Incidental Mutation 'IGL01563:Has1'
ID90891
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Has1
Ensembl Gene ENSMUSG00000003665
Gene Namehyaluronan synthase 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01563
Quality Score
Status
Chromosome17
Chromosomal Location17843323-17855205 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to T at 17843662 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003762] [ENSMUST00000139969] [ENSMUST00000172097] [ENSMUST00000226899] [ENSMUST00000228490]
Predicted Effect unknown
Transcript: ENSMUST00000003762
AA Change: C572S
SMART Domains Protein: ENSMUSP00000003762
Gene: ENSMUSG00000003665
AA Change: C572S

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: ENSMUST00000226899
Predicted Effect probably benign
Transcript: ENSMUST00000228490
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 A G 6: 85,627,983 E2205G probably damaging Het
Arid2 G A 15: 96,372,397 V1464I probably damaging Het
Axin2 A G 11: 108,923,805 Q173R probably damaging Het
Best1 A G 19: 9,986,735 F454L probably benign Het
CK137956 T G 4: 127,970,635 K67T possibly damaging Het
Col14a1 G A 15: 55,487,941 G1555R unknown Het
Csad G A 15: 102,187,163 S153F probably damaging Het
Cyp4f40 A T 17: 32,673,956 D315V probably damaging Het
Galnt3 G A 2: 66,097,757 A265V probably damaging Het
Gm5901 C A 7: 105,377,515 Y163* probably null Het
Golga4 A G 9: 118,527,006 probably benign Het
Greb1l A G 18: 10,469,399 D138G probably damaging Het
Ighv1-42 A G 12: 114,937,184 S94P probably damaging Het
Katnb1 T A 8: 95,098,159 L569Q probably damaging Het
Nedd1 C T 10: 92,698,169 probably null Het
Olfr1359 A G 13: 21,703,073 E24G probably benign Het
Olfr893 T A 9: 38,209,701 I214N probably damaging Het
Pdcd4 G A 19: 53,929,121 R463H probably benign Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Rps19bp1 A G 15: 80,261,331 M84T probably benign Het
Sass6 A T 3: 116,605,198 D43V probably damaging Het
Senp6 G A 9: 80,122,008 S551N probably benign Het
Sh2d2a A G 3: 87,852,125 E273G probably damaging Het
Slc16a14 T C 1: 84,912,187 probably benign Het
Smcr8 C T 11: 60,783,845 R816C possibly damaging Het
Trappc8 A T 18: 20,837,046 N962K probably benign Het
Trove2 A G 1: 143,761,382 V364A probably benign Het
Trpc6 A G 9: 8,656,603 E677G probably damaging Het
Ubap2 G T 4: 41,195,998 P961T probably damaging Het
Vmn1r23 A G 6: 57,926,076 V239A possibly damaging Het
Vps41 T C 13: 18,782,727 probably benign Het
Vwf A T 6: 125,591,165 D341V probably damaging Het
Zfp618 C T 4: 63,079,896 P45L probably benign Het
Other mutations in Has1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02551:Has1 APN 17 17848298 missense probably damaging 1.00
R0149:Has1 UTSW 17 17850171 missense probably damaging 1.00
R0496:Has1 UTSW 17 17843746 missense probably benign
R0637:Has1 UTSW 17 17843863 missense possibly damaging 0.67
R1051:Has1 UTSW 17 17848279 missense probably damaging 1.00
R1647:Has1 UTSW 17 17849985 missense probably damaging 1.00
R1648:Has1 UTSW 17 17849985 missense probably damaging 1.00
R1768:Has1 UTSW 17 17850300 missense probably benign
R2016:Has1 UTSW 17 17848270 missense probably damaging 1.00
R3810:Has1 UTSW 17 17847560 missense probably damaging 0.98
R4235:Has1 UTSW 17 17850036 missense possibly damaging 0.62
R4467:Has1 UTSW 17 17843995 missense probably benign 0.05
R5475:Has1 UTSW 17 17848321 missense possibly damaging 0.57
R5682:Has1 UTSW 17 17844163 missense possibly damaging 0.58
R6418:Has1 UTSW 17 17849945 missense probably damaging 1.00
R6841:Has1 UTSW 17 17843860 missense probably benign 0.06
R7076:Has1 UTSW 17 17843806 missense probably damaging 1.00
X0028:Has1 UTSW 17 17850453 nonsense probably null
Posted On2013-12-09