Incidental Mutation 'R1401:Hyal6'
ID 160118
Institutional Source Beutler Lab
Gene Symbol Hyal6
Ensembl Gene ENSMUSG00000029679
Gene Name hyaluronoglucosaminidase 6
Synonyms Hyal-ps1, 4932701A20Rik
MMRRC Submission 039463-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R1401 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 24733244-24745451 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24743434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 377 (C377S)
Ref Sequence ENSEMBL: ENSMUSP00000031690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031690] [ENSMUST00000031691]
AlphaFold Q9D4E9
Predicted Effect probably damaging
Transcript: ENSMUST00000031690
AA Change: C377S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031690
Gene: ENSMUSG00000029679
AA Change: C377S

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
Predicted Effect probably benign
Transcript: ENSMUST00000031691
SMART Domains Protein: ENSMUSP00000031691
Gene: ENSMUSG00000029680

DomainStartEndE-ValueType
low complexity region 23 36 N/A INTRINSIC
Pfam:Glyco_hydro_56 41 373 3e-137 PFAM
EGF 375 447 2.81e0 SMART
low complexity region 453 473 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.4%
Validation Efficiency 98% (87/89)
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Abcg1 T A 17: 31,333,132 (GRCm39) I625N possibly damaging Het
Adam33 C A 2: 130,893,391 (GRCm39) probably benign Het
Adgrl2 A T 3: 148,528,617 (GRCm39) I1185N probably damaging Het
Afp A T 5: 90,649,486 (GRCm39) probably benign Het
Aggf1 A G 13: 95,501,356 (GRCm39) V342A probably benign Het
Ankrd11 A T 8: 123,619,789 (GRCm39) S1333R probably benign Het
Arhgef11 C A 3: 87,640,776 (GRCm39) S1311* probably null Het
Atp6v1g1 T C 4: 63,466,878 (GRCm39) Y47H probably benign Het
Atp8b4 T C 2: 126,165,013 (GRCm39) probably null Het
Barx2 A G 9: 31,770,327 (GRCm39) L67P probably damaging Het
Bbs7 G A 3: 36,627,706 (GRCm39) P694S probably benign Het
Btbd10 A T 7: 112,946,266 (GRCm39) V33E probably benign Het
C2 T C 17: 35,091,457 (GRCm39) T69A possibly damaging Het
C8b T G 4: 104,641,679 (GRCm39) L205R possibly damaging Het
Cct4 T G 11: 22,944,333 (GRCm39) N72K probably damaging Het
Cd300lg C A 11: 101,944,981 (GRCm39) P353H possibly damaging Het
Cdh20 A T 1: 104,875,222 (GRCm39) I335L possibly damaging Het
Cfhr2 T A 1: 139,738,757 (GRCm39) H268L probably benign Het
Chia1 T A 3: 106,036,255 (GRCm39) D278E probably benign Het
Cntn6 A G 6: 104,781,359 (GRCm39) T482A possibly damaging Het
Cst13 T A 2: 148,665,016 (GRCm39) F4I probably benign Het
Ctsc T A 7: 87,930,706 (GRCm39) V95E probably damaging Het
Ddhd1 A T 14: 45,842,508 (GRCm39) probably null Het
Dmxl2 A T 9: 54,322,712 (GRCm39) probably null Het
Dnah5 A C 15: 28,402,059 (GRCm39) T3407P probably damaging Het
Dock1 T A 7: 134,735,665 (GRCm39) Y1344* probably null Het
Eif4g3 T C 4: 137,933,395 (GRCm39) V1740A probably damaging Het
Epb41l5 A G 1: 119,506,634 (GRCm39) probably benign Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Fnbp1l C T 3: 122,339,955 (GRCm39) R499Q probably damaging Het
Gm10033 T C 8: 69,826,022 (GRCm39) noncoding transcript Het
Gm12790 A G 4: 101,825,396 (GRCm39) L6P probably benign Het
Gramd4 A G 15: 86,009,397 (GRCm39) D210G probably damaging Het
Hectd3 T C 4: 116,859,466 (GRCm39) S697P possibly damaging Het
Hsf4 T C 8: 106,002,235 (GRCm39) V399A probably benign Het
Myb C T 10: 21,028,844 (GRCm39) V85M probably damaging Het
Mypn A G 10: 62,988,636 (GRCm39) V463A probably damaging Het
Nav1 T A 1: 135,388,163 (GRCm39) I1144L probably benign Het
Nckap5 A G 1: 125,942,398 (GRCm39) probably benign Het
Nipbl A T 15: 8,401,657 (GRCm39) S30T probably damaging Het
Nmt1 T C 11: 102,948,307 (GRCm39) F277S probably damaging Het
Nploc4 A C 11: 120,274,115 (GRCm39) probably benign Het
Nup54 C A 5: 92,576,080 (GRCm39) R137I probably damaging Het
Or52n2b T C 7: 104,565,963 (GRCm39) Y180C probably damaging Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Pkd1l1 G T 11: 8,804,487 (GRCm39) Y1701* probably null Het
Plekhg6 T C 6: 125,340,072 (GRCm39) T763A probably damaging Het
Pmepa1 C T 2: 173,070,368 (GRCm39) probably null Het
Ppfia2 A G 10: 106,666,518 (GRCm39) E408G possibly damaging Het
Pramel13 G A 4: 144,121,658 (GRCm39) T122M probably benign Het
Prl8a2 G A 13: 27,537,979 (GRCm39) V218I possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Shisal2b A T 13: 105,000,113 (GRCm39) C37S probably damaging Het
Slc13a1 A T 6: 24,118,082 (GRCm39) probably null Het
Slc17a8 T A 10: 89,427,076 (GRCm39) T342S probably damaging Het
Slc30a9 A G 5: 67,510,005 (GRCm39) E519G probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slc39a5 G A 10: 128,233,610 (GRCm39) L296F probably damaging Het
Slco6b1 A C 1: 96,857,610 (GRCm39) noncoding transcript Het
Slco6d1 G A 1: 98,418,341 (GRCm39) G509D probably damaging Het
Spen A G 4: 141,199,132 (GRCm39) V3142A probably damaging Het
Spta1 T A 1: 174,050,250 (GRCm39) H1763Q probably damaging Het
Srcap T C 7: 127,159,124 (GRCm39) probably benign Het
Stard9 T C 2: 120,543,328 (GRCm39) probably benign Het
Stat4 A G 1: 52,111,106 (GRCm39) probably benign Het
Svbp T A 4: 119,053,225 (GRCm39) probably benign Het
Tm2d1 A T 4: 98,258,833 (GRCm39) probably benign Het
Trpv1 C A 11: 73,130,952 (GRCm39) probably null Het
Trrap A G 5: 144,794,232 (GRCm39) D3713G possibly damaging Het
Ubr1 T A 2: 120,786,125 (GRCm39) D165V probably benign Het
Utrn C A 10: 12,524,897 (GRCm39) M2195I probably benign Het
Vmn1r229 G A 17: 21,034,904 (GRCm39) V50I possibly damaging Het
Vmn1r44 A T 6: 89,870,632 (GRCm39) H126L probably benign Het
Vmn2r116 T C 17: 23,605,570 (GRCm39) probably benign Het
Vmn2r27 A C 6: 124,168,591 (GRCm39) Y846* probably null Het
Vmn2r84 T A 10: 130,227,859 (GRCm39) S126C possibly damaging Het
Xylb T A 9: 119,197,133 (GRCm39) probably benign Het
Zfp282 A T 6: 47,867,108 (GRCm39) K232* probably null Het
Zfp39 C A 11: 58,781,149 (GRCm39) V538L probably benign Het
Zfp560 T C 9: 20,263,149 (GRCm39) N76D possibly damaging Het
Zmym4 C T 4: 126,804,962 (GRCm39) V433I probably benign Het
Zscan5b A G 7: 6,233,425 (GRCm39) E83G 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
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'- GGCCTTGAACTCAACTCCATAGGTCA -3'
(R):5'- AGTCTCCATGCCAGCCATAGTAACA -3'

Sequencing Primer
(F):5'- gcttcttgttcctttcatcttctatc -3'
(R):5'- AGCCATAGTAACAGTGGCAC -3'
Posted On 2014-03-14