Incidental Mutation 'R0520:Hexb'
ID 48473
Institutional Source Beutler Lab
Gene Symbol Hexb
Ensembl Gene ENSMUSG00000021665
Gene Name hexosaminidase B
Synonyms
MMRRC Submission 038713-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0520 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 97312839-97334865 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97317618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 360 (R360G)
Ref Sequence ENSEMBL: ENSMUSP00000022169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022169] [ENSMUST00000022170] [ENSMUST00000042084] [ENSMUST00000161639] [ENSMUST00000161825]
AlphaFold P20060
Predicted Effect probably benign
Transcript: ENSMUST00000022169
AA Change: R360G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000022169
Gene: ENSMUSG00000021665
AA Change: R360G

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:Glycohydro_20b2 35 157 7.1e-24 PFAM
Pfam:Glyco_hydro_20 179 496 1.2e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000022170
SMART Domains Protein: ENSMUSP00000022170
Gene: ENSMUSG00000021666

DomainStartEndE-ValueType
Pfam:GTP_EFTU 66 349 9.9e-64 PFAM
Pfam:GTP_EFTU_D2 379 446 4.3e-8 PFAM
low complexity region 447 473 N/A INTRINSIC
Pfam:EFG_II 482 556 3.9e-29 PFAM
EFG_IV 558 677 2.94e-17 SMART
EFG_C 679 766 1.9e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000042084
SMART Domains Protein: ENSMUSP00000048373
Gene: ENSMUSG00000021666

DomainStartEndE-ValueType
Pfam:GTP_EFTU 68 324 4.6e-64 PFAM
Pfam:GTP_EFTU_D2 354 421 4.2e-8 PFAM
low complexity region 422 448 N/A INTRINSIC
Pfam:EFG_II 457 531 3.7e-29 PFAM
EFG_IV 533 652 2.94e-17 SMART
EFG_C 654 741 1.9e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159321
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160989
Predicted Effect probably benign
Transcript: ENSMUST00000161639
SMART Domains Protein: ENSMUSP00000125656
Gene: ENSMUSG00000021666

DomainStartEndE-ValueType
Pfam:GTP_EFTU 68 351 1.2e-68 PFAM
low complexity region 449 475 N/A INTRINSIC
Pfam:EFG_II 484 558 4.5e-30 PFAM
EFG_IV 560 679 2.94e-17 SMART
EFG_C 681 768 1.9e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161825
SMART Domains Protein: ENSMUSP00000125088
Gene: ENSMUSG00000021666

DomainStartEndE-ValueType
Pfam:GTP_EFTU 68 351 2.3e-64 PFAM
Pfam:GTP_EFTU_D2 381 448 1.1e-8 PFAM
low complexity region 449 475 N/A INTRINSIC
Pfam:EFG_II 484 558 7.1e-30 PFAM
EFG_IV 560 679 2.94e-17 SMART
EFG_C 681 738 3.46e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222700
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 100% (72/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous mutants exhibit spasticity, muscle weakness, rigidity, tremors, and ataxia beginning around 4 months of age and resulting in death about 6 weeks later. Mutants accumulate GM2 ganglioside and glycolipid GA2 in brain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 T C 14: 103,288,952 (GRCm39) I154T possibly damaging Het
Acr G T 15: 89,457,430 (GRCm39) C226F probably damaging Het
Aff1 C T 5: 103,995,617 (GRCm39) R1070* probably null Het
Aldh9a1 C T 1: 167,188,960 (GRCm39) probably benign Het
Apaf1 A T 10: 90,915,851 (GRCm39) H12Q probably damaging Het
Asic1 A T 15: 99,593,416 (GRCm39) I291F probably damaging Het
Aspm T A 1: 139,406,558 (GRCm39) M1815K possibly damaging Het
Asxl3 A T 18: 22,656,043 (GRCm39) D1351V probably damaging Het
Atg9a C T 1: 75,163,178 (GRCm39) W299* probably null Het
B3gntl1 C A 11: 121,514,314 (GRCm39) V313F possibly damaging Het
B4galnt4 T A 7: 140,647,286 (GRCm39) C345* probably null Het
Bicc1 A T 10: 70,793,020 (GRCm39) F211L probably damaging Het
Cachd1 T G 4: 100,754,900 (GRCm39) V117G probably damaging Het
Cdc16 G A 8: 13,810,569 (GRCm39) probably null Het
Cers6 C T 2: 68,935,435 (GRCm39) Q312* probably null Het
Csta2 A G 16: 36,073,461 (GRCm39) I16V probably benign Het
Dclre1c A G 2: 3,437,512 (GRCm39) H115R probably damaging Het
Ddx20 T C 3: 105,594,692 (GRCm39) T18A probably benign Het
Dhx57 A G 17: 80,565,604 (GRCm39) V816A possibly damaging Het
Dlgap1 C T 17: 70,823,989 (GRCm39) Q325* probably null Het
Dnaja1 A T 4: 40,728,072 (GRCm39) M178L probably benign Het
Ecd A T 14: 20,378,732 (GRCm39) S454T probably benign Het
Efcab6 G A 15: 83,834,247 (GRCm39) H454Y probably benign Het
Exo1 T A 1: 175,727,031 (GRCm39) D447E probably benign Het
F5 T G 1: 164,037,156 (GRCm39) I1965S probably benign Het
Fbn2 A G 18: 58,146,821 (GRCm39) C2692R probably damaging Het
Fggy T A 4: 95,489,340 (GRCm39) L152Q probably damaging Het
Glb1 ACCC ACC 9: 114,250,812 (GRCm39) probably null Het
Gm9871 A G 6: 101,778,540 (GRCm39) noncoding transcript Het
Gnai2 A T 9: 107,497,372 (GRCm39) D7E probably benign Het
Gon7 C T 12: 102,724,047 (GRCm39) probably benign Het
H2-K2 A T 17: 34,216,390 (GRCm39) V272E probably damaging Het
Hectd4 G T 5: 121,469,770 (GRCm39) R2555L possibly damaging Het
Igsf9b C A 9: 27,234,546 (GRCm39) S470R probably benign Het
Inpp5d T C 1: 87,633,642 (GRCm39) probably benign Het
Inpp5k C A 11: 75,530,356 (GRCm39) Y265* probably null Het
Klhl33 T G 14: 51,129,140 (GRCm39) E436D probably damaging Het
Krt80 A G 15: 101,267,898 (GRCm39) L13P probably benign Het
Krtap19-2 C T 16: 88,670,749 (GRCm39) probably benign Het
Marchf10 T C 11: 105,280,708 (GRCm39) T526A probably benign Het
Mcrs1 A G 15: 99,146,336 (GRCm39) probably null Het
Msh2 G T 17: 88,024,972 (GRCm39) V617F possibly damaging Het
Nckap1 A C 2: 80,371,874 (GRCm39) probably benign Het
Nek4 T A 14: 30,681,263 (GRCm39) probably benign Het
Or7h8 G A 9: 20,123,791 (GRCm39) V49I probably benign Het
Or8b12b T C 9: 37,684,849 (GRCm39) V298A probably benign Het
Or8k22 G T 2: 86,163,475 (GRCm39) T75K probably damaging Het
Or9s14 T A 1: 92,536,471 (GRCm39) V304E probably damaging Het
Osgin1 A G 8: 120,169,247 (GRCm39) H48R probably damaging Het
Pam T A 1: 97,811,920 (GRCm39) T369S probably benign Het
Pclo C T 5: 14,763,844 (GRCm39) Q821* probably null Het
Plekhm1 T C 11: 103,285,770 (GRCm39) I222V probably benign Het
Ptprg T G 14: 12,199,783 (GRCm38) N65K possibly damaging Het
Pum2 T A 12: 8,771,710 (GRCm39) V351E probably damaging Het
Slc25a54 T A 3: 109,014,546 (GRCm39) probably benign Het
Smchd1 A T 17: 71,736,538 (GRCm39) D587E possibly damaging Het
Stap1 A G 5: 86,238,823 (GRCm39) M164V probably benign Het
Stat5a T C 11: 100,752,252 (GRCm39) V30A probably damaging Het
Stk36 T G 1: 74,641,365 (GRCm39) probably benign Het
Tiam1 G T 16: 89,614,839 (GRCm39) probably benign Het
Tmc5 T C 7: 118,265,799 (GRCm39) M553T probably damaging Het
Tmem14a T A 1: 21,299,636 (GRCm39) Y89N possibly damaging Het
Tpp2 A G 1: 44,029,690 (GRCm39) Y991C probably damaging Het
Ttc7 A G 17: 87,666,579 (GRCm39) K615E possibly damaging Het
Ubac2 C T 14: 122,231,754 (GRCm39) P227S probably damaging Het
Vit A C 17: 78,932,588 (GRCm39) K565T probably damaging Het
Vps13c T C 9: 67,853,133 (GRCm39) F2409L possibly damaging Het
Wdr64 A G 1: 175,553,958 (GRCm39) T173A probably damaging Het
Zfp759 T C 13: 67,285,419 (GRCm39) I60T probably benign Het
Zfp81 A G 17: 33,553,351 (GRCm39) S488P probably damaging Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) probably benign Het
Other mutations in Hexb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Hexb APN 13 97,318,437 (GRCm39) missense probably damaging 1.00
IGL02010:Hexb APN 13 97,313,353 (GRCm39) missense probably benign 0.01
IGL02126:Hexb APN 13 97,314,532 (GRCm39) missense possibly damaging 0.93
IGL02303:Hexb APN 13 97,313,401 (GRCm39) missense probably damaging 1.00
IGL02955:Hexb APN 13 97,317,584 (GRCm39) utr 3 prime probably benign
IGL02988:Hexb UTSW 13 97,334,729 (GRCm39) missense unknown
R0311:Hexb UTSW 13 97,320,327 (GRCm39) unclassified probably benign
R0470:Hexb UTSW 13 97,314,507 (GRCm39) missense probably damaging 0.97
R0893:Hexb UTSW 13 97,322,135 (GRCm39) missense probably benign 0.02
R1869:Hexb UTSW 13 97,327,767 (GRCm39) missense probably benign
R2295:Hexb UTSW 13 97,322,120 (GRCm39) missense probably damaging 1.00
R2884:Hexb UTSW 13 97,320,208 (GRCm39) missense probably damaging 1.00
R4237:Hexb UTSW 13 97,313,259 (GRCm39) intron probably benign
R4238:Hexb UTSW 13 97,313,259 (GRCm39) intron probably benign
R4239:Hexb UTSW 13 97,313,259 (GRCm39) intron probably benign
R4689:Hexb UTSW 13 97,317,600 (GRCm39) missense probably damaging 1.00
R5166:Hexb UTSW 13 97,318,512 (GRCm39) missense probably benign 0.13
R6665:Hexb UTSW 13 97,315,893 (GRCm39) missense probably benign 0.01
R7379:Hexb UTSW 13 97,317,672 (GRCm39) missense probably damaging 1.00
R7553:Hexb UTSW 13 97,334,681 (GRCm39) missense probably benign 0.01
R8307:Hexb UTSW 13 97,330,707 (GRCm39) missense probably benign 0.02
R8830:Hexb UTSW 13 97,330,762 (GRCm39) missense probably benign
R8980:Hexb UTSW 13 97,330,689 (GRCm39) missense probably damaging 0.99
R9144:Hexb UTSW 13 97,317,599 (GRCm39) missense probably damaging 1.00
R9155:Hexb UTSW 13 97,314,414 (GRCm39) missense probably damaging 1.00
R9186:Hexb UTSW 13 97,325,836 (GRCm39) missense probably damaging 1.00
R9393:Hexb UTSW 13 97,313,336 (GRCm39) nonsense probably null
R9546:Hexb UTSW 13 97,322,176 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAATGCCAACAGGCATGGGTAG -3'
(R):5'- TTGCGTCAGCAGATTCAGACTCC -3'

Sequencing Primer
(F):5'- TGAGTCCTAGCACCTGGATAG -3'
(R):5'- AGCAGATTCAGACTCCCTGTG -3'
Posted On 2013-06-12