Incidental Mutation 'IGL03493:Podnl1'
ID 490725
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: 0.078) question?
Stock # IGL03493
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldoart1 G A 4: 72,769,884 (GRCm39) T253I probably damaging Het
Ampd2 T C 3: 107,982,674 (GRCm39) E694G probably damaging Het
Atcay C A 10: 81,046,407 (GRCm39) E306* probably null Het
Atp13a5 G T 16: 29,116,342 (GRCm39) D546E probably benign Het
C2cd2 T C 16: 97,682,861 (GRCm39) D125G probably damaging Het
Col23a1 T C 11: 51,455,632 (GRCm39) probably null Het
Col9a1 T A 1: 24,260,651 (GRCm39) probably benign Het
Cyp4a31 T A 4: 115,427,952 (GRCm39) probably null Het
Dnah11 G A 12: 117,976,533 (GRCm39) R2708C probably benign Het
Dzip3 T C 16: 48,772,059 (GRCm39) I537V probably benign Het
Ezh1 T C 11: 101,094,617 (GRCm39) T392A probably benign Het
Hsd17b14 A T 7: 45,205,515 (GRCm39) D42V probably damaging Het
Hsf2 A T 10: 57,381,462 (GRCm39) I294F probably damaging Het
Ibtk G T 9: 85,600,972 (GRCm39) S797R probably benign Het
Kif20b T A 19: 34,936,950 (GRCm39) C183* probably null Het
Lnpep G T 17: 17,799,433 (GRCm39) A74E probably damaging Het
Map4k1 A T 7: 28,683,576 (GRCm39) probably benign Het
Matn1 A G 4: 130,677,309 (GRCm39) R173G probably benign Het
Nyap1 A G 5: 137,733,278 (GRCm39) I585T probably damaging Het
Or13a27 A T 7: 139,925,066 (GRCm39) Y279N probably damaging Het
Or52e7 A G 7: 104,685,151 (GRCm39) T249A probably damaging Het
Or5d39 G A 2: 87,980,280 (GRCm39) P28S probably benign Het
Phactr2 A G 10: 13,133,413 (GRCm39) V190A probably benign Het
Rad51c A T 11: 87,288,579 (GRCm39) H201Q probably benign Het
Sec63 C A 10: 42,704,937 (GRCm39) D730E probably benign Het
Smarcc2 A G 10: 128,297,226 (GRCm39) I39M probably damaging Het
Trav2 A G 14: 52,804,745 (GRCm39) probably benign Het
Ugt3a1 A G 15: 9,361,569 (GRCm39) Y115C probably damaging Het
Zfp955b T G 17: 33,521,519 (GRCm39) H329Q probably benign 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
IGL03198: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
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 2017-10-20