Mutagenetix > Incidental Mutation

Incidental Mutation 'R7076:Has1'

549247

Institutional Source

Beutler Lab

Gene Symbol

Has1

Ensembl Gene

ENSMUSG00000003665

Gene Name

hyaluronan synthase 1

Synonyms

MMRRC Submission

045171-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7076 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18063588-18075450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 18064068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 524 (R524C)

Ref Sequence

ENSEMBL: ENSMUSP00000003762 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003762] [ENSMUST00000139969] [ENSMUST00000172097] [ENSMUST00000226899] [ENSMUST00000228490]

AlphaFold

Q61647

Predicted Effect

probably damaging
Transcript: ENSMUST00000003762
AA Change: R524C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000003762
Gene: ENSMUSG00000003665
AA Change: R524C

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000139969

SMART Domains

Protein: ENSMUSP00000119658
Gene: ENSMUSG00000080316

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Blast:IG	27	78	2e-32	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000172097

SMART Domains

Protein: ENSMUSP00000128732
Gene: ENSMUSG00000080316

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
IG	171	260	2.08e-1	SMART
transmembrane domain	310	332	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000226899

Predicted Effect

probably benign
Transcript: ENSMUST00000228490

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (60/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	A	G	8: 56,324,694 (GRCm39)	C587R	probably damaging	Het
Adgrg7	T	C	16: 56,562,769 (GRCm39)	T523A	probably damaging	Het
Arrdc3	A	T	13: 81,038,815 (GRCm39)	K259M	probably damaging	Het
Becn1	A	T	11: 101,186,150 (GRCm39)	N151K	probably benign	Het
Cars2	C	T	8: 11,579,649 (GRCm39)	E270K	probably damaging	Het
Ccp110	C	A	7: 118,331,628 (GRCm39)	P943Q	probably damaging	Het
Ccser2	A	G	14: 36,661,786 (GRCm39)	I466T	probably benign	Het
Cd164	A	G	10: 41,399,193 (GRCm39)	E94G	probably benign	Het
Cdon	C	T	9: 35,415,446 (GRCm39)	T1228I	probably benign	Het
Cubn	C	A	2: 13,311,091 (GRCm39)	V3145L	probably benign	Het
Cubn	T	A	2: 13,311,092 (GRCm39)	K3144N	probably benign	Het
Dchs1	A	G	7: 105,411,078 (GRCm39)	V1649A	probably benign	Het
Dgka	A	T	10: 128,569,452 (GRCm39)	D153E	probably damaging	Het
Dip2b	A	G	15: 100,055,853 (GRCm39)		probably null	Het
Dnajc21	T	C	15: 10,449,717 (GRCm39)	T435A	probably benign	Het
F830016B08Rik	A	T	18: 60,433,543 (GRCm39)	I209F	probably damaging	Het
Ghdc	C	A	11: 100,660,540 (GRCm39)	S111I	possibly damaging	Het
Gm19965	T	C	1: 116,749,005 (GRCm39)	C229R		Het
Gpm6a	C	T	8: 55,490,486 (GRCm39)	T54I	probably damaging	Het
Gpr171	G	T	3: 59,005,577 (GRCm39)	A66E	probably damaging	Het
Grm7	A	G	6: 111,335,113 (GRCm39)	D508G	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ighv3-8	A	T	12: 114,286,402 (GRCm39)	L7Q	probably damaging	Het
Ints10	A	T	8: 69,249,403 (GRCm39)	R78*	probably null	Het
Itpr1	A	G	6: 108,365,257 (GRCm39)	I903V	probably benign	Het
Lrp1	A	G	10: 127,386,052 (GRCm39)		probably null	Het
Mki67	A	G	7: 135,307,358 (GRCm39)	V132A	probably damaging	Het
Myh4	A	G	11: 67,143,999 (GRCm39)	E1123G	possibly damaging	Het
Neurog3	A	G	10: 61,969,359 (GRCm39)	T40A	probably benign	Het
Nipsnap3b	T	A	4: 53,021,095 (GRCm39)		probably null	Het
Nr4a3	G	A	4: 48,055,957 (GRCm39)	V328I	probably damaging	Het
Or11g27	T	A	14: 50,771,278 (GRCm39)	Y136*	probably null	Het
Or2d36	T	C	7: 106,747,236 (GRCm39)	F238L	probably damaging	Het
Or52u1	A	T	7: 104,237,430 (GRCm39)	S140C	probably damaging	Het
Or5af2	G	A	11: 58,707,990 (GRCm39)	R52Q	probably benign	Het
Or5b124	G	T	19: 13,611,244 (GRCm39)	M256I	possibly damaging	Het
Or5p63	A	T	7: 107,811,205 (GRCm39)	V177D	probably damaging	Het
Osbpl5	A	G	7: 143,263,577 (GRCm39)	L102P	probably benign	Het
Ppl	C	T	16: 4,917,983 (GRCm39)	R503Q	probably damaging	Het
Ppp2r2d	T	C	7: 138,478,326 (GRCm39)	M321T	possibly damaging	Het
Prex1	T	C	2: 166,475,302 (GRCm39)	Y197C	probably damaging	Het
Prss32	A	G	17: 24,072,895 (GRCm39)	D42G	possibly damaging	Het
Ralgapa1	T	C	12: 55,768,361 (GRCm39)	E1210G	possibly damaging	Het
Sdr16c5	A	G	4: 4,006,591 (GRCm39)	C234R	probably damaging	Het
Slc23a4	A	G	6: 34,933,819 (GRCm39)	S95P	probably damaging	Het
Srp14	T	C	2: 118,309,871 (GRCm39)	T29A	probably damaging	Het
Tet2	T	A	3: 133,172,784 (GRCm39)	H1826L	possibly damaging	Het
Tfr2	A	T	5: 137,581,836 (GRCm39)	Y641F	probably damaging	Het
Tmco5b	A	G	2: 113,117,766 (GRCm39)	N27D	probably damaging	Het
Tvp23a	T	C	16: 10,246,599 (GRCm39)	D62G	probably benign	Het
Usp12	A	G	5: 146,674,562 (GRCm39)	F347S	possibly damaging	Het
Zfp407	A	T	18: 84,576,601 (GRCm39)	L1504Q	probably damaging	Het
Zfp524	A	G	7: 5,020,895 (GRCm39)	D141G	possibly damaging	Het
Zfp68	A	G	5: 138,605,201 (GRCm39)	I374T	possibly damaging	Het
Zfp758	C	T	17: 22,594,137 (GRCm39)	H208Y	probably benign	Het
Zfp804b	T	C	5: 6,819,751 (GRCm39)	H1104R	probably benign	Het
Znrf2	T	A	6: 54,819,680 (GRCm39)	*75K	probably null	Het
Zzef1	T	C	11: 72,790,385 (GRCm39)	V2113A	probably benign	Het

Other mutations in Has1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- CCTCCTTTAAGAGCCCTCAG -3'
(R):5'- GTGCTGCTGTCACTCTATGC -3'

Sequencing Primer
(F):5'- TGTCCAGACTCATACTTGGACACG -3'
(R):5'- TATGCACCACTCTACATGTGCGG -3'

Posted On

2019-05-15