Mutagenetix > Incidental Mutation

Incidental Mutation 'R9214:Hyal5'

699058

Institutional Source

Beutler Lab

Gene Symbol

Hyal5

Ensembl Gene

ENSMUSG00000029678

Gene Name

hyaluronoglucosaminidase 5

Synonyms

4933439A12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R9214 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24857996-24891957 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24876403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 92 (Y92C)

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: Y92C

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

SMART Domains

Protein: ENSMUSP00000031689
Gene: ENSMUSG00000029678
AA Change: Y92C

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: Y92C

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

SMART Domains

Protein: ENSMUSP00000144011
Gene: ENSMUSG00000029678
AA Change: Y92C

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (64/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,890,653 (GRCm39)	D352G	probably benign	Het
Abi1	A	T	2: 22,831,989 (GRCm39)	Y447*	probably null	Het
Acot1	A	G	12: 84,064,189 (GRCm39)	Y124C		Het
Adgrf4	T	C	17: 42,978,704 (GRCm39)	N213S	possibly damaging	Het
Alg9	T	A	9: 50,717,545 (GRCm39)	Y443N	probably damaging	Het
Bhlhe22	A	G	3: 18,109,024 (GRCm39)	T25A	probably benign	Het
Bpifa1	C	A	2: 153,985,789 (GRCm39)	P35T	unknown	Het
Btbd16	T	C	7: 130,381,437 (GRCm39)		probably null	Het
Ccdc187	G	T	2: 26,183,409 (GRCm39)	T197K	probably benign	Het
Cd209b	A	G	8: 3,968,771 (GRCm39)	V295A	probably benign	Het
Cdcp3	C	T	7: 130,824,481 (GRCm39)	S192L	possibly damaging	Het
Clrn2	G	T	5: 45,617,518 (GRCm39)	A130S	probably benign	Het
Cnrip1	A	G	11: 17,004,740 (GRCm39)	T97A	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Col6a5	T	C	9: 105,758,940 (GRCm39)	T2089A	possibly damaging	Het
Cyfip1	T	A	7: 55,523,273 (GRCm39)		probably null	Het
Ddx1	A	G	12: 13,286,119 (GRCm39)	S278P	probably benign	Het
Dnah12	A	C	14: 26,445,060 (GRCm39)	E654D	probably benign	Het
Efcab7	T	C	4: 99,735,437 (GRCm39)	S154P	probably damaging	Het
Emcn	T	C	3: 137,047,029 (GRCm39)	F10S	probably damaging	Het
Fhip2a	A	G	19: 57,373,756 (GRCm39)	H672R	probably damaging	Het
Flg2	G	T	3: 93,110,884 (GRCm39)	A971S	unknown	Het
Gli2	A	T	1: 118,795,791 (GRCm39)	H121Q	probably damaging	Het
Gm3633	A	G	14: 42,460,359 (GRCm39)		probably benign	Het
Golga2	T	C	2: 32,195,822 (GRCm39)	L846P	probably damaging	Het
Golga7b	A	T	19: 42,255,440 (GRCm39)	I106F	probably damaging	Het
Hltf	T	C	3: 20,140,280 (GRCm39)	S460P	probably benign	Het
Kif19b	G	A	5: 140,468,257 (GRCm39)	R649Q	probably benign	Het
Mapk1	T	A	16: 16,853,549 (GRCm39)	C84S	probably benign	Het
Marchf10	A	G	11: 105,281,100 (GRCm39)	V395A	probably benign	Het
Meltf	A	G	16: 31,697,763 (GRCm39)	T7A	probably benign	Het
Mfhas1	T	A	8: 36,057,730 (GRCm39)	V735D	probably damaging	Het
Mia2	G	T	12: 59,223,150 (GRCm39)	R486L	possibly damaging	Het
Mmp20	T	C	9: 7,628,327 (GRCm39)	L25P	probably benign	Het
Mprip	C	T	11: 59,650,901 (GRCm39)	T1535I	possibly damaging	Het
Mrpl9	T	A	3: 94,355,126 (GRCm39)	S233T	possibly damaging	Het
Muc21	T	A	17: 35,931,838 (GRCm39)	S783C	unknown	Het
Nckap5	A	C	1: 125,942,376 (GRCm39)	V1576G	probably benign	Het
Ntng1	T	C	3: 109,841,921 (GRCm39)	Y284C	probably damaging	Het
Numa1	T	A	7: 101,650,139 (GRCm39)	V1290D	probably damaging	Het
Or52l1	T	G	7: 104,829,587 (GRCm39)	Y326S	probably benign	Het
Pcdhgc4	A	T	18: 37,950,264 (GRCm39)	D560V	probably damaging	Het
Pla2g1b	A	G	5: 115,610,107 (GRCm39)	K84E	possibly damaging	Het
Pramel16	T	C	4: 143,675,750 (GRCm39)	I359V	probably benign	Het
Prrt4	C	T	6: 29,170,767 (GRCm39)	A562T	possibly damaging	Het
Rab6a	T	C	7: 100,275,786 (GRCm39)	F33S	probably damaging	Het
Rgs11	A	G	17: 26,427,260 (GRCm39)	Y397C	probably damaging	Het
Rnf43	A	T	11: 87,622,111 (GRCm39)	H277L	probably benign	Het
Ryr1	A	G	7: 28,785,187 (GRCm39)	S1842P	possibly damaging	Het
Slc25a34	C	T	4: 141,350,641 (GRCm39)	A123T	probably damaging	Het
Smoc2	A	G	17: 14,556,839 (GRCm39)	Y96C	probably damaging	Het
Sqle	A	G	15: 59,194,765 (GRCm39)	E267G	probably benign	Het
Sspo	G	A	6: 48,440,869 (GRCm39)	R1777H	possibly damaging	Het
Stx6	T	A	1: 155,067,210 (GRCm39)	N133K	probably benign	Het
Taf7l2	T	C	10: 115,948,903 (GRCm39)	T208A	probably benign	Het
Thoc5	A	T	11: 4,864,303 (GRCm39)	Q320L	probably benign	Het
Tmc4	G	C	7: 3,670,497 (GRCm39)	C531W	probably damaging	Het
Tmigd1	A	G	11: 76,801,031 (GRCm39)	T173A	probably damaging	Het
Tpp2	A	C	1: 44,031,514 (GRCm39)	M1111L	probably benign	Het
Ttc21a	T	C	9: 119,772,941 (GRCm39)	V206A	probably benign	Het
Ulk1	A	T	5: 110,936,663 (GRCm39)	V758E	possibly damaging	Het
Vdr	T	A	15: 97,767,600 (GRCm39)	H130L	probably benign	Het
Vps13b	A	G	15: 35,623,892 (GRCm39)	T1270A	probably damaging	Het
Zc3h13	A	G	14: 75,560,991 (GRCm39)	D527G	unknown	Het
Zfp512	C	T	5: 31,637,434 (GRCm39)	R508W	probably damaging	Het
Zfp606	A	G	7: 12,215,026 (GRCm39)	T85A	unknown	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
R1575:Hyal5	UTSW	6	24,876,792 (GRCm39)	missense	probably damaging	1.00
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
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'- TGGACTACCCCAGACACTATTAG -3'
(R):5'- TCCAATTTCTTGCCCAGGTAGG -3'

Sequencing Primer
(F):5'- GACTACCCCAGACACTATTAGTCTTC -3'
(R):5'- AGGTAGGCCGCCATTCTTC -3'

Posted On

2022-02-07