Incidental Mutation 'IGL02551:Has1'
ID 298108
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Has1
Ensembl Gene ENSMUSG00000003665
Gene Name hyaluronan synthase 1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02551
Quality Score
Chromosome 17
Chromosomal Location 18063588-18075450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 18068560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 265 (V265I)
Ref Sequence ENSEMBL: ENSMUSP00000003762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003762]
AlphaFold Q61647
Predicted Effect probably damaging
Transcript: ENSMUST00000003762
AA Change: V265I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003762
Gene: ENSMUSG00000003665
AA Change: V265I

transmembrane domain 21 43 N/A INTRINSIC
transmembrane domain 53 75 N/A INTRINSIC
low complexity region 78 86 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 179 387 1.1e-21 PFAM
Pfam:Glyco_transf_21 205 386 1.2e-8 PFAM
Pfam:Chitin_synth_2 222 394 1.6e-16 PFAM
Pfam:Glyco_trans_2_3 237 453 5.6e-16 PFAM
transmembrane domain 464 486 N/A INTRINSIC
transmembrane domain 501 523 N/A INTRINSIC
transmembrane domain 544 566 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232410
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS1 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to the hasA gene product of Streptococcus pyogenes, a glycosaminoglycan synthetase (DG42) from Xenopus laevis, and a recently described murine hyaluronan synthase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and appear grossly normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik G A 1: 158,796,618 (GRCm39) noncoding transcript Het
Abca8a T C 11: 109,975,068 (GRCm39) I109V probably benign Het
Acsm2 C T 7: 119,172,507 (GRCm39) P117S probably damaging Het
Adamts18 C A 8: 114,425,704 (GRCm39) C1186F probably damaging Het
Adamts5 A T 16: 85,666,926 (GRCm39) V522E possibly damaging Het
Adcy10 A G 1: 165,370,802 (GRCm39) T694A probably damaging Het
Adgra2 G A 8: 27,609,250 (GRCm39) V609I probably benign Het
Agbl3 A G 6: 34,800,006 (GRCm39) K638R possibly damaging Het
Alpk2 T A 18: 65,505,822 (GRCm39) N66I probably damaging Het
Ap3b1 T A 13: 94,554,599 (GRCm39) I245N probably damaging Het
Aqp9 A G 9: 71,039,922 (GRCm39) V120A probably damaging Het
Arhgef17 T C 7: 100,579,553 (GRCm39) E465G probably damaging Het
Btrc G T 19: 45,411,573 (GRCm39) C31F possibly damaging Het
Calhm2 G A 19: 47,121,539 (GRCm39) S210L probably damaging Het
Cnksr3 C A 10: 7,102,912 (GRCm39) K153N probably damaging Het
Cnr1 T C 4: 33,943,686 (GRCm39) S25P probably benign Het
Dnajc6 T A 4: 101,496,550 (GRCm39) W838R probably damaging Het
Fam78a T A 2: 31,959,568 (GRCm39) T181S probably damaging Het
Fat1 A G 8: 45,504,435 (GRCm39) T4600A probably damaging Het
Fbxo31 A T 8: 122,293,083 (GRCm39) Y101N probably damaging Het
Glmp A G 3: 88,232,389 (GRCm39) M1V probably null Het
Gsdmc T A 15: 63,673,782 (GRCm39) T168S probably benign Het
Hmcn2 A G 2: 31,344,823 (GRCm39) D4670G possibly damaging Het
Kcnj4 C T 15: 79,369,103 (GRCm39) M292I probably benign Het
Kmo A T 1: 175,465,485 (GRCm39) S80C probably damaging Het
Lrrc8d C T 5: 105,961,414 (GRCm39) T608I possibly damaging Het
Mical2 A T 7: 111,923,197 (GRCm39) N635I probably benign Het
Nags T C 11: 102,038,767 (GRCm39) S403P probably damaging Het
Nalcn T A 14: 123,560,750 (GRCm39) I776F probably benign Het
Ncan A T 8: 70,555,112 (GRCm39) N1018K probably damaging Het
Notch3 T A 17: 32,373,705 (GRCm39) probably benign Het
Nup93 C T 8: 94,954,461 (GRCm39) Q53* probably null Het
Pdk2 T A 11: 94,919,412 (GRCm39) M288L probably benign Het
Pkd1 A G 17: 24,792,789 (GRCm39) Y1492C probably damaging Het
Pla2g12b T A 10: 59,239,692 (GRCm39) W34R probably damaging Het
Pla2g6 T A 15: 79,183,294 (GRCm39) D511V possibly damaging Het
Plin2 C A 4: 86,576,929 (GRCm39) M265I probably benign Het
Ppp6c A T 2: 39,096,669 (GRCm39) F78I probably damaging Het
Prop1 A T 11: 50,841,773 (GRCm39) M211K possibly damaging Het
Prr14l T A 5: 32,988,828 (GRCm39) E222D probably damaging Het
Rtkn A T 6: 83,128,905 (GRCm39) I454F probably damaging Het
Serinc2 T C 4: 130,154,567 (GRCm39) I226V probably benign Het
Sh3bp1 T A 15: 78,788,538 (GRCm39) H229Q probably benign Het
Slc13a3 G T 2: 165,266,493 (GRCm39) F348L probably damaging Het
Slc6a15 T A 10: 103,240,136 (GRCm39) probably benign Het
Spg7 G A 8: 123,803,717 (GRCm39) G249E probably damaging Het
Tbc1d2 T C 4: 46,649,916 (GRCm39) D40G probably benign Het
Tmcc2 A G 1: 132,285,317 (GRCm39) L683P probably damaging Het
Triobp T C 15: 78,857,689 (GRCm39) S1097P probably benign Het
Tspan9 T C 6: 127,942,726 (GRCm39) D167G probably null Het
Ttll6 T C 11: 96,045,526 (GRCm39) I581T probably benign Het
Usp29 A G 7: 6,966,352 (GRCm39) probably null Het
Vgll4 A G 6: 114,839,254 (GRCm39) W246R probably damaging Het
Vmn2r26 T C 6: 124,003,100 (GRCm39) V170A probably benign Het
Vmn2r62 T C 7: 42,437,930 (GRCm39) T185A probably benign Het
Vwce A G 19: 10,622,400 (GRCm39) H234R possibly damaging Het
Zfp292 T C 4: 34,806,462 (GRCm39) E2194G possibly damaging Het
Other mutations in Has1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01563:Has1 APN 17 18,063,924 (GRCm39) unclassified probably benign
R0149:Has1 UTSW 17 18,070,433 (GRCm39) missense probably damaging 1.00
R0496:Has1 UTSW 17 18,064,008 (GRCm39) missense probably benign
R0637:Has1 UTSW 17 18,064,125 (GRCm39) missense possibly damaging 0.67
R1051:Has1 UTSW 17 18,068,541 (GRCm39) missense probably damaging 1.00
R1647:Has1 UTSW 17 18,070,247 (GRCm39) missense probably damaging 1.00
R1648:Has1 UTSW 17 18,070,247 (GRCm39) missense probably damaging 1.00
R1768:Has1 UTSW 17 18,070,562 (GRCm39) missense probably benign
R2016:Has1 UTSW 17 18,068,532 (GRCm39) missense probably damaging 1.00
R3810:Has1 UTSW 17 18,067,822 (GRCm39) missense probably damaging 0.98
R4235:Has1 UTSW 17 18,070,298 (GRCm39) missense possibly damaging 0.62
R4467:Has1 UTSW 17 18,064,257 (GRCm39) missense probably benign 0.05
R5475:Has1 UTSW 17 18,068,583 (GRCm39) missense possibly damaging 0.57
R5682:Has1 UTSW 17 18,064,425 (GRCm39) missense possibly damaging 0.58
R6418:Has1 UTSW 17 18,070,207 (GRCm39) missense probably damaging 1.00
R6841:Has1 UTSW 17 18,064,122 (GRCm39) missense probably benign 0.06
R7076:Has1 UTSW 17 18,064,068 (GRCm39) missense probably damaging 1.00
R7767:Has1 UTSW 17 18,070,792 (GRCm39) missense probably damaging 1.00
R8878:Has1 UTSW 17 18,070,321 (GRCm39) missense possibly damaging 0.57
R9002:Has1 UTSW 17 18,063,912 (GRCm39) missense unknown
R9502:Has1 UTSW 17 18,063,971 (GRCm39) missense probably damaging 1.00
X0028:Has1 UTSW 17 18,070,715 (GRCm39) nonsense probably null
Posted On 2015-04-16