Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03114:Hyal4'

419331

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hyal4

Ensembl Gene

ENSMUSG00000029680

Gene Name

hyaluronoglucosaminidase 4

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03114

Quality Score

Status

Chromosome

Chromosomal Location

24748329-24767662 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24755965 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 61 (I61L)

Ref Sequence

ENSEMBL: ENSMUSP00000031691 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031691]

AlphaFold

Q05A56

Predicted Effect

probably benign
Transcript: ENSMUST00000031691
AA Change: I61L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000031691
Gene: ENSMUSG00000029680
AA Change: I61L

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
Pfam:Glyco_hydro_56	41	373	3e-137	PFAM
EGF	375	447	2.81e0	SMART
low complexity region	453	473	N/A	INTRINSIC

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 protein which is similar in structure to hyaluronidases. 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. However, this protein has not yet been shown to have hyaluronidase activity. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	A	T	19: 29,717,132 (GRCm38)	S1654T	probably benign	Het
Abca13	T	A	11: 9,528,999 (GRCm38)	H4282Q	probably benign	Het
Acta2	A	G	19: 34,244,910 (GRCm38)		probably null	Het
Arl10	A	G	13: 54,575,766 (GRCm38)		probably benign	Het
Avpr1a	A	G	10: 122,449,718 (GRCm38)	Y305C	probably damaging	Het
Bmpr2	T	A	1: 59,867,444 (GRCm38)	N565K	probably damaging	Het
Boc	A	T	16: 44,486,752 (GRCm38)	S1035R	probably benign	Het
Ccdc7a	T	C	8: 129,026,689 (GRCm38)	N187S	possibly damaging	Het
Cntn5	C	T	9: 9,748,452 (GRCm38)	E680K	probably damaging	Het
Copa	T	A	1: 172,119,268 (GRCm38)	Y1014*	probably null	Het
Csmd3	A	G	15: 47,820,451 (GRCm38)	S1662P	probably damaging	Het
Cyp2e1	T	C	7: 140,773,129 (GRCm38)	F360L	possibly damaging	Het
Efnb3	A	T	11: 69,556,802 (GRCm38)		probably benign	Het
Egf	A	T	3: 129,736,880 (GRCm38)	L211Q	probably damaging	Het
Eno1	G	A	4: 150,241,126 (GRCm38)	R56H	probably benign	Het
Fyb2	A	G	4: 104,995,778 (GRCm38)	T552A	probably damaging	Het
Git2	G	A	5: 114,733,857 (GRCm38)		probably benign	Het
Gm5538	A	T	3: 59,743,723 (GRCm38)	I89F	possibly damaging	Het
Gm5771	T	A	6: 41,397,078 (GRCm38)	C205S	probably damaging	Het
Gtf2ird2	A	G	5: 134,216,910 (GRCm38)		probably null	Het
Kat14	T	C	2: 144,375,965 (GRCm38)		probably null	Het
Kif13b	T	C	14: 64,788,448 (GRCm38)	V1418A	probably benign	Het
Lcn12	T	C	2: 25,493,262 (GRCm38)	K35E	probably benign	Het
Lyrm7	G	T	11: 54,850,372 (GRCm38)	N45K	possibly damaging	Het
Micalcl	G	T	7: 112,397,557 (GRCm38)	G559V	probably damaging	Het
Mtrr	A	T	13: 68,564,322 (GRCm38)	C648*	probably null	Het
Muc5b	C	A	7: 141,858,819 (GRCm38)	S1834*	probably null	Het
Mup16	G	A	4: 61,518,013 (GRCm38)	T101M	probably benign	Het
Myof	A	T	19: 37,903,861 (GRCm38)	L1148Q	probably damaging	Het
Nags	A	T	11: 102,148,988 (GRCm38)	I501F	probably damaging	Het
Nbeal1	A	T	1: 60,278,727 (GRCm38)	Y672F	probably damaging	Het
Ncapg2	A	G	12: 116,452,373 (GRCm38)		probably benign	Het
Obscn	A	G	11: 59,000,539 (GRCm38)	S7056P	unknown	Het
Olfr593	T	C	7: 103,212,721 (GRCm38)	I287T	probably damaging	Het
Pde2a	C	A	7: 101,508,683 (GRCm38)		probably benign	Het
Piezo2	T	C	18: 63,030,272 (GRCm38)		probably null	Het
Pkhd1	C	A	1: 20,198,171 (GRCm38)	D3328Y	probably damaging	Het
Plxdc2	T	C	2: 16,650,124 (GRCm38)	V178A	probably damaging	Het
Prdx3	T	C	19: 60,873,118 (GRCm38)		probably benign	Het
Prkce	T	A	17: 86,654,555 (GRCm38)	D694E	probably damaging	Het
Ptdss1	T	A	13: 66,993,994 (GRCm38)	Y405*	probably null	Het
Rad54l	A	T	4: 116,098,532 (GRCm38)	W608R	probably damaging	Het
Rassf6	G	T	5: 90,608,790 (GRCm38)		probably benign	Het
Sema5a	A	T	15: 32,673,427 (GRCm38)	I804F	probably damaging	Het
Slc15a2	A	T	16: 36,751,905 (GRCm38)	I668N	probably damaging	Het
Thsd7b	A	G	1: 130,188,551 (GRCm38)	E1347G	probably benign	Het
Tmco3	T	C	8: 13,298,205 (GRCm38)		probably benign	Het
Ttn	T	C	2: 76,721,652 (GRCm38)	M31214V	probably null	Het
Uck1	G	A	2: 32,258,322 (GRCm38)	R161C	probably benign	Het
Ugt2b5	T	C	5: 87,128,350 (GRCm38)	Y355C	probably damaging	Het
Usp48	C	A	4: 137,656,125 (GRCm38)	T1031K	probably damaging	Het
Vmn1r202	G	A	13: 22,501,470 (GRCm38)	T259I	probably benign	Het
Vmn1r202	T	A	13: 22,501,330 (GRCm38)		probably benign	Het
Vmn2r90	T	C	17: 17,733,509 (GRCm38)	I645T	probably damaging	Het
Vps18	T	C	2: 119,293,651 (GRCm38)	V353A	possibly damaging	Het
Vwf	C	T	6: 125,599,363 (GRCm38)	Q469*	probably null	Het

Other mutations in Hyal4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01420:Hyal4	APN	6	24,755,872 (GRCm38)	missense	probably benign	0.03
IGL01791:Hyal4	APN	6	24,763,895 (GRCm38)	splice site	probably benign
IGL02434:Hyal4	APN	6	24,763,858 (GRCm38)	nonsense	probably null
IGL02523:Hyal4	APN	6	24,765,969 (GRCm38)	missense	probably damaging	0.96
IGL02835:Hyal4	UTSW	6	24,765,715 (GRCm38)	missense	probably benign	0.00
PIT4494001:Hyal4	UTSW	6	24,755,834 (GRCm38)	missense	probably benign	0.05
R0196:Hyal4	UTSW	6	24,756,221 (GRCm38)	missense	probably damaging	1.00
R0323:Hyal4	UTSW	6	24,756,194 (GRCm38)	missense	probably benign	0.30
R0398:Hyal4	UTSW	6	24,756,671 (GRCm38)	missense	probably damaging	0.97
R0946:Hyal4	UTSW	6	24,755,913 (GRCm38)	nonsense	probably null
R0961:Hyal4	UTSW	6	24,755,746 (GRCm38)	utr 5 prime	probably benign
R1906:Hyal4	UTSW	6	24,756,111 (GRCm38)	missense	probably damaging	1.00
R1998:Hyal4	UTSW	6	24,756,311 (GRCm38)	missense	probably benign	0.00
R2085:Hyal4	UTSW	6	24,755,750 (GRCm38)	start gained	probably benign
R2483:Hyal4	UTSW	6	24,765,738 (GRCm38)	missense	probably damaging	0.96
R3622:Hyal4	UTSW	6	24,765,738 (GRCm38)	missense	probably damaging	0.96
R3623:Hyal4	UTSW	6	24,765,738 (GRCm38)	missense	probably damaging	0.96
R3624:Hyal4	UTSW	6	24,765,738 (GRCm38)	missense	probably damaging	0.96
R3712:Hyal4	UTSW	6	24,756,514 (GRCm38)	missense	probably damaging	1.00
R4031:Hyal4	UTSW	6	24,756,224 (GRCm38)	missense	probably damaging	1.00
R5762:Hyal4	UTSW	6	24,765,862 (GRCm38)	missense	possibly damaging	0.93
R6177:Hyal4	UTSW	6	24,766,090 (GRCm38)	nonsense	probably null
R6442:Hyal4	UTSW	6	24,765,850 (GRCm38)	missense	probably benign	0.08
R6494:Hyal4	UTSW	6	24,765,746 (GRCm38)	missense	possibly damaging	0.79
R6901:Hyal4	UTSW	6	24,756,191 (GRCm38)	missense	probably damaging	0.97
R7565:Hyal4	UTSW	6	24,765,934 (GRCm38)	missense	possibly damaging	0.77
R7973:Hyal4	UTSW	6	24,755,786 (GRCm38)	start codon destroyed	probably null	0.99
R7977:Hyal4	UTSW	6	24,763,866 (GRCm38)	missense	probably damaging	0.99
R7987:Hyal4	UTSW	6	24,763,866 (GRCm38)	missense	probably damaging	0.99
R8020:Hyal4	UTSW	6	24,755,996 (GRCm38)	missense	probably benign	0.14
R8676:Hyal4	UTSW	6	24,755,827 (GRCm38)	missense	probably damaging	0.99
R9331:Hyal4	UTSW	6	24,765,867 (GRCm38)	missense	probably damaging	1.00
R9573:Hyal4	UTSW	6	24,756,509 (GRCm38)	missense	possibly damaging	0.62
Z1176:Hyal4	UTSW	6	24,756,628 (GRCm38)	missense	probably damaging	1.00

Posted On

2016-08-02