Incidental Mutation 'IGL00743:Hpse'
ID 11334
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hpse
Ensembl Gene ENSMUSG00000035273
Gene Name heparanase
Synonyms Hpa
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00743
Quality Score
Status
Chromosome 5
Chromosomal Location 100827350-100867582 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100846865 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 188 (D188G)
Ref Sequence ENSEMBL: ENSMUSP00000044072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045617] [ENSMUST00000112908]
AlphaFold Q6YGZ1
Predicted Effect probably benign
Transcript: ENSMUST00000045617
AA Change: D188G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000044072
Gene: ENSMUSG00000035273
AA Change: D188G

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Glyco_hydro_79n 132 362 1.8e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112908
AA Change: D188G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000108529
Gene: ENSMUSG00000035273
AA Change: D188G

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Glyco_hydro_79n 144 362 1.2e-24 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes an endoglucuronidase enzyme that plays an important role in tumor invasion and metastasis. The encoded preproprotein undergoes proteolytic processing to generate an active heterodimeric enzyme that cleaves the heparan sulfate proteoglycans associated with the cell surface and extracellular matrix. Mice lacking the encoded protein do not show any prominent pathological alterations under normal conditions but fail to develop albuminuria and renal damage in response to drug-induced diabetes. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit precocious mammry gland development, increased angiogenesis and increased neovascularization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss1 T C 2: 150,461,606 (GRCm39) E659G probably benign Het
Adgrg6 A C 10: 14,411,703 (GRCm39) probably benign Het
Als2cl A G 9: 110,718,227 (GRCm39) K323E possibly damaging Het
Atm A C 9: 53,424,416 (GRCm39) S628R probably benign Het
Baz2a T C 10: 127,950,395 (GRCm39) V443A probably benign Het
Bclaf3 T A X: 158,341,357 (GRCm39) F545Y probably benign Het
Calcr T C 6: 3,717,196 (GRCm39) Y88C probably damaging Het
Ccdc178 C T 18: 22,278,501 (GRCm39) probably benign Het
Cdh20 A G 1: 104,875,153 (GRCm39) T312A probably benign Het
Chrnd G A 1: 87,120,649 (GRCm39) W91* probably null Het
Cntln T C 4: 84,897,652 (GRCm39) F413S probably benign Het
Ctsq A T 13: 61,183,998 (GRCm39) I308N probably damaging Het
Cyp2d34 A T 15: 82,501,736 (GRCm39) V258D probably damaging Het
Dnajc13 G A 9: 104,039,979 (GRCm39) P2044S probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Hps6 A T 19: 45,992,099 (GRCm39) D12V probably damaging Het
Id2 C A 12: 25,145,355 (GRCm39) E123* probably null Het
Ints10 C T 8: 69,271,985 (GRCm39) P562L probably damaging Het
Kctd10 G A 5: 114,505,410 (GRCm39) R195C probably damaging Het
Kel A C 6: 41,665,509 (GRCm39) L537R probably damaging Het
Kif19a T C 11: 114,675,599 (GRCm39) V357A probably damaging Het
Lrrtm3 A T 10: 63,924,988 (GRCm39) S60T probably damaging Het
Myof C A 19: 37,949,382 (GRCm39) R608L probably benign Het
Naa35 A T 13: 59,778,485 (GRCm39) I669F probably benign Het
Or8g2b A T 9: 39,751,002 (GRCm39) I91F probably benign Het
Or8g53 A G 9: 39,683,407 (GRCm39) S230P possibly damaging Het
Pclo G T 5: 14,728,035 (GRCm39) probably benign Het
Pik3c3 C T 18: 30,407,417 (GRCm39) S55F probably damaging Het
Prdm6 T G 18: 53,673,300 (GRCm39) D153E possibly damaging Het
Rnf183 T C 4: 62,346,610 (GRCm39) T63A probably benign Het
Samd4b A C 7: 28,101,302 (GRCm39) I108S probably damaging Het
Slc9a7 T C X: 19,972,260 (GRCm39) D708G possibly damaging Het
Stim2 A G 5: 54,210,835 (GRCm39) D90G probably benign Het
Tmem52b A G 6: 129,493,678 (GRCm39) D97G probably damaging Het
Tnfsf15 T C 4: 63,652,518 (GRCm39) R98G probably benign Het
Uxs1 C T 1: 43,796,173 (GRCm39) V310I probably benign Het
Vcan A C 13: 89,873,425 (GRCm39) M143R probably damaging Het
Vmn2r93 T C 17: 18,546,504 (GRCm39) F792S probably damaging Het
Zfp455 T C 13: 67,355,962 (GRCm39) I345T probably benign Het
Zfp938 A T 10: 82,062,317 (GRCm39) M101K probably benign Het
Zkscan2 A G 7: 123,079,195 (GRCm39) S921P probably damaging Het
Other mutations in Hpse
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00517:Hpse APN 5 100,839,196 (GRCm39) missense possibly damaging 0.89
IGL02377:Hpse APN 5 100,839,199 (GRCm39) missense probably damaging 1.00
R0082:Hpse UTSW 5 100,840,128 (GRCm39) missense possibly damaging 0.93
R0194:Hpse UTSW 5 100,867,378 (GRCm39) missense probably benign
R1974:Hpse UTSW 5 100,840,104 (GRCm39) missense probably damaging 1.00
R2065:Hpse UTSW 5 100,846,797 (GRCm39) missense probably damaging 1.00
R2152:Hpse UTSW 5 100,839,269 (GRCm39) nonsense probably null
R2405:Hpse UTSW 5 100,856,637 (GRCm39) missense possibly damaging 0.78
R3791:Hpse UTSW 5 100,840,104 (GRCm39) missense probably damaging 1.00
R5127:Hpse UTSW 5 100,867,403 (GRCm39) missense unknown
R5147:Hpse UTSW 5 100,867,375 (GRCm39) missense probably benign 0.00
R5385:Hpse UTSW 5 100,856,590 (GRCm39) nonsense probably null
R6446:Hpse UTSW 5 100,843,435 (GRCm39) nonsense probably null
R7009:Hpse UTSW 5 100,840,145 (GRCm39) missense probably benign 0.01
R7186:Hpse UTSW 5 100,843,395 (GRCm39) missense probably damaging 1.00
R7681:Hpse UTSW 5 100,839,257 (GRCm39) missense possibly damaging 0.94
R7964:Hpse UTSW 5 100,846,777 (GRCm39) critical splice donor site probably null
R8064:Hpse UTSW 5 100,836,766 (GRCm39) missense probably benign 0.00
R8183:Hpse UTSW 5 100,832,984 (GRCm39) missense probably damaging 1.00
R8268:Hpse UTSW 5 100,846,907 (GRCm39) missense probably damaging 1.00
R8830:Hpse UTSW 5 100,843,452 (GRCm39) missense probably benign 0.12
R8845:Hpse UTSW 5 100,859,248 (GRCm39) missense probably benign
R8932:Hpse UTSW 5 100,846,872 (GRCm39) missense possibly damaging 0.84
R8998:Hpse UTSW 5 100,840,109 (GRCm39) missense probably damaging 1.00
R9731:Hpse UTSW 5 100,842,022 (GRCm39) missense probably damaging 1.00
X0022:Hpse UTSW 5 100,839,244 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06