Mutagenetix > Incidental Mutation

Incidental Mutation 'R6418:Has1'

518100

Institutional Source

Beutler Lab

Gene Symbol

Has1

Ensembl Gene

ENSMUSG00000003665

Gene Name

hyaluronan synthase 1

Synonyms

MMRRC Submission

044560-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6418 (G1)

Quality Score

170.009

Status

Validated

Chromosome

Chromosomal Location

18063588-18075450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18070207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 238 (V238E)

Ref Sequence

ENSEMBL: ENSMUSP00000003762 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003762]

AlphaFold

Q61647

Predicted Effect

probably damaging
Transcript: ENSMUST00000003762
AA Change: V238E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000003762
Gene: ENSMUSG00000003665
AA Change: V238E

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

noncoding transcript
Transcript: ENSMUST00000232410

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.8%

Validation Efficiency

99% (67/68)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930507D05Rik	C	T	10: 62,285,441 (GRCm39)	A55V	unknown	Het
Adra1b	T	G	11: 43,667,028 (GRCm39)	D403A	probably benign	Het
Ankdd1b	A	T	13: 96,597,405 (GRCm39)	L9Q	probably damaging	Het
Ankrd17	A	T	5: 90,426,204 (GRCm39)	S789R	possibly damaging	Het
B3galnt1	A	G	3: 69,482,326 (GRCm39)	S312P	probably damaging	Het
C4bp	C	T	1: 130,583,750 (GRCm39)	V73M	probably damaging	Het
Ccdc121rt2	T	C	5: 112,598,019 (GRCm39)	S189P	probably benign	Het
Cenpe	T	A	3: 134,957,305 (GRCm39)	N1854K	probably damaging	Het
Chrm2	A	C	6: 36,500,674 (GRCm39)	Y177S	probably damaging	Het
Clca4b	C	T	3: 144,633,996 (GRCm39)	V140I	probably benign	Het
Csad	A	G	15: 102,087,958 (GRCm39)	S322P	probably damaging	Het
Depdc1b	T	G	13: 108,493,956 (GRCm39)	Y115D	probably damaging	Het
Dnah17	T	C	11: 118,020,023 (GRCm39)	Y8C	probably damaging	Het
Dsg3	T	C	18: 20,656,817 (GRCm39)		probably null	Het
Elf5	A	G	2: 103,269,697 (GRCm39)	T93A	possibly damaging	Het
Eogt	C	T	6: 97,122,353 (GRCm39)	D27N	possibly damaging	Het
Fam118b	T	C	9: 35,146,633 (GRCm39)	D78G	probably damaging	Het
Fhip2a	T	A	19: 57,370,166 (GRCm39)	M470K	probably benign	Het
Frem3	A	G	8: 81,337,781 (GRCm39)	T25A	probably benign	Het
Gab1	C	A	8: 81,515,226 (GRCm39)	R364L	possibly damaging	Het
Golm1	T	C	13: 59,813,375 (GRCm39)	Y32C	probably damaging	Het
Hkdc1	T	C	10: 62,219,583 (GRCm39)	R907G	possibly damaging	Het
Igkv4-61	C	A	6: 69,394,138 (GRCm39)	A31S	possibly damaging	Het
Krtap24-1	C	T	16: 88,408,761 (GRCm39)	V122I	probably damaging	Het
Lrrc10	T	G	10: 116,881,616 (GRCm39)	L97V	probably damaging	Het
Map3k20	T	A	2: 72,232,457 (GRCm39)	M371K	probably benign	Het
Mis18bp1	A	T	12: 65,205,317 (GRCm39)	M2K	possibly damaging	Het
Mob3b	T	A	4: 34,954,049 (GRCm39)		probably null	Het
Muc4	A	G	16: 32,570,607 (GRCm39)	T556A	possibly damaging	Het
Muc6	A	C	7: 141,224,032 (GRCm39)		probably benign	Het
Ncapg	A	T	5: 45,839,158 (GRCm39)	L519F	probably damaging	Het
Nfix	A	G	8: 85,453,778 (GRCm39)	S265P	probably benign	Het
Or13p10	T	A	4: 118,522,808 (GRCm39)	F31L	possibly damaging	Het
Or4c121	T	C	2: 89,023,823 (GRCm39)	K185R	probably damaging	Het
Or4k49	T	C	2: 111,494,817 (GRCm39)	V82A	probably benign	Het
Or52e5	T	C	7: 104,719,514 (GRCm39)	L280P	probably damaging	Het
Or8g35	C	A	9: 39,381,112 (GRCm39)	K303N	probably benign	Het
Osgin2	T	C	4: 16,006,410 (GRCm39)	T95A	probably benign	Het
Parp4	T	C	14: 56,858,108 (GRCm39)		probably null	Het
Pcdh7	G	A	5: 57,879,046 (GRCm39)	G867D	probably damaging	Het
Pcdhb22	T	C	18: 37,652,959 (GRCm39)	S476P	possibly damaging	Het
Phldb1	A	G	9: 44,623,197 (GRCm39)	I619T	probably damaging	Het
Ppp1r13l	C	T	7: 19,105,256 (GRCm39)	R343C	probably damaging	Het
Rab2b	T	A	14: 52,506,164 (GRCm39)		probably benign	Het
Rims2	A	T	15: 39,373,092 (GRCm39)	E972V	probably damaging	Het
Slc26a9	G	T	1: 131,686,228 (GRCm39)	C337F	probably benign	Het
Spty2d1	A	G	7: 46,647,751 (GRCm39)	S393P	probably damaging	Het
Stkld1	A	T	2: 26,831,093 (GRCm39)	N90I	possibly damaging	Het
Svep1	T	A	4: 58,053,126 (GRCm39)	R3406S	probably benign	Het
Svil	A	T	18: 5,040,171 (GRCm39)	D48V	probably benign	Het
Thsd7a	T	A	6: 12,555,081 (GRCm39)	K268*	probably null	Het
Tmc6	A	G	11: 117,661,326 (GRCm39)	L618P	probably damaging	Het
Tmem231	G	A	8: 112,653,524 (GRCm39)		probably benign	Het
Ube2q2l	C	A	6: 136,378,099 (GRCm39)	D244Y	probably damaging	Het
Ubn1	A	G	16: 4,899,791 (GRCm39)	H1101R	probably benign	Het
Upf2	G	A	2: 6,032,150 (GRCm39)	V899I	unknown	Het
Ush2a	A	T	1: 188,360,763 (GRCm39)	N2161I	probably damaging	Het
Usp25	A	T	16: 76,859,330 (GRCm39)	D276V	probably damaging	Het
Vmn2r68	T	A	7: 84,882,915 (GRCm39)	H279L	probably benign	Het
Vps13d	G	A	4: 144,818,850 (GRCm39)	R3019W	probably damaging	Het
Vsig10	A	T	5: 117,486,361 (GRCm39)	E423D	probably benign	Het
Wdfy2	T	A	14: 63,162,582 (GRCm39)	F95I	probably benign	Het
Xrn1	A	G	9: 95,915,763 (GRCm39)		probably null	Het
Zdhhc13	A	G	7: 48,461,149 (GRCm39)	T362A	possibly damaging	Het
Zfp984	C	T	4: 147,845,703 (GRCm39)	S2N	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
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'- GTCGGATAAAAGTTCAAACCAGACTG -3'
(R):5'- CACTTATGTGTGGGATGGCAAC -3'

Sequencing Primer
(F):5'- AGACTGAATTTCTGATCCTTGCG -3'
(R):5'- ACTACCATCAGCCCTGGG -3'

Posted On

2018-05-24