Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01768:Hyal1'

153982

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hyal1

Ensembl Gene

ENSMUSG00000010051

Gene Name

hyaluronoglucosaminidase 1

Synonyms

Hyal-1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

IGL01768

Quality Score

Status

Chromosome

Chromosomal Location

107454149-107458898 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 107456338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 342 (L342I)

Ref Sequence

ENSEMBL: ENSMUSP00000120599 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010195] [ENSMUST00000040059] [ENSMUST00000093785] [ENSMUST00000112387] [ENSMUST00000122985] [ENSMUST00000123005] [ENSMUST00000127380] [ENSMUST00000144392] [ENSMUST00000139274] [ENSMUST00000149638] [ENSMUST00000139581] [ENSMUST00000130053] [ENSMUST00000148440]

AlphaFold

Q91ZJ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000010195
AA Change: L372I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000010195
Gene: ENSMUSG00000010051
AA Change: L372I

Domain	Start	End	E-Value	Type
low complexity region	33	46	N/A	INTRINSIC
Pfam:Glyco_hydro_56	53	383	5.7e-134	PFAM
EGF	385	458	1.4e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000040059

SMART Domains

Protein: ENSMUSP00000042667
Gene: ENSMUSG00000036091

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Glyco_hydro_56	25	354	4.8e-122	PFAM
EGF	356	408	2.9e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000093785

SMART Domains

Protein: ENSMUSP00000091300
Gene: ENSMUSG00000079334

Domain	Start	End	E-Value	Type
internal_repeat_1	2	41	4.95e-7	PROSPERO
internal_repeat_1	40	99	4.95e-7	PROSPERO
Pfam:Acetyltransf_1	144	217	2.1e-12	PFAM
Pfam:Acetyltransf_7	147	218	9.5e-9	PFAM
low complexity region	242	253	N/A	INTRINSIC
low complexity region	261	296	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112387
AA Change: L372I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108006
Gene: ENSMUSG00000010051
AA Change: L372I

Domain	Start	End	E-Value	Type
low complexity region	33	46	N/A	INTRINSIC
Pfam:Glyco_hydro_56	50	384	7e-153	PFAM
Blast:EGF	385	454	1e-42	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000122985

SMART Domains

Protein: ENSMUSP00000122807
Gene: ENSMUSG00000079334

Domain	Start	End	E-Value	Type
internal_repeat_1	2	41	2.46e-5	PROSPERO
internal_repeat_1	40	99	2.46e-5	PROSPERO
Pfam:Acetyltransf_1	144	204	3.3e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000123005
AA Change: L92I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122601
Gene: ENSMUSG00000010051
AA Change: L92I

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_56	1	104	6.8e-37	PFAM
EGF	105	178	1.4e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127380

SMART Domains

Protein: ENSMUSP00000116378
Gene: ENSMUSG00000079334

Domain	Start	End	E-Value	Type
internal_repeat_1	2	41	2.46e-5	PROSPERO
internal_repeat_1	40	99	2.46e-5	PROSPERO
Pfam:Acetyltransf_1	144	204	3.3e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000144392
AA Change: L342I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120599
Gene: ENSMUSG00000010051
AA Change: L342I

Domain	Start	End	E-Value	Type
low complexity region	33	46	N/A	INTRINSIC
Pfam:Glyco_hydro_56	50	330	1.8e-128	PFAM
Pfam:Glyco_hydro_56	325	354	2.6e-8	PFAM
EGF	355	428	1.4e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184695

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162027

Predicted Effect

probably benign
Transcript: ENSMUST00000139274

SMART Domains

Protein: ENSMUSP00000138933
Gene: ENSMUSG00000079334

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_1	45	105	7.4e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149638

SMART Domains

Protein: ENSMUSP00000139004
Gene: ENSMUSG00000079334

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_1	45	105	7.4e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139581

SMART Domains

Protein: ENSMUSP00000122321
Gene: ENSMUSG00000079334

Domain	Start	End	E-Value	Type
internal_repeat_1	2	41	2.46e-5	PROSPERO
internal_repeat_1	40	99	2.46e-5	PROSPERO
Pfam:Acetyltransf_1	144	204	3.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130053

SMART Domains

Protein: ENSMUSP00000114490
Gene: ENSMUSG00000079334

Domain	Start	End	E-Value	Type
internal_repeat_1	2	41	2.46e-5	PROSPERO
internal_repeat_1	40	99	2.46e-5	PROSPERO
Pfam:Acetyltransf_1	144	204	3.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148440

SMART Domains

Protein: ENSMUSP00000119499
Gene: ENSMUSG00000036091

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_56	21	355	2.6e-127	PFAM
EGF	356	408	2.9e-2	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a lysosomal hyaluronidase. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. This enzyme is active at an acidic pH and is the major hyaluronidase in plasma. Mutations in this gene are associated with mucopolysaccharidosis type IX, or hyaluronidase deficiency. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display a progressive osteoarthritis associated with bony outgrowths, early loss of articular cartilage proteoglycans and accumulation of hyaluronan (HA) in the cartilage of knee joints, but show no signs of non-skeletal tissue GAG accumulation or increased serum HA levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aifm3	T	C	16: 17,324,141 (GRCm39)	V567A	possibly damaging	Het
Arnt	T	C	3: 95,398,327 (GRCm39)		probably benign	Het
C8b	G	A	4: 104,644,151 (GRCm39)	E273K	probably benign	Het
Capn5	C	T	7: 97,774,480 (GRCm39)	R570H	probably damaging	Het
Cdh9	A	T	15: 16,778,311 (GRCm39)	D42V	possibly damaging	Het
Cdk17	T	C	10: 93,044,123 (GRCm39)	S21P	probably damaging	Het
Cdkl3	T	A	11: 51,916,744 (GRCm39)	F291I	probably damaging	Het
Cfap210	A	T	2: 69,612,471 (GRCm39)		probably benign	Het
Clmn	T	C	12: 104,747,978 (GRCm39)	E523G	probably damaging	Het
Cyp4f14	A	T	17: 33,126,976 (GRCm39)	I318N	probably damaging	Het
Daam1	T	A	12: 72,036,659 (GRCm39)	F1068L	probably benign	Het
Ext2	A	G	2: 93,621,455 (GRCm39)		probably benign	Het
F5	T	A	1: 164,003,914 (GRCm39)	F236L	probably benign	Het
Fat2	A	G	11: 55,153,394 (GRCm39)	V3606A	probably damaging	Het
Gpam	G	A	19: 55,075,952 (GRCm39)	T220M	probably benign	Het
Ilvbl	C	A	10: 78,419,127 (GRCm39)	P459T	possibly damaging	Het
Itga5	A	G	15: 103,259,997 (GRCm39)	Y632H	probably benign	Het
Jkampl	A	T	6: 73,445,899 (GRCm39)	L217M	possibly damaging	Het
Krt73	T	C	15: 101,707,291 (GRCm39)	D299G	probably benign	Het
Lcp1	T	C	14: 75,461,573 (GRCm39)	V522A	probably benign	Het
Lmo3	A	G	6: 138,393,495 (GRCm39)	C53R	probably damaging	Het
Nsun7	T	C	5: 66,436,043 (GRCm39)	V305A	probably benign	Het
Oprm1	T	C	10: 6,779,186 (GRCm39)	S196P	probably damaging	Het
Or2y1e	G	A	11: 49,218,958 (GRCm39)	C240Y	probably damaging	Het
Or4z4	A	T	19: 12,076,403 (GRCm39)	I200N	probably damaging	Het
Or7e168	G	A	9: 19,720,456 (GRCm39)	V281M	possibly damaging	Het
Ovgp1	T	C	3: 105,888,667 (GRCm39)		probably null	Het
Pcdhb20	T	C	18: 37,639,768 (GRCm39)	F765L	possibly damaging	Het
Ppp4r4	T	C	12: 103,547,664 (GRCm39)	V3A	probably benign	Het
Ruvbl1	A	G	6: 88,474,253 (GRCm39)	I419V	probably benign	Het
Scara5	T	A	14: 65,927,224 (GRCm39)	C40*	probably null	Het
Siglec1	T	C	2: 130,916,314 (GRCm39)	Q1212R	probably benign	Het
Slc31a1	G	A	4: 62,306,273 (GRCm39)		probably null	Het
Sparc	G	T	11: 55,296,069 (GRCm39)	N87K	probably damaging	Het
Tcf12	T	C	9: 71,776,278 (GRCm39)		probably null	Het
Timm44	A	T	8: 4,316,860 (GRCm39)	F258I	probably benign	Het
Tm2d2	G	T	8: 25,508,095 (GRCm39)	V80L	possibly damaging	Het
Tpr	A	G	1: 150,320,199 (GRCm39)	D2249G	possibly damaging	Het
Trim50	G	T	5: 135,392,736 (GRCm39)	G217V	possibly damaging	Het
Ugcg	T	C	4: 59,217,216 (GRCm39)		probably null	Het
Vmn2r107	A	T	17: 20,565,868 (GRCm39)	H61L	probably benign	Het
Zfp84	A	G	7: 29,476,091 (GRCm39)	H261R	probably benign	Het
Zswim2	A	T	2: 83,748,301 (GRCm39)	M293K	probably benign	Het

Other mutations in Hyal1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02265:Hyal1	APN	9	107,455,107 (GRCm39)	missense	probably benign	0.03
PIT4377001:Hyal1	UTSW	9	107,456,468 (GRCm39)	missense	probably damaging	1.00
R0043:Hyal1	UTSW	9	107,456,519 (GRCm39)	missense	probably benign	0.15
R0727:Hyal1	UTSW	9	107,455,601 (GRCm39)	missense	possibly damaging	0.71
R1497:Hyal1	UTSW	9	107,455,194 (GRCm39)	splice site	probably null
R1499:Hyal1	UTSW	9	107,455,091 (GRCm39)	missense	probably damaging	1.00
R3903:Hyal1	UTSW	9	107,456,171 (GRCm39)	critical splice donor site	probably null
R4662:Hyal1	UTSW	9	107,456,420 (GRCm39)	missense	probably damaging	1.00
R4977:Hyal1	UTSW	9	107,456,153 (GRCm39)	missense	probably benign	0.19
R5122:Hyal1	UTSW	9	107,455,268 (GRCm39)	missense	probably benign	0.00
R5781:Hyal1	UTSW	9	107,454,866 (GRCm39)	missense	probably damaging	1.00
R6142:Hyal1	UTSW	9	107,456,573 (GRCm39)	missense	probably benign	0.00
R6651:Hyal1	UTSW	9	107,456,570 (GRCm39)	missense	probably damaging	1.00
R6945:Hyal1	UTSW	9	107,456,369 (GRCm39)	missense	probably damaging	0.97
R7335:Hyal1	UTSW	9	107,456,359 (GRCm39)	missense	probably benign	0.27
R7651:Hyal1	UTSW	9	107,455,569 (GRCm39)	missense	probably damaging	1.00
R7810:Hyal1	UTSW	9	107,455,628 (GRCm39)	missense	probably damaging	1.00
R7941:Hyal1	UTSW	9	107,455,299 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04