Incidental Mutation 'R5283:Has3'
ID 402877
Institutional Source Beutler Lab
Gene Symbol Has3
Ensembl Gene ENSMUSG00000031910
Gene Name hyaluronan synthase 3
Synonyms
MMRRC Submission 042868-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5283 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 107596874-107609534 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107600747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 70 (M70V)
Ref Sequence ENSEMBL: ENSMUSP00000135596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034385] [ENSMUST00000175987] [ENSMUST00000176144]
AlphaFold O08650
Predicted Effect probably benign
Transcript: ENSMUST00000034385
AA Change: M70V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000034385
Gene: ENSMUSG00000031910
AA Change: M70V

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: M70V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135596
Gene: ENSMUSG00000031910
AA Change: M70V

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: M70V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000135303
Gene: ENSMUSG00000031910
AA Change: M70V

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: 99.4%
  • 3x: 98.9%
  • 10x: 97.9%
  • 20x: 96.7%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp C T 1: 74,323,165 (GRCm39) E53K possibly damaging Het
Amotl1 T C 9: 14,469,780 (GRCm39) E651G probably damaging Het
Ankrd11 A C 8: 123,610,921 (GRCm39) V2655G probably damaging Het
Apbb1ip G A 2: 22,757,683 (GRCm39) V434M probably benign Het
Atp5pd T C 11: 115,306,611 (GRCm39) Y150C probably damaging Het
Ccdc13 T A 9: 121,637,254 (GRCm39) D75V probably damaging Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Crh T C 3: 19,748,171 (GRCm39) H157R probably damaging Het
Cstdc6 T C 16: 36,142,205 (GRCm39) D57G probably damaging Het
Dpp4 G A 2: 62,190,680 (GRCm39) T392I probably damaging Het
Ehd3 G T 17: 74,127,498 (GRCm39) A144S probably benign Het
Fnip2 A T 3: 79,373,015 (GRCm39) I1021N probably damaging Het
Fus T A 7: 127,584,719 (GRCm39) probably benign Het
Glo1 T C 17: 30,819,047 (GRCm39) T92A probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm15130 A C 2: 110,965,754 (GRCm39) M165R unknown Het
Gon4l T C 3: 88,794,897 (GRCm39) L700P probably damaging Het
Grm1 C A 10: 10,608,936 (GRCm39) D566Y possibly damaging Het
Guca1b T C 17: 47,702,195 (GRCm39) probably benign Het
Hydin G T 8: 111,178,612 (GRCm39) C1069F possibly damaging Het
Ints1 A C 5: 139,750,137 (GRCm39) L920R probably damaging Het
Kdm2a T C 19: 4,381,297 (GRCm39) I54V probably benign Het
Kpna2 G A 11: 106,881,658 (GRCm39) T324I probably damaging Het
Lrr1 T C 12: 69,221,428 (GRCm39) L190S probably damaging Het
Lrrc49 A T 9: 60,594,461 (GRCm39) H16Q probably benign Het
Mab21l4 C T 1: 93,087,575 (GRCm39) D93N probably benign Het
Mapkap1 A G 2: 34,334,360 (GRCm39) E147G probably damaging Het
Mrpl2 C T 17: 46,959,992 (GRCm39) R219W possibly damaging Het
Muc21 A G 17: 35,932,224 (GRCm39) probably benign Het
Ndc80 A G 17: 71,828,130 (GRCm39) S66P probably benign Het
Notch1 A G 2: 26,358,638 (GRCm39) Y1398H probably damaging Het
Olfml2b C T 1: 170,508,758 (GRCm39) R539* probably null Het
Or6b9 T A 7: 106,555,955 (GRCm39) T63S probably benign Het
Pde7a T C 3: 19,314,420 (GRCm39) T59A probably damaging Het
Plekhg1 G A 10: 3,906,654 (GRCm39) V524I probably benign Het
Plin4 T A 17: 56,413,777 (GRCm39) M283L probably benign Het
Prp2 C T 6: 132,577,606 (GRCm39) P298S unknown Het
Rap1gap2 G A 11: 74,286,651 (GRCm39) R550C probably damaging Het
Reln G A 5: 22,216,161 (GRCm39) T1008I probably damaging Het
Rffl T C 11: 82,703,615 (GRCm39) K103E probably damaging Het
Rmnd5b A T 11: 51,517,887 (GRCm39) F156I probably damaging Het
Rtn4ip1 T C 10: 43,778,461 (GRCm39) I68T probably damaging Het
Samhd1 T C 2: 156,951,412 (GRCm39) I442V possibly damaging Het
Slc12a4 A T 8: 106,677,326 (GRCm39) probably null Het
Slc35b1 G T 11: 95,275,814 (GRCm39) probably benign Het
Ssh1 A G 5: 114,088,606 (GRCm39) V354A probably damaging Het
Stk33 T C 7: 108,935,334 (GRCm39) K153E possibly damaging Het
Stk4 C T 2: 163,952,199 (GRCm39) R19* probably null Het
Tas2r136 A T 6: 132,754,374 (GRCm39) I251N probably damaging Het
Tbr1 A T 2: 61,635,244 (GRCm39) T65S probably benign Het
Tkt C T 14: 30,282,575 (GRCm39) S124F probably damaging Het
Tll1 T C 8: 64,555,000 (GRCm39) I228V possibly damaging Het
Tmem236 A G 2: 14,179,644 (GRCm39) I82V probably benign Het
Vmn2r110 T C 17: 20,800,899 (GRCm39) Q511R probably benign Het
Vmn2r98 T C 17: 19,300,981 (GRCm39) M661T probably benign Het
Vps13a T A 19: 16,655,334 (GRCm39) K1898I probably damaging Het
Zc3h12a T C 4: 125,020,558 (GRCm39) E95G probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CAGTCTGTTTGCCCTGGTAG -3'
(R):5'- AAGAAGCCAGCTTGCTCAGTG -3'

Sequencing Primer
(F):5'- TAGTGCTGGGAGGCATCC -3'
(R):5'- CAACATGTAGGTATCTTCCTGGCG -3'
Posted On 2016-07-22