Incidental Mutation 'R7851:Hyal6'
ID 606927
Institutional Source Beutler Lab
Gene Symbol Hyal6
Ensembl Gene ENSMUSG00000029679
Gene Name hyaluronoglucosaminidase 6
Synonyms Hyal-ps1, 4932701A20Rik
MMRRC Submission 045904-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R7851 (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 A at 24734497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 143 (D143E)
Ref Sequence ENSEMBL: ENSMUSP00000031690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031690]
AlphaFold Q9D4E9
Predicted Effect probably benign
Transcript: ENSMUST00000031690
AA Change: D143E

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000031690
Gene: ENSMUSG00000029679
AA Change: D143E

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: 99.0%
Validation Efficiency 100% (62/62)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 T A 11: 101,300,838 (GRCm39) probably null Het
Abcc3 A T 11: 94,250,486 (GRCm39) L905* probably null Het
Adamts9 T G 6: 92,885,687 (GRCm39) D401A probably damaging Het
Ankmy1 T C 1: 92,799,444 (GRCm39) K918E probably damaging Het
Arfgef3 T C 10: 18,468,034 (GRCm39) N1722S probably damaging Het
Arhgef18 A G 8: 3,498,409 (GRCm39) I481V possibly damaging Het
Asxl3 T C 18: 22,650,279 (GRCm39) I756T possibly damaging Het
Atp6v0b A G 4: 117,743,062 (GRCm39) F49S probably damaging Het
Baz2b C A 2: 59,767,060 (GRCm39) E107D probably damaging Het
Calcoco2 GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,808 (GRCm39) probably benign Het
Cd2ap A G 17: 43,135,363 (GRCm39) probably null Het
Cnn3 T A 3: 121,250,992 (GRCm39) Y304N possibly damaging Het
Cnot2 G A 10: 116,373,337 (GRCm39) S22L possibly damaging Het
Coq6 A T 12: 84,418,929 (GRCm39) H311L possibly damaging Het
Csf2rb2 T C 15: 78,173,137 (GRCm39) N350S probably benign Het
Dhrs9 T A 2: 69,231,600 (GRCm39) N253K probably benign Het
Dok7 T A 5: 35,214,280 (GRCm39) M1K probably null Het
Eogt T A 6: 97,097,162 (GRCm39) E313D probably benign Het
Etl4 T C 2: 20,748,951 (GRCm39) S430P probably damaging Het
Gfod2 T A 8: 106,454,762 (GRCm39) E39D probably benign Het
Gfral T C 9: 76,112,737 (GRCm39) N65D probably benign Het
Gsdmc4 A T 15: 63,774,595 (GRCm39) L62* probably null Het
Gyg1 T G 3: 20,176,911 (GRCm39) M360L probably benign Het
Hsp90ab1 A T 17: 45,881,378 (GRCm39) S255T probably benign Het
Ipp C T 4: 116,372,672 (GRCm39) Q234* probably null Het
Ism1 A T 2: 139,599,185 (GRCm39) D386V probably damaging Het
Jrkl T C 9: 13,244,354 (GRCm39) T436A probably benign Het
Mup3 A C 4: 62,003,494 (GRCm39) I125S possibly damaging Het
Myh6 T A 14: 55,190,508 (GRCm39) E1003V possibly damaging Het
Neb T A 2: 52,043,076 (GRCm39) I6785F probably benign Het
Odad4 C T 11: 100,436,655 (GRCm39) T10I probably damaging Het
Or11g24 A G 14: 50,662,827 (GRCm39) T284A probably damaging Het
Or11h4b A G 14: 50,918,915 (GRCm39) Y59H probably damaging Het
Or1j4 T A 2: 36,740,428 (GRCm39) Y123* probably null Het
Or2w25 T C 11: 59,504,789 (GRCm39) V333A probably benign Het
Or6c5c G T 10: 129,299,429 (GRCm39) V295L probably benign Het
Pamr1 A T 2: 102,416,945 (GRCm39) T86S probably benign Het
Pced1a A T 2: 130,264,236 (GRCm39) M168K probably damaging Het
Pigs T C 11: 78,227,613 (GRCm39) L259P probably damaging Het
Plch1 T C 3: 63,605,855 (GRCm39) S1350G probably damaging Het
Prickle1 G A 15: 93,398,440 (GRCm39) T796I possibly damaging Het
Ptcd3 T C 6: 71,879,843 (GRCm39) I138M probably damaging Het
Ptprs T C 17: 56,732,482 (GRCm39) E958G probably benign Het
Rcn3 A T 7: 44,736,236 (GRCm39) D157E probably benign Het
Rft1 T C 14: 30,412,540 (GRCm39) S534P probably benign Het
Ryr3 T C 2: 112,508,862 (GRCm39) T3371A probably benign Het
Scn10a A T 9: 119,446,828 (GRCm39) V1399D probably damaging Het
Sec61a1 T C 6: 88,489,147 (GRCm39) T185A probably benign Het
Sgsm3 G A 15: 80,894,954 (GRCm39) V607M probably damaging Het
Smurf2 T C 11: 106,721,752 (GRCm39) Y581C probably damaging Het
Snx8 C A 5: 140,343,914 (GRCm39) V101L probably damaging Het
Sp100 A T 1: 85,634,647 (GRCm39) K180M probably benign Het
Spire2 T A 8: 124,083,438 (GRCm39) probably null Het
St6galnac2 A G 11: 116,576,764 (GRCm39) S86P probably benign Het
Sybu G A 15: 44,609,852 (GRCm39) Q139* probably null Het
Tas2r114 T A 6: 131,666,888 (GRCm39) I47F probably damaging Het
Tcf21 T C 10: 22,695,747 (GRCm39) D19G probably benign Het
Terb2 T C 2: 122,016,794 (GRCm39) F9L probably damaging Het
Tlr1 T C 5: 65,082,307 (GRCm39) T757A possibly damaging Het
Tmco1 C T 1: 167,136,255 (GRCm39) probably benign Het
Tshz3 T C 7: 36,471,014 (GRCm39) F1001S probably damaging Het
Vmn2r62 G A 7: 42,438,539 (GRCm39) T99I probably benign Het
Wdr7 A T 18: 63,853,398 (GRCm39) T33S 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
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'- TCCTTTCGAAACTCAGAGTGG -3'
(R):5'- GGTCTCATTTCTAAAGCCAACG -3'

Sequencing Primer
(F):5'- CCGTATTTTATCCAAAGGAACTCGGG -3'
(R):5'- CTCATTTCTAAAGCCAACGTGAGAG -3'
Posted On 2019-12-20