Incidental Mutation 'R4984:Pifo'
ID512183
Institutional Source Beutler Lab
Gene Symbol Pifo
Ensembl Gene ENSMUSG00000010136
Gene Nameprimary cilia formation
Synonymspitchfork, 1700027A23Rik
MMRRC Submission 042578-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.136) question?
Stock #R4984 (G1)
Quality Score221
Status Not validated
Chromosome3
Chromosomal Location105996957-106014646 bp(-) (GRCm38)
Type of Mutationstart gained
DNA Base Change (assembly) T to A at 106001494 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000069454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010280] [ENSMUST00000066319]
Predicted Effect probably benign
Transcript: ENSMUST00000010280
SMART Domains Protein: ENSMUSP00000010280
Gene: ENSMUSG00000010136

DomainStartEndE-ValueType
Pfam:SHIPPO-rpt 183 209 5.2e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066319
SMART Domains Protein: ENSMUSP00000069454
Gene: ENSMUSG00000010136

DomainStartEndE-ValueType
Pfam:SHIPPO-rpt 58 96 1.9e-2 PFAM
Pfam:SHIPPO-rpt 144 184 1.9e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198855
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.4%
Validation Efficiency 98% (41/42)
MGI Phenotype PHENOTYPE: Heterozygous null embryos generated by tetraploid complementation display embryonic lethality with double outlet heart right ventricle, duplicated cilia and defects in cilia disassembly. A conditional allele activated in limb bub cultures doesn't interfere with cilia development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra2a T C 19: 54,046,639 I142T probably damaging Het
B020004J07Rik G C 4: 101,835,599 N401K possibly damaging Het
Cd109 T C 9: 78,634,677 probably null Het
Cdc42bpg T A 19: 6,316,223 I812N possibly damaging Het
Cftr A G 6: 18,235,199 E479G possibly damaging Het
Cpb1 GTTT GTT 3: 20,270,352 probably null Het
Crocc T C 4: 141,034,452 E873G probably damaging Het
Dnah3 C T 7: 119,928,779 V3827I probably benign Het
Dync1h1 C A 12: 110,658,126 T3700N probably damaging Het
E230001N04Rik T C 17: 28,523,806 noncoding transcript Het
Gpr89 T A 3: 96,905,196 M10L probably benign Het
Kbtbd7 T C 14: 79,427,162 Y145H probably damaging Het
Kcnh8 T A 17: 52,877,967 Y426N probably damaging Het
Mipep A G 14: 60,788,182 D129G possibly damaging Het
Muc15 C T 2: 110,731,573 P118L probably damaging Het
Mug1 T C 6: 121,838,617 probably benign Het
Nubp1 T A 16: 10,421,244 D208E probably damaging Het
Olfr1192-ps1 A G 2: 88,412,577 L27P probably damaging Het
Olfr1256 A T 2: 89,835,813 V44D probably damaging Het
Olfr1286 A T 2: 111,420,847 Y35N probably damaging Het
Olfr229 A G 9: 39,910,610 D269G probably benign Het
Olfr651 T G 7: 104,553,021 I34S probably benign Het
Pdcd5 A C 7: 35,642,685 V166G probably damaging Het
Pde4d T C 13: 109,740,464 L173P probably damaging Het
Phldb2 T C 16: 45,825,633 Y195C probably damaging Het
Pou4f1 T C 14: 104,466,183 E271G unknown Het
Ppl T C 16: 5,087,641 I1597V probably benign Het
Sorl1 C A 9: 41,991,342 D1640Y probably damaging Het
Taf4b T C 18: 14,835,816 L670P probably damaging Het
Tox3 TCTGCTGCTGCTGCTGCTG TCTGCTGCTGCTGCTG 8: 90,248,642 probably benign Het
Ttc39b A T 4: 83,242,209 I377K probably benign Het
Ttll3 A G 6: 113,412,940 D762G probably benign Het
Ubp1 T A 9: 113,959,392 I279K probably damaging Het
Vmn2r93 T A 17: 18,313,127 probably null Het
Wdfy3 C T 5: 101,943,119 D532N probably benign Het
Zfp644 A T 5: 106,636,917 L588Q possibly damaging Het
Other mutations in Pifo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Pifo APN 3 106014508 missense probably benign 0.29
IGL01615:Pifo APN 3 105997207 splice site probably null
IGL02451:Pifo APN 3 106014504 missense probably benign 0.09
R0139:Pifo UTSW 3 105999570 missense possibly damaging 0.46
R1802:Pifo UTSW 3 106014550 missense possibly damaging 0.77
R1832:Pifo UTSW 3 106014596 missense possibly damaging 0.53
R4404:Pifo UTSW 3 106001368 missense probably benign 0.25
R4681:Pifo UTSW 3 105998385 missense probably damaging 1.00
R5245:Pifo UTSW 3 106014454 missense possibly damaging 0.92
R5308:Pifo UTSW 3 106001103 missense probably benign 0.02
R6015:Pifo UTSW 3 105999621 missense possibly damaging 0.47
Predicted Primers
Posted On2018-04-10