Incidental Mutation 'R5648:Hyal6'
ID 441264
Institutional Source Beutler Lab
Gene Symbol Hyal6
Ensembl Gene ENSMUSG00000029679
Gene Name hyaluronoglucosaminidase 6
Synonyms Hyal-ps1, 4932701A20Rik
MMRRC Submission 043169-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R5648 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 24733244-24745451 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24734235 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 56 (M56T)
Ref Sequence ENSEMBL: ENSMUSP00000031690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031690]
AlphaFold Q9D4E9
Predicted Effect possibly damaging
Transcript: ENSMUST00000031690
AA Change: M56T

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000031690
Gene: ENSMUSG00000029679
AA Change: M56T

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T C 2: 25,326,510 (GRCm39) probably null Het
Alpk2 A G 18: 65,482,988 (GRCm39) V340A probably damaging Het
Cald1 G T 6: 34,739,267 (GRCm39) probably null Het
Col24a1 C T 3: 145,064,321 (GRCm39) T702I probably benign Het
Ddx50 T C 10: 62,452,049 (GRCm39) R725G unknown Het
Dnah9 A T 11: 65,818,581 (GRCm39) F68L probably benign Het
Dnmt3b G A 2: 153,519,118 (GRCm39) V651M probably damaging Het
Dock1 G A 7: 134,348,683 (GRCm39) C299Y probably damaging Het
Epha4 T C 1: 77,375,162 (GRCm39) I562V probably benign Het
Esco2 A T 14: 66,068,641 (GRCm39) V223D probably damaging Het
Ggt6 T C 11: 72,326,542 (GRCm39) I33T possibly damaging Het
Gm10392 A T 11: 77,408,306 (GRCm39) D104E probably benign Het
Gm9847 A G 12: 14,545,130 (GRCm39) noncoding transcript Het
Gnao1 A T 8: 94,676,070 (GRCm39) Y116F probably damaging Het
Gvin1 A T 7: 105,762,606 (GRCm39) I621K possibly damaging Het
Hyou1 T A 9: 44,296,546 (GRCm39) D490E probably damaging Het
Igsf10 G C 3: 59,235,574 (GRCm39) Q1536E probably benign Het
Klk1b8 T C 7: 43,448,068 (GRCm39) S31P possibly damaging Het
Map3k6 A C 4: 132,970,646 (GRCm39) I178L probably benign Het
Mycbp2 T A 14: 103,528,778 (GRCm39) N427Y probably damaging Het
Ncr1 T A 7: 4,347,519 (GRCm39) I228N probably damaging Het
Nefh A T 11: 4,895,233 (GRCm39) Y319N probably damaging Het
Or4a80 A C 2: 89,582,417 (GRCm39) C252G probably damaging Het
Pakap T C 4: 57,854,848 (GRCm39) V120A probably damaging Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Pkhd1 T A 1: 20,628,850 (GRCm39) Y699F probably benign Het
Plekhd1 T C 12: 80,767,362 (GRCm39) L250P probably damaging Het
Reln A G 5: 22,203,570 (GRCm39) V1228A probably benign Het
Rhobtb2 G T 14: 70,034,593 (GRCm39) R211S probably damaging Het
Rps6kb1 T C 11: 86,403,697 (GRCm39) I305V possibly damaging Het
Slc12a2 G A 18: 58,029,382 (GRCm39) G256E possibly damaging Het
Slc4a1ap A G 5: 31,708,129 (GRCm39) probably null Het
Thoc1 A G 18: 9,962,390 (GRCm39) T92A possibly damaging Het
Ticam1 TCACACA TCACA 17: 56,577,629 (GRCm39) probably null Het
Tmem117 T G 15: 94,992,653 (GRCm39) S438A possibly damaging Het
Ttll7 A G 3: 146,667,465 (GRCm39) N777S probably damaging Het
Ubd T A 17: 37,506,345 (GRCm39) V77E probably damaging Het
Ubqln3 A G 7: 103,790,117 (GRCm39) S658P probably damaging Het
Vmn1r78 G A 7: 11,886,693 (GRCm39) M101I possibly damaging Het
Wdr93 T C 7: 79,426,974 (GRCm39) C638R probably benign Het
Zfp983 T A 17: 21,877,947 (GRCm39) V50D probably damaging Het
Zhx3 A T 2: 160,623,881 (GRCm39) H95Q probably damaging 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
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
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'- CACTTCCGGCATGCTGAAAAC -3'
(R):5'- CAAAGTGACAGCATCTGCAATG -3'

Sequencing Primer
(F):5'- CAGCAATCCATGTTTATCCAGTGGG -3'
(R):5'- AGCATCTGCAATGTCGCC -3'
Posted On 2016-11-08