Incidental Mutation 'R5685:Hyal5'
ID 443276
Institutional Source Beutler Lab
Gene Symbol Hyal5
Ensembl Gene ENSMUSG00000029678
Gene Name hyaluronoglucosaminidase 5
Synonyms 4933439A12Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R5685 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 24857996-24891957 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24876691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 188 (K188R)
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: K188R

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000031689
Gene: ENSMUSG00000029678
AA Change: K188R

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: K188R

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000144011
Gene: ENSMUSG00000029678
AA Change: K188R

DomainStartEndE-ValueType
Pfam:Glyco_hydro_56 42 373 2.6e-142 PFAM
Blast:EGF 375 438 3e-14 BLAST
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 97.0%
  • 20x: 94.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028J19Rik T A 7: 43,879,974 (GRCm39) probably benign Het
Abcb5 A T 12: 118,896,348 (GRCm39) probably null Het
Abcg1 G T 17: 31,317,260 (GRCm39) E191* probably null Het
Als2 A G 1: 59,218,250 (GRCm39) Y1263H possibly damaging Het
Amer2 T A 14: 60,617,026 (GRCm39) L281* probably null Het
Anxa6 T C 11: 54,887,196 (GRCm39) N361D probably benign Het
Ap1g1 A T 8: 110,564,415 (GRCm39) N320I probably damaging Het
Aqr T C 2: 113,986,746 (GRCm39) D208G possibly damaging Het
Arnt2 T C 7: 83,912,473 (GRCm39) T545A probably benign Het
Aspm G A 1: 139,415,026 (GRCm39) V2701I probably benign Het
Atad2 A G 15: 57,980,194 (GRCm39) V106A possibly damaging Het
Bbs2 A C 8: 94,814,061 (GRCm39) F186V probably damaging Het
Catsperg2 G A 7: 29,400,613 (GRCm39) P247L probably damaging Het
Cfap57 G T 4: 118,426,656 (GRCm39) Q1098K probably benign Het
Cxcr6 A G 9: 123,639,811 (GRCm39) T271A probably benign Het
Dock1 A G 7: 134,374,091 (GRCm39) E579G probably benign Het
Frem3 A G 8: 81,421,932 (GRCm39) T2111A probably damaging Het
Galnt1 A T 18: 24,397,586 (GRCm39) D229V possibly damaging Het
Gbp2b A C 3: 142,313,919 (GRCm39) M400L probably benign Het
Gm1123 T A 9: 98,891,486 (GRCm39) probably null Het
Gtpbp6 T C 5: 110,252,805 (GRCm39) H349R probably damaging Het
Insrr T C 3: 87,707,803 (GRCm39) probably null Het
Kcnn1 A T 8: 71,305,374 (GRCm39) C322S probably damaging Het
Kdelr1 GTCTA G 7: 45,531,041 (GRCm39) probably null Het
Kif23 T C 9: 61,852,691 (GRCm39) T8A probably benign Het
Lrrk2 A T 15: 91,687,504 (GRCm39) R2198* probably null Het
Mcl1 T G 3: 95,567,109 (GRCm39) D177E possibly damaging Het
Mrps11 A T 7: 78,441,628 (GRCm39) T137S probably benign Het
Mtbp A G 15: 55,426,168 (GRCm39) Y90C probably damaging Het
Nkpd1 C T 7: 19,257,498 (GRCm39) Q276* probably null Het
Nxt1 G T 2: 148,517,673 (GRCm39) W138L possibly damaging Het
Or5al1 T C 2: 85,990,139 (GRCm39) T192A probably damaging Het
Or5h17 T A 16: 58,820,709 (GRCm39) F220L probably benign Het
Or5t17 T A 2: 86,832,621 (GRCm39) S103T probably benign Het
Osbpl7 C A 11: 96,951,103 (GRCm39) P478H probably damaging Het
Phf8-ps T A 17: 33,285,746 (GRCm39) H352L probably benign Het
Pitpna T A 11: 75,511,095 (GRCm39) F222I probably damaging Het
Plekhh2 A T 17: 84,877,310 (GRCm39) R552W probably damaging Het
Plxnb2 C T 15: 89,051,235 (GRCm39) R328H probably damaging Het
Pmaip1 C T 18: 66,594,055 (GRCm39) T65I probably benign Het
Ppil4 T G 10: 7,674,186 (GRCm39) I110S probably damaging Het
Prpf38a A G 4: 108,427,351 (GRCm39) probably null Het
Psme4 G A 11: 30,759,837 (GRCm39) G320D probably damaging Het
Rab17 C A 1: 90,886,679 (GRCm39) R191L probably benign Het
Rhag A T 17: 41,142,222 (GRCm39) M222L possibly damaging Het
Rims2 A T 15: 39,300,602 (GRCm39) H111L possibly damaging Het
Setx T C 2: 29,061,292 (GRCm39) Y2234H probably damaging Het
Slc2a8 T C 2: 32,871,801 (GRCm39) I51V possibly damaging Het
Slc34a1 T C 13: 55,549,085 (GRCm39) probably null Het
Slf1 T C 13: 77,231,598 (GRCm39) T594A possibly damaging Het
Sox6 A T 7: 115,178,392 (GRCm39) probably null Het
Spata13 C T 14: 60,928,652 (GRCm39) S70L probably benign Het
Stard13 A G 5: 150,986,592 (GRCm39) I188T possibly damaging Het
Stard9 A G 2: 120,535,803 (GRCm39) D4020G probably damaging Het
Tdp1 A G 12: 99,868,611 (GRCm39) K255R possibly damaging Het
Tns2 G T 15: 102,015,538 (GRCm39) A124S probably benign Het
Top2b T A 14: 16,413,666 (GRCm38) W1045R probably damaging Het
Trav12-2 T C 14: 53,854,122 (GRCm39) V32A probably damaging Het
Vps13c G T 9: 67,870,455 (GRCm39) R3198L possibly damaging Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Zfp52 T A 17: 21,782,013 (GRCm39) S620R probably benign Het
Zfp62 T A 11: 49,107,044 (GRCm39) C378* probably null Het
Zfp638 C A 6: 83,906,969 (GRCm39) P378H 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
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
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'- CCAGCTGGTGTCTCTAAAATCTC -3'
(R):5'- AGAGAGCATCATTTCTGTGCTTTTC -3'

Sequencing Primer
(F):5'- GAAGTAGCTAAGACTGACATCTTGC -3'
(R):5'- GTGCTTTTCTATATCAGGGCATTC -3'
Posted On 2016-11-09