Incidental Mutation 'R5777:Hexa'
ID 446768
Institutional Source Beutler Lab
Gene Symbol Hexa
Ensembl Gene ENSMUSG00000025232
Gene Name hexosaminidase A
Synonyms Hex-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # R5777 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 59446966-59472392 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 59468243 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 290 (V290G)
Ref Sequence ENSEMBL: ENSMUSP00000026262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026262]
AlphaFold P29416
Predicted Effect probably damaging
Transcript: ENSMUST00000026262
AA Change: V290G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000026262
Gene: ENSMUSG00000025232
AA Change: V290G

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrp T C 8: 106,294,000 (GRCm39) E41G probably benign Het
Amph A T 13: 19,230,186 (GRCm39) N45Y probably damaging Het
Atp11a T A 8: 12,882,522 (GRCm39) L470Q probably damaging Het
C130073F10Rik T A 4: 101,747,946 (GRCm39) Y76F possibly damaging Het
Casp12 A T 9: 5,354,548 (GRCm39) I306F probably benign Het
Cobll1 A T 2: 64,933,612 (GRCm39) M460K probably benign Het
Col6a4 A T 9: 105,890,895 (GRCm39) L1800I possibly damaging Het
Ctdsp1 T C 1: 74,433,227 (GRCm39) V131A probably damaging Het
Ctnna3 A G 10: 64,511,664 (GRCm39) H618R probably benign Het
Dhx38 C A 8: 110,283,534 (GRCm39) V538L possibly damaging Het
Dtwd1 A G 2: 126,001,733 (GRCm39) D151G probably damaging Het
Fbxw28 A G 9: 109,167,604 (GRCm39) L51P probably damaging Het
Gm4781 C T 10: 100,232,831 (GRCm39) noncoding transcript Het
Gm5134 C A 10: 75,840,594 (GRCm39) F479L probably benign Het
H2bc27 A G 11: 58,839,835 (GRCm39) K24E probably benign Het
Ifi206 C T 1: 173,308,928 (GRCm39) R356K possibly damaging Het
Kcnj12 G A 11: 60,961,277 (GRCm39) R525Q possibly damaging Het
Lrp2 A T 2: 69,285,869 (GRCm39) I3774N probably damaging Het
Msh4 C A 3: 153,569,076 (GRCm39) M832I probably benign Het
Myh10 A G 11: 68,676,685 (GRCm39) E852G probably damaging Het
Ndufaf1 A T 2: 119,490,963 (GRCm39) C32* probably null Het
Nos2 A G 11: 78,830,978 (GRCm39) E387G probably null Het
Or4f58 C T 2: 111,851,876 (GRCm39) G108R probably damaging Het
Or55b10 A G 7: 102,143,178 (GRCm39) V268A probably benign Het
Or5h27 T A 16: 59,006,266 (GRCm39) L193F unknown Het
Or7a36 A C 10: 78,820,512 (GRCm39) D296A possibly damaging Het
Or7g29 A T 9: 19,287,014 (GRCm39) H54Q probably benign Het
Or8j3c A G 2: 86,253,669 (GRCm39) V117A probably benign Het
P3h3 T C 6: 124,832,921 (GRCm39) T211A probably benign Het
Pcdh7 A G 5: 57,876,856 (GRCm39) N137S probably damaging Het
Pgf T C 12: 85,216,148 (GRCm39) T157A possibly damaging Het
Prex1 T C 2: 166,428,579 (GRCm39) D714G probably damaging Het
Scn7a T C 2: 66,522,913 (GRCm39) I930M probably damaging Het
Siglecg T C 7: 43,058,837 (GRCm39) S197P possibly damaging Het
Skint7 T A 4: 111,845,289 (GRCm39) I367N probably benign Het
Slfn5 A T 11: 82,851,830 (GRCm39) D652V probably damaging Het
Stx1b G A 7: 127,410,090 (GRCm39) Q3* probably null Het
Tex35 T C 1: 156,934,777 (GRCm39) M46V probably benign Het
Tkt A C 14: 30,280,733 (GRCm39) T55P possibly damaging Het
Trim30c T C 7: 104,032,538 (GRCm39) R263G probably benign Het
U2af2 G A 7: 5,069,450 (GRCm39) R33Q probably benign Het
Washc4 T A 10: 83,391,469 (GRCm39) V182D probably damaging Het
Xirp2 T C 2: 67,340,348 (GRCm39) V863A possibly damaging Het
Zfp976 T G 7: 42,263,504 (GRCm39) H111P probably benign Het
Zfp982 A T 4: 147,595,321 (GRCm39) N48Y probably damaging 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
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
R8550:Hexa UTSW 9 59,468,182 (GRCm39) missense probably benign 0.01
R9418:Hexa UTSW 9 59,464,592 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- TTGTGAGTACCCAGCACTGC -3'
(R):5'- TGAGACATGGCTCCCTTAGAG -3'

Sequencing Primer
(F):5'- CTGCACGTGTGGATGAACAGTC -3'
(R):5'- ACATGGCTCCCTTAGAGGTGAG -3'
Posted On 2016-12-15