Incidental Mutation 'R3545:Hexa'
| ID |
268171 |
| 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: 0.225)
|
| Stock # |
R3545 (G1)
|
| Quality Score |
211 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
59446966-59472392 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59464581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 157
(N157S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026262]
|
| AlphaFold |
P29416 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026262
AA Change: N157S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000026262
Gene: ENSMUSG00000025232
AA Change: N157S
| Domain | Start | End | E-Value | Type |
|---|
|
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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd28 |
A |
G |
14: 31,437,217 (GRCm39) |
L646S |
probably benign |
Het |
| Clip1 |
A |
G |
5: 123,769,141 (GRCm39) |
L532P |
probably damaging |
Het |
| Efl1 |
A |
T |
7: 82,412,018 (GRCm39) |
E802D |
probably benign |
Het |
| F11r |
T |
C |
1: 171,288,829 (GRCm39) |
V149A |
probably damaging |
Het |
| Fhit |
T |
C |
14: 9,870,095 (GRCm38) |
T125A |
probably benign |
Het |
| Fmn2 |
A |
G |
1: 174,330,192 (GRCm39) |
D194G |
unknown |
Het |
| Gdi1 |
T |
A |
X: 73,351,414 (GRCm39) |
F175L |
possibly damaging |
Het |
| Herc3 |
T |
C |
6: 58,833,670 (GRCm39) |
S186P |
probably damaging |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Lig1 |
T |
A |
7: 13,026,089 (GRCm39) |
N281K |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 40,490,300 (GRCm39) |
L287H |
probably damaging |
Het |
| Mcf2 |
T |
C |
X: 59,180,806 (GRCm39) |
K74R |
probably damaging |
Het |
| Nat1 |
A |
G |
8: 67,943,684 (GRCm39) |
D23G |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,317,939 (GRCm39) |
F1959L |
probably damaging |
Het |
| Ncf1 |
T |
A |
5: 134,255,463 (GRCm39) |
K143* |
probably null |
Het |
| Nid2 |
T |
A |
14: 19,813,779 (GRCm39) |
Y195N |
probably damaging |
Het |
| Nlrp9a |
T |
C |
7: 26,256,757 (GRCm39) |
I125T |
probably benign |
Het |
| Nme7 |
T |
C |
1: 164,213,351 (GRCm39) |
F343S |
probably damaging |
Het |
| Otud4 |
A |
G |
8: 80,391,684 (GRCm39) |
E443G |
probably damaging |
Het |
| Palld |
G |
T |
8: 62,003,112 (GRCm39) |
A329E |
possibly damaging |
Het |
| Pask |
A |
T |
1: 93,244,837 (GRCm39) |
V1095D |
probably damaging |
Het |
| Pdzd2 |
C |
T |
15: 12,375,557 (GRCm39) |
R1526Q |
probably benign |
Het |
| Prkcq |
A |
G |
2: 11,288,627 (GRCm39) |
K527E |
probably benign |
Het |
| Ramac |
T |
A |
7: 81,418,270 (GRCm39) |
|
probably null |
Het |
| Reln |
A |
G |
5: 22,432,598 (GRCm39) |
V134A |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Septin9 |
T |
C |
11: 117,243,499 (GRCm39) |
I350T |
probably damaging |
Het |
| Slc16a7 |
T |
A |
10: 125,130,569 (GRCm39) |
K39* |
probably null |
Het |
| Spata32 |
T |
C |
11: 103,101,570 (GRCm39) |
E21G |
possibly damaging |
Het |
| Tbc1d1 |
G |
A |
5: 64,443,350 (GRCm39) |
R523Q |
probably damaging |
Het |
| Thnsl1 |
T |
G |
2: 21,217,438 (GRCm39) |
D397E |
probably benign |
Het |
| Tubal3 |
T |
G |
13: 3,983,560 (GRCm39) |
*447G |
probably null |
Het |
| Uprt |
T |
A |
X: 103,526,934 (GRCm39) |
L123H |
probably damaging |
Het |
| Usp9x |
T |
C |
X: 12,994,629 (GRCm39) |
L940P |
probably benign |
Het |
|
| Other mutations in Hexa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- TTTGGCACGGGACAGTTATG -3'
(R):5'- CATCTACACTTTTCCCAGGGG -3'
Sequencing Primer
(F):5'- CACGGGACAGTTATGTGTAGTC -3'
(R):5'- TTTTCCCAGGGGCTCACAGAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation