Incidental Mutation 'R8132:Hyal6'
ID 632067
Institutional Source Beutler Lab
Gene Symbol Hyal6
Ensembl Gene ENSMUSG00000029679
Gene Name hyaluronoglucosaminidase 6
Synonyms Hyal-ps1, 4932701A20Rik
MMRRC Submission 067895-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R8132 (G1)
Quality Score 159.009
Status Not validated
Chromosome 6
Chromosomal Location 24733244-24745451 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24740827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 327 (I327L)
Ref Sequence ENSEMBL: ENSMUSP00000031690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031690]
AlphaFold Q9D4E9
Predicted Effect possibly damaging
Transcript: ENSMUST00000031690
AA Change: I327L

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031690
Gene: ENSMUSG00000029679
AA Change: I327L

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: 99.8%
  • 3x: 99.6%
  • 10x: 98.6%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,691,757 (GRCm39) A403T Het
Abhd16b G A 2: 181,135,760 (GRCm39) A221T probably damaging Het
Arhgef1 C T 7: 24,607,087 (GRCm39) probably benign Het
Arhgef1 C T 7: 24,619,174 (GRCm39) Q472* probably null Het
Calr3 C T 8: 73,181,023 (GRCm39) G298S probably damaging Het
Chrng A G 1: 87,133,718 (GRCm39) T15A unknown Het
CK137956 T A 4: 127,845,075 (GRCm39) K223* probably null Het
Clca3b A T 3: 144,552,935 (GRCm39) S97T probably benign Het
Cops7b G T 1: 86,514,916 (GRCm39) G102V probably damaging Het
Dennd1a T A 2: 37,748,072 (GRCm39) S382C probably damaging Het
Fdps G A 3: 89,006,693 (GRCm39) Q66* probably null Het
Gemin4 T C 11: 76,103,739 (GRCm39) T341A probably benign Het
Grk3 A G 5: 113,109,355 (GRCm39) S201P unknown Het
Hgf C T 5: 16,807,329 (GRCm39) T407I probably damaging Het
Hip1r C T 5: 124,135,290 (GRCm39) R446C probably damaging Het
Ifna15 T C 4: 88,475,920 (GRCm39) E188G possibly damaging Het
Igip A G 18: 36,434,266 (GRCm39) S11G probably benign Het
Igkv5-39 A G 6: 69,877,589 (GRCm39) Y56H probably damaging Het
Jph1 G A 1: 17,086,379 (GRCm39) T381I probably damaging Het
Lrrc55 T C 2: 85,022,259 (GRCm39) I311V probably benign Het
Mrps35 T A 6: 146,949,661 (GRCm39) D58E probably benign Het
Ms4a4d C A 19: 11,535,310 (GRCm39) P203T probably benign Het
Naip1 T G 13: 100,573,883 (GRCm39) E225D possibly damaging Het
Ncapg2 T A 12: 116,407,967 (GRCm39) I989N possibly damaging Het
Nek3 A T 8: 22,647,036 (GRCm39) Y166* probably null Het
Nphs1 A G 7: 30,181,478 (GRCm39) E1169G probably benign Het
Nudt15 G A 14: 73,759,099 (GRCm39) P123L probably benign Het
Or10c1 T A 17: 37,522,207 (GRCm39) E179V probably damaging Het
Or10q1b G A 19: 13,682,584 (GRCm39) C131Y probably damaging Het
Or5ac22 T C 16: 59,134,907 (GRCm39) I288V possibly damaging Het
Or6k14 T A 1: 173,927,737 (GRCm39) S238T probably damaging Het
Or8a1b C T 9: 37,623,369 (GRCm39) V69M probably benign Het
Pcdha5 T C 18: 37,093,694 (GRCm39) S68P possibly damaging Het
Plec G T 15: 76,074,773 (GRCm39) A330E unknown Het
Rpa3 A C 6: 8,256,790 (GRCm39) I63S probably damaging Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Snap25 A T 2: 136,611,748 (GRCm39) K83N probably benign Het
Sos1 T G 17: 80,716,031 (GRCm39) Q977P probably damaging Het
Spag16 A G 1: 70,420,461 (GRCm39) Y483C probably damaging Het
Speg A G 1: 75,399,639 (GRCm39) E2362G probably damaging Het
Swap70 A G 7: 109,855,084 (GRCm39) D128G probably damaging Het
Syngap1 G A 17: 27,177,154 (GRCm39) M545I probably damaging Het
Tdpoz6 G A 3: 93,599,452 (GRCm39) Q306* probably null Het
Tmem147 T C 7: 30,427,872 (GRCm39) E110G probably damaging Het
Tmem156 T A 5: 65,233,098 (GRCm39) I155F probably benign Het
Trim25 C A 11: 88,907,432 (GRCm39) A597E probably damaging Het
Ttc7b T C 12: 100,413,131 (GRCm39) Y229C probably damaging Het
Utrn T A 10: 12,558,154 (GRCm39) Q1435L probably damaging Het
Zbtb41 T C 1: 139,350,955 (GRCm39) S23P probably benign Het
Zeb2 T A 2: 44,879,142 (GRCm39) I1075F 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
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
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'- ATGCCCAAATCACCTTTTCCAG -3'
(R):5'- TGACCCGTGTTCATCCCTACAG -3'

Sequencing Primer
(F):5'- CCAGCACTTCGATAATGGTTTC -3'
(R):5'- TAGGACAGCAGTTCTCAACCTGTG -3'
Posted On 2020-06-30