Incidental Mutation 'R4642:Hyal5'
ID 351677
Institutional Source Beutler Lab
Gene Symbol Hyal5
Ensembl Gene ENSMUSG00000029678
Gene Name hyaluronoglucosaminidase 5
Synonyms 4933439A12Rik
MMRRC Submission 041904-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R4642 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 24857996-24891957 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24876621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 165 (N165D)
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: N165D

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000031689
Gene: ENSMUSG00000029678
AA Change: N165D

DomainStartEndE-ValueType
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: N165D

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000144011
Gene: ENSMUSG00000029678
AA Change: N165D

DomainStartEndE-ValueType
Pfam:Glyco_hydro_56 42 373 2.6e-142 PFAM
Blast:EGF 375 438 3e-14 BLAST
Meta Mutation Damage Score 0.1982 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 96% (46/48)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abce1 T C 8: 80,415,982 (GRCm39) T387A probably damaging Het
Acaca A T 11: 84,171,287 (GRCm39) T3S probably damaging Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Cacna1g A G 11: 94,308,920 (GRCm39) I1631T probably damaging Het
Camk1g T A 1: 193,038,667 (GRCm39) D85V probably damaging Het
Caskin1 G A 17: 24,725,602 (GRCm39) S1296N probably benign Het
Ccbe1 A T 18: 66,424,654 (GRCm39) probably benign Het
Ccdc184 T G 15: 98,066,537 (GRCm39) V114G probably benign Het
Cpxm2 C T 7: 131,672,610 (GRCm39) R313H probably benign Het
Crebrf G T 17: 26,962,035 (GRCm39) E377D probably benign Het
Dcstamp T C 15: 39,618,118 (GRCm39) F176L probably benign Het
Dnah2 T C 11: 69,387,385 (GRCm39) D947G probably benign Het
Erbb4 A G 1: 68,289,791 (GRCm39) I750T probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gm16391 T G 17: 76,591,826 (GRCm39) noncoding transcript Het
Gm973 A T 1: 59,597,273 (GRCm39) E434D probably damaging Het
Hdac7 T C 15: 97,704,397 (GRCm39) E491G probably damaging Het
Ly86 A T 13: 37,560,877 (GRCm39) R79S possibly damaging Het
Mapk7 A G 11: 61,381,727 (GRCm39) I13T probably damaging Het
Medag T A 5: 149,335,444 (GRCm39) M1K probably null Het
Myh9 T C 15: 77,646,151 (GRCm39) D1944G probably benign Het
Nadk2 T C 15: 9,092,810 (GRCm39) W206R possibly damaging Het
Or7g18 T A 9: 18,787,463 (GRCm39) M280K probably damaging Het
Pcdhb11 T A 18: 37,555,021 (GRCm39) F117Y probably benign Het
Pdzd8 C T 19: 59,293,662 (GRCm39) E396K probably damaging Het
Piezo1 T A 8: 123,222,193 (GRCm39) Y541F probably damaging Het
Polr3h T C 15: 81,806,667 (GRCm39) I51V probably benign Het
Prune2 T C 19: 16,998,019 (GRCm39) probably null Het
Pyroxd1 C G 6: 142,300,467 (GRCm39) S199* probably null Het
Rars2 T G 4: 34,656,229 (GRCm39) V461G probably damaging Het
Rasgrp3 T C 17: 75,805,443 (GRCm39) C145R possibly damaging Het
Ryr1 T C 7: 28,785,463 (GRCm39) T1743A possibly damaging Het
Sac3d1 G A 19: 6,166,434 (GRCm39) A325V possibly damaging Het
Shank1 A T 7: 43,962,565 (GRCm39) D93V unknown Het
Smg1 T C 7: 117,753,487 (GRCm39) probably benign Het
Tbl1xr1 A T 3: 22,242,584 (GRCm39) N38I probably damaging Het
Ufc1 A G 1: 171,117,467 (GRCm39) I82T probably benign Het
Uggt2 A T 14: 119,272,347 (GRCm39) M434K probably benign Het
Unc80 G A 1: 66,710,873 (GRCm39) probably null Het
Zan T A 5: 137,462,450 (GRCm39) T910S unknown Het
Zfp64 A G 2: 168,776,851 (GRCm39) C256R probably benign 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
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'- GTGATCGTCTGGGTCTCTATCC -3'
(R):5'- GGGCATTCTCCTTTGTAATCAGC -3'

Sequencing Primer
(F):5'- GGGTCTCTATCCTTACATAGATGAC -3'
(R):5'- ATTCTCCTTTGTAATCAGCAACTTG -3'
Posted On 2015-10-08