Incidental Mutation 'IGL02010:Hexb'
| ID |
183293 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hexb
|
| Ensembl Gene |
ENSMUSG00000021665 |
| Gene Name |
hexosaminidase B |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02010
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
97312839-97334865 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97313353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
P20060 |
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,110,442 (GRCm39) |
D569G |
probably benign |
Het |
| Abhd17b |
C |
T |
19: 21,661,485 (GRCm39) |
T224I |
probably benign |
Het |
| Atf6b |
T |
A |
17: 34,873,626 (GRCm39) |
S695R |
probably benign |
Het |
| Cdh6 |
A |
C |
15: 13,034,276 (GRCm39) |
|
probably benign |
Het |
| Cep290 |
G |
T |
10: 100,344,569 (GRCm39) |
C462F |
probably benign |
Het |
| Cep290 |
T |
C |
10: 100,397,207 (GRCm39) |
S2156P |
probably benign |
Het |
| Cfap20dc |
A |
T |
14: 8,578,384 (GRCm38) |
H119Q |
possibly damaging |
Het |
| Cit |
T |
C |
5: 116,014,006 (GRCm39) |
F240L |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,512,416 (GRCm39) |
|
probably null |
Het |
| Ctcf |
T |
A |
8: 106,391,597 (GRCm39) |
H297Q |
probably damaging |
Het |
| Dhx29 |
T |
C |
13: 113,103,168 (GRCm39) |
|
probably null |
Het |
| Dhx37 |
T |
G |
5: 125,495,777 (GRCm39) |
T835P |
possibly damaging |
Het |
| Enc1 |
C |
T |
13: 97,381,588 (GRCm39) |
L33F |
possibly damaging |
Het |
| Epyc |
T |
A |
10: 97,485,563 (GRCm39) |
M1K |
probably null |
Het |
| F10 |
T |
C |
8: 13,098,292 (GRCm39) |
I165T |
probably damaging |
Het |
| Fam124a |
T |
C |
14: 62,824,728 (GRCm39) |
L74P |
probably damaging |
Het |
| Fam234b |
A |
G |
6: 135,186,405 (GRCm39) |
S138G |
probably benign |
Het |
| Fam81a |
T |
C |
9: 70,006,419 (GRCm39) |
K198E |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,170,794 (GRCm39) |
Y2199C |
probably damaging |
Het |
| Fign |
A |
C |
2: 63,810,744 (GRCm39) |
S175R |
probably damaging |
Het |
| Grik1 |
T |
C |
16: 87,848,396 (GRCm39) |
N124S |
possibly damaging |
Het |
| Hdac9 |
G |
T |
12: 34,481,944 (GRCm39) |
L175M |
probably damaging |
Het |
| Hephl1 |
A |
C |
9: 15,001,852 (GRCm39) |
Y163* |
probably null |
Het |
| Hes1 |
G |
A |
16: 29,886,128 (GRCm39) |
G244D |
probably damaging |
Het |
| Igkv5-43 |
T |
C |
6: 69,752,936 (GRCm39) |
I49V |
probably benign |
Het |
| Ipo5 |
T |
C |
14: 121,170,789 (GRCm39) |
S491P |
probably benign |
Het |
| Jakmip2 |
C |
T |
18: 43,692,158 (GRCm39) |
|
probably null |
Het |
| Lrfn5 |
A |
G |
12: 61,886,469 (GRCm39) |
T86A |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,358,954 (GRCm39) |
T640A |
probably damaging |
Het |
| M6pr |
G |
T |
6: 122,292,085 (GRCm39) |
R139L |
possibly damaging |
Het |
| Myl9 |
A |
T |
2: 156,620,579 (GRCm39) |
N39Y |
probably damaging |
Het |
| Nlrp3 |
A |
G |
11: 59,440,361 (GRCm39) |
D646G |
probably benign |
Het |
| Nlrp5 |
A |
T |
7: 23,116,797 (GRCm39) |
M174L |
probably benign |
Het |
| Nnmt |
T |
A |
9: 48,503,331 (GRCm39) |
I232F |
probably damaging |
Het |
| Nrg1 |
T |
C |
8: 32,408,171 (GRCm39) |
T21A |
probably benign |
Het |
| Or5t15 |
C |
T |
2: 86,681,541 (GRCm39) |
C167Y |
possibly damaging |
Het |
| Or6c65 |
A |
G |
10: 129,604,136 (GRCm39) |
Y257C |
probably benign |
Het |
| Pcare |
T |
A |
17: 72,056,459 (GRCm39) |
T1073S |
probably benign |
Het |
| Pcdh7 |
T |
G |
5: 58,286,597 (GRCm39) |
N1224K |
probably benign |
Het |
| Pde4a |
T |
C |
9: 21,114,850 (GRCm39) |
|
probably null |
Het |
| Pfkfb3 |
T |
C |
2: 11,488,805 (GRCm39) |
T320A |
probably benign |
Het |
| Plekhm2 |
T |
C |
4: 141,364,730 (GRCm39) |
|
probably benign |
Het |
| Rabgap1l |
C |
T |
1: 160,299,641 (GRCm39) |
R584H |
probably damaging |
Het |
| Rnf157 |
T |
A |
11: 116,287,052 (GRCm39) |
N57I |
probably damaging |
Het |
| Rtf1 |
G |
A |
2: 119,531,747 (GRCm39) |
|
probably null |
Het |
| Sap130 |
C |
A |
18: 31,782,655 (GRCm39) |
R189S |
probably damaging |
Het |
| Slc34a1 |
T |
G |
13: 24,003,025 (GRCm39) |
V225G |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,785,369 (GRCm39) |
|
probably benign |
Het |
| Tecta |
G |
A |
9: 42,248,489 (GRCm39) |
T1971I |
probably damaging |
Het |
| Tlcd5 |
A |
T |
9: 43,022,859 (GRCm39) |
V165E |
probably damaging |
Het |
| Tmem263 |
T |
A |
10: 84,950,274 (GRCm39) |
S22T |
probably benign |
Het |
| Tnrc18 |
A |
T |
5: 142,773,049 (GRCm39) |
F410L |
unknown |
Het |
| Ttc27 |
T |
G |
17: 75,087,906 (GRCm39) |
|
probably benign |
Het |
| Vmn1r45 |
A |
T |
6: 89,910,668 (GRCm39) |
C101S |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,112,738 (GRCm39) |
K781E |
probably damaging |
Het |
| Xkr6 |
C |
T |
14: 64,056,653 (GRCm39) |
T188M |
probably benign |
Het |
|
| Other mutations in Hexb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Hexb
|
APN |
13 |
97,318,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
R0520:Hexb
|
UTSW |
13 |
97,317,618 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation