Incidental Mutation 'IGL00693:Pno1'
ID13077
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pno1
Ensembl Gene ENSMUSG00000020116
Gene Namepartner of NOB1 homolog
SynonymsImi3, 1810003N24Rik, expressed during mesenchymal induction 3, Emi3
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00693
Quality Score
Status
Chromosome11
Chromosomal Location17203198-17211568 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 17211317 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 64 (L64P)
Ref Sequence ENSEMBL: ENSMUSP00000020317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020317] [ENSMUST00000046955]
Predicted Effect probably benign
Transcript: ENSMUST00000020317
AA Change: L64P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000020317
Gene: ENSMUSG00000020116
AA Change: L64P

DomainStartEndE-ValueType
KH 153 226 8.92e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000046955
SMART Domains Protein: ENSMUSP00000040938
Gene: ENSMUSG00000078970

DomainStartEndE-ValueType
WD40 55 96 6.88e0 SMART
WD40 100 145 5.15e-2 SMART
Blast:WD40 149 196 8e-27 BLAST
WD40 199 240 2.54e2 SMART
WD40 246 288 2.06e0 SMART
WD40 310 350 7.7e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151431
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit eombryonic lethality between E3.5 and E6.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 37,052,547 probably benign Het
Aldh1a7 G A 19: 20,700,046 P404S probably damaging Het
Armc4 C T 18: 7,211,504 G790D probably damaging Het
Ccng1 A G 11: 40,754,058 V4A probably benign Het
Col4a3 T C 1: 82,697,754 Y1176H unknown Het
Dyrk3 T C 1: 131,136,337 I3V possibly damaging Het
Gm13101 G T 4: 143,965,822 P203Q possibly damaging Het
Gpsm3 A G 17: 34,591,273 E149G probably damaging Het
Hsd3b6 A C 3: 98,806,278 L235R probably damaging Het
Ipo11 A T 13: 106,897,260 F238Y probably damaging Het
Kcnh7 C T 2: 62,734,254 R887K probably benign Het
Lrrc8a T C 2: 30,255,315 V47A probably benign Het
Lsm14b A G 2: 180,032,626 N241D probably damaging Het
Mtss1 T A 15: 58,944,124 D529V probably damaging Het
Nupl1 A T 14: 60,238,520 S283T probably benign Het
Proc A G 18: 32,123,513 V367A probably benign Het
Sez6l A T 5: 112,422,013 I964N probably damaging Het
Speer2 A T 16: 69,860,518 M79K probably benign Het
Tef T C 15: 81,815,183 S131P probably benign Het
Ubr2 T C 17: 46,972,981 T581A probably benign Het
Unc13c A T 9: 73,758,602 D1045E probably benign Het
Vsig8 T C 1: 172,561,589 V136A probably damaging Het
Wee1 A T 7: 110,134,853 probably null Het
Other mutations in Pno1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01475:Pno1 APN 11 17210992 missense probably damaging 1.00
IGL03166:Pno1 APN 11 17204513 unclassified probably null
R0184:Pno1 UTSW 11 17211127 missense probably benign 0.00
R1302:Pno1 UTSW 11 17204545 missense probably benign 0.42
R1978:Pno1 UTSW 11 17204519 missense possibly damaging 0.57
R4345:Pno1 UTSW 11 17209095 missense possibly damaging 0.73
R4586:Pno1 UTSW 11 17211438 missense probably benign 0.00
R7027:Pno1 UTSW 11 17208880 missense possibly damaging 0.63
R7890:Pno1 UTSW 11 17211443 missense probably benign 0.00
R7973:Pno1 UTSW 11 17211443 missense probably benign 0.00
Posted On2012-12-06