Incidental Mutation 'R8300:Hyal6'
ID 639198
Institutional Source Beutler Lab
Gene Symbol Hyal6
Ensembl Gene ENSMUSG00000029679
Gene Name hyaluronoglucosaminidase 6
Synonyms Hyal-ps1, 4932701A20Rik
MMRRC Submission 067788-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R8300 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 24733244-24745451 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24734087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 7 (T7A)
Ref Sequence ENSEMBL: ENSMUSP00000031690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031690]
AlphaFold Q9D4E9
Predicted Effect probably benign
Transcript: ENSMUST00000031690
AA Change: T7A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031690
Gene: ENSMUSG00000029679
AA Change: T7A

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 A G 9: 21,437,561 (GRCm39) M1V probably null Het
Abca12 T A 1: 71,353,123 (GRCm39) N773I possibly damaging Het
Adh7 A G 3: 137,929,825 (GRCm39) E167G probably damaging Het
Ank2 T A 3: 126,804,555 (GRCm39) D622V Het
Asf1b T A 8: 84,695,805 (GRCm39) F149I possibly damaging Het
Bach1 T C 16: 87,515,996 (GRCm39) V179A probably benign Het
C1ra C T 6: 124,498,597 (GRCm39) A430V probably benign Het
Cacna1c T A 6: 118,575,717 (GRCm39) Q1944L Het
Camkk1 T C 11: 72,918,266 (GRCm39) V158A probably benign Het
Ccdc152 T C 15: 3,327,634 (GRCm39) T48A probably benign Het
Cd180 A T 13: 102,841,301 (GRCm39) M116L probably benign Het
Clca3a2 C T 3: 144,804,692 (GRCm39) G12R probably benign Het
Coq8b T C 7: 26,941,671 (GRCm39) V252A possibly damaging Het
Cp A G 3: 20,011,385 (GRCm39) probably benign Het
Ctsj A T 13: 61,150,285 (GRCm39) V238E probably damaging Het
Ctsj C T 13: 61,150,286 (GRCm39) V238I probably damaging Het
Cxcr2 A T 1: 74,198,333 (GRCm39) M276L probably benign Het
Drd5 T C 5: 38,477,672 (GRCm39) S222P probably damaging Het
Egflam T C 15: 7,283,932 (GRCm39) D269G possibly damaging Het
Fbn2 C T 18: 58,342,687 (GRCm39) R64Q probably benign Het
Fyb2 A T 4: 104,857,689 (GRCm39) K622M probably damaging Het
Gm10220 T C 5: 26,322,818 (GRCm39) E198G probably damaging Het
Gm1527 A T 3: 28,980,744 (GRCm39) N615Y possibly damaging Het
Gpatch3 A G 4: 133,307,140 (GRCm39) H308R probably damaging Het
Gsdmc4 A G 15: 63,766,790 (GRCm39) I261T probably damaging Het
Gsg1 T G 6: 135,214,580 (GRCm39) T310P probably benign Het
Hecw2 T C 1: 53,926,775 (GRCm39) S1075G probably null Het
Ighv1-59 T G 12: 115,298,987 (GRCm39) Q22H probably damaging Het
Lyst T A 13: 13,838,643 (GRCm39) M1853K possibly damaging Het
Maco1 A G 4: 134,555,762 (GRCm39) I237T probably benign Het
Mccc1 A T 3: 36,017,753 (GRCm39) M649K probably damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nek4 A G 14: 30,692,352 (GRCm39) D399G Het
Obscn T C 11: 58,933,896 (GRCm39) K5323E probably benign Het
Or6p1 T A 1: 174,258,100 (GRCm39) Y35* probably null Het
Paics T C 5: 77,109,253 (GRCm39) V196A probably damaging Het
Pced1a C A 2: 130,266,157 (GRCm39) probably benign Het
Pierce1 A T 2: 28,352,435 (GRCm39) Y109* probably null Het
Pik3cb A G 9: 98,928,711 (GRCm39) V848A probably damaging Het
Ppm1h T A 10: 122,618,118 (GRCm39) N92K probably damaging Het
Ppp1r16b T A 2: 158,588,571 (GRCm39) I152N probably damaging Het
Pramel7 A G 2: 87,319,967 (GRCm39) M442T probably benign Het
Prex2 A T 1: 11,301,942 (GRCm39) N1415I possibly damaging Het
Pum3 T C 19: 27,399,773 (GRCm39) K220R probably benign Het
Qrich2 G T 11: 116,347,175 (GRCm39) D1216E probably benign Het
Rbbp8 T A 18: 11,838,833 (GRCm39) silent Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rimbp2 C T 5: 128,874,835 (GRCm39) R252Q probably damaging Het
Rnpep T C 1: 135,211,397 (GRCm39) H117R probably benign Het
Serpinb10 A G 1: 107,474,456 (GRCm39) D206G probably benign Het
Sh3tc1 C T 5: 35,854,792 (GRCm39) V1302M probably benign Het
Slmap T C 14: 26,139,374 (GRCm39) E780G possibly damaging Het
Snrpg T A 6: 86,353,558 (GRCm39) V46E probably damaging Het
Spef1l A T 7: 139,557,091 (GRCm39) I98N probably damaging Het
Sptbn5 T A 2: 119,878,058 (GRCm39) Q953L noncoding transcript Het
Stard9 C T 2: 120,535,250 (GRCm39) L3836F possibly damaging Het
Tcerg1 T A 18: 42,683,137 (GRCm39) M619K probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tnfrsf9 C T 4: 151,017,556 (GRCm39) T137M probably damaging Het
Tpbgl G T 7: 99,274,774 (GRCm39) A361E probably damaging Het
Trak1 G T 9: 121,289,565 (GRCm39) E626* probably null Het
Trio G T 15: 27,855,108 (GRCm39) H750Q possibly damaging Het
U2af2 T C 7: 5,070,414 (GRCm39) probably benign Het
Vmn2r3 T C 3: 64,182,347 (GRCm39) I451V probably benign Het
Zfp930 A T 8: 69,680,998 (GRCm39) N230I 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
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
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
Posted On 2020-07-28