Incidental Mutation 'IGL03346:Fzr1'
| ID |
417466 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fzr1
|
| Ensembl Gene |
ENSMUSG00000020235 |
| Gene Name |
fizzy and cell division cycle 20 related 1 |
| Synonyms |
Fyr, Cdh1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03346
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
81202713-81214204 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 81205018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 300
(T300A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020457
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020456]
[ENSMUST00000020457]
[ENSMUST00000044844]
[ENSMUST00000118812]
[ENSMUST00000140901]
|
| AlphaFold |
Q9R1K5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020456
|
| SMART Domains |
Protein: ENSMUSP00000020456
Gene: ENSMUSG00000020234
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4531
|
23 |
204 |
1.3e-113 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020457
AA Change: T300A
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000020457
Gene: ENSMUSG00000020235
AA Change: T300A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
172 |
213 |
8e-21 |
BLAST |
|
WD40
|
218 |
257 |
1.2e-2 |
SMART |
|
WD40
|
260 |
297 |
6.79e-2 |
SMART |
|
WD40
|
302 |
341 |
3.55e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044844
|
| SMART Domains |
Protein: ENSMUSP00000036116
Gene: ENSMUSG00000034854
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:MFS_2
|
20 |
423 |
5.2e-43 |
PFAM |
|
Pfam:MFS_1
|
154 |
416 |
6.8e-12 |
PFAM |
|
transmembrane domain
|
441 |
463 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
476 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118812
AA Change: T211A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000112868
Gene: ENSMUSG00000020235
AA Change: T211A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
129 |
168 |
5.6e-3 |
SMART |
|
WD40
|
171 |
208 |
6.79e-2 |
SMART |
|
WD40
|
213 |
252 |
3.99e-8 |
SMART |
|
WD40
|
255 |
297 |
2.84e-4 |
SMART |
|
WD40
|
300 |
340 |
1.98e1 |
SMART |
|
WD40
|
343 |
382 |
1.11e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124512
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130762
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131736
|
| SMART Domains |
Protein: ENSMUSP00000123068
Gene: ENSMUSG00000020234
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4531
|
1 |
128 |
2.6e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140901
AA Change: T300A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114203
Gene: ENSMUSG00000020235
AA Change: T300A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
172 |
213 |
1e-19 |
BLAST |
|
WD40
|
218 |
257 |
1.2e-2 |
SMART |
|
WD40
|
260 |
297 |
6.79e-2 |
SMART |
|
WD40
|
302 |
341 |
3.99e-8 |
SMART |
|
WD40
|
344 |
386 |
2.84e-4 |
SMART |
|
WD40
|
389 |
429 |
1.98e1 |
SMART |
|
WD40
|
432 |
471 |
1.11e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138343
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150824
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mutants die embryonically at around E9.5-E12.5 with poorly developed placentae, no placental giant cells and/or erythroblast deficiency. Homozygous MEFs undergo premature senescence. Heterozygotes exhibit learning/memory defects and/or elevatedspontaneous epithelial tumor incidence. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp13a5 |
C |
T |
16: 29,133,422 (GRCm39) |
V410M |
probably benign |
Het |
| Cdkn2aip |
G |
T |
8: 48,166,653 (GRCm39) |
D51E |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,802,282 (GRCm39) |
V2184A |
probably benign |
Het |
| Clcn1 |
C |
T |
6: 42,288,153 (GRCm39) |
T797I |
probably benign |
Het |
| Cldn23 |
G |
A |
8: 36,292,594 (GRCm39) |
|
probably benign |
Het |
| Cntnap4 |
A |
G |
8: 113,500,208 (GRCm39) |
D500G |
probably benign |
Het |
| Cog5 |
A |
T |
12: 31,944,037 (GRCm39) |
I641F |
possibly damaging |
Het |
| Cr2 |
A |
T |
1: 194,852,067 (GRCm39) |
V94E |
probably damaging |
Het |
| Creg2 |
T |
G |
1: 39,689,915 (GRCm39) |
D65A |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,795,808 (GRCm39) |
R711G |
possibly damaging |
Het |
| Efr3b |
A |
G |
12: 4,034,648 (GRCm39) |
V58A |
probably damaging |
Het |
| Fbxo3 |
A |
G |
2: 103,880,639 (GRCm39) |
T250A |
probably damaging |
Het |
| Gabrg1 |
A |
T |
5: 70,935,474 (GRCm39) |
Y227N |
possibly damaging |
Het |
| Gins3 |
A |
G |
8: 96,369,903 (GRCm39) |
I197V |
probably benign |
Het |
| Gm17079 |
T |
C |
14: 51,930,420 (GRCm39) |
T142A |
possibly damaging |
Het |
| Gna15 |
T |
C |
10: 81,338,879 (GRCm39) |
Y320C |
probably damaging |
Het |
| H2-T5 |
C |
A |
17: 36,479,001 (GRCm39) |
D83Y |
probably damaging |
Het |
| Hibch |
G |
A |
1: 52,959,539 (GRCm39) |
|
probably benign |
Het |
| Kif5b |
G |
A |
18: 6,222,767 (GRCm39) |
R355W |
probably damaging |
Het |
| Klf1 |
T |
C |
8: 85,629,561 (GRCm39) |
S129P |
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Nat8f5 |
A |
G |
6: 85,794,640 (GRCm39) |
S107P |
probably damaging |
Het |
| Or2t49 |
A |
G |
11: 58,392,581 (GRCm39) |
L267P |
possibly damaging |
Het |
| Or8g24 |
T |
A |
9: 38,989,258 (GRCm39) |
Q261L |
probably damaging |
Het |
| Or8g24 |
C |
A |
9: 38,989,257 (GRCm39) |
Q261H |
probably benign |
Het |
| Pcdhb18 |
G |
A |
18: 37,622,674 (GRCm39) |
M1I |
probably null |
Het |
| Plcb3 |
A |
G |
19: 6,932,420 (GRCm39) |
F1080L |
probably benign |
Het |
| Polr2g |
T |
C |
19: 8,775,669 (GRCm39) |
H14R |
probably damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,266,889 (GRCm39) |
D825G |
probably benign |
Het |
| Scn3a |
G |
A |
2: 65,367,016 (GRCm39) |
A2V |
probably damaging |
Het |
| Slc25a54 |
T |
C |
3: 108,993,046 (GRCm39) |
|
probably benign |
Het |
| Smad9 |
C |
A |
3: 54,696,636 (GRCm39) |
Q234K |
probably benign |
Het |
| Tie1 |
T |
C |
4: 118,330,025 (GRCm39) |
Y1066C |
probably damaging |
Het |
| Traf1 |
T |
C |
2: 34,838,484 (GRCm39) |
E118G |
probably benign |
Het |
| Ttc21b |
T |
C |
2: 66,068,192 (GRCm39) |
D278G |
possibly damaging |
Het |
| Uaca |
C |
A |
9: 60,761,600 (GRCm39) |
T204K |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,401,096 (GRCm39) |
Y154N |
probably benign |
Het |
| Virma |
A |
G |
4: 11,518,984 (GRCm39) |
T694A |
probably benign |
Het |
| Vmn2r50 |
T |
C |
7: 9,779,929 (GRCm39) |
D500G |
probably damaging |
Het |
| Vmn2r59 |
T |
A |
7: 41,693,253 (GRCm39) |
H449L |
probably benign |
Het |
|
| Other mutations in Fzr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00809:Fzr1
|
APN |
10 |
81,206,359 (GRCm39) |
nonsense |
probably null |
|
|
IGL02541:Fzr1
|
APN |
10 |
81,205,867 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03327:Fzr1
|
APN |
10 |
81,205,018 (GRCm39) |
missense |
probably benign |
0.05 |
|
PIT4445001:Fzr1
|
UTSW |
10 |
81,205,228 (GRCm39) |
nonsense |
probably null |
|
|
R0179:Fzr1
|
UTSW |
10 |
81,204,904 (GRCm39) |
splice site |
probably benign |
|
|
R0403:Fzr1
|
UTSW |
10 |
81,205,202 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1591:Fzr1
|
UTSW |
10 |
81,206,201 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1987:Fzr1
|
UTSW |
10 |
81,206,153 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2358:Fzr1
|
UTSW |
10 |
81,203,474 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2844:Fzr1
|
UTSW |
10 |
81,205,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4657:Fzr1
|
UTSW |
10 |
81,203,386 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5054:Fzr1
|
UTSW |
10 |
81,207,253 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5108:Fzr1
|
UTSW |
10 |
81,205,284 (GRCm39) |
splice site |
probably benign |
|
|
R5201:Fzr1
|
UTSW |
10 |
81,203,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5494:Fzr1
|
UTSW |
10 |
81,207,178 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5663:Fzr1
|
UTSW |
10 |
81,206,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5733:Fzr1
|
UTSW |
10 |
81,206,160 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5997:Fzr1
|
UTSW |
10 |
81,206,660 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6777:Fzr1
|
UTSW |
10 |
81,206,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7055:Fzr1
|
UTSW |
10 |
81,206,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7078:Fzr1
|
UTSW |
10 |
81,204,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7883:Fzr1
|
UTSW |
10 |
81,204,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8374:Fzr1
|
UTSW |
10 |
81,203,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8428:Fzr1
|
UTSW |
10 |
81,206,942 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9149:Fzr1
|
UTSW |
10 |
81,205,249 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Posted On |
2016-08-02 |
Incidental Mutation