Incidental Mutation 'IGL00924:Has3'
ID 28022
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Has3
Ensembl Gene ENSMUSG00000031910
Gene Name hyaluronan synthase 3
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00924
Quality Score
Status
Chromosome 8
Chromosomal Location 107596874-107609534 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107605231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 479 (F479S)
Ref Sequence ENSEMBL: ENSMUSP00000135303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034385] [ENSMUST00000175987] [ENSMUST00000176144]
AlphaFold O08650
Predicted Effect probably benign
Transcript: ENSMUST00000034385
AA Change: F479S

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000034385
Gene: ENSMUSG00000031910
AA Change: F479S

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
transmembrane domain 42 64 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 85 361 4e-22 PFAM
Pfam:Glycos_transf_2 183 300 4.5e-7 PFAM
Pfam:Glyco_transf_21 188 360 5.7e-8 PFAM
Pfam:Chitin_synth_2 198 451 7.7e-17 PFAM
Pfam:Glyco_trans_2_3 211 538 1.7e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175987
SMART Domains Protein: ENSMUSP00000135596
Gene: ENSMUSG00000031910

DomainStartEndE-ValueType
transmembrane domain 11 33 N/A INTRINSIC
transmembrane domain 43 65 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 85 251 1.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176144
AA Change: F479S

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000135303
Gene: ENSMUSG00000031910
AA Change: F479S

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
transmembrane domain 42 64 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 85 361 4.5e-24 PFAM
Pfam:Glyco_transf_21 189 360 7e-8 PFAM
Pfam:Chitin_synth_2 197 457 3.2e-16 PFAM
Pfam:Glyco_trans_2_3 211 537 5e-12 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the synthesis of the unbranched glycosaminoglycan hyaluronan, or hyaluronic acid, which is a major constituent of the extracellular matrix. This gene is a member of the NODC/HAS gene family. Compared to the proteins encoded by other members of this gene family, this protein appears to be more of a regulator of hyaluronan synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a null allele are viable and fertile with normal static and dynamic compliances and display a reduced high tidal volume ventilation-induced inflammatory response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A G 1: 59,255,021 (GRCm39) V112A probably benign Het
Atp1a4 T A 1: 172,074,339 (GRCm39) I305F probably damaging Het
AW209491 A G 13: 14,811,660 (GRCm39) N171S probably damaging Het
Bank1 G T 3: 135,953,395 (GRCm39) A120E probably damaging Het
Bdp1 T A 13: 100,234,087 (GRCm39) E206D possibly damaging Het
Brd1 T C 15: 88,613,612 (GRCm39) K428E possibly damaging Het
Ccdc42 A G 11: 68,485,447 (GRCm39) I191V probably benign Het
Coa7 G T 4: 108,195,505 (GRCm39) G145C possibly damaging Het
Cpm T G 10: 117,511,971 (GRCm39) I305S probably damaging Het
Cracd A G 5: 77,006,833 (GRCm39) T1065A unknown Het
Dlc1 A T 8: 37,405,368 (GRCm39) S140R probably benign Het
Dnajc14 A G 10: 128,653,188 (GRCm39) T674A probably benign Het
Dnajc7 A G 11: 100,475,111 (GRCm39) I437T possibly damaging Het
Entpd5 A T 12: 84,433,828 (GRCm39) V147E probably damaging Het
Gpr139 A G 7: 118,783,510 (GRCm39) C30R probably benign Het
Habp4 A G 13: 64,321,885 (GRCm39) D174G probably damaging Het
Helb T A 10: 119,946,889 (GRCm39) K141N probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Kdm1b G A 13: 47,221,956 (GRCm39) R465H probably benign Het
Lrrc57 A T 2: 120,436,532 (GRCm39) M86K possibly damaging Het
Map7d1 A G 4: 126,132,398 (GRCm39) V258A probably damaging Het
Mtcl2 T G 2: 156,882,625 (GRCm39) M476L probably damaging Het
Mybbp1a T A 11: 72,334,393 (GRCm39) F216Y probably damaging Het
Ncan T A 8: 70,561,039 (GRCm39) M643L possibly damaging Het
Ngdn T C 14: 55,260,626 (GRCm39) I278T probably damaging Het
Or4c104 T C 2: 88,586,500 (GRCm39) D173G possibly damaging Het
Or9a4 C T 6: 40,548,388 (GRCm39) R23C probably benign Het
P4hb G T 11: 120,454,644 (GRCm39) Q245K probably benign Het
Pcx G A 19: 4,670,965 (GRCm39) V1089I probably benign Het
Phc3 A T 3: 30,990,624 (GRCm39) M498K probably damaging Het
Pkd1 T A 17: 24,790,601 (GRCm39) L1025* probably null Het
Sdhaf2 G A 19: 10,494,380 (GRCm39) P110S probably damaging Het
Slc22a20 T C 19: 6,020,544 (GRCm39) K538E probably benign Het
Spag11b T A 8: 19,192,656 (GRCm39) V78D probably damaging Het
Tgm3 T C 2: 129,880,294 (GRCm39) C367R probably damaging Het
Unc5a G A 13: 55,152,327 (GRCm39) E741K probably damaging Het
Vmn2r58 A T 7: 41,486,891 (GRCm39) L668H probably damaging Het
Wdr62 G A 7: 29,964,643 (GRCm39) T367I probably damaging Het
Wdr62 G A 7: 29,942,231 (GRCm39) P603S probably damaging Het
Xab2 G A 8: 3,661,723 (GRCm39) R577W probably damaging Het
Other mutations in Has3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01115:Has3 APN 8 107,605,320 (GRCm39) missense probably benign 0.01
IGL01565:Has3 APN 8 107,601,077 (GRCm39) missense probably benign
IGL02341:Has3 APN 8 107,600,637 (GRCm39) missense probably damaging 1.00
IGL03026:Has3 APN 8 107,605,242 (GRCm39) missense probably benign 0.02
R1852:Has3 UTSW 8 107,600,711 (GRCm39) missense probably damaging 0.98
R1956:Has3 UTSW 8 107,605,435 (GRCm39) missense probably benign 0.00
R1958:Has3 UTSW 8 107,605,435 (GRCm39) missense probably benign 0.00
R2256:Has3 UTSW 8 107,600,888 (GRCm39) missense probably damaging 1.00
R4296:Has3 UTSW 8 107,605,054 (GRCm39) missense possibly damaging 0.90
R4726:Has3 UTSW 8 107,604,718 (GRCm39) missense probably damaging 1.00
R5283:Has3 UTSW 8 107,600,747 (GRCm39) missense probably damaging 0.99
R5526:Has3 UTSW 8 107,600,579 (GRCm39) missense probably damaging 1.00
R8805:Has3 UTSW 8 107,601,135 (GRCm39) missense probably damaging 0.99
R9203:Has3 UTSW 8 107,600,852 (GRCm39) missense probably damaging 1.00
R9426:Has3 UTSW 8 107,600,823 (GRCm39) missense probably damaging 1.00
Z1177:Has3 UTSW 8 107,600,650 (GRCm39) missense probably benign 0.00
Posted On 2013-04-17