Incidental Mutation 'R5884:Hyal6'
ID 454565
Institutional Source Beutler Lab
Gene Symbol Hyal6
Ensembl Gene ENSMUSG00000029679
Gene Name hyaluronoglucosaminidase 6
Synonyms Hyal-ps1, 4932701A20Rik
MMRRC Submission 044087-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R5884 (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 24743368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 355 (Y355H)
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: Y355H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031690
Gene: ENSMUSG00000029679
AA Change: Y355H

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 95.6%
  • 20x: 82.8%
Validation Efficiency 96% (66/69)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bmp5 T C 9: 75,805,836 (GRCm39) M446T probably damaging Het
Cacna1g C T 11: 94,328,693 (GRCm39) A1052T probably damaging Het
Cand1 C T 10: 119,049,670 (GRCm39) A359T possibly damaging Het
Ccne2 A T 4: 11,199,411 (GRCm39) T271S probably benign Het
Cep112 A G 11: 108,461,142 (GRCm39) T546A probably damaging Het
Ces1g A G 8: 94,033,558 (GRCm39) S455P probably benign Het
Dnah11 A T 12: 118,141,269 (GRCm39) C496S probably benign Het
Dtx3l C G 16: 35,752,603 (GRCm39) E668Q probably benign Het
Dysf T A 6: 84,163,063 (GRCm39) F1579I probably damaging Het
Emx2 T G 19: 59,452,461 (GRCm39) D248E probably damaging Het
Eri2 A C 7: 119,371,552 (GRCm39) *275E probably null Het
F5 G A 1: 164,023,215 (GRCm39) R1591H probably benign Het
Fabp3 A G 4: 130,206,131 (GRCm39) T41A probably benign Het
Fam89a C T 8: 125,478,508 (GRCm39) R14H probably damaging Het
Gbe1 T A 16: 70,325,763 (GRCm39) probably null Het
Golga3 A G 5: 110,364,761 (GRCm39) E1211G probably damaging Het
Gpa33 T C 1: 165,980,329 (GRCm39) S131P probably damaging Het
Ide A T 19: 37,249,552 (GRCm39) probably null Het
Ighv5-21 A T 12: 114,283,806 (GRCm39) probably benign Het
Iglc1 A T 16: 18,880,741 (GRCm39) probably benign Het
Impa1 A T 3: 10,381,284 (GRCm39) N199K probably damaging Het
Irx5 A C 8: 93,087,258 (GRCm39) T397P possibly damaging Het
Lonp2 A G 8: 87,368,254 (GRCm39) Y356C probably damaging Het
Matn4 A T 2: 164,246,528 (GRCm39) probably benign Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Nav2 T A 7: 49,246,917 (GRCm39) Y2147* probably null Het
Nek5 C T 8: 22,578,817 (GRCm39) probably null Het
Omt2b A G 9: 78,235,839 (GRCm39) M55V probably benign Het
Or5d37 A G 2: 87,924,140 (GRCm39) Y47H probably damaging Het
Or6z1 C A 7: 6,504,842 (GRCm39) V128L probably benign Het
Or9g8 T A 2: 85,607,399 (GRCm39) I157K probably damaging Het
Parp4 T A 14: 56,852,207 (GRCm39) H796Q probably damaging Het
Pex2 T C 3: 5,626,359 (GRCm39) E150G probably benign Het
Poglut2 T C 1: 44,156,260 (GRCm39) N109S probably benign Het
Psmb2 T A 4: 126,578,014 (GRCm39) V64E possibly damaging Het
Psmd6 C T 14: 14,116,526 (GRCm38) R63H probably damaging Het
Ptprd A G 4: 75,900,927 (GRCm39) Y1061H probably damaging Het
Rab23 A G 1: 33,763,967 (GRCm39) probably benign Het
Rad51ap2 GAAAAGGAAACTATTTAAAA GAAAA 12: 11,507,534 (GRCm39) probably benign Het
Reg1 C T 6: 78,405,200 (GRCm39) S141L possibly damaging Het
Rock1 A T 18: 10,099,361 (GRCm39) I680K probably benign Het
Sez6l2 A G 7: 126,569,328 (GRCm39) probably benign Het
Slc34a2 A T 5: 53,226,722 (GRCm39) Q615L possibly damaging Het
Slu7 A G 11: 43,334,245 (GRCm39) K424E probably benign Het
Tctn2 A T 5: 124,741,895 (GRCm39) noncoding transcript Het
Tmem87a T A 2: 120,234,605 (GRCm39) probably benign Het
Trappc4 A G 9: 44,315,385 (GRCm39) F198L probably damaging Het
Usp33 C T 3: 152,073,967 (GRCm39) T271I probably benign Het
Vmn1r15 T A 6: 57,235,993 (GRCm39) I287K probably damaging Het
Vmn2r75 A C 7: 85,814,578 (GRCm39) I305R probably benign Het
Wdr26 T C 1: 181,015,106 (GRCm39) probably benign Het
Zzz3 T C 3: 152,156,295 (GRCm39) S684P 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
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'- CTAGCGGCTCAATTTTGTTTAGAC -3'
(R):5'- CTTACTTGGGGAGGGAATGAC -3'

Sequencing Primer
(F):5'- CCCAATACTATTTGTTAGCAAGTTGG -3'
(R):5'- GGGAATGACAAATCTGAAACCCTTC -3'
Posted On 2017-02-10