Incidental Mutation 'IGL03166:Pno1'
ID 411643
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pno1
Ensembl Gene ENSMUSG00000020116
Gene Name partner of NOB1 homolog
Synonyms Imi3, Emi3, 1810003N24Rik, expressed during mesenchymal induction 3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03166
Quality Score
Status
Chromosome 11
Chromosomal Location 17153198-17161568 bp(-) (GRCm39)
Type of Mutation splice site (4138 bp from exon)
DNA Base Change (assembly) T to A at 17154513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020317] [ENSMUST00000102880]
AlphaFold Q9CPS7
Predicted Effect possibly damaging
Transcript: ENSMUST00000020317
AA Change: N223Y

PolyPhen 2 Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000020317
Gene: ENSMUSG00000020116
AA Change: N223Y

DomainStartEndE-ValueType
KH 153 226 8.92e-5 SMART
Predicted Effect probably null
Transcript: ENSMUST00000102880
SMART Domains Protein: ENSMUSP00000099944
Gene: ENSMUSG00000033953

DomainStartEndE-ValueType
EFh 22 50 2.95e0 SMART
EFh 54 82 1.14e-5 SMART
EFh 91 119 2.96e-4 SMART
EFh 132 160 3.01e-5 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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Ankfn1 G T 11: 89,429,264 (GRCm39) A40D probably benign Het
Arhgap20 T A 9: 51,761,077 (GRCm39) I940K possibly damaging Het
Arhgap24 T C 5: 103,023,552 (GRCm39) probably benign Het
Bdp1 T C 13: 100,172,308 (GRCm39) T2103A probably benign Het
Cep350 A G 1: 155,739,346 (GRCm39) S2166P possibly damaging Het
Dlg2 T C 7: 91,549,938 (GRCm39) probably benign Het
Fhip2b A T 14: 70,827,616 (GRCm39) C160S probably damaging Het
Fyco1 A T 9: 123,657,452 (GRCm39) L908H probably benign Het
Gprc5b C A 7: 118,583,222 (GRCm39) A216S probably benign Het
Lamc1 A G 1: 153,208,047 (GRCm39) V80A probably benign Het
Lilra6 T C 7: 3,915,626 (GRCm39) I370V possibly damaging Het
Lim2 T A 7: 43,080,047 (GRCm39) C11* probably null Het
Lrp1b T A 2: 41,001,050 (GRCm39) H2058L probably damaging Het
Lrp3 G T 7: 34,901,905 (GRCm39) L659I probably benign Het
Lrrc8a T G 2: 30,145,377 (GRCm39) S64A probably benign Het
Lsr C T 7: 30,661,522 (GRCm39) probably null Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Man2c1 T A 9: 57,046,382 (GRCm39) V479E probably damaging Het
Mtf2 T A 5: 108,254,586 (GRCm39) D462E probably benign Het
Mx2 T C 16: 97,347,990 (GRCm39) I205T probably damaging Het
Nos1 T A 5: 118,052,517 (GRCm39) probably benign Het
Optc C T 1: 133,831,530 (GRCm39) probably benign Het
Or51e2 T C 7: 102,391,254 (GRCm39) N319D probably benign Het
Orm1 C A 4: 63,262,831 (GRCm39) probably benign Het
Pdzd8 T C 19: 59,288,940 (GRCm39) E820G probably damaging Het
Pkp1 A T 1: 135,805,862 (GRCm39) M612K probably damaging Het
Rbm34 T C 8: 127,697,606 (GRCm39) Q35R probably damaging Het
Ryr3 A T 2: 112,471,457 (GRCm39) Y4564* probably null Het
Slc34a3 T C 2: 25,122,186 (GRCm39) I140V probably damaging Het
Slc43a1 T C 2: 84,687,700 (GRCm39) I419T possibly damaging Het
Sltm C A 9: 70,450,251 (GRCm39) A17E possibly damaging Het
Smpdl3b T C 4: 132,468,842 (GRCm39) D125G probably benign Het
Snorc A C 1: 87,402,933 (GRCm39) probably benign Het
Supt3 G T 17: 45,234,106 (GRCm39) A48S probably damaging Het
Tlr3 A G 8: 45,855,965 (GRCm39) F72L probably benign Het
Trim36 T C 18: 46,345,388 (GRCm39) E15G probably benign Het
Tubb4b-ps1 A T 5: 7,229,965 (GRCm39) probably benign Het
Vmn2r68 T C 7: 84,871,331 (GRCm39) T651A probably benign Het
Wdr76 G T 2: 121,364,787 (GRCm39) V462F possibly damaging Het
Wnk2 C A 13: 49,224,520 (GRCm39) G1112* probably null Het
Zfp868 A C 8: 70,064,965 (GRCm39) C123W probably damaging Het
Zyg11b T A 4: 108,123,086 (GRCm39) M294L probably benign Het
Other mutations in Pno1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00693:Pno1 APN 11 17,161,317 (GRCm39) missense probably benign 0.00
IGL01475:Pno1 APN 11 17,160,992 (GRCm39) missense probably damaging 1.00
R0184:Pno1 UTSW 11 17,161,127 (GRCm39) missense probably benign 0.00
R1302:Pno1 UTSW 11 17,154,545 (GRCm39) missense probably benign 0.42
R1978:Pno1 UTSW 11 17,154,519 (GRCm39) missense possibly damaging 0.57
R4345:Pno1 UTSW 11 17,159,095 (GRCm39) missense possibly damaging 0.73
R4586:Pno1 UTSW 11 17,161,438 (GRCm39) missense probably benign 0.00
R7027:Pno1 UTSW 11 17,158,880 (GRCm39) missense possibly damaging 0.63
R7890:Pno1 UTSW 11 17,161,443 (GRCm39) missense probably benign 0.00
R9376:Pno1 UTSW 11 17,158,791 (GRCm39) missense probably benign 0.08
Posted On 2016-08-02