Incidental Mutation 'R0946:Hyal4'
ID 82095
Institutional Source Beutler Lab
Gene Symbol Hyal4
Ensembl Gene ENSMUSG00000029680
Gene Name hyaluronoglucosaminidase 4
Synonyms 4632428M18Rik
MMRRC Submission 039085-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0946 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 24748366-24766518 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 24755912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 43 (Y43*)
Ref Sequence ENSEMBL: ENSMUSP00000031691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031691]
AlphaFold Q05A56
Predicted Effect probably null
Transcript: ENSMUST00000031691
AA Change: Y43*
SMART Domains Protein: ENSMUSP00000031691
Gene: ENSMUSG00000029680
AA Change: Y43*

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is similar in structure to hyaluronidases. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. However, this protein has not yet been shown to have hyaluronidase activity. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230112D13Rik A G 14: 34,234,099 (GRCm39) M64T unknown Het
Adamts15 C T 9: 30,813,493 (GRCm39) G891R probably damaging Het
Adck5 G A 15: 76,477,486 (GRCm39) V107I possibly damaging Het
Aoc3 G A 11: 101,223,131 (GRCm39) V456M possibly damaging Het
Apbb1 A T 7: 105,223,062 (GRCm39) L183Q probably benign Het
Camsap3 A G 8: 3,654,442 (GRCm39) H693R probably benign Het
Ccdc88a A G 11: 29,406,509 (GRCm39) T414A probably benign Het
Cdh17 T C 4: 11,795,581 (GRCm39) V387A probably benign Het
Coasy G T 11: 100,976,696 (GRCm39) V489F probably damaging Het
Ercc6 A T 14: 32,274,578 (GRCm39) M574L probably benign Het
Esrrb T C 12: 86,552,598 (GRCm39) L180P probably damaging Het
Fam83b A T 9: 76,398,679 (GRCm39) V808D probably damaging Het
Fat3 C T 9: 15,909,100 (GRCm39) V2301I possibly damaging Het
Ftdc1 C A 16: 58,435,075 (GRCm39) R83S probably damaging Het
Hydin C A 8: 111,257,685 (GRCm39) L2372M probably benign Het
Lrrc4c T C 2: 97,459,809 (GRCm39) V145A probably benign Het
Lypd10 A G 7: 24,413,167 (GRCm39) K162R probably benign Het
Muc21 A C 17: 35,929,105 (GRCm39) S1581A probably benign Het
Myh4 A G 11: 67,142,577 (GRCm39) I913V possibly damaging Het
Nat10 C T 2: 103,561,719 (GRCm39) G654D probably damaging Het
Nbn A T 4: 15,970,719 (GRCm39) probably null Het
Nup50l A T 6: 96,142,677 (GRCm39) N122K possibly damaging Het
Oas3 T C 5: 120,907,128 (GRCm39) Y503C unknown Het
Or11g7 C A 14: 50,691,130 (GRCm39) T207K probably benign Het
Pappa G T 4: 65,233,029 (GRCm39) probably null Het
Pfas A G 11: 68,884,121 (GRCm39) probably null Het
Pfas G T 11: 68,881,573 (GRCm39) probably null Het
Pign A T 1: 105,519,422 (GRCm39) M500K probably benign Het
Pkhd1 T C 1: 20,269,605 (GRCm39) K3313R probably benign Het
Ptk2b A G 14: 66,396,047 (GRCm39) V807A probably benign Het
Ptpdc1 C T 13: 48,740,286 (GRCm39) E382K probably damaging Het
Rfpl4b A T 10: 38,696,833 (GRCm39) I256N probably benign Het
Skap1 C G 11: 96,432,295 (GRCm39) S88* probably null Het
Slc4a2 T C 5: 24,640,884 (GRCm39) S742P probably damaging Het
Supv3l1 T C 10: 62,265,599 (GRCm39) D647G probably damaging Het
Tmem184c A C 8: 78,331,386 (GRCm39) V121G probably damaging Het
Tonsl T C 15: 76,507,421 (GRCm39) I118V probably benign Het
Top1 T A 2: 160,554,588 (GRCm39) Y446* probably null Het
Trim37 A G 11: 87,037,781 (GRCm39) R172G probably damaging Het
Vgll4 C A 6: 114,867,768 (GRCm39) probably null Het
Vgll4 T A 6: 114,867,769 (GRCm39) probably null Het
Vmn1r5 T G 6: 56,963,150 (GRCm39) I275S possibly damaging Het
Vwde A T 6: 13,187,874 (GRCm39) H584Q probably damaging Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp282 T A 6: 47,856,943 (GRCm39) W59R probably damaging Het
Zfp329 T A 7: 12,545,395 (GRCm39) N43I probably benign Het
Zswim2 T A 2: 83,754,103 (GRCm39) T186S probably benign Het
Other mutations in Hyal4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Hyal4 APN 6 24,755,871 (GRCm39) missense probably benign 0.03
IGL01791:Hyal4 APN 6 24,763,894 (GRCm39) splice site probably benign
IGL02434:Hyal4 APN 6 24,763,857 (GRCm39) nonsense probably null
IGL02523:Hyal4 APN 6 24,765,968 (GRCm39) missense probably damaging 0.96
IGL03114:Hyal4 APN 6 24,755,964 (GRCm39) missense probably benign 0.00
IGL02835:Hyal4 UTSW 6 24,765,714 (GRCm39) missense probably benign 0.00
PIT4494001:Hyal4 UTSW 6 24,755,833 (GRCm39) missense probably benign 0.05
R0196:Hyal4 UTSW 6 24,756,220 (GRCm39) missense probably damaging 1.00
R0323:Hyal4 UTSW 6 24,756,193 (GRCm39) missense probably benign 0.30
R0398:Hyal4 UTSW 6 24,756,670 (GRCm39) missense probably damaging 0.97
R0961:Hyal4 UTSW 6 24,755,745 (GRCm39) utr 5 prime probably benign
R1906:Hyal4 UTSW 6 24,756,110 (GRCm39) missense probably damaging 1.00
R1998:Hyal4 UTSW 6 24,756,310 (GRCm39) missense probably benign 0.00
R2085:Hyal4 UTSW 6 24,755,749 (GRCm39) start gained probably benign
R2483:Hyal4 UTSW 6 24,765,737 (GRCm39) missense probably damaging 0.96
R3622:Hyal4 UTSW 6 24,765,737 (GRCm39) missense probably damaging 0.96
R3623:Hyal4 UTSW 6 24,765,737 (GRCm39) missense probably damaging 0.96
R3624:Hyal4 UTSW 6 24,765,737 (GRCm39) missense probably damaging 0.96
R3712:Hyal4 UTSW 6 24,756,513 (GRCm39) missense probably damaging 1.00
R4031:Hyal4 UTSW 6 24,756,223 (GRCm39) missense probably damaging 1.00
R5762:Hyal4 UTSW 6 24,765,861 (GRCm39) missense possibly damaging 0.93
R6177:Hyal4 UTSW 6 24,766,089 (GRCm39) nonsense probably null
R6442:Hyal4 UTSW 6 24,765,849 (GRCm39) missense probably benign 0.08
R6494:Hyal4 UTSW 6 24,765,745 (GRCm39) missense possibly damaging 0.79
R6901:Hyal4 UTSW 6 24,756,190 (GRCm39) missense probably damaging 0.97
R7565:Hyal4 UTSW 6 24,765,933 (GRCm39) missense possibly damaging 0.77
R7973:Hyal4 UTSW 6 24,755,785 (GRCm39) start codon destroyed probably null 0.99
R7977:Hyal4 UTSW 6 24,763,865 (GRCm39) missense probably damaging 0.99
R7987:Hyal4 UTSW 6 24,763,865 (GRCm39) missense probably damaging 0.99
R8020:Hyal4 UTSW 6 24,755,995 (GRCm39) missense probably benign 0.14
R8676:Hyal4 UTSW 6 24,755,826 (GRCm39) missense probably damaging 0.99
R9331:Hyal4 UTSW 6 24,765,866 (GRCm39) missense probably damaging 1.00
R9573:Hyal4 UTSW 6 24,756,508 (GRCm39) missense possibly damaging 0.62
Z1176:Hyal4 UTSW 6 24,756,627 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATACCGGCTTTGTAGCCCTTGGAC -3'
(R):5'- TGTGTTTTGGGGAAGACCACCATTG -3'

Sequencing Primer
(F):5'- TTGCTTATCCCCGAGTAGAAAC -3'
(R):5'- TGATGGGTACCCCTTCTGAT -3'
Posted On 2013-11-08