Incidental Mutation 'R5161:Hyal5'
ID 396989
Institutional Source Beutler Lab
Gene Symbol Hyal5
Ensembl Gene ENSMUSG00000029678
Gene Name hyaluronoglucosaminidase 5
Synonyms 4933439A12Rik
MMRRC Submission 042743-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R5161 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 24857996-24891957 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24891602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 472 (D472V)
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: D472V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000031689
Gene: ENSMUSG00000029678
AA Change: D472V

DomainStartEndE-ValueType
Pfam:Glyco_hydro_56 42 373 2.6e-142 PFAM
Blast:EGF 375 438 3e-14 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104008
Predicted Effect probably benign
Transcript: ENSMUST00000200968
AA Change: D472V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000144011
Gene: ENSMUSG00000029678
AA Change: D472V

DomainStartEndE-ValueType
Pfam:Glyco_hydro_56 42 373 2.6e-142 PFAM
Blast:EGF 375 438 3e-14 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201585
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (56/57)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,055,344 (GRCm39) E27* probably null Het
4930407I10Rik G T 15: 81,947,542 (GRCm39) E480* probably null Het
Acad11 T C 9: 104,001,227 (GRCm39) I591T probably benign Het
Acsbg3 A T 17: 57,189,888 (GRCm39) I305F possibly damaging Het
Adamts13 G A 2: 26,883,020 (GRCm39) E857K probably benign Het
Atf2 A C 2: 73,660,134 (GRCm39) probably null Het
Cass4 C A 2: 172,274,244 (GRCm39) A675E probably damaging Het
Coa8 C A 12: 111,689,208 (GRCm39) Q97K possibly damaging Het
Ctsd A T 7: 141,930,881 (GRCm39) L283Q probably damaging Het
Ddrgk1 A T 2: 130,505,296 (GRCm39) M1K probably null Het
Dipk1b C T 2: 26,526,260 (GRCm39) T398M possibly damaging Het
Dock1 G A 7: 134,335,791 (GRCm39) A62T possibly damaging Het
Ehmt1 T C 2: 24,748,207 (GRCm39) D407G possibly damaging Het
Eif1ad17 T A 12: 87,978,887 (GRCm39) D90E possibly damaging Het
Eml6 A G 11: 29,974,467 (GRCm39) V37A probably damaging Het
Fam20a C T 11: 109,564,196 (GRCm39) R519Q probably benign Het
Fat1 A G 8: 45,405,549 (GRCm39) T767A probably benign Het
Fbxl8 A T 8: 105,995,538 (GRCm39) H350L possibly damaging Het
Gm10226 A C 17: 21,910,834 (GRCm39) Q23P possibly damaging Het
Gm38706 A T 6: 130,459,868 (GRCm39) noncoding transcript Het
Gpatch2l G T 12: 86,313,950 (GRCm39) R362L probably benign Het
Ighv5-9-1 T C 12: 113,699,777 (GRCm39) S102G possibly damaging Het
Itpripl1 A C 2: 126,983,777 (GRCm39) L115R probably damaging Het
Itsn1 G A 16: 91,705,726 (GRCm39) C169Y possibly damaging Het
Krt88 T A 15: 101,348,349 (GRCm39) C12S probably benign Het
Macroh2a1 T C 13: 56,237,594 (GRCm39) D222G probably benign Het
Muc4 G A 16: 32,582,895 (GRCm39) V2557M probably damaging Het
Myh7b G C 2: 155,474,293 (GRCm39) R1669S possibly damaging Het
Nbeal2 G T 9: 110,458,936 (GRCm39) Q1996K probably benign Het
Obscn T C 11: 58,919,430 (GRCm39) E6205G probably damaging Het
Obscn A G 11: 58,955,136 (GRCm39) Y3926H possibly damaging Het
Or14a259 T C 7: 86,013,546 (GRCm39) probably null Het
Or5an10 A T 19: 12,276,153 (GRCm39) S114R probably damaging Het
P2ry2 A T 7: 100,648,136 (GRCm39) Y56* probably null Het
Pate10 T A 9: 35,652,884 (GRCm39) L42* probably null Het
Pde1a T C 2: 79,708,488 (GRCm39) N242S probably null Het
Pik3cg C T 12: 32,254,977 (GRCm39) E337K possibly damaging Het
Plxna2 A G 1: 194,433,712 (GRCm39) N587S probably benign Het
Pmpca T C 2: 26,285,183 (GRCm39) probably null Het
Ptpn4 C T 1: 119,635,593 (GRCm39) W370* probably null Het
Qki A T 17: 10,434,419 (GRCm39) probably null Het
Rapgef3 A G 15: 97,655,606 (GRCm39) V427A probably damaging Het
Rbbp8 T G 18: 11,855,171 (GRCm39) D465E probably damaging Het
Scn2a A G 2: 65,594,935 (GRCm39) K1928R probably benign Het
Slc5a5 A C 8: 71,341,492 (GRCm39) C346G probably damaging Het
Spata2l A G 8: 123,962,288 (GRCm39) L91P probably damaging Het
Syt3 C A 7: 44,045,439 (GRCm39) H560N possibly damaging Het
Timm23 G A 14: 31,915,882 (GRCm39) P63L probably damaging Het
Tmem191 T C 16: 17,094,743 (GRCm39) S108P possibly damaging Het
Ttc21b A G 2: 66,059,367 (GRCm39) C545R probably damaging Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Usp17ld A T 7: 102,899,579 (GRCm39) L451* probably null Het
Vmn1r15 T C 6: 57,235,497 (GRCm39) Y122H probably benign Het
Vxn G T 1: 9,692,902 (GRCm39) G145* probably null Het
Zfp1002 A T 2: 150,097,135 (GRCm39) I98K probably damaging Het
Other mutations in Hyal5
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ATGAAATCCGTGGCAATCCC -3'
(R):5'- CCCTGAAAGTATGACAGCCTTAC -3'

Sequencing Primer
(F):5'- TGGCAATCCCACCCTTGAG -3'
(R):5'- GAAAGTATGACAGCCTTACAATCAG -3'
Posted On 2016-06-21