Incidental Mutation 'R0517:Hyal6'
ID 48223
Institutional Source Beutler Lab
Gene Symbol Hyal6
Ensembl Gene ENSMUSG00000029679
Gene Name hyaluronoglucosaminidase 6
Synonyms Hyal-ps1, 4932701A20Rik
MMRRC Submission 038710-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R0517 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 24733244-24745451 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24734852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 262 (N262D)
Ref Sequence ENSEMBL: ENSMUSP00000031690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031690]
AlphaFold Q9D4E9
Predicted Effect probably benign
Transcript: ENSMUST00000031690
AA Change: N262D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031690
Gene: ENSMUSG00000029679
AA Change: N262D

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Glyco_hydro_56 30 363 4.8e-136 PFAM
EGF 365 438 6.02e0 SMART
transmembrane domain 457 479 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.1%
Validation Efficiency 100% (62/62)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik T A 17: 37,292,024 (GRCm39) probably benign Het
Acer1 T C 17: 57,262,569 (GRCm39) T194A probably benign Het
Adamts1 C A 16: 85,597,241 (GRCm39) D10Y possibly damaging Het
Adamts7 T C 9: 90,081,911 (GRCm39) V1612A probably benign Het
Adcyap1r1 T A 6: 55,468,282 (GRCm39) S373T probably damaging Het
Asic5 A T 3: 81,916,833 (GRCm39) I266F probably benign Het
Cacna1d A T 14: 29,901,232 (GRCm39) I274K probably damaging Het
Camsap2 G T 1: 136,221,126 (GRCm39) Q238K possibly damaging Het
Ceacam15 A C 7: 16,407,445 (GRCm39) L24* probably null Het
Cerk G A 15: 86,040,849 (GRCm39) T170I probably damaging Het
Cyp27b1 T C 10: 126,885,985 (GRCm39) probably null Het
Cyp2c65 T C 19: 39,070,792 (GRCm39) probably benign Het
Dennd5a A G 7: 109,533,968 (GRCm39) S75P probably damaging Het
Dhx9 C T 1: 153,354,662 (GRCm39) A146T possibly damaging Het
Dpysl5 A G 5: 30,935,410 (GRCm39) D171G probably damaging Het
Dsg3 A G 18: 20,662,082 (GRCm39) N449S probably benign Het
Eps8l3 T C 3: 107,790,776 (GRCm39) S189P probably benign Het
Exph5 A G 9: 53,284,062 (GRCm39) E381G probably benign Het
Fbxo46 A G 7: 18,870,799 (GRCm39) M473V possibly damaging Het
Fgf14 G A 14: 124,221,196 (GRCm39) P203S probably damaging Het
Foxf2 C T 13: 31,810,226 (GRCm39) A55V unknown Het
Galnt5 T G 2: 57,925,385 (GRCm39) probably benign Het
Glis2 T C 16: 4,429,416 (GRCm39) L181P probably damaging Het
Gm10000 T G 12: 104,442,667 (GRCm39) probably benign Het
Helz2 A G 2: 180,869,563 (GRCm39) S2959P probably benign Het
Lgr4 T C 2: 109,841,665 (GRCm39) L526P probably damaging Het
Mapk1 A T 16: 16,833,910 (GRCm39) I88F probably benign Het
Mpg A T 11: 32,181,853 (GRCm39) H287L probably benign Het
Mpp4 A T 1: 59,163,886 (GRCm39) Y489* probably null Het
Mpzl1 T C 1: 165,429,359 (GRCm39) E224G probably damaging Het
Myh10 A G 11: 68,702,425 (GRCm39) probably null Het
Odad2 A C 18: 7,223,621 (GRCm39) L474R probably damaging Het
Or13p8 T A 4: 118,583,831 (GRCm39) I129K probably damaging Het
Or5m9 T C 2: 85,877,548 (GRCm39) S241P probably damaging Het
Paip1 T A 13: 119,584,326 (GRCm39) F196I probably damaging Het
Pde3a A T 6: 141,444,383 (GRCm39) K1064* probably null Het
Pira2 A T 7: 3,847,196 (GRCm39) probably benign Het
Pros1 A G 16: 62,723,881 (GRCm39) S210G probably benign Het
Rbm15 A T 3: 107,238,685 (GRCm39) L571Q probably damaging Het
Scn1a T A 2: 66,132,751 (GRCm39) T1194S possibly damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Serpina1e G A 12: 103,915,486 (GRCm39) T240I probably benign Het
Setx T G 2: 29,047,145 (GRCm39) S1874R probably benign Het
Sgsm2 G T 11: 74,758,477 (GRCm39) T256K possibly damaging Het
Slc44a1 T C 4: 53,542,366 (GRCm39) V300A probably damaging Het
Spata46 A G 1: 170,139,178 (GRCm39) Y59C probably damaging Het
Supt3 T C 17: 45,430,158 (GRCm39) F404L probably benign Het
Tars1 T A 15: 11,394,452 (GRCm39) K62* probably null Het
Tas2r139 A C 6: 42,118,425 (GRCm39) T186P probably damaging Het
Tasor2 T A 13: 3,616,964 (GRCm39) T2367S possibly damaging Het
Tc2n C T 12: 101,615,454 (GRCm39) S457N probably damaging Het
Tox4 A T 14: 52,530,085 (GRCm39) S582C probably benign Het
Trappc12 T C 12: 28,747,133 (GRCm39) probably benign Het
Ubqlnl G T 7: 103,797,845 (GRCm39) Q551K probably damaging Het
Ubr4 A G 4: 139,119,435 (GRCm39) T205A probably benign Het
Urb1 G A 16: 90,574,310 (GRCm39) Q924* probably null Het
Vmn1r49 A G 6: 90,049,720 (GRCm39) L94P probably damaging Het
Vmn2r120 T C 17: 57,815,949 (GRCm39) Y802C probably damaging Het
Xrcc1 C T 7: 24,269,744 (GRCm39) probably benign Het
Other mutations in Hyal6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01351:Hyal6 APN 6 24,734,178 (GRCm39) missense probably damaging 1.00
IGL02269:Hyal6 APN 6 24,740,858 (GRCm39) missense probably damaging 0.97
IGL02729:Hyal6 APN 6 24,734,694 (GRCm39) missense probably damaging 1.00
IGL02793:Hyal6 APN 6 24,734,378 (GRCm39) nonsense probably null
IGL02943:Hyal6 APN 6 24,743,438 (GRCm39) missense probably damaging 0.99
IGL03351:Hyal6 APN 6 24,743,428 (GRCm39) missense probably damaging 1.00
R0481:Hyal6 UTSW 6 24,743,417 (GRCm39) missense probably damaging 1.00
R0853:Hyal6 UTSW 6 24,734,072 (GRCm39) missense probably benign
R1182:Hyal6 UTSW 6 24,743,416 (GRCm39) missense probably damaging 1.00
R1401:Hyal6 UTSW 6 24,743,434 (GRCm39) missense probably damaging 1.00
R1780:Hyal6 UTSW 6 24,734,031 (GRCm39) splice site probably benign
R1858:Hyal6 UTSW 6 24,740,857 (GRCm39) missense probably benign 0.01
R2011:Hyal6 UTSW 6 24,734,723 (GRCm39) missense possibly damaging 0.69
R3441:Hyal6 UTSW 6 24,734,592 (GRCm39) missense probably benign
R4819:Hyal6 UTSW 6 24,734,965 (GRCm39) nonsense probably null
R5357:Hyal6 UTSW 6 24,734,517 (GRCm39) missense probably benign 0.05
R5648:Hyal6 UTSW 6 24,734,235 (GRCm39) missense possibly damaging 0.61
R5717:Hyal6 UTSW 6 24,743,690 (GRCm39) missense probably benign 0.15
R5884:Hyal6 UTSW 6 24,743,368 (GRCm39) missense probably damaging 1.00
R6657:Hyal6 UTSW 6 24,734,757 (GRCm39) missense possibly damaging 0.61
R6826:Hyal6 UTSW 6 24,734,371 (GRCm39) missense probably damaging 1.00
R7178:Hyal6 UTSW 6 24,734,834 (GRCm39) missense probably benign 0.28
R7531:Hyal6 UTSW 6 24,740,786 (GRCm39) missense possibly damaging 0.46
R7630:Hyal6 UTSW 6 24,734,583 (GRCm39) missense probably damaging 1.00
R7787:Hyal6 UTSW 6 24,743,735 (GRCm39) missense probably damaging 0.99
R7851:Hyal6 UTSW 6 24,734,497 (GRCm39) missense probably benign 0.05
R8132:Hyal6 UTSW 6 24,740,827 (GRCm39) missense possibly damaging 0.80
R8200:Hyal6 UTSW 6 24,734,565 (GRCm39) missense probably benign 0.01
R8294:Hyal6 UTSW 6 24,734,378 (GRCm39) missense possibly damaging 0.53
R8300:Hyal6 UTSW 6 24,734,087 (GRCm39) missense probably benign
R8509:Hyal6 UTSW 6 24,734,605 (GRCm39) missense probably damaging 1.00
R8705:Hyal6 UTSW 6 24,734,673 (GRCm39) missense probably benign 0.01
R8917:Hyal6 UTSW 6 24,734,103 (GRCm39) missense possibly damaging 0.96
R9133:Hyal6 UTSW 6 24,734,585 (GRCm39) missense possibly damaging 0.61
R9149:Hyal6 UTSW 6 24,734,151 (GRCm39) missense probably benign 0.02
R9325:Hyal6 UTSW 6 24,743,455 (GRCm39) missense probably damaging 1.00
R9515:Hyal6 UTSW 6 24,734,929 (GRCm39) nonsense probably null
X0019:Hyal6 UTSW 6 24,734,666 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTGACTGGGCAGAAACAAAAGTG -3'
(R):5'- TGGAAAACCGCCAGAACCCTTATG -3'

Sequencing Primer
(F):5'- CACGTTGGCTTTAGAAATGAGACC -3'
(R):5'- AGCATGTCTAATCAGTTGTTTGG -3'
Posted On 2013-06-12