Incidental Mutation 'R8200:Hyal6'
ID 635625
Institutional Source Beutler Lab
Gene Symbol Hyal6
Ensembl Gene ENSMUSG00000029679
Gene Name hyaluronoglucosaminidase 6
Synonyms Hyal-ps1, 4932701A20Rik
MMRRC Submission 067623-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R8200 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 24733244-24745451 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24734565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 166 (D166G)
Ref Sequence ENSEMBL: ENSMUSP00000031690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031690]
AlphaFold Q9D4E9
Predicted Effect probably benign
Transcript: ENSMUST00000031690
AA Change: D166G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000031690
Gene: ENSMUSG00000029679
AA Change: D166G

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: 99.9%
  • 10x: 99.4%
  • 20x: 98.3%
Validation Efficiency 100% (38/38)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930555G01Rik T A 14: 5,052,797 (GRCm38) M132K probably benign Het
Abtb2 A G 2: 103,531,162 (GRCm39) I431V probably benign Het
Ache A G 5: 137,292,457 (GRCm39) Q601R probably damaging Het
Ap3d1 A T 10: 80,558,766 (GRCm39) C279* probably null Het
Brms1l T C 12: 55,891,183 (GRCm39) L79P probably damaging Het
Brpf3 C T 17: 29,025,248 (GRCm39) A107V probably benign Het
Catsperd T C 17: 56,939,368 (GRCm39) probably null Het
Ccnb1ip1 C T 14: 51,029,750 (GRCm39) R104H probably benign Het
Ces1g T A 8: 94,055,085 (GRCm39) N204I probably damaging Het
Cmbl T C 15: 31,585,539 (GRCm39) V141A probably benign Het
Dmxl2 A T 9: 54,387,630 (GRCm39) H69Q probably benign Het
Dnah10 T C 5: 124,905,524 (GRCm39) L4113P probably damaging Het
Fam120a T C 13: 49,102,595 (GRCm39) H220R probably damaging Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Gm43218 C T 6: 70,217,528 (GRCm39) G76E probably damaging Het
Gypa A T 8: 81,220,695 (GRCm39) T5S unknown Het
Immt T A 6: 71,848,421 (GRCm39) V470D probably damaging Het
Itpr1 A G 6: 108,371,826 (GRCm39) S1167G probably benign Het
Ndufs1 A T 1: 63,209,331 (GRCm39) probably null Het
Nr1i3 C A 1: 171,045,266 (GRCm39) H305N probably benign Het
Nucb2 T C 7: 116,132,398 (GRCm39) probably null Het
Plau A C 14: 20,889,181 (GRCm39) K130T possibly damaging Het
Ppef2 A T 5: 92,393,251 (GRCm39) V246E probably benign Het
Prune2 G A 19: 17,102,337 (GRCm39) V2499I probably benign Het
Rnf207 C T 4: 152,398,492 (GRCm39) probably null Het
Septin9 A G 11: 117,123,542 (GRCm39) T7A probably benign Het
Sh3bp5l T C 11: 58,222,685 (GRCm39) I60T probably damaging Het
Taar9 A G 10: 23,985,317 (GRCm39) L39P probably damaging Het
Tcl1b5 A T 12: 105,145,212 (GRCm39) M59L probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Thap2 A T 10: 115,212,392 (GRCm39) F44L Het
Trp53bp1 A G 2: 121,066,657 (GRCm39) S690P probably benign Het
Ttc9 T C 12: 81,707,435 (GRCm39) Y165H probably damaging Het
Ttll11 A G 2: 35,834,940 (GRCm39) I162T probably damaging Het
Ttll5 T A 12: 85,926,184 (GRCm39) I326N probably damaging Het
Tuft1 A T 3: 94,523,977 (GRCm39) D292E probably damaging Het
Ubap2l T C 3: 89,930,933 (GRCm39) S365G probably benign Het
Ugt2b37 G A 5: 87,388,750 (GRCm39) Q488* probably null Het
Vmo1 A G 11: 70,405,325 (GRCm39) V35A possibly damaging Het
Wdr36 A G 18: 32,998,979 (GRCm39) K875R 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
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'- AGCACCTCAGGAAAAGTGCC -3'
(R):5'- AGCCACATGAGTTGGTCATTG -3'

Sequencing Primer
(F):5'- AAAGTGCCGGCGACATTGC -3'
(R):5'- ATCTGGGCAACTTCCTGTGTAGAAC -3'
Posted On 2020-07-13