Incidental Mutation 'IGL01115:Has3'
ID 51790
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 # IGL01115
Quality Score
Status
Chromosome 8
Chromosomal Location 107596874-107609534 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107605320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 509 (T509A)
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: T509A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000034385
Gene: ENSMUSG00000031910
AA Change: T509A

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: T509A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000135303
Gene: ENSMUSG00000031910
AA Change: T509A

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 T C 17: 46,621,352 (GRCm39) T934A probably benign Het
Ankzf1 T C 1: 75,169,259 (GRCm39) L55P probably damaging Het
Aoc1 T C 6: 48,883,131 (GRCm39) S336P probably damaging Het
Bmper T C 9: 23,310,985 (GRCm39) probably benign Het
Capza2 A G 6: 17,654,122 (GRCm39) N58S probably damaging Het
Cdca2 A G 14: 67,952,146 (GRCm39) V75A probably damaging Het
Chmp7 A G 14: 69,958,772 (GRCm39) S181P probably damaging Het
Colq A G 14: 31,267,085 (GRCm39) probably benign Het
Dennd5b A G 6: 148,911,246 (GRCm39) probably benign Het
Hsh2d T C 8: 72,954,463 (GRCm39) S282P probably damaging Het
Impg2 C T 16: 56,079,803 (GRCm39) P536S possibly damaging Het
Naip1 T A 13: 100,580,228 (GRCm39) probably null Het
Napb T C 2: 148,549,089 (GRCm39) Y111C probably damaging Het
Or8w1 T C 2: 87,465,728 (GRCm39) D121G probably damaging Het
Osmr A G 15: 6,876,682 (GRCm39) probably benign Het
Pcdh10 A G 3: 45,347,210 (GRCm39) T1002A probably damaging Het
Plcg2 T C 8: 118,284,068 (GRCm39) W122R probably damaging Het
Prpf19 C T 19: 10,877,567 (GRCm39) T204M probably damaging Het
Ptbp1 T A 10: 79,695,796 (GRCm39) probably benign Het
Ptpre T A 7: 135,272,493 (GRCm39) D402E probably damaging Het
Siglec1 T C 2: 130,916,422 (GRCm39) N1176S probably benign Het
Son A G 16: 91,456,346 (GRCm39) T1698A probably benign Het
Spata6l T C 19: 28,921,842 (GRCm39) probably null Het
Speer2 C T 16: 69,658,539 (GRCm39) W42* probably null Het
Taf5 T C 19: 47,063,521 (GRCm39) V357A probably benign Het
Tctn1 A G 5: 122,402,270 (GRCm39) S55P probably benign Het
Tmem115 T A 9: 107,411,781 (GRCm39) L35Q probably damaging Het
Tmem30c T A 16: 57,096,480 (GRCm39) probably benign Het
Tmprss7 T C 16: 45,481,152 (GRCm39) D678G probably damaging Het
Ugt1a7c A T 1: 88,022,967 (GRCm39) Q42L probably damaging Het
Unc13b T A 4: 43,258,492 (GRCm39) V4099E probably damaging Het
Usp36 G A 11: 118,176,786 (GRCm39) L11F probably damaging Het
Zfp955a T A 17: 33,461,554 (GRCm39) K193* probably null Het
Zranb2 T C 3: 157,252,328 (GRCm39) probably benign Het
Other mutations in Has3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:Has3 APN 8 107,605,231 (GRCm39) missense probably benign 0.14
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 2013-06-21