Incidental Mutation 'IGL02010:Hexb'
ID183293
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hexb
Ensembl Gene ENSMUSG00000021665
Gene Namehexosaminidase B
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02010
Quality Score
Status
Chromosome13
Chromosomal Location97176331-97198357 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 97176845 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 501 (L501P)
Ref Sequence ENSEMBL: ENSMUSP00000022169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022169] [ENSMUST00000022170] [ENSMUST00000042084] [ENSMUST00000161639] [ENSMUST00000161825]
Predicted Effect probably benign
Transcript: ENSMUST00000022169
AA Change: L501P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000022169
Gene: ENSMUSG00000021665
AA Change: L501P

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: ENSMUST00000161843
Coding Region Coverage
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930452B06Rik A T 14: 8,578,384 H119Q possibly damaging Het
Abca6 T C 11: 110,219,616 D569G probably benign Het
Abhd17b C T 19: 21,684,121 T224I probably benign Het
Atf6b T A 17: 34,654,652 S695R probably benign Het
BC027072 T A 17: 71,749,464 T1073S probably benign Het
Cdh6 A C 15: 13,034,190 probably benign Het
Cep290 T C 10: 100,561,345 S2156P probably benign Het
Cep290 G T 10: 100,508,707 C462F probably benign Het
Cit T C 5: 115,875,947 F240L probably damaging Het
Col1a2 T A 6: 4,512,416 probably null Het
Ctcf T A 8: 105,664,965 H297Q probably damaging Het
Dhx29 T C 13: 112,966,634 probably null Het
Dhx37 T G 5: 125,418,713 T835P possibly damaging Het
Enc1 C T 13: 97,245,080 L33F possibly damaging Het
Epyc T A 10: 97,649,701 M1K probably null Het
F10 T C 8: 13,048,292 I165T probably damaging Het
Fam124a T C 14: 62,587,279 L74P probably damaging Het
Fam234b A G 6: 135,209,407 S138G probably benign Het
Fam81a T C 9: 70,099,137 K198E probably benign Het
Fbn2 T C 18: 58,037,722 Y2199C probably damaging Het
Fign A C 2: 63,980,400 S175R probably damaging Het
Grik1 T C 16: 88,051,508 N124S possibly damaging Het
Hdac9 G T 12: 34,431,945 L175M probably damaging Het
Hephl1 A C 9: 15,090,556 Y163* probably null Het
Hes1 G A 16: 30,067,310 G244D probably damaging Het
Igkv5-45 T C 6: 69,775,952 I49V probably benign Het
Ipo5 T C 14: 120,933,377 S491P probably benign Het
Jakmip2 C T 18: 43,559,093 probably null Het
Lrfn5 A G 12: 61,839,683 T86A probably damaging Het
Lrp1b T C 2: 41,468,942 T640A probably damaging Het
M6pr G T 6: 122,315,126 R139L possibly damaging Het
Myl9 A T 2: 156,778,659 N39Y probably damaging Het
Nlrp3 A G 11: 59,549,535 D646G probably benign Het
Nlrp5 A T 7: 23,417,372 M174L probably benign Het
Nnmt T A 9: 48,592,031 I232F probably damaging Het
Nrg1 T C 8: 31,918,143 T21A probably benign Het
Olfr1095 C T 2: 86,851,197 C167Y possibly damaging Het
Olfr808 A G 10: 129,768,267 Y257C probably benign Het
Pcdh7 T G 5: 58,129,255 N1224K probably benign Het
Pde4a T C 9: 21,203,554 probably null Het
Pfkfb3 T C 2: 11,483,994 T320A probably benign Het
Plekhm2 T C 4: 141,637,419 probably benign Het
Rabgap1l C T 1: 160,472,071 R584H probably damaging Het
Rnf157 T A 11: 116,396,226 N57I probably damaging Het
Rtf1 G A 2: 119,701,266 probably null Het
Sap130 C A 18: 31,649,602 R189S probably damaging Het
Slc17a2 T G 13: 23,819,042 V225G probably benign Het
Smg1 T C 7: 118,186,146 probably benign Het
Tecta G A 9: 42,337,193 T1971I probably damaging Het
Tmem136 A T 9: 43,111,564 V165E probably damaging Het
Tmem263 T A 10: 85,114,410 S22T probably benign Het
Tnrc18 A T 5: 142,787,294 F410L unknown Het
Ttc27 T G 17: 74,780,911 probably benign Het
Vmn1r45 A T 6: 89,933,686 C101S probably damaging Het
Wdr17 T C 8: 54,659,703 K781E probably damaging Het
Xkr6 C T 14: 63,819,204 T188M probably benign Het
Other mutations in Hexb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Hexb APN 13 97181929 missense probably damaging 1.00
IGL02126:Hexb APN 13 97178024 missense possibly damaging 0.93
IGL02303:Hexb APN 13 97176893 missense probably damaging 1.00
IGL02955:Hexb APN 13 97181076 utr 3 prime probably benign
IGL02988:Hexb UTSW 13 97198221 missense unknown
R0311:Hexb UTSW 13 97183819 unclassified probably benign
R0470:Hexb UTSW 13 97177999 missense probably damaging 0.97
R0520:Hexb UTSW 13 97181110 missense probably benign 0.00
R0893:Hexb UTSW 13 97185627 missense probably benign 0.02
R1869:Hexb UTSW 13 97191259 missense probably benign
R2295:Hexb UTSW 13 97185612 missense probably damaging 1.00
R2884:Hexb UTSW 13 97183700 missense probably damaging 1.00
R4237:Hexb UTSW 13 97176751 intron probably benign
R4238:Hexb UTSW 13 97176751 intron probably benign
R4239:Hexb UTSW 13 97176751 intron probably benign
R4689:Hexb UTSW 13 97181092 missense probably damaging 1.00
R5166:Hexb UTSW 13 97182004 missense probably benign 0.13
R6665:Hexb UTSW 13 97179385 missense probably benign 0.01
R7379:Hexb UTSW 13 97181164 missense probably damaging 1.00
R7553:Hexb UTSW 13 97198173 missense probably benign 0.01
R8307:Hexb UTSW 13 97194199 missense probably benign 0.02
Posted On2014-05-07