Het |
Ormdl2 |
C |
A |
10: 128,655,944 (GRCm39) |
G69W |
probably damaging |
Het |
Pdpr |
T |
C |
8: 111,828,704 (GRCm39) |
V69A |
possibly damaging |
Het |
Rbbp6 |
T |
C |
7: 122,587,908 (GRCm39) |
I254T |
probably damaging |
Het |
Sema6d |
A |
G |
2: 124,501,785 (GRCm39) |
R543G |
possibly damaging |
Het |
Slc18a1 |
C |
T |
8: 69,503,998 (GRCm39) |
A314T |
probably damaging |
Het |
Slc22a26 |
A |
G |
19: 7,760,201 (GRCm39) |
L514P |
probably damaging |
Het |
Slc22a28 |
A |
C |
19: 8,107,567 (GRCm39) |
S167A |
possibly damaging |
Het |
Speer1m |
A |
G |
5: 11,971,377 (GRCm39) |
S110G |
possibly damaging |
Het |
Tchh |
A |
G |
3: 93,352,606 (GRCm39) |
E682G |
unknown |
Het |
Thbs2 |
A |
T |
17: 14,889,097 (GRCm39) |
M1134K |
probably damaging |
Het |
Tmem26 |
A |
G |
10: 68,611,184 (GRCm39) |
S218G |
probably damaging |
Het |
Tmprss11c |
A |
T |
5: 86,387,254 (GRCm39) |
S208R |
probably benign |
Het |
Tnfrsf8 |
T |
C |
4: 145,019,161 (GRCm39) |
|
probably null |
Het |
Ush2a |
T |
C |
1: 188,596,875 (GRCm39) |
S3872P |
probably benign |
Het |
Vmn1r69 |
T |
C |
7: 10,313,879 (GRCm39) |
N205S |
probably benign |
Het |
Vmn2r54 |
T |
A |
7: 12,365,840 (GRCm39) |
|
probably benign |
Het |
Wwtr1 |
A |
T |
3: 57,370,942 (GRCm39) |
M328K |
possibly damaging |
Het |
Zfp64 |
G |
A |
2: 168,768,601 (GRCm39) |
S337L |
probably benign |
Het |
|
Other mutations in Fzd10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02354:Fzd10
|
APN |
5 |
128,678,932 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02361:Fzd10
|
APN |
5 |
128,678,932 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL03088:Fzd10
|
APN |
5 |
128,679,669 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0530:Fzd10
|
UTSW |
5 |
128,679,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R0645:Fzd10
|
UTSW |
5 |
128,679,662 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1515:Fzd10
|
UTSW |
5 |
128,679,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R3930:Fzd10
|
UTSW |
5 |
128,679,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R4467:Fzd10
|
UTSW |
5 |
128,678,340 (GRCm39) |
missense |
probably benign |
0.01 |
R4976:Fzd10
|
UTSW |
5 |
128,679,178 (GRCm39) |
nonsense |
probably null |
|
R5156:Fzd10
|
UTSW |
5 |
128,678,366 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5202:Fzd10
|
UTSW |
5 |
128,679,180 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5874:Fzd10
|
UTSW |
5 |
128,678,364 (GRCm39) |
missense |
probably benign |
0.41 |
R6238:Fzd10
|
UTSW |
5 |
128,679,995 (GRCm39) |
missense |
probably damaging |
0.99 |
R6921:Fzd10
|
UTSW |
5 |
128,678,646 (GRCm39) |
missense |
probably damaging |
0.99 |
R7684:Fzd10
|
UTSW |
5 |
128,678,480 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8093:Fzd10
|
UTSW |
5 |
128,679,303 (GRCm39) |
missense |
probably benign |
0.14 |
R9011:Fzd10
|
UTSW |
5 |
128,679,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R9013:Fzd10
|
UTSW |
5 |
128,679,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R9014:Fzd10
|
UTSW |
5 |
128,679,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R9332:Fzd10
|
UTSW |
5 |
128,678,316 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9603:Fzd10
|
UTSW |
5 |
128,678,771 (GRCm39) |
missense |
probably benign |
0.00 |
Z1088:Fzd10
|
UTSW |
5 |
128,678,310 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2011-07-12 |