Incidental Mutation 'IGL02975:Hyal5'
ID406324
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hyal5
Ensembl Gene ENSMUSG00000029678
Gene Namehyaluronoglucosaminidase 5
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL02975
Quality Score
Status
Chromosome6
Chromosomal Location24857997-24891958 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 24891452 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 422 (T422A)
Ref Sequence ENSEMBL: ENSMUSP00000144011 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031689] [ENSMUST00000200968]
Predicted Effect probably benign
Transcript: ENSMUST00000031689
AA Change: T422A

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031689
Gene: ENSMUSG00000029678
AA Change: T422A

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: T422A

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144011
Gene: ENSMUSG00000029678
AA Change: T422A

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
Coding Region Coverage
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,233,925 D326G possibly damaging Het
Ago4 C T 4: 126,512,519 probably null Het
Ank A G 15: 27,467,001 probably benign Het
Ankmy2 C A 12: 36,193,774 S329R possibly damaging Het
Aox1 A G 1: 58,068,391 E608G probably damaging Het
Btbd11 A G 10: 85,631,343 I721V probably benign Het
Car1 G A 3: 14,777,822 L48F probably benign Het
Cct8 A G 16: 87,486,230 probably benign Het
Clasp1 A T 1: 118,462,547 T154S probably damaging Het
Clca4a A C 3: 144,963,769 I340M possibly damaging Het
Cnksr3 C T 10: 7,138,354 probably null Het
Cntrob T C 11: 69,319,373 T265A possibly damaging Het
Ddx5 T C 11: 106,781,885 I605V probably benign Het
Eif3i A G 4: 129,595,312 Y70H probably damaging Het
Epb41l5 T C 1: 119,579,081 probably benign Het
Fah A T 7: 84,601,079 S90T probably benign Het
Fat2 T A 11: 55,270,194 M3237L probably benign Het
Fbxw8 A G 5: 118,077,695 Y417H probably benign Het
Fmnl2 C A 2: 53,101,482 F336L probably benign Het
Gli3 A G 13: 15,724,568 R847G probably damaging Het
Gm17509 T C 13: 117,220,772 probably benign Het
Gm4846 T A 1: 166,483,880 Y470F possibly damaging Het
Gm7461 T C 8: 4,677,847 noncoding transcript Het
Gpatch4 A T 3: 88,054,436 N134I possibly damaging Het
Grina A G 15: 76,248,985 Y251C probably damaging Het
Gsn A G 2: 35,304,654 D654G probably benign Het
Iars T A 13: 49,704,849 I377N probably damaging Het
Ints3 A T 3: 90,401,837 probably benign Het
Kdm4b G A 17: 56,375,996 probably null Het
Kyat1 A G 2: 30,186,675 S276P probably damaging Het
Lrrc1 A G 9: 77,452,647 C288R probably damaging Het
Mst1r T A 9: 107,913,180 M664K probably benign Het
Neb A T 2: 52,298,867 I817N probably damaging Het
Nudt6 C A 3: 37,419,518 G18V probably damaging Het
Olfr1302 T A 2: 111,780,921 Y200* probably null Het
Olfr517 G A 7: 108,868,855 Q100* probably null Het
Olfr57 T C 10: 79,035,033 V79A possibly damaging Het
Pde1c A G 6: 56,158,936 I341T probably damaging Het
Pgm5 T C 19: 24,834,848 I107V probably benign Het
Pot1b G A 17: 55,662,454 probably benign Het
Prkca C T 11: 108,340,677 W58* probably null Het
Slc12a9 T C 5: 137,322,443 K555R probably damaging Het
Smoc2 A T 17: 14,336,610 Q107L probably damaging Het
Sytl1 T A 4: 133,261,032 R4S probably benign Het
Tbc1d4 A G 14: 101,458,113 L963P probably damaging Het
Tfdp2 G A 9: 96,317,936 probably benign Het
Tmem63a A T 1: 180,961,075 M326L probably benign Het
Vmn2r66 A G 7: 85,006,974 L278P probably damaging Het
Wtap A G 17: 12,983,511 V11A possibly damaging Het
Zcchc9 A T 13: 91,806,053 S28T possibly damaging Het
Zfp12 C T 5: 143,244,059 probably benign Het
Other mutations in Hyal5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Hyal5 APN 6 24876481 missense possibly damaging 0.92
IGL01407:Hyal5 APN 6 24876407 missense probably benign 0.08
IGL01799:Hyal5 APN 6 24891337 missense probably benign 0.09
IGL02070:Hyal5 APN 6 24876962 missense probably damaging 1.00
IGL02087:Hyal5 APN 6 24876725 missense probably damaging 1.00
IGL02188:Hyal5 APN 6 24877036 missense probably damaging 1.00
IGL02321:Hyal5 APN 6 24891615 missense probably benign 0.01
IGL03299:Hyal5 APN 6 24877882 missense probably damaging 1.00
R0239:Hyal5 UTSW 6 24876344 missense probably damaging 1.00
R0239:Hyal5 UTSW 6 24876344 missense probably damaging 1.00
R0499:Hyal5 UTSW 6 24877921 missense probably damaging 1.00
R1491:Hyal5 UTSW 6 24877903 missense probably benign 0.00
R1575:Hyal5 UTSW 6 24876793 missense probably damaging 1.00
R1967:Hyal5 UTSW 6 24876194 missense possibly damaging 0.68
R2182:Hyal5 UTSW 6 24877880 missense probably damaging 1.00
R3801:Hyal5 UTSW 6 24876524 missense probably benign 0.44
R3877:Hyal5 UTSW 6 24876631 missense probably damaging 1.00
R4642:Hyal5 UTSW 6 24876622 missense probably benign 0.01
R4826:Hyal5 UTSW 6 24891576 missense possibly damaging 0.82
R5058:Hyal5 UTSW 6 24891485 missense probably damaging 1.00
R5161:Hyal5 UTSW 6 24891603 missense probably benign 0.00
R5249:Hyal5 UTSW 6 24876649 nonsense probably null
R5459:Hyal5 UTSW 6 24891251 missense probably damaging 0.98
R5685:Hyal5 UTSW 6 24876692 missense probably benign 0.39
R5741:Hyal5 UTSW 6 24876495 missense probably damaging 1.00
R5849:Hyal5 UTSW 6 24891556 missense probably benign 0.00
R6156:Hyal5 UTSW 6 24891438 missense possibly damaging 0.92
R6351:Hyal5 UTSW 6 24891709 splice site probably null
R6573:Hyal5 UTSW 6 24891552 missense probably damaging 0.96
R6949:Hyal5 UTSW 6 24876304 missense probably benign 0.00
R6966:Hyal5 UTSW 6 24891292 missense probably damaging 1.00
R7148:Hyal5 UTSW 6 24876902 missense probably damaging 1.00
R7422:Hyal5 UTSW 6 24875984 start gained probably benign
R7836:Hyal5 UTSW 6 24891348 missense probably damaging 1.00
R8062:Hyal5 UTSW 6 24876197 missense possibly damaging 0.73
R8127:Hyal5 UTSW 6 24891488 missense probably benign 0.05
R8220:Hyal5 UTSW 6 24876880 missense probably benign 0.00
X0061:Hyal5 UTSW 6 24876973 missense possibly damaging 0.95
Posted On2016-08-02