Incidental Mutation 'R0637:Has1'
ID 56781
Institutional Source Beutler Lab
Gene Symbol Has1
Ensembl Gene ENSMUSG00000003665
Gene Name hyaluronan synthase 1
Synonyms
MMRRC Submission 038826-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0637 (G1)
Quality Score 217
Status Validated
Chromosome 17
Chromosomal Location 18063588-18075450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18064125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 505 (Y505H)
Ref Sequence ENSEMBL: ENSMUSP00000003762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003762] [ENSMUST00000139969] [ENSMUST00000172097] [ENSMUST00000228490] [ENSMUST00000226899]
AlphaFold Q61647
Predicted Effect possibly damaging
Transcript: ENSMUST00000003762
AA Change: Y505H

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000003762
Gene: ENSMUSG00000003665
AA Change: Y505H

DomainStartEndE-ValueType
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: ENSMUST00000052338
Predicted Effect probably benign
Transcript: ENSMUST00000139969
SMART Domains Protein: ENSMUSP00000119658
Gene: ENSMUSG00000080316

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Blast:IG 151 186 1e-17 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000154301
SMART Domains Protein: ENSMUSP00000117377
Gene: ENSMUSG00000080316

DomainStartEndE-ValueType
Blast:IG 27 78 2e-32 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000172097
SMART Domains Protein: ENSMUSP00000128732
Gene: ENSMUSG00000080316

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
IG 171 260 2.08e-1 SMART
transmembrane domain 310 332 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179350
Predicted Effect probably benign
Transcript: ENSMUST00000228490
Predicted Effect probably benign
Transcript: ENSMUST00000226899
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232410
Meta Mutation Damage Score 0.0972 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 94.9%
Validation Efficiency 100% (68/68)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 C T 9: 53,498,831 (GRCm39) D285N probably damaging Het
Aldh3a1 G A 11: 61,106,304 (GRCm39) probably benign Het
Alms1 A G 6: 85,600,015 (GRCm39) T2083A possibly damaging Het
Atrip C T 9: 108,890,241 (GRCm39) M143I possibly damaging Het
Aup1 T A 6: 83,033,842 (GRCm39) V344D probably damaging Het
Baiap2 G A 11: 119,891,405 (GRCm39) V511M probably benign Het
Bnip2 T A 9: 69,910,955 (GRCm39) probably null Het
Cacna1i A T 15: 80,256,855 (GRCm39) Y1083F probably damaging Het
Cbr4 T C 8: 61,943,740 (GRCm39) probably benign Het
Ces2b C T 8: 105,561,237 (GRCm39) probably benign Het
Chd1 A G 17: 15,962,550 (GRCm39) N769S possibly damaging Het
Clca3b A T 3: 144,533,701 (GRCm39) V558D probably benign Het
Col12a1 T C 9: 79,564,017 (GRCm39) D1736G probably benign Het
Cpne8 C A 15: 90,532,824 (GRCm39) C61F probably damaging Het
Cxcr1 A G 1: 74,231,998 (GRCm39) I8T probably benign Het
D630003M21Rik T G 2: 158,037,327 (GRCm39) probably benign Het
Dcaf17 T A 2: 70,890,763 (GRCm39) D99E probably damaging Het
Fbf1 C T 11: 116,050,880 (GRCm39) probably benign Het
Fgfr2 T A 7: 129,773,354 (GRCm39) H570L possibly damaging Het
Gars1 G A 6: 55,046,472 (GRCm39) probably null Het
Gm10309 A G 17: 86,806,463 (GRCm39) probably benign Het
Gm17333 AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA 16: 77,649,766 (GRCm39) noncoding transcript Het
Gm9892 G A 8: 52,649,860 (GRCm39) Q78* probably null Het
Hivep3 T A 4: 119,989,738 (GRCm39) L2063* probably null Het
Il1rl1 CTTGTTGTTGTTGTTGTTG CTTGTTGTTGTTGTTGTTGTTG 1: 40,481,734 (GRCm39) probably benign Het
Itgb3 T C 11: 104,549,702 (GRCm39) V614A probably benign Het
Lrrc23 A G 6: 124,755,321 (GRCm39) probably benign Het
Lrrc63 A T 14: 75,335,660 (GRCm39) probably benign Het
Mfhas1 C T 8: 36,057,180 (GRCm39) R357* probably null Het
Mink1 C A 11: 70,492,502 (GRCm39) N123K probably damaging Het
Mtmr4 A G 11: 87,501,890 (GRCm39) H591R probably benign Het
Nav3 T C 10: 109,606,058 (GRCm39) T923A probably benign Het
Ncapg A G 5: 45,844,666 (GRCm39) T554A probably damaging Het
Nfe2l1 T C 11: 96,718,514 (GRCm39) Y7C probably damaging Het
Nol8 C T 13: 49,815,923 (GRCm39) A677V possibly damaging Het
Obscn A T 11: 58,942,470 (GRCm39) M4904K probably damaging Het
Obscn G T 11: 58,973,602 (GRCm39) L1910I probably damaging Het
Or8b41 T C 9: 38,055,178 (GRCm39) F244S probably benign Het
Pcdhb15 T A 18: 37,608,619 (GRCm39) V617E probably damaging Het
Pelp1 T C 11: 70,286,530 (GRCm39) T533A possibly damaging Het
Pgrmc1 T C X: 35,865,924 (GRCm39) F160S probably damaging Het
Pink1 G T 4: 138,045,357 (GRCm39) P239Q probably damaging Het
Pramel25 A T 4: 143,520,479 (GRCm39) Y77F probably benign Het
Prr27 A G 5: 87,999,005 (GRCm39) probably benign Het
Rbpms G A 8: 34,296,864 (GRCm39) P138S probably damaging Het
Rcc2 T C 4: 140,445,055 (GRCm39) probably benign Het
Rgs3 T C 4: 62,564,910 (GRCm39) probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Robo1 C T 16: 72,798,839 (GRCm39) T933M probably benign Het
Sinhcaf A G 6: 148,832,163 (GRCm39) probably benign Het
Steap4 T C 5: 8,028,398 (GRCm39) probably benign Het
Tenm3 T C 8: 48,689,560 (GRCm39) Y2009C probably damaging Het
Tnr A C 1: 159,677,905 (GRCm39) T97P possibly damaging Het
Topaz1 T A 9: 122,620,542 (GRCm39) L1320* probably null Het
Topaz1 A G 9: 122,626,727 (GRCm39) M1452V probably benign Het
Trank1 T G 9: 111,219,509 (GRCm39) F2082C probably damaging Het
Trim24 C A 6: 37,935,494 (GRCm39) probably null Het
Tspoap1 T A 11: 87,668,066 (GRCm39) probably benign Het
Ubr4 T C 4: 139,126,926 (GRCm39) L483P probably damaging Het
Vmn2r2 T A 3: 64,033,999 (GRCm39) T508S probably benign Het
Vps18 C T 2: 119,124,386 (GRCm39) R438C probably damaging Het
Zfp366 C A 13: 99,365,474 (GRCm39) R212S probably damaging Het
Zkscan4 T A 13: 21,665,477 (GRCm39) C122S probably damaging Het
Other mutations in Has1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01563:Has1 APN 17 18,063,924 (GRCm39) unclassified probably benign
IGL02551:Has1 APN 17 18,068,560 (GRCm39) missense probably damaging 1.00
R0149:Has1 UTSW 17 18,070,433 (GRCm39) missense probably damaging 1.00
R0496:Has1 UTSW 17 18,064,008 (GRCm39) missense probably benign
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
Predicted Primers PCR Primer
(F):5'- ATACTTGGACACGGTAACCACCGC -3'
(R):5'- CACCACGCATGGATGACCTATGAAG -3'

Sequencing Primer
(F):5'- ACGTCTGCACAGCCTCC -3'
(R):5'- ACCTATGAAGCGGTGGTCTC -3'
Posted On 2013-07-11