Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02434:Hyal4'

293212

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hyal4

Ensembl Gene

ENSMUSG00000029680

Gene Name

hyaluronoglucosaminidase 4

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02434

Quality Score

Status

Chromosome

Chromosomal Location

24748329-24767662 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 24763858 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 339 (W339*)

Ref Sequence

ENSEMBL: ENSMUSP00000031691 (fasta)

Gene Model

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

AlphaFold

Q05A56

Predicted Effect

probably null
Transcript: ENSMUST00000031691
AA Change: W339*

SMART Domains

Protein: ENSMUSP00000031691
Gene: ENSMUSG00000029680
AA Change: W339*

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	C	A	15: 73,121,081	G525V	probably damaging	Het
Agxt2	T	C	15: 10,358,600	S2P	possibly damaging	Het
Atg2b	C	T	12: 105,639,207	V339I	probably benign	Het
Btc	T	A	5: 91,362,327	I136F	probably damaging	Het
Cemip	A	T	7: 83,955,284	M850K	probably damaging	Het
Cfap54	T	A	10: 93,066,754	T179S	probably benign	Het
Chd7	T	C	4: 8,752,145	L214P	probably benign	Het
Garnl3	T	A	2: 33,054,205	N114I	probably damaging	Het
Gm10010	G	T	6: 128,200,470		noncoding transcript	Het
Gstcd	A	G	3: 132,996,202		probably benign	Het
Htr2b	A	G	1: 86,110,770	V38A	probably benign	Het
Ifnb1	A	G	4: 88,522,518	V86A	probably damaging	Het
Itpr1	A	G	6: 108,489,922		probably null	Het
Jag1	T	C	2: 137,087,155	S794G	probably benign	Het
Kdm5c	T	A	X: 152,233,562	M1K	probably null	Het
Lct	A	G	1: 128,303,790	V774A	probably damaging	Het
Man2a2	G	A	7: 80,359,640	A822V	probably damaging	Het
Med14	A	T	X: 12,745,824	D371E	possibly damaging	Het
Nrcam	A	G	12: 44,590,243		probably benign	Het
Olfr116	T	A	17: 37,624,576	N20Y	possibly damaging	Het
Olfr670	A	T	7: 104,960,072	M220K	probably benign	Het
Olfr670	A	T	7: 104,960,074	Y219*	probably null	Het
Pitpnm1	C	T	19: 4,103,377	R178W	probably benign	Het
Prkcg	A	G	7: 3,318,890	I324V	probably benign	Het
Prpmp5	T	A	6: 132,312,376	R162W	unknown	Het
Prr30	A	T	14: 101,198,368	C253S	possibly damaging	Het
Ptgis	A	T	2: 167,240,342		probably null	Het
Rab11fip3	C	T	17: 26,068,835	A115T	possibly damaging	Het
Reps2	C	T	X: 162,526,257		probably null	Het
Rev3l	A	G	10: 39,822,591	D1028G	probably damaging	Het
Rsbn1l	T	C	5: 20,919,734	R357G	probably damaging	Het
Scn5a	A	G	9: 119,533,793	L587P	possibly damaging	Het
Tanc2	C	T	11: 105,780,042	T155I	probably benign	Het
Tfb2m	A	G	1: 179,532,135		probably benign	Het
Tfpi	A	G	2: 84,452,548		probably benign	Het
Tg	T	C	15: 66,764,342	S593P	probably damaging	Het
Unc13c	T	C	9: 73,932,628	S314G	probably benign	Het

Other mutations in Hyal4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01420:Hyal4	APN	6	24755872	missense	probably benign	0.03
IGL01791:Hyal4	APN	6	24763895	splice site	probably benign
IGL02523:Hyal4	APN	6	24765969	missense	probably damaging	0.96
IGL03114:Hyal4	APN	6	24755965	missense	probably benign	0.00
IGL02835:Hyal4	UTSW	6	24765715	missense	probably benign	0.00
PIT4494001:Hyal4	UTSW	6	24755834	missense	probably benign	0.05
R0196:Hyal4	UTSW	6	24756221	missense	probably damaging	1.00
R0323:Hyal4	UTSW	6	24756194	missense	probably benign	0.30
R0398:Hyal4	UTSW	6	24756671	missense	probably damaging	0.97
R0946:Hyal4	UTSW	6	24755913	nonsense	probably null
R0961:Hyal4	UTSW	6	24755746	utr 5 prime	probably benign
R1906:Hyal4	UTSW	6	24756111	missense	probably damaging	1.00
R1998:Hyal4	UTSW	6	24756311	missense	probably benign	0.00
R2085:Hyal4	UTSW	6	24755750	start gained	probably benign
R2483:Hyal4	UTSW	6	24765738	missense	probably damaging	0.96
R3622:Hyal4	UTSW	6	24765738	missense	probably damaging	0.96
R3623:Hyal4	UTSW	6	24765738	missense	probably damaging	0.96
R3624:Hyal4	UTSW	6	24765738	missense	probably damaging	0.96
R3712:Hyal4	UTSW	6	24756514	missense	probably damaging	1.00
R4031:Hyal4	UTSW	6	24756224	missense	probably damaging	1.00
R5762:Hyal4	UTSW	6	24765862	missense	possibly damaging	0.93
R6177:Hyal4	UTSW	6	24766090	nonsense	probably null
R6442:Hyal4	UTSW	6	24765850	missense	probably benign	0.08
R6494:Hyal4	UTSW	6	24765746	missense	possibly damaging	0.79
R6901:Hyal4	UTSW	6	24756191	missense	probably damaging	0.97
R7565:Hyal4	UTSW	6	24765934	missense	possibly damaging	0.77
R7973:Hyal4	UTSW	6	24755786	start codon destroyed	probably null	0.99
R7977:Hyal4	UTSW	6	24763866	missense	probably damaging	0.99
R7987:Hyal4	UTSW	6	24763866	missense	probably damaging	0.99
R8020:Hyal4	UTSW	6	24755996	missense	probably benign	0.14
R8676:Hyal4	UTSW	6	24755827	missense	probably damaging	0.99
R9331:Hyal4	UTSW	6	24765867	missense	probably damaging	1.00
R9573:Hyal4	UTSW	6	24756509	missense	not run
Z1176:Hyal4	UTSW	6	24756628	missense	probably damaging	1.00

Posted On

2015-04-16