Mutagenetix > Incidental Mutation

Incidental Mutation 'R8220:Hyal5'

636610

Institutional Source

Beutler Lab

Gene Symbol

Hyal5

Ensembl Gene

ENSMUSG00000029678

Gene Name

hyaluronoglucosaminidase 5

Synonyms

4933439A12Rik

MMRRC Submission

067638-MU

Accession Numbers

Essential gene?

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

Stock #

R8220 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24857996-24891957 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24876879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 251 (I251L)

Ref Sequence

ENSEMBL: ENSMUSP00000031689 (fasta)

Gene Model

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

AlphaFold

Q812F3

Predicted Effect

probably benign
Transcript: ENSMUST00000031689
AA Change: I251L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000031689
Gene: ENSMUSG00000029678
AA Change: I251L

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 benign
Transcript: ENSMUST00000200968
AA Change: I251L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000144011
Gene: ENSMUSG00000029678
AA Change: I251L

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: 99.9%
10x: 99.6%
20x: 99.1%

Validation Efficiency

100% (78/78)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057N15Rik	A	T	16: 88,570,723 (GRCm39)	C106S	probably damaging	Het
Abca13	C	T	11: 9,384,299 (GRCm39)	T3917M	possibly damaging	Het
Abcb8	T	C	5: 24,611,783 (GRCm39)	I533T	possibly damaging	Het
Becn1	C	T	11: 101,187,105 (GRCm39)	R78Q	possibly damaging	Het
Bhlha9	T	C	11: 76,563,703 (GRCm39)	I110T	probably damaging	Het
Cemip	T	C	7: 83,596,368 (GRCm39)	D1132G	probably damaging	Het
Cyth3	T	A	5: 143,687,344 (GRCm39)		probably null	Het
Dcpp2	A	G	17: 24,119,666 (GRCm39)	E160G	possibly damaging	Het
Dock10	C	T	1: 80,506,366 (GRCm39)	G1726S	probably null	Het
Dsel	T	C	1: 111,789,437 (GRCm39)	D366G	probably damaging	Het
Ednrb	A	T	14: 104,059,141 (GRCm39)	L295Q	probably damaging	Het
Etaa1	C	T	11: 17,895,690 (GRCm39)	R809K	probably benign	Het
Fahd1	A	G	17: 25,068,864 (GRCm39)	L71P	probably damaging	Het
Fat1	A	G	8: 45,492,993 (GRCm39)	E3882G	probably null	Het
Frem2	A	T	3: 53,563,928 (GRCm39)	L193*	probably null	Het
Gba2	T	G	4: 43,568,510 (GRCm39)	D652A	probably damaging	Het
Gm5460	C	T	14: 33,767,876 (GRCm39)	P220S	probably damaging	Het
Gm7137	A	T	10: 77,623,785 (GRCm39)	C84S	unknown	Het
Gm8122	G	T	14: 43,090,174 (GRCm39)		probably null	Het
H1f4	T	C	13: 23,805,922 (GRCm39)	S187G	probably benign	Het
Igf2r	A	T	17: 12,910,958 (GRCm39)	S1953R	probably benign	Het
Igkc	C	A	6: 70,703,666 (GRCm39)	N82K		Het
Il18	T	A	9: 50,486,616 (GRCm39)	M15K	possibly damaging	Het
Insr	T	A	8: 3,208,702 (GRCm39)	E1253V	probably benign	Het
Itgax	A	G	7: 127,730,090 (GRCm39)	Q82R	probably benign	Het
Kcnn3	A	G	3: 89,568,548 (GRCm39)	I609V	probably benign	Het
Klk14	A	G	7: 43,343,498 (GRCm39)	D110G	probably damaging	Het
Lamb3	T	A	1: 193,016,556 (GRCm39)	L679Q	probably damaging	Het
Lgsn	C	T	1: 31,235,881 (GRCm39)	A115V	probably benign	Het
Lipt1	C	T	1: 37,914,706 (GRCm39)	T254M	probably damaging	Het
Lrrc3b	T	C	14: 15,358,004 (GRCm38)	T201A	probably damaging	Het
Lrrc49	T	A	9: 60,517,613 (GRCm39)	D432V	probably benign	Het
Meltf	A	G	16: 31,706,233 (GRCm39)	N239S	probably benign	Het
Mki67	G	A	7: 135,299,850 (GRCm39)	A1728V	probably benign	Het
Mms22l	T	A	4: 24,536,375 (GRCm39)	L615I	probably damaging	Het
Mtcl3	C	T	10: 29,023,264 (GRCm39)	Q204*	probably null	Het
Mttp	C	A	3: 137,829,609 (GRCm39)	G93V	probably benign	Het
Muc4	A	T	16: 32,575,701 (GRCm39)	T1734S	unknown	Het
Myh9	C	T	15: 77,648,747 (GRCm39)	R1703Q	possibly damaging	Het
N4bp1	T	C	8: 87,571,315 (GRCm39)	*894W	probably null	Het
Nab2	C	A	10: 127,498,645 (GRCm39)	V475L	probably benign	Het
Nup43	C	T	10: 7,552,097 (GRCm39)	A295V	probably benign	Het
Or1af1	T	C	2: 37,109,791 (GRCm39)	C97R	probably benign	Het
Or4b12	T	C	2: 90,096,387 (GRCm39)	H129R	probably benign	Het
Or7g32	G	T	9: 19,408,317 (GRCm39)	S91I	probably damaging	Het
Or8k3	C	T	2: 86,059,309 (GRCm39)	G2E	probably benign	Het
Or9m2	C	T	2: 87,820,496 (GRCm39)	L14F	probably damaging	Het
Pcdha11	A	G	18: 37,139,624 (GRCm39)	T418A	probably benign	Het
Pdzd2	T	C	15: 12,592,249 (GRCm39)	K132E	probably damaging	Het
Pira13	T	C	7: 3,825,903 (GRCm39)	E322G	unknown	Het
Plec	C	T	15: 76,062,497 (GRCm39)	R2480H	possibly damaging	Het
Plscr2	G	A	9: 92,177,713 (GRCm39)	G293D	probably damaging	Het
Prr23a4	A	G	9: 98,785,581 (GRCm39)	D82G	probably benign	Het
Ptchd4	A	G	17: 42,813,554 (GRCm39)	H485R	probably benign	Het
Rbbp9	A	T	2: 144,389,986 (GRCm39)	M59K	probably null	Het
Rest	G	A	5: 77,430,325 (GRCm39)	A915T	probably benign	Het
Rhbdf1	C	T	11: 32,164,563 (GRCm39)	A168T	probably benign	Het
Scamp2	A	T	9: 57,484,953 (GRCm39)	Q53L	probably benign	Het
Scn2a	T	C	2: 65,520,620 (GRCm39)	F539L	probably benign	Het
Sdr16c6	A	T	4: 4,076,872 (GRCm39)	I9N	probably benign	Het
Slc23a3	T	A	1: 75,110,511 (GRCm39)		probably benign	Het
Slc6a19	A	G	13: 73,833,889 (GRCm39)	S390P	probably damaging	Het
Snx11	C	T	11: 96,661,885 (GRCm39)	R99Q	probably damaging	Het
Suclg2	T	A	6: 95,565,927 (GRCm39)	I189F	possibly damaging	Het
Tedc1	T	C	12: 113,120,375 (GRCm39)		probably null	Het
Timeless	A	T	10: 128,082,265 (GRCm39)	R598W	probably damaging	Het
Tm9sf3	A	T	19: 41,203,526 (GRCm39)	N583K	possibly damaging	Het
Tox3	A	G	8: 90,984,708 (GRCm39)	V157A	probably damaging	Het
Tpr	G	T	1: 150,308,164 (GRCm39)	V1640L	probably benign	Het
Trav7-4	C	T	14: 53,699,102 (GRCm39)	A83V	probably benign	Het
Trdn	A	G	10: 33,326,981 (GRCm39)	K590R	possibly damaging	Het
Trim11	T	C	11: 58,881,220 (GRCm39)	L371P	probably damaging	Het
Trim5	T	A	7: 103,926,033 (GRCm39)	Q176L	probably damaging	Het
Tubgcp2	T	C	7: 139,586,053 (GRCm39)	H412R	possibly damaging	Het
Ugt2b35	T	A	5: 87,149,302 (GRCm39)	S184R	probably damaging	Het
Ush2a	T	A	1: 188,460,863 (GRCm39)	V2708E	probably damaging	Het
Vmn1r87	T	A	7: 12,865,427 (GRCm39)	T287S	possibly damaging	Het
Zbtb7a	A	G	10: 80,980,838 (GRCm39)	D344G	probably damaging	Het
Zfp560	G	T	9: 20,260,348 (GRCm39)	N171K	probably benign	Het
Zfp579	A	T	7: 4,996,850 (GRCm39)	C354S	probably benign	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
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'- CACAGAAGCTGTCAAGTGGG -3'
(R):5'- AGCTACCATGCCTTGATTTACTTAC -3'

Sequencing Primer
(F):5'- GCTGTCAAGTGGGCCAAAG -3'
(R):5'- TAAGTTAGGTCAGTAAAGACAATGC -3'

Posted On

2020-07-13