Incidental Mutation 'R3441:Hyal6'
ID 267376
Institutional Source Beutler Lab
Gene Symbol Hyal6
Ensembl Gene ENSMUSG00000029679
Gene Name hyaluronoglucosaminidase 6
Synonyms Hyal-ps1, 4932701A20Rik
MMRRC Submission 040659-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R3441 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 24733244-24745451 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24734592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 175 (A175V)
Ref Sequence ENSEMBL: ENSMUSP00000031690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031690]
AlphaFold Q9D4E9
Predicted Effect probably benign
Transcript: ENSMUST00000031690
AA Change: A175V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031690
Gene: ENSMUSG00000029679
AA Change: A175V

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (34/35)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T C 8: 25,170,759 (GRCm39) probably benign Het
Ap5b1 A G 19: 5,620,011 (GRCm39) H477R probably benign Het
Asz1 A C 6: 18,108,405 (GRCm39) S68A probably benign Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Btnl6 T C 17: 34,727,292 (GRCm39) K413E probably benign Het
Cav3 G A 6: 112,449,402 (GRCm39) C140Y possibly damaging Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cfap91 T C 16: 38,154,168 (GRCm39) M126V probably benign Het
Clrn3 A C 7: 135,115,854 (GRCm39) Y165* probably null Het
Cp A T 3: 20,029,121 (GRCm39) M533L probably benign Het
Cyba C T 8: 123,151,803 (GRCm39) W103* probably null Het
Epha4 G T 1: 77,403,333 (GRCm39) N95K possibly damaging Het
Fsip2 A G 2: 82,817,071 (GRCm39) N4268S probably benign Het
Glb1l2 C T 9: 26,692,038 (GRCm39) A74T probably damaging Het
Gtf3c6 T A 10: 40,127,169 (GRCm39) E123V probably null Het
Htr3b T C 9: 48,856,815 (GRCm39) D221G probably benign Het
Kif1a C T 1: 92,964,575 (GRCm39) D1334N possibly damaging Het
Krtap24-1 T C 16: 88,408,713 (GRCm39) T138A probably damaging Het
Mrc2 A T 11: 105,238,542 (GRCm39) T1230S possibly damaging Het
Mx1 T A 16: 97,257,431 (GRCm39) I109F probably damaging Het
Nav3 A G 10: 109,540,789 (GRCm39) F1947S probably benign Het
Or12e1 A G 2: 87,022,162 (GRCm39) I44V probably benign Het
Or6k2 A T 1: 173,986,746 (GRCm39) M136L probably benign Het
Plxnc1 G A 10: 94,706,872 (GRCm39) T555I probably benign Het
Rab21 CCCGCCGCCGCCGCCGCC CCCGCCGCCGCCGCC 10: 115,151,214 (GRCm39) probably benign Het
Rag2 T A 2: 101,460,645 (GRCm39) F318L probably damaging Het
Scgb2b24 G T 7: 33,438,025 (GRCm39) F27L probably damaging Het
Tchh A T 3: 93,352,414 (GRCm39) D618V unknown Het
Teddm1b A G 1: 153,751,007 (GRCm39) E272G probably benign Het
Tenm4 A T 7: 96,202,723 (GRCm39) M88L probably benign Het
Tfpi2 A T 6: 3,965,504 (GRCm39) Y103N probably benign Het
Tmem98 A G 11: 80,705,125 (GRCm39) N71S probably damaging Het
Vmn1r181 A G 7: 23,684,308 (GRCm39) I258V 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
R0517:Hyal6 UTSW 6 24,734,852 (GRCm39) missense probably benign
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
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'- GTGGAATACCTCAGAAAGTGAACC -3'
(R):5'- TCATCATCTGGGCAACTTCCTG -3'

Sequencing Primer
(F):5'- TCAGAAAGTGAACCTCTCTGAG -3'
(R):5'- ATCTGGGCAACTTCCTGTGTAGAAC -3'
Posted On 2015-02-18