Incidental Mutation 'R5717:Hyal6'
ID 451211
Institutional Source Beutler Lab
Gene Symbol Hyal6
Ensembl Gene ENSMUSG00000029679
Gene Name hyaluronoglucosaminidase 6
Synonyms Hyal-ps1, 4932701A20Rik
MMRRC Submission 043337-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R5717 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 24733244-24745451 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24743690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 462 (M462T)
Ref Sequence ENSEMBL: ENSMUSP00000031690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031690] [ENSMUST00000031691]
AlphaFold Q9D4E9
Predicted Effect probably benign
Transcript: ENSMUST00000031690
AA Change: M462T

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000031690
Gene: ENSMUSG00000029679
AA Change: M462T

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (48/49)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411K16Rik A T 19: 42,041,484 (GRCm39) H205L probably benign Het
Acss2 T C 2: 155,403,073 (GRCm39) L617S probably damaging Het
Adgrl4 T C 3: 151,197,971 (GRCm39) V77A probably benign Het
Adnp2 A G 18: 80,171,479 (GRCm39) S977P probably benign Het
Ankrd11 T C 8: 123,619,377 (GRCm39) K1492E possibly damaging Het
B4galt5 G A 2: 167,148,549 (GRCm39) R190C probably damaging Het
Bbs1 A G 19: 4,947,354 (GRCm39) V355A possibly damaging Het
Cenpj GTTTT GTTTTT 14: 56,790,978 (GRCm39) probably null Het
Ckap2 T C 8: 22,665,063 (GRCm39) E467G probably damaging Het
Cry1 A T 10: 84,982,280 (GRCm39) H355Q probably damaging Het
Cspg4 G T 9: 56,793,082 (GRCm39) M272I probably benign Het
Dicer1 T A 12: 104,671,387 (GRCm39) Y961F probably damaging Het
Epha2 A T 4: 141,049,382 (GRCm39) M689L probably benign Het
Foxc1 C T 13: 31,991,471 (GRCm39) A94V probably benign Het
Fras1 T C 5: 96,929,596 (GRCm39) V4000A possibly damaging Het
Frmd8 G T 19: 5,923,396 (GRCm39) probably benign Het
Gm5218 A G 15: 81,383,478 (GRCm39) noncoding transcript Het
Gm7735 T C 16: 88,966,430 (GRCm39) L18P unknown Het
Hr C T 14: 70,803,616 (GRCm39) T808I probably benign Het
Igkv6-20 T A 6: 70,313,412 (GRCm39) probably benign Het
Igkv8-27 T A 6: 70,148,918 (GRCm39) T59S probably benign Het
Itga11 A G 9: 62,659,531 (GRCm39) T428A probably benign Het
Klk1b16 A G 7: 43,788,913 (GRCm39) I49V probably benign Het
Matn2 G T 15: 34,399,237 (GRCm39) E375* probably null Het
Msgn1 T C 12: 11,258,519 (GRCm39) Y144C probably damaging Het
Myh1 A G 11: 67,099,782 (GRCm39) N564S probably benign Het
Mypn A G 10: 62,963,555 (GRCm39) V972A probably damaging Het
Or4c29 T C 2: 88,740,366 (GRCm39) I124V possibly damaging Het
Or5an11 A G 19: 12,246,520 (GRCm39) K309E probably benign Het
Or8s5 G A 15: 98,238,246 (GRCm39) A208V probably benign Het
Ppp2r5d A G 17: 46,998,820 (GRCm39) S81P probably damaging Het
Ptgis C T 2: 167,050,284 (GRCm39) probably benign Het
Ptprr A G 10: 115,884,018 (GRCm39) N25S probably benign Het
Rnf123 G A 9: 107,944,623 (GRCm39) T456I probably damaging Het
Rpl6l T C 10: 110,961,884 (GRCm39) noncoding transcript Het
Rps25 A G 9: 44,320,047 (GRCm39) Y23C probably benign Het
Sec24a A G 11: 51,598,037 (GRCm39) V879A probably benign Het
Sema6a G A 18: 47,382,330 (GRCm39) A739V probably benign Het
Senp6 A T 9: 79,999,594 (GRCm39) I4F probably damaging Het
Slc49a4 A G 16: 35,539,799 (GRCm39) F341L probably benign Het
Stoml3 A T 3: 53,412,937 (GRCm39) Q197L probably damaging Het
Ttn T A 2: 76,578,091 (GRCm39) K24267N probably damaging Het
Vmn1r43 T C 6: 89,846,905 (GRCm39) S194G probably damaging Het
Vmn2r17 C T 5: 109,575,140 (GRCm39) T149I possibly damaging Het
Wdr72 T A 9: 74,055,487 (GRCm39) Y239N probably damaging Het
Zfp423 A T 8: 88,413,187 (GRCm39) probably null Het
Zfp759 T A 13: 67,286,772 (GRCm39) C114S 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
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'- CTGCATATGCCTGAGGATAGC -3'
(R):5'- ATTGCCCAGCATGAAGTGAAC -3'

Sequencing Primer
(F):5'- AGAAGGGTTTCAGATTTGTCATTCCC -3'
(R):5'- GCATGAAGTGAACATCCAACAATTTG -3'
Posted On 2017-01-03