Incidental Mutation 'IGL03351:Hyal6'
ID 419699
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hyal6
Ensembl Gene ENSMUSG00000029679
Gene Name hyaluronoglucosaminidase 6
Synonyms Hyal-ps1, 4932701A20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # IGL03351
Quality Score
Status
Chromosome 6
Chromosomal Location 24733244-24745451 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 24743428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 375 (G375R)
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: G375R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031690
Gene: ENSMUSG00000029679
AA Change: G375R

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T A 2: 68,561,427 (GRCm39) D251E probably benign Het
5730460C07Rik C T 3: 153,495,595 (GRCm39) noncoding transcript Het
Coch G A 12: 51,649,989 (GRCm39) R326Q probably benign Het
Cpa3 A G 3: 20,270,126 (GRCm39) V366A probably benign Het
Csf1r C T 18: 61,250,180 (GRCm39) Q382* probably null Het
Csta1 C A 16: 35,951,411 (GRCm39) G4* probably null Het
Cts7 T C 13: 61,504,417 (GRCm39) R49G probably damaging Het
Dlg5 A G 14: 24,220,522 (GRCm39) V575A probably benign Het
Ero1a G T 14: 45,531,990 (GRCm39) N227K probably benign Het
Faap24 G T 7: 35,094,734 (GRCm39) C58* probably null Het
Hfm1 G A 5: 107,059,441 (GRCm39) Q194* probably null Het
Hs3st5 T A 10: 36,709,319 (GRCm39) Y285N probably damaging Het
Itgb5 T C 16: 33,730,922 (GRCm39) S93P probably benign Het
Kcnj6 A T 16: 94,633,442 (GRCm39) M205K probably damaging Het
Kdm6a C T X: 18,113,343 (GRCm39) Q92* probably null Het
Klhl38 A G 15: 58,186,726 (GRCm39) M1T probably null Het
Krtap7-1 T C 16: 89,304,884 (GRCm39) probably benign Het
L1cam T C X: 72,906,634 (GRCm39) T270A probably damaging Het
Lmod2 A G 6: 24,598,015 (GRCm39) N45S probably benign Het
Magea13 G A X: 57,964,297 (GRCm39) V19I probably benign Het
Mmp2 A G 8: 93,565,970 (GRCm39) I424V probably benign Het
Myh8 A G 11: 67,194,739 (GRCm39) Q1650R possibly damaging Het
Naalad2 T A 9: 18,275,483 (GRCm39) E313V possibly damaging Het
Nipsnap3a A G 4: 52,994,134 (GRCm39) T74A probably benign Het
Npr2 G T 4: 43,640,652 (GRCm39) M368I probably benign Het
Nup58 T C 14: 60,466,224 (GRCm39) T445A probably benign Het
Or14a256 A G 7: 86,264,885 (GRCm39) Y323H possibly damaging Het
Or52r1b A G 7: 102,691,337 (GRCm39) D212G probably damaging Het
Pkp3 A G 7: 140,662,606 (GRCm39) T73A probably benign Het
Pole A G 5: 110,449,864 (GRCm39) probably benign Het
Ppp2r3d C T 9: 101,088,391 (GRCm39) G644D probably benign Het
Pramel23 G A 4: 143,423,658 (GRCm39) T377I possibly damaging Het
Ptprb T C 10: 116,175,487 (GRCm39) Y1161H probably benign Het
Ptprs T A 17: 56,744,943 (GRCm39) K264N probably damaging Het
Rasal2 T C 1: 157,020,311 (GRCm39) probably benign Het
Serpina6 A T 12: 103,613,172 (GRCm39) I376N probably damaging Het
Setx T G 2: 29,051,811 (GRCm39) I2062M probably benign Het
Slc9c1 A G 16: 45,363,531 (GRCm39) D99G probably benign Het
Spata31h1 T C 10: 82,119,401 (GRCm39) probably benign Het
Taok1 A G 11: 77,451,154 (GRCm39) Y309H probably damaging Het
Trappc10 T C 10: 78,024,595 (GRCm39) D1178G probably damaging Het
Trav5-1 G A 14: 52,860,302 (GRCm39) E36K probably damaging Het
Vmn1r237 T C 17: 21,535,099 (GRCm39) V274A probably benign Het
Vmn1r29 A T 6: 58,284,735 (GRCm39) S152C probably damaging Het
Washc5 C A 15: 59,235,199 (GRCm39) probably benign Het
Zfp369 T G 13: 65,443,967 (GRCm39) L370R possibly damaging Het
Zfp750 T C 11: 121,404,173 (GRCm39) Y234C 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
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
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
Posted On 2016-08-02