Mutagenetix > Incidental Mutation

Incidental Mutation 'R8830:Hexb'

673768

Institutional Source

Beutler Lab

Gene Symbol

Hexb

Ensembl Gene

ENSMUSG00000021665

Gene Name

hexosaminidase B

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8830 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97312839-97334865 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 97330762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 84 (V84I)

Ref Sequence

ENSEMBL: ENSMUSP00000022169 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022169]

AlphaFold

P20060

Predicted Effect

probably benign
Transcript: ENSMUST00000022169
AA Change: V84I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022169
Gene: ENSMUSG00000021665
AA Change: V84I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (68/68)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	T	3: 59,654,744 (GRCm39)	T193S	probably benign	Het
Abca7	T	A	10: 79,844,805 (GRCm39)	V1509E	probably damaging	Het
Abraxas2	A	G	7: 132,485,085 (GRCm39)	D376G	probably damaging	Het
Agbl1	A	G	7: 75,985,059 (GRCm39)	T159A		Het
Ahnak2	G	A	12: 112,750,656 (GRCm39)	R89W		Het
Ajm1	T	G	2: 25,467,262 (GRCm39)	D883A		Het
Arhgef40	A	C	14: 52,241,165 (GRCm39)	D1396A	probably damaging	Het
Atp13a5	A	T	16: 29,066,928 (GRCm39)	F1060I	probably damaging	Het
Atp6v1c1	T	A	15: 38,677,789 (GRCm39)	F105I	probably damaging	Het
Atp9b	C	T	18: 80,809,015 (GRCm39)	E635K		Het
Brix1	T	A	15: 10,479,682 (GRCm39)	Q124L	possibly damaging	Het
Cep68	A	G	11: 20,180,418 (GRCm39)		probably benign	Het
Cfap46	A	G	7: 139,195,565 (GRCm39)	S2208P	unknown	Het
Crisp1	T	A	17: 40,605,310 (GRCm39)	K234*	probably null	Het
Cryzl1	C	T	16: 91,509,092 (GRCm39)	V70I	probably benign	Het
Cybc1	C	T	11: 121,119,549 (GRCm39)		probably benign	Het
Dnah7b	T	C	1: 46,230,953 (GRCm39)	Y1404H	probably damaging	Het
Dot1l	A	G	10: 80,607,033 (GRCm39)	H109R	possibly damaging	Het
E330034G19Rik	A	C	14: 24,359,576 (GRCm39)	H329P	unknown	Het
Erbb4	A	T	1: 68,114,627 (GRCm39)	L939Q	probably damaging	Het
Fst	A	T	13: 114,592,364 (GRCm39)	C118S	probably damaging	Het
Gfra3	A	G	18: 34,844,189 (GRCm39)	V117A	possibly damaging	Het
Gldc	C	G	19: 30,078,212 (GRCm39)	M928I	probably benign	Het
Greb1	A	G	12: 16,738,520 (GRCm39)	M1481T	probably benign	Het
Hecw2	G	A	1: 53,930,305 (GRCm39)	R1045C	probably damaging	Het
Hpse	T	C	5: 100,843,452 (GRCm39)	E240G	probably benign	Het
Hspa12a	T	C	19: 58,793,895 (GRCm39)	D322G	possibly damaging	Het
Hspa9	A	T	18: 35,081,157 (GRCm39)		probably null	Het
Kif9	A	G	9: 110,353,998 (GRCm39)	K790R	probably damaging	Het
Klc2	C	T	19: 5,160,394 (GRCm39)		probably null	Het
Ldha	C	G	7: 46,499,702 (GRCm39)	N144K	probably benign	Het
Mical2	A	G	7: 111,980,403 (GRCm39)	T126A	probably benign	Het
Mrpl15	A	T	1: 4,852,807 (GRCm39)	V137D	probably damaging	Het
Muc16	G	A	9: 18,557,365 (GRCm39)	T2976I	unknown	Het
Mybpc2	A	T	7: 44,161,965 (GRCm39)	V495D	probably damaging	Het
Or10a5	A	G	7: 106,635,889 (GRCm39)	N176D	probably benign	Het
Or52ab2	A	G	7: 102,970,212 (GRCm39)	K198R		Het
Or6c203	A	T	10: 129,010,715 (GRCm39)	Y58*	probably null	Het
Pcnt	G	A	10: 76,218,008 (GRCm39)	T2089I	probably benign	Het
Pdzd7	T	C	19: 45,021,512 (GRCm39)	D563G	probably damaging	Het
Phlpp1	T	G	1: 106,278,333 (GRCm39)	L915R	probably damaging	Het
Plekhh2	T	A	17: 84,829,231 (GRCm39)	I34N	probably damaging	Het
Pou6f2	T	A	13: 18,553,083 (GRCm39)	T84S		Het
Prxl2c	G	A	13: 64,445,114 (GRCm39)	Q170*	probably null	Het
Ptprq	A	G	10: 107,422,556 (GRCm39)	V1612A	possibly damaging	Het
Pvrig-ps	T	G	5: 138,340,410 (GRCm39)		probably benign	Het
Rasl10b	A	T	11: 83,303,502 (GRCm39)	I20F	probably damaging	Het
Rimbp3	T	A	16: 17,026,870 (GRCm39)	V98E	probably damaging	Het
Rims2	T	C	15: 39,300,758 (GRCm39)	I355T	possibly damaging	Het
Slc1a2	A	G	2: 102,566,360 (GRCm39)	H30R	probably benign	Het
Slc28a1	G	A	7: 80,810,794 (GRCm39)	V389M	possibly damaging	Het
Slc7a13	T	C	4: 19,819,189 (GRCm39)	S130P	probably benign	Het
Sp140	TTTTTTTT	TTTTTTTTTTTTT	1: 85,572,295 (GRCm39)		probably benign	Het
Spag17	T	A	3: 100,032,751 (GRCm39)	H2320Q	possibly damaging	Het
Speer4a1	T	C	5: 26,241,793 (GRCm39)	E111G	possibly damaging	Het
Ss18l1	T	C	2: 179,709,131 (GRCm39)	Y397H	unknown	Het
Tbck	T	C	3: 132,543,818 (GRCm39)	S890P	probably damaging	Het
Tcp11	T	C	17: 28,299,204 (GRCm39)	E17G	probably benign	Het
Tesk2	C	T	4: 116,659,484 (GRCm39)	R315C	probably benign	Het
Tln1	T	C	4: 43,556,383 (GRCm39)	N45S	probably benign	Het
Trim10	C	T	17: 37,180,846 (GRCm39)	P26S	probably damaging	Het
Vmac	C	A	17: 57,022,573 (GRCm39)	G146C	probably damaging	Het
Vmn1r14	G	A	6: 57,211,017 (GRCm39)	M198I	probably damaging	Het
Vmn1r194	T	C	13: 22,429,006 (GRCm39)	Y208H	possibly damaging	Het
Vmn1r78	G	A	7: 11,887,118 (GRCm39)	C243Y	probably damaging	Het
Wasf3	C	T	5: 146,403,672 (GRCm39)	Q261*	probably null	Het
Ybx2	A	G	11: 69,827,063 (GRCm39)	K88R	probably benign	Het
Zfhx4	G	A	3: 5,463,949 (GRCm39)	R1394H	probably damaging	Het
Zfp871	T	C	17: 32,993,901 (GRCm39)	T425A	probably benign	Het
Zfy2	C	T	Y: 2,106,600 (GRCm39)	S678N	possibly damaging	Het
Zswim4	T	C	8: 84,949,945 (GRCm39)	E650G	possibly damaging	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
IGL02010:Hexb	APN	13	97,313,353 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- CTGAAATGGCAGTGGTTAGTTC -3'
(R):5'- CGGGGTTTTCAGAAGGATCC -3'

Sequencing Primer
(F):5'- GGGTAGTTGCCCTGCCTTC -3'
(R):5'- GTTTTCAGAAGGATCCCCCGAC -3'

Posted On

2021-07-15