Incidental Mutation 'IGL01351:Hyal6'
ID75368
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hyal6
Ensembl Gene ENSMUSG00000029679
Gene Namehyaluronoglucosaminidase 6
Synonyms4932701A20Rik, Hyal-ps1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL01351
Quality Score
Status
Chromosome6
Chromosomal Location24733245-24745452 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 24734179 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 37 (F37S)
Ref Sequence ENSEMBL: ENSMUSP00000031690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031690]
Predicted Effect probably damaging
Transcript: ENSMUST00000031690
AA Change: F37S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031690
Gene: ENSMUSG00000029679
AA Change: F37S

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,267,565 S336P probably benign Het
Abca9 T C 11: 110,148,903 Y428C probably damaging Het
Alpk1 T C 3: 127,672,362 Q1165R probably damaging Het
Angel2 C A 1: 190,933,113 N80K probably benign Het
Bmp6 T C 13: 38,469,634 S226P probably damaging Het
Ccar2 T C 14: 70,145,862 T229A probably benign Het
Cdh12 G A 15: 21,237,903 V75M probably damaging Het
Cdh6 G T 15: 13,034,240 A778E possibly damaging Het
Corin A T 5: 72,338,991 C540S probably damaging Het
Cyfip1 C A 7: 55,898,243 Y530* probably null Het
Dock10 T G 1: 80,593,159 K327N probably damaging Het
Dpy19l3 A G 7: 35,727,415 probably benign Het
E2f8 T C 7: 48,867,151 T827A probably benign Het
Edem3 T C 1: 151,792,385 V305A possibly damaging Het
Fam170a T C 18: 50,281,778 W164R probably benign Het
Fam208a A G 14: 27,464,301 E819G probably benign Het
Fbxw14 T C 9: 109,274,572 D24G possibly damaging Het
Gnmt T C 17: 46,726,680 D124G probably benign Het
Gpx5 T C 13: 21,287,499 D178G probably damaging Het
Gsdmd T A 15: 75,864,337 I105N probably damaging Het
Hps5 C T 7: 46,761,432 M1113I probably damaging Het
Il17c C T 8: 122,422,123 T2I probably benign Het
Lyz1 A G 10: 117,291,188 C48R probably damaging Het
Olfr670 T A 7: 104,960,739 probably benign Het
Pafah1b3 G A 7: 25,295,145 R215C possibly damaging Het
Psmb4 A T 3: 94,886,227 probably null Het
Rnf213 T C 11: 119,483,118 V5009A probably benign Het
Sema6a T C 18: 47,281,302 K494E possibly damaging Het
Sfmbt1 T C 14: 30,769,820 V17A probably benign Het
Speg T A 1: 75,411,276 probably benign Het
Spint1 A G 2: 119,246,455 D340G probably damaging Het
Tctn3 T C 19: 40,607,637 I309V probably benign Het
Tex19.1 T A 11: 121,147,246 D143E probably damaging Het
Tktl2 A G 8: 66,512,896 I369V probably benign Het
Tm2d2 A G 8: 25,020,557 probably benign Het
Traf4 C A 11: 78,165,400 R14L possibly damaging Het
Zfhx4 A G 3: 5,401,136 Y2118C probably damaging Het
Zmynd15 C A 11: 70,463,590 N425K probably benign Het
Other mutations in Hyal6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02269:Hyal6 APN 6 24740859 missense probably damaging 0.97
IGL02729:Hyal6 APN 6 24734695 missense probably damaging 1.00
IGL02793:Hyal6 APN 6 24734379 nonsense probably null
IGL02943:Hyal6 APN 6 24743439 missense probably damaging 0.99
IGL03351:Hyal6 APN 6 24743429 missense probably damaging 1.00
R0481:Hyal6 UTSW 6 24743418 missense probably damaging 1.00
R0517:Hyal6 UTSW 6 24734853 missense probably benign
R0853:Hyal6 UTSW 6 24734073 missense probably benign
R1182:Hyal6 UTSW 6 24743417 missense probably damaging 1.00
R1401:Hyal6 UTSW 6 24743435 missense probably damaging 1.00
R1780:Hyal6 UTSW 6 24734032 splice site probably benign
R1858:Hyal6 UTSW 6 24740858 missense probably benign 0.01
R2011:Hyal6 UTSW 6 24734724 missense possibly damaging 0.69
R3441:Hyal6 UTSW 6 24734593 missense probably benign
R4819:Hyal6 UTSW 6 24734966 nonsense probably null
R5357:Hyal6 UTSW 6 24734518 missense probably benign 0.05
R5648:Hyal6 UTSW 6 24734236 missense possibly damaging 0.61
R5717:Hyal6 UTSW 6 24743691 missense probably benign 0.15
R5884:Hyal6 UTSW 6 24743369 missense probably damaging 1.00
R6657:Hyal6 UTSW 6 24734758 missense possibly damaging 0.61
R6826:Hyal6 UTSW 6 24734372 missense probably damaging 1.00
R7178:Hyal6 UTSW 6 24734835 missense probably benign 0.28
R7531:Hyal6 UTSW 6 24740787 missense possibly damaging 0.46
R7630:Hyal6 UTSW 6 24734584 missense probably damaging 1.00
R7787:Hyal6 UTSW 6 24743736 missense probably damaging 0.99
R7851:Hyal6 UTSW 6 24734498 missense probably benign 0.05
R8132:Hyal6 UTSW 6 24740828 missense possibly damaging 0.80
R8200:Hyal6 UTSW 6 24734566 missense probably benign 0.01
R8294:Hyal6 UTSW 6 24734379 missense possibly damaging 0.53
R8300:Hyal6 UTSW 6 24734088 missense probably benign
R8509:Hyal6 UTSW 6 24734606 missense probably damaging 1.00
R8705:Hyal6 UTSW 6 24734674 missense probably benign 0.01
X0019:Hyal6 UTSW 6 24734667 missense probably damaging 1.00
Posted On2013-10-07