Incidental Mutation 'IGL00809:Fzr1'
ID10860
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fzr1
Ensembl Gene ENSMUSG00000020235
Gene Namefizzy and cell division cycle 20 related 1
SynonymsCdh1, Fyr
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00809
Quality Score
Status
Chromosome10
Chromosomal Location81366222-81378516 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 81370525 bp
ZygosityHeterozygous
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]
Predicted Effect probably benign
Transcript: ENSMUST00000020456
SMART Domains Protein: ENSMUSP00000020456
Gene: ENSMUSG00000020234

DomainStartEndE-ValueType
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*

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000138343
Predicted Effect probably null
Transcript: ENSMUST00000140901
AA Change: S137*
SMART Domains Protein: ENSMUSP00000114203
Gene: ENSMUSG00000020235
AA Change: S137*

DomainStartEndE-ValueType
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: 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,235,786 T113A possibly damaging Het
Akap10 T A 11: 61,915,071 N277I possibly damaging Het
Ankrd24 A T 10: 81,643,067 probably benign Het
Bfsp2 T C 9: 103,453,098 E180G possibly damaging Het
Cd55 A T 1: 130,452,511 Y243* probably null Het
Col17a1 G T 19: 47,681,403 H103Q probably damaging Het
Diaph3 A T 14: 87,000,027 H311Q probably damaging Het
Dnah1 G A 14: 31,300,809 Q1124* probably null Het
Faim G A 9: 98,992,165 G15R probably damaging Het
Gnl3 A G 14: 31,014,189 I298T possibly damaging Het
Hnrnpa2b1 C T 6: 51,467,013 G65S probably damaging Het
Hsd17b7 A T 1: 169,965,755 Y88* probably null Het
Itga2 C A 13: 114,877,625 A256S probably damaging Het
Itga7 T C 10: 128,939,169 probably null Het
Ivl T A 3: 92,572,512 Q82L possibly damaging Het
Lin28a C T 4: 134,008,056 G90S probably damaging Het
Lkaaear1 A T 2: 181,697,334 S108T probably benign Het
Mfsd11 T A 11: 116,859,351 S105T probably damaging Het
Mpp6 C T 6: 50,196,589 R478C probably benign Het
Osbpl9 C T 4: 109,133,763 R100H probably damaging Het
Pclo T A 5: 14,675,797 D1556E unknown Het
Phip G A 9: 82,871,303 S1796F probably damaging Het
Phtf1 T C 3: 103,988,667 S226P probably benign Het
Rapgef6 C A 11: 54,649,300 Q734K probably damaging Het
Scn9a A T 2: 66,483,935 I1802N probably damaging Het
Slit2 G A 5: 47,989,151 E95K possibly damaging Het
Stab2 A T 10: 86,848,174 probably benign Het
Trpc7 T C 13: 56,822,488 I373V probably benign Het
Ttbk2 T A 2: 120,760,269 D303V probably damaging Het
Ylpm1 T C 12: 85,049,194 I1163T probably damaging Het
Other mutations in Fzr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02541:Fzr1 APN 10 81370033 missense probably damaging 0.98
IGL03327:Fzr1 APN 10 81369184 missense probably benign 0.05
IGL03346:Fzr1 APN 10 81369184 missense probably benign 0.05
PIT4445001:Fzr1 UTSW 10 81369394 nonsense probably null
R0179:Fzr1 UTSW 10 81369070 splice site probably benign
R0403:Fzr1 UTSW 10 81369368 missense possibly damaging 0.95
R1591:Fzr1 UTSW 10 81370367 missense possibly damaging 0.75
R1987:Fzr1 UTSW 10 81370319 missense probably damaging 0.98
R2358:Fzr1 UTSW 10 81367640 critical splice donor site probably null
R2844:Fzr1 UTSW 10 81369418 missense probably damaging 1.00
R4657:Fzr1 UTSW 10 81367552 critical splice acceptor site probably null
R5054:Fzr1 UTSW 10 81371419 utr 5 prime probably benign
R5108:Fzr1 UTSW 10 81369450 splice site probably benign
R5201:Fzr1 UTSW 10 81367528 missense probably damaging 1.00
R5494:Fzr1 UTSW 10 81371344 critical splice donor site probably null
R5663:Fzr1 UTSW 10 81370526 missense probably benign 0.00
R5733:Fzr1 UTSW 10 81370326 missense possibly damaging 0.95
R5997:Fzr1 UTSW 10 81370826 critical splice acceptor site probably null
R6777:Fzr1 UTSW 10 81370493 missense probably damaging 1.00
R7055:Fzr1 UTSW 10 81370223 missense probably damaging 1.00
R7078:Fzr1 UTSW 10 81368629 missense probably damaging 1.00
R7883:Fzr1 UTSW 10 81368635 missense probably damaging 1.00
R7966:Fzr1 UTSW 10 81368635 missense probably damaging 1.00
Posted On2012-12-06