Incidental Mutation 'R0853:Hyal6'
ID 82610
Institutional Source Beutler Lab
Gene Symbol Hyal6
Ensembl Gene ENSMUSG00000029679
Gene Name hyaluronoglucosaminidase 6
Synonyms Hyal-ps1, 4932701A20Rik
MMRRC Submission 039032-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R0853 (G1)
Quality Score 187
Status Validated
Chromosome 6
Chromosomal Location 24733244-24745451 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24734072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 2 (F2L)
Ref Sequence ENSEMBL: ENSMUSP00000031690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031690]
AlphaFold Q9D4E9
Predicted Effect probably benign
Transcript: ENSMUST00000031690
AA Change: F2L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031690
Gene: ENSMUSG00000029679
AA Change: F2L

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 93.9%
Validation Efficiency 93% (42/45)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amotl1 G T 9: 14,504,074 (GRCm39) P378Q probably damaging Het
Angpt4 A G 2: 151,780,847 (GRCm39) E365G probably damaging Het
Asb6 G A 2: 30,717,042 (GRCm39) P61L possibly damaging Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
Atxn7 C A 14: 14,089,465 (GRCm38) probably benign Het
Cacul1 A T 19: 60,522,664 (GRCm39) I290N probably damaging Het
Ccser2 A C 14: 36,662,367 (GRCm39) S272R probably benign Het
Cfh T A 1: 140,033,228 (GRCm39) H772L probably damaging Het
Cldn6 T G 17: 23,900,438 (GRCm39) I134S probably damaging Het
Col3a1 T A 1: 45,382,484 (GRCm39) probably benign Het
Fam118a T C 15: 84,932,726 (GRCm39) F156S possibly damaging Het
Fgd4 T A 16: 16,292,251 (GRCm39) probably benign Het
Gckr G C 5: 31,462,392 (GRCm39) A242P probably damaging Het
Gcnt4 A G 13: 97,083,343 (GRCm39) D213G probably damaging Het
Hace1 T A 10: 45,524,779 (GRCm39) V237E probably damaging Het
Herc3 T C 6: 58,853,549 (GRCm39) L570P probably damaging Het
Hk1 T A 10: 62,107,495 (GRCm39) K827* probably null Het
Jak2 C A 19: 29,262,326 (GRCm39) Y382* probably null Het
Kat8 C T 7: 127,524,396 (GRCm39) H425Y probably benign Het
Kcnj3 T C 2: 55,327,235 (GRCm39) F8S possibly damaging Het
Klk1 T A 7: 43,870,922 (GRCm39) probably benign Het
Klra8 T C 6: 130,095,977 (GRCm39) Y205C probably damaging Het
Kpnb1 T C 11: 97,078,237 (GRCm39) E26G probably damaging Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Naip2 T C 13: 100,298,362 (GRCm39) E558G probably benign Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Nphp3 T C 9: 103,909,132 (GRCm39) S781P probably benign Het
Nqo2 A T 13: 34,163,560 (GRCm39) H73L probably benign Het
P3h3 G T 6: 124,831,896 (GRCm39) D296E probably benign Het
Pah G A 10: 87,412,080 (GRCm39) probably null Het
Pcdhb4 T G 18: 37,442,938 (GRCm39) Y749* probably null Het
Pdgfrb C A 18: 61,213,399 (GRCm39) N914K probably damaging Het
Ralyl A G 3: 14,011,566 (GRCm39) Y4C probably damaging Het
Rapgef6 T A 11: 54,559,503 (GRCm39) I1052N probably damaging Het
Sdk2 G A 11: 113,712,241 (GRCm39) T1642I probably benign Het
Siglec1 G A 2: 130,926,942 (GRCm39) T207M probably damaging Het
Taf1b T C 12: 24,564,827 (GRCm39) L148P probably benign Het
Tbx20 A G 9: 24,636,908 (GRCm39) M393T probably benign Het
Tdp1 G A 12: 99,901,326 (GRCm39) R536H probably damaging Het
Tubgcp5 T A 7: 55,464,599 (GRCm39) probably benign Het
Vezf1 A T 11: 88,068,435 (GRCm38) probably benign Het
Vmn1r58 G T 7: 5,413,324 (GRCm39) T302K probably damaging Het
Zfp1002 A T 2: 150,097,398 (GRCm39) S38R 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
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'- TGCACAGATGAACACAGCATTTGC -3'
(R):5'- TTCCGATCTCCACAAAGTGACAGC -3'

Sequencing Primer
(F):5'- GTCTCCATCAACATTTCAAGGG -3'
(R):5'- GACAGCATCTGCAATGTCG -3'
Posted On 2013-11-08