Mutagenetix > Incidental Mutation

Incidental Mutation 'R0043:Hyal1'

18557

Institutional Source

Beutler Lab

Gene Symbol

Hyal1

Ensembl Gene

ENSMUSG00000010051

Gene Name

hyaluronoglucosaminidase 1

Synonyms

Hyal-1

MMRRC Submission

038337-MU

Accession Numbers

Essential gene?

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

Stock #

R0043 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

107454149-107458898 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107456519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 152 (L152P)

Ref Sequence

ENSEMBL: ENSMUSP00000122601 (fasta)

Gene Model

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

AlphaFold

Q91ZJ9

Predicted Effect

probably benign
Transcript: ENSMUST00000010195
AA Change: L432P

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000010195
Gene: ENSMUSG00000010051
AA Change: L432P

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 benign
Transcript: ENSMUST00000112387
AA Change: L432P

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000108006
Gene: ENSMUSG00000010051
AA Change: L432P

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 benign
Transcript: ENSMUST00000123005
AA Change: L152P

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000122601
Gene: ENSMUSG00000010051
AA Change: L152P

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 benign
Transcript: ENSMUST00000144392
AA Change: L402P

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000120599
Gene: ENSMUSG00000010051
AA Change: L402P

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: ENSMUST00000162027

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184695

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: 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: 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: 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: 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

Meta Mutation Damage Score

0.1852

Coding Region Coverage

1x: 81.2%
3x: 72.1%
10x: 49.9%
20x: 30.2%

Validation Efficiency

90% (56/62)

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	A	G	2: 93,672,230 (GRCm39)	Y213H	probably benign	Het
Adcy9	A	G	16: 4,106,879 (GRCm39)	L982P	probably benign	Het
Cntnap2	T	A	6: 46,460,917 (GRCm39)	V651E	probably benign	Het
Cstf3	A	T	2: 104,475,430 (GRCm39)		probably benign	Het
Dnah1	T	C	14: 30,996,362 (GRCm39)	D2658G	probably damaging	Het
Dsg4	T	C	18: 20,586,029 (GRCm39)	S240P	probably damaging	Het
Dync2h1	C	T	9: 7,005,574 (GRCm39)	M3765I	probably benign	Het
Fbxw7	T	C	3: 84,879,874 (GRCm39)		probably benign	Het
Fhip2b	A	T	14: 70,826,101 (GRCm39)	S304T	probably benign	Het
Gata4	T	C	14: 63,440,750 (GRCm39)		probably benign	Het
Ifi207	T	A	1: 173,556,678 (GRCm39)	T694S	possibly damaging	Het
Kalrn	C	A	16: 33,875,276 (GRCm39)	G99W	probably damaging	Het
Man1a2	A	T	3: 100,495,196 (GRCm39)	W448R	probably damaging	Het
Mfsd6	A	T	1: 52,747,811 (GRCm39)	Y351*	probably null	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mki67	T	C	7: 135,302,310 (GRCm39)	D908G	probably benign	Het
Nav3	A	G	10: 109,603,379 (GRCm39)	S1057P	possibly damaging	Het
Rasgef1b	T	C	5: 99,391,053 (GRCm39)	Y102C	probably damaging	Het
Sbf1	A	G	15: 89,179,764 (GRCm39)	V1281A	probably benign	Het
Sfmbt1	T	A	14: 30,538,764 (GRCm39)	S794R	probably damaging	Het
Skint3	T	A	4: 112,134,820 (GRCm39)	V331E	probably damaging	Het
Spata31e2	T	A	1: 26,722,883 (GRCm39)	I766F	possibly damaging	Het
Spata6	A	T	4: 111,638,002 (GRCm39)	R277S	probably damaging	Het
Spink12	T	C	18: 44,240,763 (GRCm39)	C50R	probably damaging	Het
Trappc11	A	G	8: 47,958,610 (GRCm39)		probably benign	Het
Ube2u	G	T	4: 100,340,026 (GRCm39)	V66F	possibly damaging	Het
Usp42	A	C	5: 143,700,465 (GRCm39)	V1186G	probably benign	Het
Yme1l1	T	C	2: 23,077,815 (GRCm39)	I419T	probably damaging	Het

Other mutations in Hyal1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01768:Hyal1	APN	9	107,456,338 (GRCm39)	missense	probably damaging	1.00
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
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

2013-03-25