Incidental Mutation 'R9426:Has3'
ID 712631
Institutional Source Beutler Lab
Gene Symbol Has3
Ensembl Gene ENSMUSG00000031910
Gene Name hyaluronan synthase 3
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9426 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 107596874-107609534 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107600823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 95 (Y95C)
Ref Sequence ENSEMBL: ENSMUSP00000034385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034385] [ENSMUST00000175987] [ENSMUST00000176144]
AlphaFold O08650
Predicted Effect probably damaging
Transcript: ENSMUST00000034385
AA Change: Y95C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034385
Gene: ENSMUSG00000031910
AA Change: Y95C

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 damaging
Transcript: ENSMUST00000175987
AA Change: Y95C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135596
Gene: ENSMUSG00000031910
AA Change: Y95C

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 damaging
Transcript: ENSMUST00000176144
AA Change: Y95C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135303
Gene: ENSMUSG00000031910
AA Change: Y95C

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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
Abca7 A G 10: 79,851,264 (GRCm39) D2159G possibly damaging Het
Adamts8 A G 9: 30,864,721 (GRCm39) Y404C possibly damaging Het
Adprhl1 A G 8: 13,274,034 (GRCm39) F908S possibly damaging Het
Arhgef16 A C 4: 154,366,300 (GRCm39) L489R probably damaging Het
Asmt G A X: 169,110,199 (GRCm39) G236E probably damaging Het
Ces2e A G 8: 105,656,220 (GRCm39) Y177C probably damaging Het
Cfap43 A G 19: 47,814,237 (GRCm39) I199T probably damaging Het
Chac1 T A 2: 119,183,914 (GRCm39) F172Y possibly damaging Het
Cldnd2 A T 7: 43,092,688 (GRCm39) I160F possibly damaging Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Coq10b C G 1: 55,106,719 (GRCm39) L175V possibly damaging Het
Cpne6 T C 14: 55,751,176 (GRCm39) probably null Het
Dnai4 A T 4: 102,906,743 (GRCm39) I690N probably damaging Het
Eif2b3 C A 4: 116,923,578 (GRCm39) Y264* probably null Het
Fcgbpl1 A T 7: 27,843,281 (GRCm39) H723L possibly damaging Het
Fhod1 C T 8: 106,056,490 (GRCm39) R1100Q probably benign Het
Hao1 T A 2: 134,347,555 (GRCm39) H250L probably benign Het
Hoxc10 A T 15: 102,879,289 (GRCm39) K270* probably null Het
Kcnq5 A G 1: 21,473,118 (GRCm39) F710L probably benign Het
Knl1 C T 2: 118,899,979 (GRCm39) T560I possibly damaging Het
Ltbp1 C T 17: 75,598,309 (GRCm39) R597W possibly damaging Het
Nfib T G 4: 82,416,529 (GRCm39) T170P probably damaging Het
Nup210l C T 3: 90,107,173 (GRCm39) P1570L probably benign Het
Optn T A 2: 5,059,485 (GRCm39) E11V possibly damaging Het
Or4d2b A T 11: 87,780,056 (GRCm39) L222Q probably damaging Het
Phf3 A T 1: 30,870,625 (GRCm39) L141* probably null Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Prkcg C T 7: 3,375,975 (GRCm39) S540F probably damaging Het
Ptbp1 T A 10: 79,694,897 (GRCm39) I75N probably damaging Het
R3hdm1 T C 1: 128,164,212 (GRCm39) L1042P probably damaging Het
Scmh1 T C 4: 120,362,556 (GRCm39) V264A probably benign Het
Sec23a A G 12: 59,053,890 (GRCm39) V36A probably benign Het
Senp2 A G 16: 21,828,491 (GRCm39) S34G probably damaging Het
Serpina3a A G 12: 104,087,649 (GRCm39) N191D probably benign Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Smchd1 C T 17: 71,672,125 (GRCm39) S1643N probably benign Het
Snrk T A 9: 121,986,326 (GRCm39) Y232N probably damaging Het
Spata31h1 T A 10: 82,126,610 (GRCm39) K2133N probably damaging Het
Spmip3 T A 1: 177,570,834 (GRCm39) L56* probably null Het
St6galnac6 T C 2: 32,505,094 (GRCm39) I202T probably damaging Het
Stab2 T C 10: 86,704,911 (GRCm39) K1819R probably damaging Het
Strn3 T C 12: 51,694,873 (GRCm39) T297A probably damaging Het
Sult1b1 T A 5: 87,665,280 (GRCm39) E218V probably damaging Het
Tcp10c T C 17: 13,584,463 (GRCm39) S275P probably benign Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Urb2 T G 8: 124,755,285 (GRCm39) L331V probably damaging Het
Zfp592 A T 7: 80,674,205 (GRCm39) T390S probably 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
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
Z1177:Has3 UTSW 8 107,600,650 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAGTCTGTTTGCCCTGGTAG -3'
(R):5'- AAAGAAGCCAGCTTGCTCAG -3'

Sequencing Primer
(F):5'- ATGTGACAGGCTACCAGTTTATCC -3'
(R):5'- AGCTTGCTCAGTGCCAC -3'
Posted On 2022-05-16