Incidental Mutation 'R7630:Hyal6'
ID 589592
Institutional Source Beutler Lab
Gene Symbol Hyal6
Ensembl Gene ENSMUSG00000029679
Gene Name hyaluronoglucosaminidase 6
Synonyms Hyal-ps1, 4932701A20Rik
MMRRC Submission 045691-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R7630 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 24733244-24745451 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24734583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 172 (V172A)
Ref Sequence ENSEMBL: ENSMUSP00000031690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031690]
AlphaFold Q9D4E9
Predicted Effect probably damaging
Transcript: ENSMUST00000031690
AA Change: V172A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031690
Gene: ENSMUSG00000029679
AA Change: V172A

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 93% (40/43)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530084C06Rik G T 13: 31,742,978 (GRCm39) R92S unknown Het
Agbl1 A T 7: 76,535,904 (GRCm39) I1019F unknown Het
Arhgap15 A G 2: 43,670,648 (GRCm39) T11A probably benign Het
Armh1 C A 4: 117,070,938 (GRCm39) A396S probably benign Het
Atg2b T C 12: 105,613,213 (GRCm39) probably null Het
Aup1 C A 6: 83,031,904 (GRCm39) D50E unknown Het
Ccl25 A G 8: 4,403,955 (GRCm39) Y49C probably damaging Het
Cnga3 A G 1: 37,297,127 (GRCm39) D148G probably damaging Het
Cpeb3 A T 19: 37,031,693 (GRCm39) F570I probably damaging Het
Cyp3a16 T A 5: 145,373,120 (GRCm39) probably null Het
Eif2d C T 1: 131,082,103 (GRCm39) T65M probably benign Het
Fryl T C 5: 73,267,588 (GRCm39) I426V possibly damaging Het
Hgf T C 5: 16,803,248 (GRCm39) S387P probably benign Het
Il10ra T C 9: 45,167,369 (GRCm39) D396G probably damaging Het
Kif26a A G 12: 112,142,131 (GRCm39) D795G probably damaging Het
Lrrc8c T A 5: 105,755,568 (GRCm39) S448T probably damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Notch2 A G 3: 98,044,824 (GRCm39) D1582G possibly damaging Het
Or14c42-ps1 T C 7: 86,211,680 (GRCm39) S247P probably damaging Het
Or1l4b A C 2: 37,036,371 (GRCm39) D49A probably damaging Het
Osmr T C 15: 6,846,452 (GRCm39) I741V possibly damaging Het
Plec C T 15: 76,074,816 (GRCm39) probably null Het
Prkag3 A G 1: 74,783,894 (GRCm39) F330L probably damaging Het
Prkn A G 17: 11,456,455 (GRCm39) E93G probably benign Het
Rexo4 A T 2: 26,850,622 (GRCm39) F247I probably damaging Het
Rph3a T C 5: 121,081,113 (GRCm39) D628G probably damaging Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Rxylt1 T C 10: 121,931,865 (GRCm39) I103V possibly damaging Het
Scnn1g T C 7: 121,359,704 (GRCm39) S396P probably damaging Het
Slc1a5 G A 7: 16,529,732 (GRCm39) V384M probably damaging Het
Sltm C G 9: 70,493,955 (GRCm39) P802R possibly damaging Het
Smc4 CTA CTATA 3: 68,925,400 (GRCm39) probably benign Het
Synpo2 A G 3: 122,873,681 (GRCm39) V1154A probably damaging Het
Tanc2 T C 11: 105,667,734 (GRCm39) V105A probably benign Het
Tapbp T C 17: 34,139,318 (GRCm39) S105P probably benign Het
Tmem79 T C 3: 88,240,768 (GRCm39) E60G possibly damaging Het
Txnrd2 A G 16: 18,257,140 (GRCm39) D152G possibly damaging Het
Vcl T A 14: 21,033,470 (GRCm39) L142* probably null Het
Vmn2r58 T C 7: 41,513,611 (GRCm39) Y344C probably damaging Het
Vmn2r-ps117 A G 17: 19,044,909 (GRCm39) D442G probably benign Het
Xpo6 A T 7: 125,739,561 (GRCm39) probably null 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
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'- GTGGAATACCTCAGAAAGTGAACC -3'
(R):5'- TCATCATCTGGGCAACTTCCTG -3'

Sequencing Primer
(F):5'- TCAGAAAGTGAACCTCTCTGAG -3'
(R):5'- ATCTGGGCAACTTCCTGTGTAGAAC -3'
Posted On 2019-10-24