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) question?
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

DomainStartEndE-ValueType
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

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
AA Change: T211A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000112868
Gene: ENSMUSG00000020235
AA Change: T211A

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: ENSMUST00000124512
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130762
Predicted Effect probably benign
Transcript: ENSMUST00000131736
SMART Domains Protein: ENSMUSP00000123068
Gene: ENSMUSG00000020234

DomainStartEndE-ValueType
Pfam:DUF4531 1 128 2.6e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138343
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

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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