Incidental Mutation 'IGL03493:Podnl1'
ID490725
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Podnl1
Ensembl Gene ENSMUSG00000012889
Gene Namepodocan-like 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.090) question?
Stock #IGL03493
Quality Score
Status
Chromosome8
Chromosomal Location84125989-84132527 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 84132189 bp
ZygosityHeterozygous
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]
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: 72,851,647 T253I probably damaging Het
Ampd2 T C 3: 108,075,358 E694G probably damaging Het
Atcay C A 10: 81,210,573 E306* probably null Het
Atp13a5 G T 16: 29,297,524 D546E probably benign Het
C2cd2 T C 16: 97,881,661 D125G probably damaging Het
Col23a1 T C 11: 51,564,805 probably null Het
Col9a1 T A 1: 24,221,570 probably benign Het
Cyp4a31 T A 4: 115,570,755 probably null Het
Dnah11 G A 12: 118,012,798 R2708C probably benign Het
Dzip3 T C 16: 48,951,696 I537V probably benign Het
Ezh1 T C 11: 101,203,791 T392A probably benign Het
Hsd17b14 A T 7: 45,556,091 D42V probably damaging Het
Hsf2 A T 10: 57,505,366 I294F probably damaging Het
Ibtk G T 9: 85,718,919 S797R probably benign Het
Kif20b T A 19: 34,959,550 C183* probably null Het
Lnpep G T 17: 17,579,171 A74E probably damaging Het
Map4k1 A T 7: 28,984,151 probably benign Het
Matn1 A G 4: 130,949,998 R173G probably benign Het
Nyap1 A G 5: 137,735,016 I585T probably damaging Het
Olfr1167 G A 2: 88,149,936 P28S probably benign Het
Olfr60 A T 7: 140,345,153 Y279N probably damaging Het
Olfr676 A G 7: 105,035,944 T249A probably damaging Het
Phactr2 A G 10: 13,257,669 V190A probably benign Het
Rad51c A T 11: 87,397,753 H201Q probably benign Het
Sec63 C A 10: 42,828,941 D730E probably benign Het
Smarcc2 A G 10: 128,461,357 I39M probably damaging Het
Trav2 A G 14: 52,567,288 probably benign Het
Ugt3a2 A G 15: 9,361,483 Y115C probably damaging Het
Zfp955b T G 17: 33,302,545 H329Q probably benign Het
Other mutations in Podnl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02738:Podnl1 APN 8 84132195 missense probably benign 0.31
IGL03151:Podnl1 APN 8 84132189 missense probably benign 0.44
IGL03197:Podnl1 APN 8 84132189 missense probably benign 0.44
IGL03198:Podnl1 APN 8 84132189 missense probably benign 0.44
IGL03225:Podnl1 APN 8 84132189 missense probably benign 0.44
IGL03290:Podnl1 APN 8 84132189 missense probably benign 0.44
IGL03368:Podnl1 APN 8 84132189 missense probably benign 0.44
PIT4472001:Podnl1 UTSW 8 84127848 missense
R1056:Podnl1 UTSW 8 84129276 missense probably benign 0.00
R1962:Podnl1 UTSW 8 84127297 missense probably benign 0.04
R4367:Podnl1 UTSW 8 84127268 missense probably benign 0.03
R4412:Podnl1 UTSW 8 84130665 missense probably benign 0.00
R4473:Podnl1 UTSW 8 84131985 missense possibly damaging 0.89
R4715:Podnl1 UTSW 8 84126061 start gained probably benign
R5009:Podnl1 UTSW 8 84126258 missense probably benign 0.01
R5013:Podnl1 UTSW 8 84126336 missense probably damaging 0.99
R5153:Podnl1 UTSW 8 84130643 missense probably benign 0.00
Posted On2017-10-20