Incidental Mutation 'IGL01615:Pifo'
ID92378
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pifo
Ensembl Gene ENSMUSG00000010136
Gene Nameprimary cilia formation
Synonymspitchfork, 1700027A23Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.136) question?
Stock #IGL01615
Quality Score
Status
Chromosome3
Chromosomal Location105996957-106014646 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to T at 105997207 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000069454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010280] [ENSMUST00000066319]
Predicted Effect probably null
Transcript: ENSMUST00000010280
SMART Domains Protein: ENSMUSP00000010280
Gene: ENSMUSG00000010136

DomainStartEndE-ValueType
Pfam:SHIPPO-rpt 183 209 5.2e-6 PFAM
Predicted Effect probably null
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
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp2 T C 18: 80,128,477 T906A probably damaging Het
Akap13 A G 7: 75,697,393 S1731G probably damaging Het
Apbb2 A G 5: 66,307,701 V650A probably benign Het
Appl1 A G 14: 26,959,470 probably benign Het
Avpr1b T G 1: 131,600,147 V136G probably damaging Het
B020004J07Rik T A 4: 101,837,004 R227S possibly damaging Het
C6 T C 15: 4,781,896 F409L probably benign Het
Cdk20 A G 13: 64,436,310 probably benign Het
Cenpf T C 1: 189,653,184 K2300E possibly damaging Het
Cfap57 C T 4: 118,600,796 R399Q probably damaging Het
Cnnm1 A T 19: 43,471,936 S706C probably benign Het
Cr1l T C 1: 195,129,881 I45V possibly damaging Het
D130043K22Rik A T 13: 24,899,796 R1081S probably damaging Het
Ddx60 A T 8: 61,963,740 H573L probably null Het
Eif5b T C 1: 38,045,706 L878S probably damaging Het
Ets1 T C 9: 32,732,939 probably benign Het
Evi5 A G 5: 107,764,707 L696P probably damaging Het
Fbxo18 C A 2: 11,757,523 E12* probably null Het
Gabpb1 C A 2: 126,653,600 M77I possibly damaging Het
Glul T A 1: 153,906,476 N152K probably benign Het
Gm45234 T C 6: 124,746,431 Y613C probably damaging Het
Gm5611 A G 9: 17,030,351 noncoding transcript Het
Gm6583 A G 5: 112,355,830 S3P possibly damaging Het
Gpr156 T A 16: 37,988,591 I225K probably damaging Het
Herc4 T C 10: 63,290,682 probably benign Het
Iqsec3 C T 6: 121,410,621 V720M probably damaging Het
Itgam A T 7: 128,116,767 H1104L possibly damaging Het
Itgb3 T A 11: 104,643,965 D549E probably damaging Het
Kctd7 A T 5: 130,148,135 M76L probably damaging Het
Kdm3b T G 18: 34,829,231 N1523K probably damaging Het
Map3k12 T A 15: 102,503,751 E318D probably damaging Het
Mc1r T C 8: 123,408,050 Y181H probably damaging Het
Mex3c G A 18: 73,573,632 A197T unknown Het
Mvk A G 5: 114,446,292 D71G probably benign Het
Ndufb3 T A 1: 58,595,753 L88* probably null Het
Olfr476 A G 7: 107,967,937 D180G probably damaging Het
Olfr684 A G 7: 105,157,460 V74A probably benign Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Slc5a3 C T 16: 92,079,112 Q686* probably null Het
Vmn2r75 T C 7: 86,148,473 I711V probably benign Het
Vps13c T A 9: 67,955,781 H3026Q probably benign Het
Zfp354c A G 11: 50,817,905 S22P possibly damaging Het
Other mutations in Pifo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Pifo APN 3 106014508 missense probably benign 0.29
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
R4984:Pifo UTSW 3 106001494 start gained probably benign
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
Posted On2013-12-09