Incidental Mutation 'IGL03198:Podnl1'
ID 412902
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Podnl1
Ensembl Gene ENSMUSG00000012889
Gene Name podocan-like 1
Synonyms 5832418A03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # IGL03198
Quality Score
Status
Chromosome 8
Chromosomal Location 84852618-84859156 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 84858818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 548 (V548I)
Ref Sequence ENSEMBL: ENSMUSP00000091073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040383] [ENSMUST00000093380] [ENSMUST00000117424]
AlphaFold Q6P3Y9
Predicted Effect probably benign
Transcript: ENSMUST00000040383
SMART Domains Protein: ENSMUSP00000046449
Gene: ENSMUSG00000036686

DomainStartEndE-ValueType
low complexity region 41 51 N/A INTRINSIC
low complexity region 83 110 N/A INTRINSIC
DM14 137 194 1.02e-14 SMART
low complexity region 195 206 N/A INTRINSIC
low complexity region 229 238 N/A INTRINSIC
DM14 250 308 8.7e-23 SMART
DM14 342 400 7.44e-31 SMART
low complexity region 457 478 N/A INTRINSIC
DM14 487 545 4.62e-27 SMART
C2 649 763 5.08e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000093380
AA Change: V548I

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000091073
Gene: ENSMUSG00000012889
AA Change: V548I

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
LRRNT 38 71 1.91e0 SMART
LRR 70 89 1.81e2 SMART
LRR 90 115 1.76e-1 SMART
LRR 116 139 1.19e2 SMART
LRR 162 186 1.06e1 SMART
LRR 191 210 5.42e1 SMART
LRR 211 231 1.66e1 SMART
LRR 233 257 3.98e1 SMART
LRR_TYP 258 281 7.9e-4 SMART
LRR 304 328 9.24e1 SMART
LRR_TYP 329 352 4.72e-2 SMART
LRR 375 399 2.61e2 SMART
LRR_TYP 400 423 2.61e-4 SMART
LRR 424 444 3.18e1 SMART
LRR 445 470 3.27e1 SMART
LRR_TYP 471 494 3.63e-3 SMART
LRR 495 515 1.97e1 SMART
LRR 516 541 2.03e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117424
SMART Domains Protein: ENSMUSP00000112556
Gene: ENSMUSG00000036686

DomainStartEndE-ValueType
low complexity region 41 51 N/A INTRINSIC
low complexity region 83 110 N/A INTRINSIC
low complexity region 150 161 N/A INTRINSIC
low complexity region 184 193 N/A INTRINSIC
DM14 205 263 8.7e-23 SMART
DM14 297 355 7.44e-31 SMART
low complexity region 411 432 N/A INTRINSIC
DM14 441 499 4.62e-27 SMART
C2 603 717 5.08e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147175
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154029
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adhfe1 A T 1: 9,620,177 (GRCm39) probably benign Het
Atp6v0a2 T C 5: 124,789,425 (GRCm39) probably null Het
Brca1 G T 11: 101,403,537 (GRCm39) probably benign Het
Cd55 A T 1: 130,368,108 (GRCm39) C372S probably benign Het
Clip2 A T 5: 134,526,936 (GRCm39) probably benign Het
Dgkb A G 12: 38,186,615 (GRCm39) N262D probably damaging Het
Fam227b C T 2: 125,966,499 (GRCm39) probably null Het
Foxj2 G A 6: 122,809,966 (GRCm39) probably null Het
Gm4297 T A X: 24,418,810 (GRCm39) probably benign Het
Grik3 A G 4: 125,553,555 (GRCm39) D429G probably benign Het
Hcfc1 T C X: 72,994,935 (GRCm39) I924V possibly damaging Het
Lrrk1 A G 7: 65,956,642 (GRCm39) V411A probably damaging Het
Mdh1 A T 11: 21,514,168 (GRCm39) V83E probably damaging Het
Pa2g4 A G 10: 128,401,647 (GRCm39) V17A probably damaging Het
Polg A G 7: 79,101,470 (GRCm39) V1079A probably damaging Het
Polr2a G T 11: 69,638,107 (GRCm39) probably null Het
Ptk2 C T 15: 73,108,065 (GRCm39) S722N probably damaging Het
Rock2 A G 12: 17,025,508 (GRCm39) D1243G probably benign Het
Sirt4 T C 5: 115,621,061 (GRCm39) D37G probably benign Het
Slc35d1 T C 4: 103,042,085 (GRCm39) Y249C probably damaging Het
Snrnp27 A T 6: 86,659,968 (GRCm39) probably null Het
Srek1 T C 13: 103,881,443 (GRCm39) probably null Het
Sspo A T 6: 48,454,516 (GRCm39) I2951F probably benign Het
Stxbp3 A G 3: 108,734,405 (GRCm39) F40L probably damaging Het
Sympk T C 7: 18,778,921 (GRCm39) V604A possibly damaging Het
Tbc1d2b T C 9: 90,104,510 (GRCm39) Y544C probably damaging Het
Tnpo2 C T 8: 85,778,347 (GRCm39) T592I possibly damaging Het
Txndc16 T C 14: 45,388,941 (GRCm39) probably benign Het
Ubr5 A T 15: 38,045,964 (GRCm39) L120Q probably damaging Het
Wdfy4 A T 14: 32,847,844 (GRCm39) M836K probably damaging Het
Wdr48 A G 9: 119,741,479 (GRCm39) N141S probably benign Het
Zc3h7a A T 16: 10,980,528 (GRCm39) Y28* probably null Het
Zfp423 T C 8: 88,508,304 (GRCm39) D659G possibly damaging Het
Other mutations in Podnl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02738:Podnl1 APN 8 84,858,824 (GRCm39) missense probably benign 0.31
IGL03151:Podnl1 APN 8 84,858,818 (GRCm39) missense probably benign 0.44
IGL03197:Podnl1 APN 8 84,858,818 (GRCm39) missense probably benign 0.44
IGL03225:Podnl1 APN 8 84,858,818 (GRCm39) missense probably benign 0.44
IGL03290:Podnl1 APN 8 84,858,818 (GRCm39) missense probably benign 0.44
IGL03368:Podnl1 APN 8 84,858,818 (GRCm39) missense probably benign 0.44
IGL03493:Podnl1 APN 8 84,858,818 (GRCm39) missense probably benign 0.44
PIT4472001:Podnl1 UTSW 8 84,854,477 (GRCm39) missense
R1056:Podnl1 UTSW 8 84,855,905 (GRCm39) missense probably benign 0.00
R1962:Podnl1 UTSW 8 84,853,926 (GRCm39) missense probably benign 0.04
R4367:Podnl1 UTSW 8 84,853,897 (GRCm39) missense probably benign 0.03
R4412:Podnl1 UTSW 8 84,857,294 (GRCm39) missense probably benign 0.00
R4473:Podnl1 UTSW 8 84,858,614 (GRCm39) missense possibly damaging 0.89
R4715:Podnl1 UTSW 8 84,852,690 (GRCm39) start gained probably benign
R5009:Podnl1 UTSW 8 84,852,887 (GRCm39) missense probably benign 0.01
R5013:Podnl1 UTSW 8 84,852,965 (GRCm39) missense probably damaging 0.99
R5153:Podnl1 UTSW 8 84,857,272 (GRCm39) missense probably benign 0.00
R7596:Podnl1 UTSW 8 84,853,024 (GRCm39) missense
R8289:Podnl1 UTSW 8 84,858,552 (GRCm39) missense
R8343:Podnl1 UTSW 8 84,857,402 (GRCm39) missense
R8715:Podnl1 UTSW 8 84,855,956 (GRCm39) missense
Posted On 2016-08-02