Mutagenetix > Incidental Mutation

Incidental Mutation 'R1575:Hyal5'

171089

Institutional Source

Beutler Lab

Gene Symbol

Hyal5

Ensembl Gene

ENSMUSG00000029678

Gene Name

hyaluronoglucosaminidase 5

Synonyms

4933439A12Rik

MMRRC Submission

039613-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R1575 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24857996-24891957 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24876792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 222 (D222Y)

Ref Sequence

ENSEMBL: ENSMUSP00000144011 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031689] [ENSMUST00000200968]

AlphaFold

Q812F3

Predicted Effect

probably damaging
Transcript: ENSMUST00000031689
AA Change: D222Y

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

SMART Domains

Protein: ENSMUSP00000031689
Gene: ENSMUSG00000029678
AA Change: D222Y

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_56	42	373	2.6e-142	PFAM
Blast:EGF	375	438	3e-14	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000200968
AA Change: D222Y

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

SMART Domains

Protein: ENSMUSP00000144011
Gene: ENSMUSG00000029678
AA Change: D222Y

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_56	42	373	2.6e-142	PFAM
Blast:EGF	375	438	3e-14	BLAST

Meta Mutation Damage Score

0.8477

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hyaluronidase degrades hyaluronic acid, a major structural proteoglycan found in extracellular matrices and basement membranes. Six members of the hyaluronidase family are clustered into two tightly linked groups on chromosome 3p21.3 and 7q31.3. This gene was previously referred to as HYAL1 and HYA1 and has since been assigned the official symbol SPAM1; another family member on chromosome 3p21.3 has been assigned HYAL1. This gene encodes a GPI-anchored enzyme located on the human sperm surface and inner acrosomal membrane. This multifunctional protein is a hyaluronidase that enables sperm to penetrate through the hyaluronic acid-rich cumulus cell layer surrounding the oocyte, a receptor that plays a role in hyaluronic acid induced cell signaling, and a receptor that is involved in sperm-zona pellucida adhesion. Abnormal expression of this gene in tumors has implicated this protein in degradation of basement membranes leading to tumor invasion and metastasis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
PHENOTYPE: Reproduction is normal in mice with null mutations at this marker. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	A	3: 148,558,398 (GRCm39)	T437S	probably benign	Het
Akna	A	G	4: 63,297,570 (GRCm39)	F828S	probably benign	Het
Alg9	G	T	9: 50,686,802 (GRCm39)	A40S	possibly damaging	Het
Alox8	T	A	11: 69,076,067 (GRCm39)	H628L	possibly damaging	Het
Aox3	T	C	1: 58,191,713 (GRCm39)	W422R	probably benign	Het
Atp13a4	T	C	16: 29,228,528 (GRCm39)	D984G	probably benign	Het
Bcam	T	C	7: 19,494,307 (GRCm39)	E363G	possibly damaging	Het
Cadps2	C	A	6: 23,429,217 (GRCm39)	V519F	probably damaging	Het
Calca	A	G	7: 114,234,396 (GRCm39)	Y18H	probably damaging	Het
Cd70	A	G	17: 57,453,364 (GRCm39)	I100T	probably damaging	Het
Cdk4	T	A	10: 126,900,520 (GRCm39)	H95Q	probably damaging	Het
Chchd1	T	A	14: 20,753,410 (GRCm39)	N11K	probably damaging	Het
Cma2	T	A	14: 56,210,272 (GRCm39)	N52K	probably damaging	Het
Cyp3a16	A	G	5: 145,373,267 (GRCm39)	V500A	probably benign	Het
Dicer1	A	G	12: 104,688,228 (GRCm39)		probably null	Het
Dnajc13	A	G	9: 104,034,037 (GRCm39)	S2206P	probably benign	Het
Dtl	T	C	1: 191,293,658 (GRCm39)		probably null	Het
Fam186b	T	C	15: 99,184,852 (GRCm39)	T24A	probably benign	Het
Fbxw21	A	G	9: 108,990,984 (GRCm39)	V25A	probably benign	Het
Gins1	T	C	2: 150,754,758 (GRCm39)	S45P	probably benign	Het
Gtpbp2	T	A	17: 46,476,869 (GRCm39)	V349D	probably damaging	Het
Itgal	A	G	7: 126,900,060 (GRCm39)		probably null	Het
Klk14	A	G	7: 43,343,377 (GRCm39)		probably null	Het
Lama1	T	A	17: 68,117,404 (GRCm39)	L2518Q	possibly damaging	Het
Lrrc2	G	A	9: 110,808,555 (GRCm39)	G264D	probably benign	Het
Ltbp4	A	G	7: 27,022,245 (GRCm39)	S893P	probably damaging	Het
Mast4	G	A	13: 102,875,771 (GRCm39)	P1107L	probably damaging	Het
Mbd1	T	A	18: 74,408,490 (GRCm39)		probably null	Het
Naip2	A	T	13: 100,291,529 (GRCm39)	D1136E	probably benign	Het
Naip2	G	A	13: 100,291,537 (GRCm39)		probably benign	Het
Ncan	G	A	8: 70,562,848 (GRCm39)	T470I	probably benign	Het
Npy1r	A	T	8: 67,156,813 (GRCm39)	I78F	probably damaging	Het
Or10q1b	A	T	19: 13,682,889 (GRCm39)	M233L	probably benign	Het
Or8b52	G	A	9: 38,576,573 (GRCm39)	T189M	probably damaging	Het
Palb2	A	T	7: 121,710,061 (GRCm39)		probably null	Het
Pax3	T	C	1: 78,080,121 (GRCm39)	T422A	probably benign	Het
Pebp1	A	T	5: 117,424,229 (GRCm39)	D72E	possibly damaging	Het
Pnliprp1	A	T	19: 58,728,901 (GRCm39)	T363S	probably benign	Het
Rbm44	G	A	1: 91,084,565 (GRCm39)		probably null	Het
Rbm47	T	A	5: 66,182,358 (GRCm39)	Y425F	probably benign	Het
Robo3	G	T	9: 37,340,957 (GRCm39)	A83E	probably damaging	Het
Rrm1	A	G	7: 102,105,721 (GRCm39)	Y279C	probably damaging	Het
Rslcan18	A	T	13: 67,256,121 (GRCm39)		probably benign	Het
Scara5	C	A	14: 65,968,314 (GRCm39)	Q196K	probably benign	Het
Setd1b	C	T	5: 123,301,210 (GRCm39)		probably benign	Het
Siah1a	A	G	8: 87,451,869 (GRCm39)	F205S	probably damaging	Het
Smr2	AT	ATT	5: 88,256,683 (GRCm39)		probably null	Het
Ssu72	A	G	4: 155,815,814 (GRCm39)	D86G	probably benign	Het
St7	G	T	6: 17,886,110 (GRCm39)	K357N	probably damaging	Het
Sv2b	G	A	7: 74,797,425 (GRCm39)	T323I	probably damaging	Het
Syt1	T	C	10: 108,340,361 (GRCm39)	N319S	probably benign	Het
Tanc1	T	A	2: 59,621,995 (GRCm39)	F371L	probably damaging	Het
Tcf20	C	A	15: 82,739,693 (GRCm39)	G586V	probably benign	Het
Tg	T	C	15: 66,601,534 (GRCm39)		probably null	Het
Tyk2	A	T	9: 21,026,758 (GRCm39)	N620K	probably benign	Het
Ube2j1	T	A	4: 33,045,116 (GRCm39)	S130T	probably benign	Het
Ubr2	G	T	17: 47,243,418 (GRCm39)	P1696H	probably damaging	Het
Ubr5	A	T	15: 38,041,085 (GRCm39)	D266E	probably damaging	Het
Vipr2	A	G	12: 116,107,892 (GRCm39)	T426A	probably benign	Het
Vmn2r104	A	T	17: 20,262,477 (GRCm39)	W218R	probably damaging	Het
Vmn2r83	T	A	10: 79,314,956 (GRCm39)	N401K	probably damaging	Het
Vwf	A	G	6: 125,632,214 (GRCm39)	E82G	unknown	Het
Vwf	T	A	6: 125,640,534 (GRCm39)	Y2323*	probably null	Het
Wdr76	T	G	2: 121,359,402 (GRCm39)	V329G	probably damaging	Het
Zan	A	G	5: 137,460,214 (GRCm39)	C1226R	unknown	Het
Zbtb16	G	T	9: 48,743,572 (GRCm39)	Q247K	probably damaging	Het
Zfp541	T	C	7: 15,812,640 (GRCm39)	V431A	possibly damaging	Het

Other mutations in Hyal5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Hyal5	APN	6	24,876,480 (GRCm39)	missense	possibly damaging	0.92
IGL01407:Hyal5	APN	6	24,876,406 (GRCm39)	missense	probably benign	0.08
IGL01799:Hyal5	APN	6	24,891,336 (GRCm39)	missense	probably benign	0.09
IGL02070:Hyal5	APN	6	24,876,961 (GRCm39)	missense	probably damaging	1.00
IGL02087:Hyal5	APN	6	24,876,724 (GRCm39)	missense	probably damaging	1.00
IGL02188:Hyal5	APN	6	24,877,035 (GRCm39)	missense	probably damaging	1.00
IGL02321:Hyal5	APN	6	24,891,614 (GRCm39)	missense	probably benign	0.01
IGL02975:Hyal5	APN	6	24,891,451 (GRCm39)	missense	probably benign	0.41
IGL03299:Hyal5	APN	6	24,877,881 (GRCm39)	missense	probably damaging	1.00
R0239:Hyal5	UTSW	6	24,876,343 (GRCm39)	missense	probably damaging	1.00
R0239:Hyal5	UTSW	6	24,876,343 (GRCm39)	missense	probably damaging	1.00
R0499:Hyal5	UTSW	6	24,877,920 (GRCm39)	missense	probably damaging	1.00
R1491:Hyal5	UTSW	6	24,877,902 (GRCm39)	missense	probably benign	0.00
R1967:Hyal5	UTSW	6	24,876,193 (GRCm39)	missense	possibly damaging	0.68
R2182:Hyal5	UTSW	6	24,877,879 (GRCm39)	missense	probably damaging	1.00
R3801:Hyal5	UTSW	6	24,876,523 (GRCm39)	missense	probably benign	0.44
R3877:Hyal5	UTSW	6	24,876,630 (GRCm39)	missense	probably damaging	1.00
R4642:Hyal5	UTSW	6	24,876,621 (GRCm39)	missense	probably benign	0.01
R4826:Hyal5	UTSW	6	24,891,575 (GRCm39)	missense	possibly damaging	0.82
R5058:Hyal5	UTSW	6	24,891,484 (GRCm39)	missense	probably damaging	1.00
R5161:Hyal5	UTSW	6	24,891,602 (GRCm39)	missense	probably benign	0.00
R5249:Hyal5	UTSW	6	24,876,648 (GRCm39)	nonsense	probably null
R5459:Hyal5	UTSW	6	24,891,250 (GRCm39)	missense	probably damaging	0.98
R5685:Hyal5	UTSW	6	24,876,691 (GRCm39)	missense	probably benign	0.39
R5741:Hyal5	UTSW	6	24,876,494 (GRCm39)	missense	probably damaging	1.00
R5849:Hyal5	UTSW	6	24,891,555 (GRCm39)	missense	probably benign	0.00
R6156:Hyal5	UTSW	6	24,891,437 (GRCm39)	missense	possibly damaging	0.92
R6351:Hyal5	UTSW	6	24,891,708 (GRCm39)	splice site	probably null
R6573:Hyal5	UTSW	6	24,891,551 (GRCm39)	missense	probably damaging	0.96
R6949:Hyal5	UTSW	6	24,876,303 (GRCm39)	missense	probably benign	0.00
R6966:Hyal5	UTSW	6	24,891,291 (GRCm39)	missense	probably damaging	1.00
R7148:Hyal5	UTSW	6	24,876,901 (GRCm39)	missense	probably damaging	1.00
R7422:Hyal5	UTSW	6	24,875,983 (GRCm39)	start gained	probably benign
R7836:Hyal5	UTSW	6	24,891,347 (GRCm39)	missense	probably damaging	1.00
R8062:Hyal5	UTSW	6	24,876,196 (GRCm39)	missense	possibly damaging	0.73
R8127:Hyal5	UTSW	6	24,891,487 (GRCm39)	missense	probably benign	0.05
R8220:Hyal5	UTSW	6	24,876,879 (GRCm39)	missense	probably benign	0.00
R9214:Hyal5	UTSW	6	24,876,403 (GRCm39)	missense	probably damaging	1.00
R9278:Hyal5	UTSW	6	24,876,694 (GRCm39)	missense	probably benign	0.00
R9636:Hyal5	UTSW	6	24,876,656 (GRCm39)	missense	possibly damaging	0.81
R9675:Hyal5	UTSW	6	24,876,635 (GRCm39)	missense	probably benign	0.27
X0061:Hyal5	UTSW	6	24,876,972 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- ATTGGGAAGAATGGCGGCCTAC -3'
(R):5'- ACACTCGAATGGCTTCTTGTACACG -3'

Sequencing Primer
(F):5'- CCTACCTGGGCAAGAAATTGG -3'
(R):5'- CACGATTTCTGACATACAGTGC -3'

Posted On

2014-04-13