Incidental Mutation 'IGL02598:Podxl'
ID299963
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Podxl
Ensembl Gene ENSMUSG00000025608
Gene Namepodocalyxin-like
SynonymsPC, Ly102, podocalyxin, Pclp1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02598
Quality Score
Status
Chromosome6
Chromosomal Location31519488-31563981 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 31524420 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 400 (E400G)
Ref Sequence ENSEMBL: ENSMUSP00000026698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026698]
Predicted Effect probably damaging
Transcript: ENSMUST00000026698
AA Change: E400G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026698
Gene: ENSMUSG00000025608
AA Change: E400G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 61 91 N/A INTRINSIC
low complexity region 104 130 N/A INTRINSIC
low complexity region 196 208 N/A INTRINSIC
low complexity region 265 278 N/A INTRINSIC
Pfam:CD34_antigen 301 503 6e-76 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136877
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality and severe kidney defects including absence of the podocyte slit diaphragm and foot processes and anuria. While a subset display edema and/or omphalocele, most mice appear normal at birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933414I15Rik A T 11: 50,943,621 M1K probably null Het
Abca13 C T 11: 9,431,898 T3850I probably damaging Het
Abcc4 A T 14: 118,668,369 L95* probably null Het
Acacb A G 5: 114,246,037 Y2209C probably damaging Het
Acadm A G 3: 153,938,544 probably benign Het
Arid2 G A 15: 96,371,536 V1177M probably damaging Het
Atp8a1 A T 5: 67,682,756 probably null Het
BC048403 G A 10: 121,739,971 probably benign Het
Catsperd A G 17: 56,647,815 probably null Het
Cd28 A G 1: 60,763,339 probably benign Het
Cep164 A G 9: 45,770,704 Y1934H probably damaging Het
Cep350 T C 1: 155,862,967 I2377V probably benign Het
Csmd3 T C 15: 47,669,690 K1581E probably damaging Het
Dab2 A T 15: 6,429,366 N232I probably damaging Het
Dyrk4 G A 6: 126,884,019 probably benign Het
Efcab14 T A 4: 115,740,434 C75* probably null Het
Elovl1 T C 4: 118,431,419 probably null Het
Eps8l2 T G 7: 141,354,936 probably benign Het
Gm4907 A T X: 23,907,471 T404S probably benign Het
Grik1 A T 16: 87,947,984 V460E probably damaging Het
Gtf2f2 A G 14: 76,007,742 S35P probably benign Het
Ifi203 A G 1: 173,935,002 probably benign Het
Ifi209 T C 1: 173,644,715 V374A probably damaging Het
Lars A G 18: 42,227,277 S705P possibly damaging Het
Lcmt1 A G 7: 123,421,648 probably benign Het
Limd1 T A 9: 123,480,171 Y312N probably benign Het
Limd1 T C 9: 123,516,868 S571P probably benign Het
Lin28b A T 10: 45,420,526 D125E possibly damaging Het
Lmtk3 T C 7: 45,793,140 S416P probably damaging Het
Map7d3 T C X: 56,809,786 T446A probably benign Het
Masp1 T A 16: 23,459,631 M523L probably benign Het
Mroh4 C A 15: 74,611,243 probably null Het
Mtmr6 G A 14: 60,300,504 A651T probably damaging Het
Myocd A G 11: 65,183,470 S738P probably benign Het
Olfr1176 A T 2: 88,340,251 I229F possibly damaging Het
Olfr685 A G 7: 105,180,956 V134A probably damaging Het
Olfr714 A T 7: 107,074,716 N296I possibly damaging Het
Olfr803 A T 10: 129,691,273 I256N possibly damaging Het
Olfr984 A T 9: 40,100,565 F308L probably benign Het
Parg G T 14: 32,214,324 V479L probably damaging Het
Pcdhb10 C A 18: 37,413,781 H637N possibly damaging Het
Plekhg2 G A 7: 28,360,475 T1118I possibly damaging Het
Prss54 C A 8: 95,565,709 V81F probably damaging Het
Pzp A G 6: 128,487,457 L1369P probably benign Het
Rfx8 A T 1: 39,695,968 probably benign Het
Rgs6 C T 12: 83,091,797 P302S probably benign Het
Rnf148 A C 6: 23,654,457 I180S probably damaging Het
Sacm1l A G 9: 123,578,996 D350G probably benign Het
Slc33a1 C T 3: 63,943,332 G524S probably benign Het
Slc5a7 A G 17: 54,284,193 V237A probably benign Het
Spink7 T C 18: 62,594,285 D56G probably damaging Het
Syn3 A G 10: 86,467,199 S31P probably damaging Het
Thrb C A 14: 18,008,606 P110Q possibly damaging Het
Vmn2r76 G T 7: 86,228,671 T506K probably benign Het
Vps45 A G 3: 96,031,042 L486P probably benign Het
Zan G A 5: 137,446,211 T1823M unknown Het
Zdhhc6 T A 19: 55,314,527 Q14L probably benign Het
Zfp990 A T 4: 145,536,963 N177I possibly damaging Het
Other mutations in Podxl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Podxl APN 6 31528704 missense possibly damaging 0.53
IGL01576:Podxl APN 6 31524384 missense probably damaging 1.00
IGL02151:Podxl APN 6 31524459 missense possibly damaging 0.65
IGL02240:Podxl APN 6 31524998 missense probably damaging 1.00
IGL02487:Podxl APN 6 31523022 makesense probably null
IGL02957:Podxl APN 6 31528449 splice site probably benign
R2042:Podxl UTSW 6 31523116 missense possibly damaging 0.75
R3840:Podxl UTSW 6 31523081 missense probably damaging 1.00
R4675:Podxl UTSW 6 31526644 missense possibly damaging 0.95
R5509:Podxl UTSW 6 31526613 missense probably benign 0.00
R5754:Podxl UTSW 6 31524394 missense probably damaging 1.00
R5876:Podxl UTSW 6 31528456 critical splice donor site probably null
R6242:Podxl UTSW 6 31526245 missense probably benign 0.30
R6376:Podxl UTSW 6 31528497 missense probably benign 0.00
R6493:Podxl UTSW 6 31525046 missense probably damaging 1.00
R7113:Podxl UTSW 6 31524733 critical splice acceptor site probably null
R7299:Podxl UTSW 6 31524436 missense probably damaging 1.00
R7301:Podxl UTSW 6 31524436 missense probably damaging 1.00
R7338:Podxl UTSW 6 31529006 missense unknown
R7358:Podxl UTSW 6 31524994 missense probably benign 0.03
Z1176:Podxl UTSW 6 31528634 missense probably damaging 0.98
Z1177:Podxl UTSW 6 31528524 missense possibly damaging 0.65
Posted On2015-04-16