Mutagenetix > Incidental Mutations

Incidental Mutation 'R0961:Hyal4'

99133

Institutional Source

Beutler Lab

Gene Symbol

Hyal4

Ensembl Gene

ENSMUSG00000029680

Gene Name

hyaluronoglucosaminidase 4

Synonyms

MMRRC Submission

039090-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0961 (G1)

Quality Score

125

Status

Validated

Chromosome

Chromosomal Location

24748329-24767662 bp(+) (GRCm38)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to G at 24755746 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031691 (fasta)

Gene Model

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

AlphaFold

Q05A56

Predicted Effect

probably benign
Transcript: ENSMUST00000031691

SMART Domains

Protein: ENSMUSP00000031691
Gene: ENSMUSG00000029680

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 95.6%
20x: 89.7%

Validation Efficiency

100% (60/60)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	C	2: 151,472,766	S331A	probably benign	Het
4930433I11Rik	A	T	7: 40,993,056	T141S	probably benign	Het
4933412E24Rik	T	C	15: 60,015,311	I427V	probably benign	Het
Abca15	A	T	7: 120,360,985	K664*	probably null	Het
Adcy8	A	G	15: 64,754,862	V709A	possibly damaging	Het
Aox2	T	A	1: 58,310,071	D665E	probably benign	Het
Arhgap22	C	T	14: 33,367,113	T352M	probably damaging	Het
Atg9a	G	A	1: 75,186,746	L237F	probably damaging	Het
Ccdc178	T	G	18: 22,019,041	K672T	possibly damaging	Het
Ccdc63	T	G	5: 122,110,946	K440T	possibly damaging	Het
Cd55b	A	T	1: 130,414,076	W275R	probably damaging	Het
Col4a3	T	C	1: 82,708,576		probably benign	Het
Dmpk	C	G	7: 19,087,270	D204E	probably damaging	Het
Egfr	T	C	11: 16,862,964	V148A	probably damaging	Het
F11	A	T	8: 45,241,494	V610E	probably damaging	Het
Fam83b	A	T	9: 76,491,295	I842N	probably damaging	Het
Fbxw9	T	C	8: 85,062,029	Y165H	probably benign	Het
Fzd6	C	T	15: 39,025,678	L64F	probably damaging	Het
Galntl6	A	T	8: 58,911,340	H45Q	probably benign	Het
Gbp7	C	A	3: 142,541,557	S276*	probably null	Het
Gnb5	A	T	9: 75,335,651	I168F	probably damaging	Het
Gon4l	T	C	3: 88,898,096		probably benign	Het
Gpat4	C	T	8: 23,180,911	C95Y	probably damaging	Het
Gstm7	T	A	3: 107,926,986		probably benign	Het
Iqca	C	A	1: 90,142,731	G133V	probably null	Het
Kank4	G	A	4: 98,756,519	R999W	probably benign	Het
Kdm2a	A	G	19: 4,329,191	V92A	probably benign	Het
Klhl9	T	C	4: 88,721,737	D89G	probably benign	Het
Klre1	A	G	6: 129,582,415	T103A	probably benign	Het
Lamc1	G	T	1: 153,221,700	L1533I	probably benign	Het
Lamc1	CGCTGGC	CGC	1: 153,221,646		probably null	Het
Lca5l	T	C	16: 96,161,360	H455R	possibly damaging	Het
Lmo7	C	A	14: 101,794,269	T33K	probably benign	Het
Lrig1	A	G	6: 94,663,914		probably benign	Het
Mep1b	T	A	18: 21,088,729	Y245*	probably null	Het
Mettl24	A	G	10: 40,810,619	T331A	possibly damaging	Het
Mycbp2	A	C	14: 103,184,835	D2467E	probably damaging	Het
Myo15b	T	C	11: 115,882,454	S1871P	probably benign	Het
Ncbp1	T	C	4: 46,165,193	L502P	possibly damaging	Het
Npr1	T	C	3: 90,458,721	N588D	possibly damaging	Het
Olfr1008	A	T	2: 85,689,446	T6S	probably benign	Het
Olfr130	T	A	17: 38,067,923	Y251N	probably damaging	Het
Oxtr	C	T	6: 112,477,177	R42Q	probably benign	Het
Phactr4	A	G	4: 132,378,420	S112P	probably benign	Het
R3hdm1	C	T	1: 128,193,596	T279I	probably benign	Het
Rere	A	G	4: 150,615,372		probably benign	Het
Ryr1	T	A	7: 29,009,697	E4779V	unknown	Het
Sh2d4b	A	G	14: 40,874,182	V81A	probably benign	Het
Slc10a5	T	C	3: 10,334,424	H392R	probably benign	Het
Slc26a4	T	C	12: 31,535,619	T477A	probably benign	Het
Spata31d1b	T	C	13: 59,717,804	V922A	possibly damaging	Het
Sptan1	T	A	2: 29,980,063		probably null	Het
Stard9	A	G	2: 120,693,439	D705G	probably benign	Het
Tdpoz3	T	A	3: 93,826,881	S288T	probably benign	Het
Tsga10	A	G	1: 37,761,428		probably null	Het
Usp18	G	A	6: 121,261,493	A200T	probably benign	Het
Zfp759	A	T	13: 67,139,863	T493S	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
IGL02434:Hyal4	APN	6	24763858	nonsense	probably null
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
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
Z1176:Hyal4	UTSW	6	24756628	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-10