Incidental Mutation 'IGL02647:Fzd7'
| ID |
301992 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fzd7
|
| Ensembl Gene |
ENSMUSG00000041075 |
| Gene Name |
frizzled class receptor 7 |
| Synonyms |
Fz7 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.511)
|
| Stock # |
IGL02647
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
59521583-59526114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 59523554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 479
(P479Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114246]
|
| AlphaFold |
Q61090 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114246
AA Change: P479Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109884
Gene: ENSMUSG00000041075
AA Change: P479Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
FRI
|
48 |
165 |
6.21e-71 |
SMART |
|
Frizzled
|
241 |
565 |
1.64e-217 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180778
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD7 protein contains an N-terminal signal sequence, 10 cysteine residues typical of the cysteine-rich extracellular domain of Fz family members, 7 putative transmembrane domains, and an intracellular C-terminal tail with a PDZ domain-binding motif. FZD7 gene expression may downregulate APC function and enhance beta-catenin-mediated signals in poorly differentiated human esophageal carcinomas. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit a shorter tail with a distal kink with full penetrance as well as cardiac defects with low penetrance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
A |
T |
14: 29,712,847 (GRCm39) |
R497W |
probably damaging |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Bmx |
T |
C |
X: 162,988,231 (GRCm39) |
E495G |
probably damaging |
Het |
| Cbx5 |
T |
C |
15: 103,109,330 (GRCm39) |
|
probably null |
Het |
| Cenpj |
C |
T |
14: 56,767,536 (GRCm39) |
V1203M |
probably damaging |
Het |
| Ces1b |
T |
C |
8: 93,783,672 (GRCm39) |
H516R |
probably benign |
Het |
| D430041D05Rik |
T |
C |
2: 104,078,611 (GRCm39) |
N1235S |
probably damaging |
Het |
| Depdc1a |
A |
T |
3: 159,228,503 (GRCm39) |
K418N |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,114,355 (GRCm39) |
V1215M |
probably damaging |
Het |
| Flacc1 |
T |
C |
1: 58,709,613 (GRCm39) |
T181A |
probably benign |
Het |
| Foxf2 |
A |
T |
13: 31,811,218 (GRCm39) |
N386Y |
probably damaging |
Het |
| Frem1 |
A |
T |
4: 82,919,991 (GRCm39) |
V455E |
probably damaging |
Het |
| Hnmt |
G |
A |
2: 23,904,319 (GRCm39) |
S114F |
possibly damaging |
Het |
| Irf3 |
A |
G |
7: 44,649,800 (GRCm39) |
N6S |
probably benign |
Het |
| Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,267,038 (GRCm39) |
D1576G |
probably benign |
Het |
| Lsg1 |
A |
T |
16: 30,404,370 (GRCm39) |
|
probably null |
Het |
| Mal2 |
T |
C |
15: 54,451,833 (GRCm39) |
F85L |
probably damaging |
Het |
| Me2 |
A |
C |
18: 73,930,974 (GRCm39) |
S106R |
probably benign |
Het |
| Med21 |
T |
C |
6: 146,550,731 (GRCm39) |
S81P |
probably benign |
Het |
| Mos |
T |
C |
4: 3,870,961 (GRCm39) |
Y285C |
probably damaging |
Het |
| Mtmr1 |
A |
G |
X: 70,436,939 (GRCm39) |
N256S |
probably damaging |
Het |
| Or7e174 |
T |
A |
9: 20,012,505 (GRCm39) |
M150K |
probably benign |
Het |
| Prl3d2 |
A |
C |
13: 27,309,999 (GRCm39) |
T155P |
probably benign |
Het |
| R3hdm2 |
C |
T |
10: 127,295,353 (GRCm39) |
S240L |
probably damaging |
Het |
| Semp2l2a |
T |
C |
8: 13,886,979 (GRCm39) |
T371A |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,985,088 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
A |
G |
15: 37,992,326 (GRCm39) |
S1933P |
probably damaging |
Het |
| Veph1 |
A |
T |
3: 66,066,869 (GRCm39) |
|
probably benign |
Het |
| Xpo7 |
A |
G |
14: 70,922,905 (GRCm39) |
F557S |
probably damaging |
Het |
| Zfp647 |
T |
C |
15: 76,801,915 (GRCm39) |
E30G |
probably damaging |
Het |
| Zfp655 |
A |
T |
5: 145,179,816 (GRCm39) |
I75L |
probably benign |
Het |
| Zfp981 |
C |
A |
4: 146,621,709 (GRCm39) |
Y211* |
probably null |
Het |
|
| Other mutations in Fzd7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01025:Fzd7
|
APN |
1 |
59,523,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01505:Fzd7
|
APN |
1 |
59,523,062 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4495001:Fzd7
|
UTSW |
1 |
59,523,466 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0479:Fzd7
|
UTSW |
1 |
59,522,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0551:Fzd7
|
UTSW |
1 |
59,522,443 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0639:Fzd7
|
UTSW |
1 |
59,523,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1587:Fzd7
|
UTSW |
1 |
59,522,165 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2056:Fzd7
|
UTSW |
1 |
59,523,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2566:Fzd7
|
UTSW |
1 |
59,523,695 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2890:Fzd7
|
UTSW |
1 |
59,523,593 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4078:Fzd7
|
UTSW |
1 |
59,522,948 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4306:Fzd7
|
UTSW |
1 |
59,523,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4744:Fzd7
|
UTSW |
1 |
59,523,595 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5249:Fzd7
|
UTSW |
1 |
59,522,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5740:Fzd7
|
UTSW |
1 |
59,522,839 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5997:Fzd7
|
UTSW |
1 |
59,523,703 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6136:Fzd7
|
UTSW |
1 |
59,522,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6170:Fzd7
|
UTSW |
1 |
59,523,004 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6476:Fzd7
|
UTSW |
1 |
59,523,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7234:Fzd7
|
UTSW |
1 |
59,522,443 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7753:Fzd7
|
UTSW |
1 |
59,522,641 (GRCm39) |
missense |
probably benign |
|
|
R8322:Fzd7
|
UTSW |
1 |
59,522,242 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9066:Fzd7
|
UTSW |
1 |
59,521,991 (GRCm39) |
start gained |
probably benign |
|
|
R9188:Fzd7
|
UTSW |
1 |
59,523,797 (GRCm39) |
missense |
probably benign |
|
|
R9255:Fzd7
|
UTSW |
1 |
59,522,495 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9326:Fzd7
|
UTSW |
1 |
59,522,837 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9458:Fzd7
|
UTSW |
1 |
59,523,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Fzd7
|
UTSW |
1 |
59,523,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation