Incidental Mutation 'PIT4495001:Fzd7'
| ID |
555942 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fzd7
|
| Ensembl Gene |
ENSMUSG00000041075 |
| Gene Name |
frizzled class receptor 7 |
| Synonyms |
Fz7 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.506)
|
| Stock # |
PIT4495001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
59521583-59526114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59523466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 450
(T450A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114246]
|
| AlphaFold |
Q61090 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114246
AA Change: T450A
PolyPhen 2
Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109884
Gene: ENSMUSG00000041075
AA Change: T450A
| 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 |
|
| Coding Region Coverage |
- 1x: 93.1%
- 3x: 90.6%
- 10x: 84.0%
- 20x: 69.8%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
T |
A |
1: 156,460,755 (GRCm39) |
V384D |
probably damaging |
Het |
| Adamts7 |
A |
G |
9: 90,056,675 (GRCm39) |
E248G |
probably damaging |
Het |
| Aff1 |
A |
G |
5: 103,997,391 (GRCm39) |
T1162A |
probably benign |
Het |
| Ank3 |
C |
A |
10: 69,828,902 (GRCm39) |
H2524N |
|
Het |
| Aoc1l3 |
A |
T |
6: 48,964,710 (GRCm39) |
E239D |
possibly damaging |
Het |
| Cct7 |
T |
A |
6: 85,436,943 (GRCm39) |
N60K |
probably damaging |
Het |
| Cfap43 |
A |
C |
19: 47,885,741 (GRCm39) |
C291W |
probably damaging |
Het |
| Cobl |
G |
A |
11: 12,204,596 (GRCm39) |
T702I |
probably benign |
Het |
| Col5a1 |
C |
A |
2: 27,914,788 (GRCm39) |
Q1624K |
unknown |
Het |
| Cubn |
T |
A |
2: 13,496,561 (GRCm39) |
T22S |
probably benign |
Het |
| Def8 |
A |
C |
8: 124,186,292 (GRCm39) |
M344L |
probably benign |
Het |
| Gm11214 |
G |
A |
4: 63,580,922 (GRCm39) |
L76F |
probably benign |
Het |
| Gm5797 |
T |
C |
14: 7,329,530 (GRCm38) |
T153A |
probably benign |
Het |
| Gsk3a |
A |
C |
7: 24,935,064 (GRCm39) |
S129A |
probably damaging |
Het |
| Intu |
A |
G |
3: 40,652,033 (GRCm39) |
Q830R |
probably benign |
Het |
| Kcnma1 |
C |
T |
14: 23,475,665 (GRCm39) |
V750I |
probably benign |
Het |
| Mlh1 |
T |
A |
9: 111,076,328 (GRCm39) |
Y343F |
probably benign |
Het |
| Myb |
C |
T |
10: 21,028,521 (GRCm39) |
R114H |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,102,748 (GRCm39) |
D4508E |
probably benign |
Het |
| Nell2 |
T |
C |
15: 95,281,608 (GRCm39) |
D366G |
probably benign |
Het |
| Or1o3 |
A |
C |
17: 37,573,721 (GRCm39) |
V278G |
possibly damaging |
Het |
| Or4d6 |
A |
G |
19: 12,086,076 (GRCm39) |
I52T |
possibly damaging |
Het |
| Or5ac25 |
A |
C |
16: 59,181,871 (GRCm39) |
F237V |
probably damaging |
Het |
| Or5h26 |
G |
T |
16: 58,988,337 (GRCm39) |
H56Q |
possibly damaging |
Het |
| Or7a38 |
T |
C |
10: 78,752,821 (GRCm39) |
V49A |
probably benign |
Het |
| Pcdhgc5 |
C |
T |
18: 37,954,030 (GRCm39) |
H435Y |
possibly damaging |
Het |
| Pira12 |
A |
T |
7: 3,900,457 (GRCm39) |
C98S |
probably damaging |
Het |
| Pnpla7 |
T |
A |
2: 24,932,151 (GRCm39) |
D935E |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,451,780 (GRCm39) |
E874G |
probably damaging |
Het |
| Psd3 |
A |
C |
8: 68,416,565 (GRCm39) |
I158R |
probably benign |
Het |
| Pzp |
C |
A |
6: 128,479,192 (GRCm39) |
V654L |
probably benign |
Het |
| Rabep1 |
A |
G |
11: 70,808,405 (GRCm39) |
T454A |
probably damaging |
Het |
| Rad54l2 |
C |
A |
9: 106,593,343 (GRCm39) |
S419I |
probably benign |
Het |
| Rin3 |
A |
G |
12: 102,335,295 (GRCm39) |
D402G |
probably benign |
Het |
| Ripk4 |
T |
C |
16: 97,544,370 (GRCm39) |
H759R |
probably damaging |
Het |
| Rlig1 |
A |
T |
10: 100,419,812 (GRCm39) |
F90I |
probably damaging |
Het |
| Sbsn |
GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA |
GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA |
7: 30,452,391 (GRCm39) |
|
probably benign |
Het |
| Sf3a3 |
C |
T |
4: 124,622,113 (GRCm39) |
P391L |
probably damaging |
Het |
| Snx9 |
T |
A |
17: 5,970,401 (GRCm39) |
I379K |
possibly damaging |
Het |
| Syt5 |
A |
C |
7: 4,544,077 (GRCm39) |
|
probably null |
Het |
| Tex47 |
A |
G |
5: 7,355,011 (GRCm39) |
D64G |
probably benign |
Het |
| Zbbx |
C |
A |
3: 74,968,944 (GRCm39) |
W509L |
probably damaging |
Het |
| Zer1 |
T |
C |
2: 29,993,555 (GRCm39) |
K551R |
probably benign |
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 |
|
IGL02647:Fzd7
|
APN |
1 |
59,523,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATCACCATTTTGGCCATGGG -3'
(R):5'- TGTAAAGTCGGGGCTCATG -3'
Sequencing Primer
(F):5'- GCCAGGTGGATGGTGACCTAC -3'
(R):5'- CTCATGGGAGAGAAGTGGCCC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation