Mutagenetix > Incidental Mutation

Incidental Mutation 'R6841:Has1'

538057

Institutional Source

Beutler Lab

Gene Symbol

Has1

Ensembl Gene

ENSMUSG00000003665

Gene Name

hyaluronan synthase 1

Synonyms

MMRRC Submission

044947-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6841 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18063588-18075450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 18064122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 506 (V506I)

Ref Sequence

ENSEMBL: ENSMUSP00000003762 (fasta)

Gene Model

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

AlphaFold

Q61647

Predicted Effect

probably benign
Transcript: ENSMUST00000003762
AA Change: V506I

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000003762
Gene: ENSMUSG00000003665
AA Change: V506I

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: 99.4%
20x: 98.4%

Validation Efficiency

99% (71/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730071L15Rik	G	A	11: 6,150,439 (GRCm39)	W137*	probably null	Het
Acads	G	A	5: 115,250,417 (GRCm39)	T169I	probably benign	Het
Adgrg7	T	A	16: 56,570,787 (GRCm39)	N414Y	probably damaging	Het
Ankrd35	T	A	3: 96,577,742 (GRCm39)	S6T	probably damaging	Het
Armc3	A	G	2: 19,206,630 (GRCm39)		probably null	Het
Atp9a	C	A	2: 168,496,140 (GRCm39)	V555F	possibly damaging	Het
Bltp1	A	G	3: 37,075,630 (GRCm39)	Y3610C	probably damaging	Het
Cars2	C	T	8: 11,566,198 (GRCm39)	V443I	probably benign	Het
Cblc	A	G	7: 19,526,821 (GRCm39)	L137P	probably damaging	Het
Ccdc198	T	C	14: 49,481,270 (GRCm39)		probably null	Het
Cdk5r1	T	A	11: 80,369,021 (GRCm39)	C229*	probably null	Het
Cep85	C	G	4: 133,883,167 (GRCm39)	A241P	probably benign	Het
Cfap54	T	C	10: 92,710,877 (GRCm39)	Y2728C	unknown	Het
Ckap5	T	A	2: 91,400,597 (GRCm39)	W650R	probably damaging	Het
Cnot11	C	T	1: 39,579,148 (GRCm39)	Q12*	probably null	Het
Commd6	A	T	14: 101,874,534 (GRCm39)	D19E	probably damaging	Het
Crygc	C	T	1: 65,112,361 (GRCm39)	G71D	possibly damaging	Het
Cstf3	A	G	2: 104,486,076 (GRCm39)	K439E	probably benign	Het
Cyp11b2	G	T	15: 74,727,340 (GRCm39)	H114N	probably benign	Het
Cyp2d40	T	C	15: 82,645,687 (GRCm39)	D106G	probably benign	Het
Dhx8	T	A	11: 101,655,618 (GRCm39)	V1117E	probably damaging	Het
Duoxa1	G	T	2: 122,134,462 (GRCm39)	L219I	probably damaging	Het
Dynap	A	T	18: 70,374,253 (GRCm39)	I91N	probably damaging	Het
Elfn1	G	T	5: 139,958,900 (GRCm39)	G635W	probably damaging	Het
Fan1	A	T	7: 64,014,377 (GRCm39)	I618N	probably damaging	Het
Fras1	A	G	5: 96,876,410 (GRCm39)	D2381G	probably damaging	Het
Fxyd6	T	A	9: 45,302,851 (GRCm39)		probably null	Het
Gpr137b	A	T	13: 13,538,094 (GRCm39)	W286R	probably damaging	Het
Gpsm3	A	T	17: 34,809,536 (GRCm39)		probably null	Het
Hoxd10	T	A	2: 74,522,616 (GRCm39)	V98D	probably benign	Het
Htr2b	T	A	1: 86,027,615 (GRCm39)	D297V	probably benign	Het
Hydin	G	C	8: 111,265,007 (GRCm39)	R2730P	probably benign	Het
I830077J02Rik	T	C	3: 105,833,830 (GRCm39)	N109D	possibly damaging	Het
Igf2r	A	T	17: 12,922,263 (GRCm39)	F1284I	probably damaging	Het
Ildr2	C	G	1: 166,098,144 (GRCm39)	D167E	probably damaging	Het
Ipo9	T	C	1: 135,314,046 (GRCm39)	D949G	probably benign	Het
Itga10	T	C	3: 96,564,030 (GRCm39)	F895L	probably damaging	Het
Itpr1	A	G	6: 108,365,153 (GRCm39)	N27S	probably damaging	Het
Klra4	C	A	6: 130,042,162 (GRCm39)	R35L	probably benign	Het
Map3k2	T	A	18: 32,359,682 (GRCm39)	C512S	probably benign	Het
Mertk	A	G	2: 128,601,150 (GRCm39)		probably null	Het
Mgat2	T	A	12: 69,232,407 (GRCm39)	I327N	probably damaging	Het
Mogat1	T	C	1: 78,499,496 (GRCm39)	I59T	probably damaging	Het
Mrpl2	A	T	17: 46,958,382 (GRCm39)	M55L	probably benign	Het
Nxpe3	T	C	16: 55,664,685 (GRCm39)	M512V	possibly damaging	Het
Pcdh15	T	C	10: 74,286,052 (GRCm39)	L769P	probably damaging	Het
Pcmtd2	T	G	2: 181,486,231 (GRCm39)	V117G	probably damaging	Het
Pdia2	A	T	17: 26,415,578 (GRCm39)		probably null	Het
Repin1	A	T	6: 48,574,859 (GRCm39)	Q593L	possibly damaging	Het
Rnf213	C	T	11: 119,340,692 (GRCm39)	T3517I	probably benign	Het
Rxfp2	A	T	5: 149,942,210 (GRCm39)		probably benign	Het
Skint8	T	C	4: 111,785,968 (GRCm39)	L138P	probably damaging	Het
Slc35a3	T	A	3: 116,506,417 (GRCm39)	Q5L	probably null	Het
Stab2	T	A	10: 86,778,054 (GRCm39)	N758I	probably damaging	Het
Sulf1	T	A	1: 12,908,658 (GRCm39)	I557N	probably damaging	Het
Tbc1d8	T	C	1: 39,428,455 (GRCm39)	I497V	possibly damaging	Het
Ticam2	A	C	18: 46,693,998 (GRCm39)	S30A	probably benign	Het
Timp3	T	C	10: 86,181,638 (GRCm39)	S170P	possibly damaging	Het
Top1mt	C	T	15: 75,547,973 (GRCm39)	E38K	probably benign	Het
Tpp1	G	A	7: 105,398,171 (GRCm39)	L331F	probably damaging	Het
Trpm7	A	T	2: 126,654,941 (GRCm39)	D1332E	probably benign	Het
Ttc23	A	G	7: 67,319,476 (GRCm39)	E112G	possibly damaging	Het
Ttn	T	C	2: 76,715,296 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,726,934 (GRCm39)		probably benign	Het
Ubr3	T	A	2: 69,850,969 (GRCm39)	C1796S	probably damaging	Het
Ugt2b34	C	T	5: 87,040,675 (GRCm39)	V416I	probably benign	Het
Uqcrb	A	G	13: 67,048,827 (GRCm39)		probably benign	Het
Vps26b	A	G	9: 26,921,760 (GRCm39)	L255P	probably benign	Het
Wdr59	A	G	8: 112,223,512 (GRCm39)	V154A	probably damaging	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
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'- GTTAACATTACCACCCAGTAGGC -3'
(R):5'- TGAGGCTCTTCTATGCAGGG -3'

Sequencing Primer
(F):5'- ACCCAGTAGGCCACATAGG -3'
(R):5'- CGTAGCACTGGCAAAGGC -3'

Posted On

2018-10-18