Incidental Mutation 'R8550:Hexa'
ID 659827
Institutional Source Beutler Lab
Gene Symbol Hexa
Ensembl Gene ENSMUSG00000025232
Gene Name hexosaminidase A
Synonyms Hex-1
MMRRC Submission 068515-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.225) question?
Stock # R8550 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 59446966-59472392 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 59468182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 270 (A270T)
Ref Sequence ENSEMBL: ENSMUSP00000026262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026262]
AlphaFold P29416
Predicted Effect probably benign
Transcript: ENSMUST00000026262
AA Change: A270T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000026262
Gene: ENSMUSG00000025232
AA Change: A270T

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Glycohydro_20b2 23 145 3e-25 PFAM
Pfam:Glyco_hydro_20 167 487 1.6e-88 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (39/39)
MGI Phenotype FUNCTION: This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mice lacking the encoded protein exhibit accumulation of gangliosides in the brain and membranous cytoplasmic bodies in neurons. Certain mutations in the human ortholog of this gene cause Tay-Sachs disease. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous mutants accumulate excess amounts of GM2 ganglioside that is stored in neurons as membranous cytoplasmic bodies typically seen in the neurons of Tay-Sachs disease patients. However, the mutant mice appear to be functionally normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T A 2: 35,265,786 (GRCm39) K295* probably null Het
AB124611 A T 9: 21,451,882 (GRCm39) D146V probably damaging Het
Adgrl3 A T 5: 81,942,599 (GRCm39) T1469S possibly damaging Het
Anxa7 G A 14: 20,506,593 (GRCm39) T449M probably damaging Het
Birc6 T G 17: 74,864,949 (GRCm39) S236R probably benign Het
C1qc C T 4: 136,617,587 (GRCm39) V170I possibly damaging Het
Ccl25 A G 8: 4,377,890 (GRCm39) E50G possibly damaging Het
Clk1 A T 1: 58,451,835 (GRCm39) Y427N probably damaging Het
Cul9 C A 17: 46,830,772 (GRCm39) C1707F probably damaging Het
Cyp4f17 G A 17: 32,746,936 (GRCm39) V413I probably benign Het
Ddc A G 11: 11,785,743 (GRCm39) W315R probably damaging Het
Degs1l A T 1: 180,887,324 (GRCm39) D303V probably damaging Het
Eif1ad15 T C 12: 88,290,652 (GRCm39) probably benign Het
Eogt A C 6: 97,089,033 (GRCm39) H524Q probably benign Het
Eya4 G A 10: 22,982,157 (GRCm39) H601Y probably damaging Het
Hmcn2 T C 2: 31,240,654 (GRCm39) probably null Het
Ighv5-17 A T 12: 113,822,904 (GRCm39) S72R possibly damaging Het
Itgad A G 7: 127,803,064 (GRCm39) T7A probably damaging Het
Mapk8 A T 14: 33,124,615 (GRCm39) I139N probably damaging Het
Metap1 G A 3: 138,172,077 (GRCm39) A280V possibly damaging Het
Mrpl35 T C 6: 71,793,259 (GRCm39) K131E probably damaging Het
Neb A G 2: 52,188,924 (GRCm39) V802A probably benign Het
Nlrp3 T G 11: 59,440,097 (GRCm39) V558G probably damaging Het
Nr3c1 A T 18: 39,619,842 (GRCm39) N148K possibly damaging Het
Or3a1c A C 11: 74,046,015 (GRCm39) I12L probably benign Het
Padi6 T C 4: 140,460,014 (GRCm39) K359R probably benign Het
Rexo5 A G 7: 119,400,568 (GRCm39) T118A probably benign Het
Serpine1 A G 5: 137,092,352 (GRCm39) V385A probably damaging Het
Slc25a25 A G 2: 32,306,205 (GRCm39) I485T probably damaging Het
Slc26a3 A T 12: 31,511,739 (GRCm39) L441F probably damaging Het
Spta1 A T 1: 174,014,774 (GRCm39) D418V probably damaging Het
Supt20 T C 3: 54,623,063 (GRCm39) V511A possibly damaging Het
Tfap2a T C 13: 40,882,225 (GRCm39) T21A probably damaging Het
Tia1 A G 6: 86,402,684 (GRCm39) M232V probably benign Het
Tmem132a T C 19: 10,837,745 (GRCm39) T522A probably benign Het
Top2a A T 11: 98,886,744 (GRCm39) D1336E probably benign Het
Trav3-1 A C 14: 52,818,390 (GRCm39) R21S probably benign Het
Utrn C A 10: 12,689,329 (GRCm39) probably benign Het
Vmn1r119 A T 7: 20,745,980 (GRCm39) V134D probably benign Het
Zfta T C 19: 7,400,320 (GRCm39) M262T probably benign Het
Other mutations in Hexa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01877:Hexa APN 9 59,471,163 (GRCm39) splice site probably benign
IGL02078:Hexa APN 9 59,464,586 (GRCm39) missense probably benign 0.36
R0098:Hexa UTSW 9 59,465,383 (GRCm39) missense probably damaging 1.00
R0098:Hexa UTSW 9 59,465,383 (GRCm39) missense probably damaging 1.00
R0281:Hexa UTSW 9 59,461,509 (GRCm39) critical splice donor site probably null
R0364:Hexa UTSW 9 59,471,218 (GRCm39) missense probably benign 0.00
R0481:Hexa UTSW 9 59,462,693 (GRCm39) splice site probably benign
R1888:Hexa UTSW 9 59,464,586 (GRCm39) missense probably benign 0.36
R1888:Hexa UTSW 9 59,464,586 (GRCm39) missense probably benign 0.36
R2264:Hexa UTSW 9 59,462,660 (GRCm39) missense probably damaging 0.99
R3545:Hexa UTSW 9 59,464,581 (GRCm39) missense probably damaging 0.99
R4609:Hexa UTSW 9 59,464,602 (GRCm39) missense probably benign 0.32
R5777:Hexa UTSW 9 59,468,243 (GRCm39) missense probably damaging 0.99
R6041:Hexa UTSW 9 59,470,519 (GRCm39) missense probably damaging 0.99
R6403:Hexa UTSW 9 59,464,644 (GRCm39) missense probably damaging 1.00
R6776:Hexa UTSW 9 59,465,355 (GRCm39) missense probably damaging 1.00
R6805:Hexa UTSW 9 59,471,220 (GRCm39) missense possibly damaging 0.55
R6912:Hexa UTSW 9 59,447,221 (GRCm39) missense probably damaging 1.00
R7285:Hexa UTSW 9 59,471,222 (GRCm39) missense probably benign 0.02
R7467:Hexa UTSW 9 59,464,683 (GRCm39) critical splice donor site probably null
R7556:Hexa UTSW 9 59,470,582 (GRCm39) missense probably damaging 1.00
R7574:Hexa UTSW 9 59,471,267 (GRCm39) missense probably benign 0.22
R7614:Hexa UTSW 9 59,469,230 (GRCm39) missense probably damaging 1.00
R9418:Hexa UTSW 9 59,464,592 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- ATTCATTGCCAGTAGCCCAG -3'
(R):5'- AGTCCAAAGGCTCCTACCAG -3'

Sequencing Primer
(F):5'- CAGCCTCAGTCTCTGATGGTAG -3'
(R):5'- CCAGCAGGTGAAGTCGAC -3'
Posted On 2021-01-18