Incidental Mutation 'R5058:Hyal5'
ID 391014
Institutional Source Beutler Lab
Gene Symbol Hyal5
Ensembl Gene ENSMUSG00000029678
Gene Name hyaluronoglucosaminidase 5
Synonyms 4933439A12Rik
MMRRC Submission 042648-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R5058 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 24857996-24891957 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24891484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 433 (F433L)
Ref Sequence ENSEMBL: ENSMUSP00000144011 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031689] [ENSMUST00000200968]
AlphaFold Q812F3
Predicted Effect probably damaging
Transcript: ENSMUST00000031689
AA Change: F433L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031689
Gene: ENSMUSG00000029678
AA Change: F433L

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 damaging
Transcript: ENSMUST00000200968
AA Change: F433L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144011
Gene: ENSMUSG00000029678
AA Change: F433L

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 0.4742 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.2%
Validation Efficiency 100% (79/79)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 T C 8: 13,292,625 (GRCm39) Y222C probably damaging Het
Adprs A G 4: 126,212,238 (GRCm39) S94P probably damaging Het
Atp11b A G 3: 35,863,510 (GRCm39) E202G probably benign Het
Cacna1d G T 14: 29,836,201 (GRCm39) S849* probably null Het
Camsap1 T C 2: 25,829,375 (GRCm39) D783G probably benign Het
Cbfa2t2 T A 2: 154,346,665 (GRCm39) I124N probably damaging Het
Ccdc13 A T 9: 121,646,613 (GRCm39) probably benign Het
Cfap44 G A 16: 44,240,567 (GRCm39) probably null Het
Col17a1 C A 19: 47,673,989 (GRCm39) E13* probably null Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dennd6b A G 15: 89,071,553 (GRCm39) L288P possibly damaging Het
Dhx37 A C 5: 125,499,295 (GRCm39) Y638D probably benign Het
Epb41 G A 4: 131,734,746 (GRCm39) probably benign Het
Esp31 A T 17: 38,955,500 (GRCm39) I48L possibly damaging Het
Fat3 T C 9: 15,908,154 (GRCm39) Q2616R probably damaging Het
Fbxo33 A G 12: 59,265,919 (GRCm39) I116T probably benign Het
Flnb G T 14: 7,924,262 (GRCm38) E1792* probably null Het
Fzd2 G A 11: 102,495,633 (GRCm39) G26R probably damaging Het
Gm11677 T A 11: 111,616,264 (GRCm39) noncoding transcript Het
Gm7137 A T 10: 77,623,905 (GRCm39) probably benign Het
Hnrnpr A G 4: 136,063,648 (GRCm39) T252A possibly damaging Het
Kcnmb4 T A 10: 116,299,833 (GRCm39) probably benign Het
Meltf A G 16: 31,706,421 (GRCm39) probably null Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Muc6 T C 7: 141,230,491 (GRCm39) D1213G probably benign Het
Ncam1 A C 9: 49,709,995 (GRCm39) F12C probably benign Het
Nfxl1 A T 5: 72,713,582 (GRCm39) D120E probably benign Het
Nrg1 T C 8: 32,314,587 (GRCm39) Q142R probably damaging Het
Or10c1 A G 17: 37,522,558 (GRCm39) L62P probably damaging Het
Or1j18 T G 2: 36,625,011 (GRCm39) L226R possibly damaging Het
Or2h15 G A 17: 38,441,432 (GRCm39) S217F probably damaging Het
Or56a4 T C 7: 104,806,355 (GRCm39) N178S probably damaging Het
Or5k16 T C 16: 58,736,435 (GRCm39) T190A probably benign Het
Or8c10 C A 9: 38,279,220 (GRCm39) T116K probably damaging Het
Or8g30 C A 9: 39,229,960 (GRCm39) V317L probably benign Het
Or9s18 C A 13: 65,300,743 (GRCm39) A235D possibly damaging Het
Padi2 G T 4: 140,659,432 (GRCm39) V246L probably benign Het
Pgghg C T 7: 140,522,455 (GRCm39) T63I possibly damaging Het
Pitpnm1 A G 19: 4,162,758 (GRCm39) N1117S probably benign Het
Plch1 G T 3: 63,630,202 (GRCm39) T534K probably damaging Het
Poc1a G T 9: 106,227,012 (GRCm39) probably benign Het
Polr3c T C 3: 96,630,833 (GRCm39) I196V probably benign Het
Prph A T 15: 98,953,113 (GRCm39) probably benign Het
Ptprg C A 14: 12,037,387 (GRCm38) T189K possibly damaging Het
R3hcc1 A T 14: 69,941,463 (GRCm39) I183N probably damaging Het
Rundc1 T C 11: 101,316,363 (GRCm39) L145P probably benign Het
Slc26a3 A G 12: 31,520,964 (GRCm39) K723E possibly damaging Het
Slc38a3 T C 9: 107,536,390 (GRCm39) E2G possibly damaging Het
Slc9a5 G T 8: 106,082,490 (GRCm39) V252L probably benign Het
Smim26 C T 2: 144,437,043 (GRCm39) T64M probably benign Het
Socs4 C T 14: 47,527,589 (GRCm39) R175* probably null Het
Srebf2 T C 15: 82,066,251 (GRCm39) S600P probably damaging Het
Tas2r107 A T 6: 131,636,705 (GRCm39) S115T probably damaging Het
Tenm2 T C 11: 36,097,907 (GRCm39) D447G possibly damaging Het
Thbs2 T A 17: 14,896,591 (GRCm39) D766V probably damaging Het
Tinagl1 A G 4: 130,061,250 (GRCm39) V300A probably benign Het
Tle6 T A 10: 81,430,072 (GRCm39) N332I possibly damaging Het
Tle6 C A 10: 81,431,791 (GRCm39) W151L probably damaging Het
Tnfrsf13c C T 15: 82,108,408 (GRCm39) V36M probably damaging Het
Tns2 T C 15: 102,016,295 (GRCm39) I211T possibly damaging Het
Trp63 A G 16: 25,701,344 (GRCm39) N379D probably damaging Het
Trpc2 T C 7: 101,738,316 (GRCm39) W433R probably damaging Het
Tyw1 T A 5: 130,305,927 (GRCm39) L350Q probably benign Het
Usf3 T C 16: 44,033,070 (GRCm39) L76P probably damaging Het
Vmn2r79 T C 7: 86,651,423 (GRCm39) L274P 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
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'- TGTGTAGCCAAACCCTTTGC -3'
(R):5'- ACATCTTTTCTTGGCACACATG -3'

Sequencing Primer
(F):5'- CCAGAATCAAGGCGTGTGTTC -3'
(R):5'- TTGGCACACATGGACTCACTG -3'
Posted On 2016-06-06