Incidental Mutation 'IGL03026:Has3'
ID 408155
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 # IGL03026
Quality Score
Status
Chromosome 8
Chromosomal Location 107596874-107609534 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107605242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 483 (I483F)
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: I483F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000034385
Gene: ENSMUSG00000031910
AA Change: I483F

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: I483F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000135303
Gene: ENSMUSG00000031910
AA Change: I483F

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly A G 11: 100,410,516 (GRCm39) V154A possibly damaging Het
Adcy4 T C 14: 56,015,467 (GRCm39) Y481C probably damaging Het
Adcy5 T C 16: 34,977,412 (GRCm39) V315A probably benign Het
Atf7ip G A 6: 136,582,380 (GRCm39) S1130N possibly damaging Het
Ctss A G 3: 95,446,141 (GRCm39) D87G probably benign Het
Cwf19l2 A T 9: 3,428,777 (GRCm39) K254N probably benign Het
Dnajc10 A G 2: 80,179,647 (GRCm39) D727G probably damaging Het
Dsg3 G A 18: 20,670,029 (GRCm39) probably null Het
Ehmt1 T C 2: 24,742,746 (GRCm39) M478V probably benign Het
Enam A T 5: 88,651,158 (GRCm39) N889I probably benign Het
Exo1 G T 1: 175,736,003 (GRCm39) *148L probably null Het
Fam133b G T 5: 3,609,646 (GRCm39) probably benign Het
Foxj2 G A 6: 122,815,139 (GRCm39) A392T probably benign Het
Gbp4 G T 5: 105,267,866 (GRCm39) A460E possibly damaging Het
H1f5 G A 13: 21,964,117 (GRCm39) probably benign Het
Irak2 T A 6: 113,653,612 (GRCm39) V260E probably damaging Het
Kcnj8 T C 6: 142,512,199 (GRCm39) probably null Het
Lama5 A G 2: 179,837,760 (GRCm39) V936A probably benign Het
Lmo7 C T 14: 102,166,769 (GRCm39) probably benign Het
Morc3 T A 16: 93,659,612 (GRCm39) probably benign Het
Muc6 T C 7: 141,226,414 (GRCm39) probably benign Het
Nkx2-2 T C 2: 147,027,742 (GRCm39) Y66C probably damaging Het
Oaz1 G A 10: 80,664,634 (GRCm39) probably benign Het
Or2y1f A T 11: 49,184,285 (GRCm39) I46F probably damaging Het
Or6c38 G A 10: 128,929,057 (GRCm39) A262V possibly damaging Het
Or6c65 A T 10: 129,603,910 (GRCm39) M182L probably benign Het
Pkd2 A T 5: 104,642,753 (GRCm39) probably benign Het
Plcb4 A G 2: 135,792,349 (GRCm39) probably benign Het
Ralgapa2 C A 2: 146,302,695 (GRCm39) probably benign Het
Rfx7 T C 9: 72,526,967 (GRCm39) S1386P probably damaging Het
Ric1 T G 19: 29,577,233 (GRCm39) W1046G probably benign Het
Rrp12 C A 19: 41,861,436 (GRCm39) R957L probably damaging Het
Scn7a T C 2: 66,506,442 (GRCm39) I1482M probably damaging Het
Sema3b T C 9: 107,479,262 (GRCm39) N236S probably damaging Het
Skint6 T A 4: 112,848,441 (GRCm39) probably null Het
Slfn5 T C 11: 82,847,387 (GRCm39) Y91H probably benign Het
Sptbn2 T A 19: 4,774,261 (GRCm39) probably null Het
Szt2 A G 4: 118,249,046 (GRCm39) L546P probably benign Het
Tas1r3 A G 4: 155,946,300 (GRCm39) probably benign Het
Trim75 A G 8: 65,436,438 (GRCm39) V4A probably benign Het
Usp19 T C 9: 108,370,344 (GRCm39) L56P probably damaging Het
Vmn1r181 T G 7: 23,684,000 (GRCm39) I155S possibly damaging Het
Vmn2r43 G T 7: 8,258,096 (GRCm39) D372E probably benign Het
Vstm2b C A 7: 40,551,945 (GRCm39) S99* probably null Het
Wdr11 A G 7: 129,226,060 (GRCm39) D735G probably damaging Het
Wee2 T A 6: 40,438,915 (GRCm39) M346K probably benign Het
Zap70 A G 1: 36,818,798 (GRCm39) K371R possibly damaging Het
Zfp990 A T 4: 145,263,680 (GRCm39) H226L possibly damaging Het
Other mutations in Has3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:Has3 APN 8 107,605,231 (GRCm39) missense probably benign 0.14
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
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 2016-08-02