Incidental Mutation 'R2358:Fzr1'
ID |
247024 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fzr1
|
Ensembl Gene |
ENSMUSG00000020235 |
Gene Name |
fizzy and cell division cycle 20 related 1 |
Synonyms |
Fyr, Cdh1 |
MMRRC Submission |
040340-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2358 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
81202713-81214204 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 81203474 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114203
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020456]
[ENSMUST00000020457]
[ENSMUST00000044844]
[ENSMUST00000118812]
[ENSMUST00000118812]
[ENSMUST00000140901]
[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
|
SMART Domains |
Protein: ENSMUSP00000020457 Gene: ENSMUSG00000020235
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 null
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 |
probably null
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: 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 null
Transcript: ENSMUST00000140901
|
SMART Domains |
Protein: ENSMUSP00000114203 Gene: ENSMUSG00000020235
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 |
probably null
Transcript: ENSMUST00000140901
|
SMART Domains |
Protein: ENSMUSP00000114203 Gene: ENSMUSG00000020235
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
98% (55/56) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
CGG |
CG |
5: 124,215,368 (GRCm39) |
|
probably null |
Het |
Aif1l |
T |
A |
2: 31,859,763 (GRCm39) |
F94L |
probably damaging |
Het |
Ankzf1 |
C |
T |
1: 75,171,895 (GRCm39) |
H209Y |
probably damaging |
Het |
Ate1 |
A |
T |
7: 130,117,895 (GRCm39) |
M30K |
probably damaging |
Het |
Cd27 |
A |
G |
6: 125,210,281 (GRCm39) |
Y189H |
probably damaging |
Het |
Cela1 |
A |
G |
15: 100,579,109 (GRCm39) |
I183T |
probably benign |
Het |
Copg2 |
A |
T |
6: 30,803,168 (GRCm39) |
L259* |
probably null |
Het |
Dennd2b |
A |
T |
7: 109,155,653 (GRCm39) |
S366T |
probably benign |
Het |
Efcab7 |
T |
A |
4: 99,719,823 (GRCm39) |
|
probably benign |
Het |
Fcrl5 |
A |
G |
3: 87,353,726 (GRCm39) |
E357G |
probably damaging |
Het |
Il12rb2 |
C |
T |
6: 67,275,179 (GRCm39) |
A649T |
probably damaging |
Het |
Itfg1 |
C |
A |
8: 86,464,758 (GRCm39) |
V438F |
probably damaging |
Het |
Jaml |
A |
C |
9: 45,012,361 (GRCm39) |
I283L |
possibly damaging |
Het |
Kif28 |
A |
T |
1: 179,537,024 (GRCm39) |
H486Q |
probably damaging |
Het |
Lrch4 |
A |
G |
5: 137,636,810 (GRCm39) |
|
probably benign |
Het |
Lrfn2 |
A |
G |
17: 49,378,188 (GRCm39) |
E423G |
possibly damaging |
Het |
Lrp4 |
T |
A |
2: 91,332,299 (GRCm39) |
N1665K |
probably benign |
Het |
Mrpl32 |
A |
T |
13: 14,785,165 (GRCm39) |
V157E |
probably damaging |
Het |
Mta3 |
A |
G |
17: 84,070,417 (GRCm39) |
I193V |
probably damaging |
Het |
Myom2 |
G |
A |
8: 15,162,018 (GRCm39) |
V984I |
possibly damaging |
Het |
Nedd4l |
G |
A |
18: 65,342,790 (GRCm39) |
V909I |
possibly damaging |
Het |
Nlrp4a |
A |
G |
7: 26,163,623 (GRCm39) |
D930G |
probably benign |
Het |
Or10al5 |
T |
A |
17: 38,063,271 (GRCm39) |
C175* |
probably null |
Het |
Or5d47 |
A |
T |
2: 87,804,066 (GRCm39) |
N314K |
probably benign |
Het |
Or7a35 |
T |
C |
10: 78,854,022 (GRCm39) |
F289L |
probably damaging |
Het |
Ovch2 |
A |
T |
7: 107,394,122 (GRCm39) |
H110Q |
probably damaging |
Het |
Pcnx3 |
G |
A |
19: 5,733,367 (GRCm39) |
Q155* |
probably null |
Het |
Pcnx3 |
C |
G |
19: 5,733,368 (GRCm39) |
L1F |
probably null |
Het |
Pi4k2a |
G |
A |
19: 42,079,131 (GRCm39) |
R64Q |
probably damaging |
Het |
Ptpn12 |
G |
A |
5: 21,203,690 (GRCm39) |
P363S |
probably damaging |
Het |
Rbm27 |
T |
C |
18: 42,425,177 (GRCm39) |
|
probably benign |
Het |
Ripor3 |
A |
G |
2: 167,825,785 (GRCm39) |
|
probably benign |
Het |
Rpl13-ps3 |
A |
G |
14: 59,131,265 (GRCm39) |
|
noncoding transcript |
Het |
Sap18b |
G |
A |
8: 96,552,191 (GRCm39) |
R67H |
probably benign |
Het |
Sdhb |
T |
C |
4: 140,700,311 (GRCm39) |
V137A |
probably damaging |
Het |
Shmt2 |
T |
C |
10: 127,353,897 (GRCm39) |
T459A |
probably benign |
Het |
Siglecg |
A |
G |
7: 43,058,846 (GRCm39) |
S200G |
possibly damaging |
Het |
Slc6a15 |
T |
G |
10: 103,252,646 (GRCm39) |
I603S |
probably benign |
Het |
Smtn |
A |
T |
11: 3,482,865 (GRCm39) |
|
probably null |
Het |
Spata31d1a |
G |
A |
13: 59,851,702 (GRCm39) |
S142L |
probably benign |
Het |
Spopfm2 |
G |
A |
3: 94,082,854 (GRCm39) |
A319V |
possibly damaging |
Het |
Spopfm2 |
C |
A |
3: 94,082,855 (GRCm39) |
A319S |
possibly damaging |
Het |
Spopl |
C |
T |
2: 23,427,392 (GRCm39) |
R221Q |
probably damaging |
Het |
Strip1 |
A |
G |
3: 107,523,135 (GRCm39) |
V633A |
probably benign |
Het |
Sun2 |
A |
G |
15: 79,612,114 (GRCm39) |
S522P |
possibly damaging |
Het |
Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
Terb2 |
T |
A |
2: 122,028,913 (GRCm39) |
C157S |
probably benign |
Het |
Themis |
T |
A |
10: 28,739,376 (GRCm39) |
N615K |
possibly damaging |
Het |
Tlnrd1 |
A |
T |
7: 83,531,488 (GRCm39) |
D314E |
probably benign |
Het |
Vmn1r205 |
T |
A |
13: 22,776,566 (GRCm39) |
T179S |
probably benign |
Het |
Vsig10l |
G |
A |
7: 43,118,185 (GRCm39) |
R689H |
probably benign |
Het |
Wt1 |
G |
A |
2: 104,993,773 (GRCm39) |
|
probably benign |
Het |
Zfp423 |
G |
T |
8: 88,507,179 (GRCm39) |
A1034D |
possibly damaging |
Het |
Zfy2 |
T |
C |
Y: 2,107,272 (GRCm39) |
E454G |
possibly damaging |
Het |
Zyg11a |
G |
T |
4: 108,053,343 (GRCm39) |
Q440K |
possibly damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCATTTAATGAGACTCTGGGG -3'
(R):5'- TAGCCCAGAATCCATGTCCC -3'
Sequencing Primer
(F):5'- AGCAAGGCCTATGCATGC -3'
(R):5'- AGAATCCATGTCCCCTGGC -3'
|
Posted On |
2014-10-30 |