Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00334:Hyal2'

6140

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hyal2

Ensembl Gene

ENSMUSG00000010047

Gene Name

hyaluronoglucosaminidase 2

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00334

Quality Score

Status

Chromosome

Chromosomal Location

107445144-107449978 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107447604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 86 (Y86H)

Ref Sequence

ENSEMBL: ENSMUSP00000141280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010191] [ENSMUST00000010198] [ENSMUST00000192887] [ENSMUST00000193747] [ENSMUST00000194794] [ENSMUST00000195681] [ENSMUST00000195752]

AlphaFold

O35632

Predicted Effect

probably damaging
Transcript: ENSMUST00000010191
AA Change: Y86H

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

SMART Domains

Protein: ENSMUSP00000010191
Gene: ENSMUSG00000010047
AA Change: Y86H

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Glyco_hydro_56	29	362	9.6e-140	PFAM
EGF	364	439	4.26e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000010198

SMART Domains

Protein: ENSMUSP00000010198
Gene: ENSMUSG00000010054

Domain	Start	End	E-Value	Type
Pfam:TUSC2	1	109	9.2e-47	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192051

Predicted Effect

probably benign
Transcript: ENSMUST00000192887

SMART Domains

Protein: ENSMUSP00000142207
Gene: ENSMUSG00000010047

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Glyco_hydro_56	25	82	5.6e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000193747
AA Change: Y86H

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

SMART Domains

Protein: ENSMUSP00000142141
Gene: ENSMUSG00000010047
AA Change: Y86H

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Glyco_hydro_56	25	342	5.4e-133	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000194794
AA Change: Y86H

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

SMART Domains

Protein: ENSMUSP00000142019
Gene: ENSMUSG00000010047
AA Change: Y86H

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Glyco_hydro_56	25	154	8.8e-50	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000195681
AA Change: Y86H

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

SMART Domains

Protein: ENSMUSP00000141820
Gene: ENSMUSG00000010047
AA Change: Y86H

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Glyco_hydro_56	25	325	3.8e-118	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000195752
AA Change: Y86H

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

SMART Domains

Protein: ENSMUSP00000141280
Gene: ENSMUSG00000010047
AA Change: Y86H

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Glyco_hydro_56	25	363	1.1e-144	PFAM
EGF	364	439	4.26e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195667

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194628

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 weak acid-active hyaluronidase. The encoded protein is similar in structure to other more active hyaluronidases. Hyaluronidases degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan and fragments of hyaluronan are thought to be involved in cell proliferation, migration and differentiation. Although it was previously thought to be a lysosomal hyaluronidase that is active at a pH below 4, the encoded protein is likely a GPI-anchored cell surface protein. This hyaluronidase serves as a receptor for the oncogenic virus Jaagsiekte sheep retrovirus. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. This gene encodes two alternatively spliced transcript variants which differ only in the 5' UTR.[provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality, poor survival, craniofacial defects, and mild anemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arsb	T	G	13: 94,075,787 (GRCm39)	H423Q	probably benign	Het
Bltp2	T	A	11: 78,160,400 (GRCm39)	L620I	possibly damaging	Het
Ces1f	T	C	8: 93,994,620 (GRCm39)	T264A	probably benign	Het
Clcn6	C	A	4: 148,102,359 (GRCm39)		probably null	Het
Cyb5r3	C	A	15: 83,044,605 (GRCm39)	A138S	probably benign	Het
Cyp3a57	A	T	5: 145,307,834 (GRCm39)	N197Y	probably damaging	Het
Dctn2	A	G	10: 127,113,559 (GRCm39)		probably benign	Het
Dnmt1	C	T	9: 20,821,566 (GRCm39)	A1197T	possibly damaging	Het
Dock2	T	C	11: 34,595,488 (GRCm39)	D436G	probably damaging	Het
Drd4	A	G	7: 140,872,096 (GRCm39)	N49S	probably damaging	Het
Dst	T	A	1: 34,205,373 (GRCm39)	V521D	probably damaging	Het
Eif5b	T	C	1: 38,080,800 (GRCm39)	S714P	probably damaging	Het
Glis3	A	G	19: 28,517,664 (GRCm39)	I178T	probably damaging	Het
Gm11565	T	A	11: 99,806,021 (GRCm39)	C138S	possibly damaging	Het
H1f8	T	A	6: 115,924,588 (GRCm39)		probably benign	Het
Hdx	T	A	X: 110,492,578 (GRCm39)	I623F	probably benign	Het
Huwe1	T	G	X: 150,668,623 (GRCm39)	L843V	probably damaging	Het
Irf7	A	T	7: 140,844,553 (GRCm39)	S157T	probably benign	Het
Jmjd4	T	A	11: 59,346,140 (GRCm39)	M331K	probably damaging	Het
Kdm2a	A	T	19: 4,406,926 (GRCm39)	D112E	possibly damaging	Het
Mamdc2	A	C	19: 23,356,138 (GRCm39)	Y103*	probably null	Het
Map2k3	T	C	11: 60,834,041 (GRCm39)	V77A	possibly damaging	Het
Mideas	G	A	12: 84,219,629 (GRCm39)	R442*	probably null	Het
Mprip	T	A	11: 59,639,417 (GRCm39)	D403E	probably benign	Het
Mutyh	T	A	4: 116,676,516 (GRCm39)	V496D	possibly damaging	Het
Nbeal1	T	C	1: 60,321,042 (GRCm39)	V2051A	probably damaging	Het
Nbeal1	T	C	1: 60,367,262 (GRCm39)	L2575P	probably damaging	Het
Or10j5	T	G	1: 172,785,158 (GRCm39)	S265R	possibly damaging	Het
Or51a6	T	C	7: 102,604,311 (GRCm39)	K173E	probably benign	Het
Pcdhb6	T	A	18: 37,467,277 (GRCm39)	I66N	probably damaging	Het
Pck2	T	C	14: 55,780,098 (GRCm39)	Y89H	probably benign	Het
Poglut3	T	A	9: 53,309,330 (GRCm39)		probably benign	Het
Poglut3	C	A	9: 53,309,328 (GRCm39)		probably benign	Het
Polr3e	C	T	7: 120,540,034 (GRCm39)	Q594*	probably null	Het
Ptpro	T	G	6: 137,371,907 (GRCm39)		probably null	Het
Rfx4	A	G	10: 84,615,917 (GRCm39)	K28E	possibly damaging	Het
Shox2	T	C	3: 66,888,774 (GRCm39)	E39G	possibly damaging	Het
Slc22a16	A	T	10: 40,449,930 (GRCm39)	D122V	probably benign	Het
Smr3a	A	C	5: 88,155,919 (GRCm39)		probably benign	Het
Spmip8	G	A	8: 96,039,676 (GRCm39)	R31H	probably damaging	Het
Taf4	G	T	2: 179,618,418 (GRCm39)	L8M	unknown	Het
Tbkbp1	T	A	11: 97,028,474 (GRCm39)		probably benign	Het
Tmem120b	G	T	5: 123,253,230 (GRCm39)	E210D	probably damaging	Het
Tmem120b	A	T	5: 123,253,229 (GRCm39)		probably null	Het
Trim21	C	T	7: 102,208,805 (GRCm39)	V305M	probably damaging	Het
Ube4a	A	T	9: 44,859,439 (GRCm39)	L353Q	probably damaging	Het
Zfyve1	A	T	12: 83,621,572 (GRCm39)	N274K	probably benign	Het

Other mutations in Hyal2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Hyal2	APN	9	107,449,371 (GRCm39)	missense	probably damaging	1.00
IGL01834:Hyal2	APN	9	107,448,105 (GRCm39)	missense	probably damaging	1.00
IGL02469:Hyal2	APN	9	107,449,411 (GRCm39)	missense	probably damaging	1.00
R0505:Hyal2	UTSW	9	107,449,270 (GRCm39)	missense	probably benign	0.28
R1078:Hyal2	UTSW	9	107,449,445 (GRCm39)	missense	probably benign
R1543:Hyal2	UTSW	9	107,447,386 (GRCm39)	missense	probably damaging	0.98
R1858:Hyal2	UTSW	9	107,449,537 (GRCm39)	missense	probably benign	0.01
R1974:Hyal2	UTSW	9	107,449,371 (GRCm39)	missense	probably damaging	1.00
R3842:Hyal2	UTSW	9	107,449,320 (GRCm39)	missense	probably damaging	0.99
R4400:Hyal2	UTSW	9	107,448,052 (GRCm39)	missense	probably damaging	1.00
R5111:Hyal2	UTSW	9	107,448,310 (GRCm39)	missense	probably benign	0.00
R5922:Hyal2	UTSW	9	107,448,106 (GRCm39)	missense	probably damaging	1.00
R6026:Hyal2	UTSW	9	107,449,398 (GRCm39)	missense	probably benign	0.00
R6266:Hyal2	UTSW	9	107,447,914 (GRCm39)	missense	probably benign	0.08
R9563:Hyal2	UTSW	9	107,447,844 (GRCm39)	missense	probably damaging	0.98

Posted On

2012-04-20