Incidental Mutation 'IGL00809:Fzr1'
ID |
10860 |
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 # |
IGL00809
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
81202713-81214204 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 81206359 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 137
(S137*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114203
(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 null
Transcript: ENSMUST00000020457
AA Change: S137*
|
SMART Domains |
Protein: ENSMUSP00000020457 Gene: ENSMUSG00000020235 AA Change: S137*
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
|
SMART Domains |
Protein: ENSMUSP00000112868 Gene: ENSMUSG00000020235
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: ENSMUST00000127203
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130762
|
Predicted Effect |
probably null
Transcript: ENSMUST00000140901
AA Change: S137*
|
SMART Domains |
Protein: ENSMUSP00000114203 Gene: ENSMUSG00000020235 AA Change: S137*
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
T |
C |
4: 103,092,983 (GRCm39) |
T113A |
possibly damaging |
Het |
Akap10 |
T |
A |
11: 61,805,897 (GRCm39) |
N277I |
possibly damaging |
Het |
Ankrd24 |
A |
T |
10: 81,478,901 (GRCm39) |
|
probably benign |
Het |
Bfsp2 |
T |
C |
9: 103,330,297 (GRCm39) |
E180G |
possibly damaging |
Het |
Cd55 |
A |
T |
1: 130,380,248 (GRCm39) |
Y243* |
probably null |
Het |
Col17a1 |
G |
T |
19: 47,669,842 (GRCm39) |
H103Q |
probably damaging |
Het |
Diaph3 |
A |
T |
14: 87,237,463 (GRCm39) |
H311Q |
probably damaging |
Het |
Dnah1 |
G |
A |
14: 31,022,766 (GRCm39) |
Q1124* |
probably null |
Het |
Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
Gnl3 |
A |
G |
14: 30,736,146 (GRCm39) |
I298T |
possibly damaging |
Het |
Hnrnpa2b1 |
C |
T |
6: 51,443,993 (GRCm39) |
G65S |
probably damaging |
Het |
Hsd17b7 |
A |
T |
1: 169,793,324 (GRCm39) |
Y88* |
probably null |
Het |
Itga2 |
C |
A |
13: 115,014,161 (GRCm39) |
A256S |
probably damaging |
Het |
Itga7 |
T |
C |
10: 128,775,038 (GRCm39) |
|
probably null |
Het |
Ivl |
T |
A |
3: 92,479,819 (GRCm39) |
Q82L |
possibly damaging |
Het |
Lin28a |
C |
T |
4: 133,735,367 (GRCm39) |
G90S |
probably damaging |
Het |
Lkaaear1 |
A |
T |
2: 181,339,127 (GRCm39) |
S108T |
probably benign |
Het |
Mfsd11 |
T |
A |
11: 116,750,177 (GRCm39) |
S105T |
probably damaging |
Het |
Osbpl9 |
C |
T |
4: 108,990,960 (GRCm39) |
R100H |
probably damaging |
Het |
Pals2 |
C |
T |
6: 50,173,569 (GRCm39) |
R478C |
probably benign |
Het |
Pclo |
T |
A |
5: 14,725,811 (GRCm39) |
D1556E |
unknown |
Het |
Phip |
G |
A |
9: 82,753,356 (GRCm39) |
S1796F |
probably damaging |
Het |
Phtf1 |
T |
C |
3: 103,895,983 (GRCm39) |
S226P |
probably benign |
Het |
Rapgef6 |
C |
A |
11: 54,540,126 (GRCm39) |
Q734K |
probably damaging |
Het |
Scn9a |
A |
T |
2: 66,314,279 (GRCm39) |
I1802N |
probably damaging |
Het |
Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
Stab2 |
A |
T |
10: 86,684,038 (GRCm39) |
|
probably benign |
Het |
Trpc7 |
T |
C |
13: 56,970,301 (GRCm39) |
I373V |
probably benign |
Het |
Ttbk2 |
T |
A |
2: 120,590,750 (GRCm39) |
D303V |
probably damaging |
Het |
Ylpm1 |
T |
C |
12: 85,095,968 (GRCm39) |
I1163T |
probably damaging |
Het |
|
Other mutations in Fzr1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL03346: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 |
2012-12-06 |