Mutagenetix > Incidental Mutation

Incidental Mutation 'R1491:Hyal5'

163734

Institutional Source

Beutler Lab

Gene Symbol

Hyal5

Ensembl Gene

ENSMUSG00000029678

Gene Name

hyaluronoglucosaminidase 5

Synonyms

4933439A12Rik

MMRRC Submission

039543-MU

Accession Numbers

Essential gene?

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

Stock #

R1491 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24857996-24891957 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24877902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 333 (T333A)

Ref Sequence

ENSEMBL: ENSMUSP00000144011 (fasta)

Gene Model

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

AlphaFold

Q812F3

Predicted Effect

probably benign
Transcript: ENSMUST00000031689
AA Change: T333A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000031689
Gene: ENSMUSG00000029678
AA Change: T333A

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: T333A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144011
Gene: ENSMUSG00000029678
AA Change: T333A

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: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.2%

Validation Efficiency

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730018C14Rik	T	A	12: 112,381,489 (GRCm39)		noncoding transcript	Het
Acss3	A	G	10: 106,773,169 (GRCm39)	S606P	probably benign	Het
Adamts13	C	T	2: 26,868,327 (GRCm39)	T146M	probably damaging	Het
Adora2b	G	A	11: 62,156,363 (GRCm39)	V271M	probably benign	Het
Agpat5	A	G	8: 18,896,739 (GRCm39)	Y55C	probably damaging	Het
AI987944	A	C	7: 41,023,772 (GRCm39)	Y402*	probably null	Het
Angptl4	C	T	17: 34,000,165 (GRCm39)	A68T	possibly damaging	Het
Ankmy1	T	C	1: 92,814,531 (GRCm39)	I325M	probably benign	Het
Arfgap2	A	G	2: 91,105,204 (GRCm39)	K423E	probably damaging	Het
Arfgef3	A	T	10: 18,522,302 (GRCm39)	S575T	probably damaging	Het
Arhgap24	A	G	5: 103,008,198 (GRCm39)	I40V	possibly damaging	Het
Arhgef7	T	C	8: 11,869,733 (GRCm39)		probably null	Het
Arid1a	C	A	4: 133,448,237 (GRCm39)	S477I	unknown	Het
Armc7	T	C	11: 115,367,029 (GRCm39)	V58A	probably damaging	Het
Arrdc5	A	T	17: 56,601,222 (GRCm39)	I301N	probably damaging	Het
Capn15	G	A	17: 26,183,453 (GRCm39)	P343S	probably damaging	Het
Catspere2	C	T	1: 177,843,495 (GRCm39)	T69I	possibly damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Cgn	C	T	3: 94,670,535 (GRCm39)	R1002Q	probably damaging	Het
Clstn3	A	T	6: 124,414,449 (GRCm39)	I759N	possibly damaging	Het
Cops5	A	G	1: 10,104,243 (GRCm39)	V166A	possibly damaging	Het
Cramp1	G	T	17: 25,191,323 (GRCm39)	T1046K	probably benign	Het
Cthrc1	T	G	15: 38,950,072 (GRCm39)	V143G	probably damaging	Het
Cul9	G	A	17: 46,849,490 (GRCm39)	Q552*	probably null	Het
Cyp27b1	A	T	10: 126,886,957 (GRCm39)	D391V	probably damaging	Het
Dcun1d2	A	G	8: 13,331,040 (GRCm39)	L30S	probably damaging	Het
Dsc3	T	C	18: 20,120,091 (GRCm39)	E189G	probably damaging	Het
Dst	T	G	1: 34,193,675 (GRCm39)	S295A	probably damaging	Het
Dusp22	A	G	13: 30,892,798 (GRCm39)	T192A	probably benign	Het
Esp24	A	T	17: 39,349,176 (GRCm39)	M1L	probably null	Het
Evc2	G	A	5: 37,550,541 (GRCm39)		probably null	Het
Fgd6	A	G	10: 93,880,694 (GRCm39)	N516S	probably benign	Het
Fmn1	T	C	2: 113,426,714 (GRCm39)	Y1144H	probably damaging	Het
Fut8	T	A	12: 77,495,448 (GRCm39)	I346K	possibly damaging	Het
Gata3	A	C	2: 9,882,201 (GRCm39)	V32G	probably damaging	Het
Glrb	A	T	3: 80,819,282 (GRCm39)	C39S	possibly damaging	Het
Gpr171	A	G	3: 59,005,016 (GRCm39)	V253A	probably benign	Het
Hdac5	A	G	11: 102,092,079 (GRCm39)	V670A	probably benign	Het
Hmgxb3	T	C	18: 61,266,980 (GRCm39)	S1085G	probably benign	Het
Hspa4l	A	G	3: 40,741,226 (GRCm39)	N746S	probably benign	Het
Ippk	T	C	13: 49,615,069 (GRCm39)	V484A	probably benign	Het
Jmjd8	A	T	17: 26,048,266 (GRCm39)	T33S	possibly damaging	Het
Kctd19	T	A	8: 106,113,694 (GRCm39)	I660L	possibly damaging	Het
Lrat	A	G	3: 82,810,649 (GRCm39)	V124A	probably benign	Het
Madcam1	A	G	10: 79,502,358 (GRCm39)	I281V	probably benign	Het
Mast2	T	A	4: 116,173,688 (GRCm39)	I455F	possibly damaging	Het
Mroh7	A	G	4: 106,560,255 (GRCm39)	L683P	probably benign	Het
Myo15b	C	A	11: 115,777,683 (GRCm39)		probably null	Het
Ncam1	T	C	9: 49,416,849 (GRCm39)	E814G	probably benign	Het
Ncoa3	A	G	2: 165,897,182 (GRCm39)	T658A	probably benign	Het
Or13a20	T	G	7: 140,232,650 (GRCm39)	Y253D	probably damaging	Het
Or9a2	T	C	6: 41,748,456 (GRCm39)	Y259C	possibly damaging	Het
P2ry13	T	C	3: 59,116,939 (GRCm39)	K280E	probably damaging	Het
Paqr8	C	A	1: 21,005,048 (GRCm39)	F67L	probably benign	Het
Pfkfb3	G	T	2: 11,498,747 (GRCm39)	R37S	probably damaging	Het
Phf14	A	G	6: 11,941,478 (GRCm39)	D310G	possibly damaging	Het
Phkb	A	G	8: 86,602,286 (GRCm39)	S26G	possibly damaging	Het
Pkd1l2	T	A	8: 117,755,147 (GRCm39)	I1684F	probably damaging	Het
Plod2	T	C	9: 92,488,637 (GRCm39)	V621A	probably benign	Het
Plvap	T	C	8: 71,964,116 (GRCm39)	N82S	probably damaging	Het
Pomgnt2	A	G	9: 121,811,326 (GRCm39)	V485A	probably damaging	Het
Psmd9	A	G	5: 123,366,410 (GRCm39)	E14G	probably benign	Het
Pwwp2b	A	G	7: 138,835,879 (GRCm39)	E440G	probably damaging	Het
Rasgrp1	G	A	2: 117,113,100 (GRCm39)	Q771*	probably null	Het
Rft1	C	T	14: 30,388,744 (GRCm39)	Q223*	probably null	Het
Rgs22	C	A	15: 36,093,047 (GRCm39)	V409F	probably damaging	Het
Rgsl1	G	A	1: 153,701,672 (GRCm39)	P261S	possibly damaging	Het
Rpl7a	A	G	2: 26,801,127 (GRCm39)	N38S	probably damaging	Het
Sh3rf2	T	A	18: 42,187,004 (GRCm39)	F41Y	probably damaging	Het
Spata6	T	A	4: 111,603,388 (GRCm39)	S34R	probably damaging	Het
Sult2a3	A	T	7: 13,856,867 (GRCm39)	Y18N	probably benign	Het
Tapt1	A	G	5: 44,375,444 (GRCm39)		probably null	Het
Tex2	A	T	11: 106,394,466 (GRCm39)	C615S	possibly damaging	Het
Trim43b	T	C	9: 88,969,665 (GRCm39)	K261R	possibly damaging	Het
Unc5c	T	A	3: 141,495,583 (GRCm39)	M484K	probably damaging	Het
Vezf1	T	A	11: 87,964,573 (GRCm39)	S242T	probably damaging	Het
Vmn2r1	A	G	3: 63,997,034 (GRCm39)	Y230C	probably damaging	Het
Vmn2r94	A	G	17: 18,477,965 (GRCm39)	S149P	probably damaging	Het
Wfdc1	T	A	8: 120,393,405 (GRCm39)		probably null	Het
Zfp975	T	C	7: 42,312,236 (GRCm39)	T126A	probably benign	Het
Zmym4	T	C	4: 126,776,105 (GRCm39)		probably null	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
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
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'- TGGGTAAGGGTTCACACACCTCAG -3'
(R):5'- CAATCAGCCAATCGCCATTACGTTC -3'

Sequencing Primer
(F):5'- tcagcatccattttaccaatcag -3'
(R):5'- CGCCATTACGTTCTTATTGAATACC -3'

Posted On

2014-03-28