Incidental Mutation 'R0149:Has1'
ID 22756
Institutional Source Beutler Lab
Gene Symbol Has1
Ensembl Gene ENSMUSG00000003665
Gene Name hyaluronan synthase 1
Synonyms
MMRRC Submission 038433-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0149 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 17
Chromosomal Location 18063588-18075450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18070433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 163 (T163A)
Ref Sequence ENSEMBL: ENSMUSP00000003762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003762]
AlphaFold Q61647
Predicted Effect probably damaging
Transcript: ENSMUST00000003762
AA Change: T163A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000003762
Gene: ENSMUSG00000003665
AA Change: T163A

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: ENSMUST00000232410
Meta Mutation Damage Score 0.0896 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 97% (84/87)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A230072I06Rik A C 8: 12,330,000 (GRCm39) S152R unknown Het
Acsbg2 A G 17: 57,160,924 (GRCm39) probably benign Het
Adam6a G T 12: 113,509,369 (GRCm39) V581F probably damaging Het
Adgrl3 A T 5: 81,908,544 (GRCm39) I1165F probably damaging Het
Aldh1l1 A G 6: 90,566,396 (GRCm39) K656E possibly damaging Het
Ankhd1 T C 18: 36,780,267 (GRCm39) I1773T probably damaging Het
Api5 A T 2: 94,253,842 (GRCm39) L287* probably null Het
Ascc3 A T 10: 50,484,089 (GRCm39) N55I probably benign Het
Cav1 C A 6: 17,339,352 (GRCm39) R146S possibly damaging Het
Cdhr2 A T 13: 54,881,820 (GRCm39) I1118F probably damaging Het
Cemip A G 7: 83,613,218 (GRCm39) I660T probably benign Het
Clk1 T A 1: 58,453,760 (GRCm39) N305Y probably damaging Het
Cux1 T A 5: 136,308,351 (GRCm39) I1263F probably damaging Het
Cyp2d26 A G 15: 82,676,968 (GRCm39) L152P probably damaging Het
Dmtf1 A G 5: 9,182,571 (GRCm39) S188P probably damaging Het
Dock2 A G 11: 34,388,327 (GRCm39) L202P probably damaging Het
Dscaml1 T G 9: 45,653,978 (GRCm39) Y1418* probably null Het
Efemp2 A T 19: 5,527,988 (GRCm39) H107L probably damaging Het
Eng T C 2: 32,562,397 (GRCm39) probably null Het
Erc1 A T 6: 119,801,791 (GRCm39) S75R probably damaging Het
Fgl2 A T 5: 21,580,783 (GRCm39) D375V probably damaging Het
Fpr-rs6 T C 17: 20,402,475 (GRCm39) I295M probably benign Het
Fsip2 T C 2: 82,805,849 (GRCm39) S723P possibly damaging Het
Gdpd5 A G 7: 99,107,997 (GRCm39) I530V possibly damaging Het
Gm15217 T A 14: 46,617,841 (GRCm39) probably benign Het
Gm4922 T C 10: 18,659,289 (GRCm39) T478A probably benign Het
Gmcl1 A T 6: 86,709,891 (GRCm39) probably null Het
Hmcn1 A T 1: 150,553,075 (GRCm39) N2538K probably benign Het
Itga2 A G 13: 114,973,115 (GRCm39) probably benign Het
Kcnip1 A T 11: 33,793,177 (GRCm39) M5K probably benign Het
Kcnk4 T C 19: 6,903,562 (GRCm39) E329G probably benign Het
Kcnt1 T C 2: 25,788,276 (GRCm39) probably benign Het
Klkb1 A G 8: 45,729,100 (GRCm39) C375R probably damaging Het
Loxl2 C A 14: 69,930,527 (GRCm39) H764N probably benign Het
Lrrc55 A T 2: 85,026,589 (GRCm39) M145K probably damaging Het
Lrrtm2 A G 18: 35,345,985 (GRCm39) I439T probably benign Het
Magi1 A T 6: 93,724,226 (GRCm39) I263N probably damaging Het
Map4 C T 9: 109,896,692 (GRCm39) P641L probably damaging Het
Mars1 A T 10: 127,135,903 (GRCm39) N558K probably damaging Het
Mfap2 A G 4: 140,742,294 (GRCm39) D98G probably damaging Het
Mgat5b A G 11: 116,875,965 (GRCm39) probably benign Het
Mki67 A T 7: 135,300,153 (GRCm39) V1627D probably benign Het
Mtnr1a A T 8: 45,522,352 (GRCm39) I36F probably benign Het
Myh15 A T 16: 48,934,368 (GRCm39) N645I probably benign Het
Myo7b T A 18: 32,147,262 (GRCm39) I94F probably damaging Het
Nefh A T 11: 4,890,799 (GRCm39) S607T probably benign Het
Ngf T A 3: 102,427,762 (GRCm39) H174Q probably benign Het
Noa1 G A 5: 77,445,020 (GRCm39) Q600* probably null Het
Nr2f2 A G 7: 70,007,810 (GRCm39) V71A possibly damaging Het
Oas2 A T 5: 120,876,466 (GRCm39) F492L probably damaging Het
Or2y17 A T 11: 49,231,641 (GRCm39) Y94F probably benign Het
Or8g21 T A 9: 38,905,880 (GRCm39) M284L probably benign Het
Osmr A G 15: 6,871,432 (GRCm39) probably null Het
P4ha1 A G 10: 59,184,221 (GRCm39) T228A probably damaging Het
Pip5kl1 T C 2: 32,468,966 (GRCm39) V195A possibly damaging Het
Plagl2 A T 2: 153,073,523 (GRCm39) D459E probably benign Het
Plxna1 T C 6: 89,297,595 (GRCm39) E1863G probably null Het
Prdm10 T G 9: 31,227,455 (GRCm39) probably benign Het
Prr14l A C 5: 32,950,985 (GRCm39) L1936R probably damaging Het
Rgs1 T C 1: 144,124,825 (GRCm39) probably benign Het
Rgsl1 A G 1: 153,669,510 (GRCm39) F292S probably damaging Het
Rhobtb2 T C 14: 70,033,357 (GRCm39) T538A probably benign Het
Rictor A G 15: 6,813,588 (GRCm39) N1025D possibly damaging Het
Rsph10b T A 5: 143,875,727 (GRCm39) probably benign Het
Rwdd4a A G 8: 47,997,255 (GRCm39) D158G probably null Het
Sdk1 T C 5: 141,842,809 (GRCm39) probably benign Het
Serpina3n A C 12: 104,377,635 (GRCm39) K296T probably benign Het
Slco1a8 T C 6: 141,938,203 (GRCm39) T239A probably benign Het
Snw1 A G 12: 87,508,687 (GRCm39) V124A possibly damaging Het
Tas2r140 T G 6: 40,468,232 (GRCm39) F21V probably benign Het
Tmc6 G A 11: 117,660,274 (GRCm39) L655F probably damaging Het
Tmem260 A T 14: 48,689,504 (GRCm39) T108S possibly damaging Het
Trim2 T C 3: 84,098,083 (GRCm39) Y406C probably damaging Het
Tsc1 T C 2: 28,560,913 (GRCm39) I257T probably damaging Het
Ttn T C 2: 76,673,746 (GRCm39) probably benign Het
Unc80 T A 1: 66,560,760 (GRCm39) N829K possibly damaging Het
Vmn1r235 A C 17: 21,482,257 (GRCm39) D194A probably damaging Het
Vmn2r100 A T 17: 19,741,509 (GRCm39) probably null Het
Ylpm1 G T 12: 85,075,612 (GRCm39) R321L probably damaging Het
Zan T C 5: 137,395,028 (GRCm39) T4381A unknown Het
Zfp457 A G 13: 67,440,710 (GRCm39) F622L probably damaging Het
Zfy1 T C Y: 726,121 (GRCm39) H548R possibly damaging Het
Zmym4 A T 4: 126,804,938 (GRCm39) S441T probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TACATGACCTCACGTTTGCCGC -3'
(R):5'- ATCGCTATGGACTCCTGGCCTTTG -3'

Sequencing Primer
(F):5'- TGCGTGTTCTCACCAGC -3'
(R):5'- TAGTGGCACAGAGCCTCTTC -3'
Posted On 2013-04-16