Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02988:Hexb'

453511

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 #

IGL02988 (G1)

Quality Score

166

Status

Validated

Chromosome

Chromosomal Location

97312839-97334865 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97334729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 14 (L14P)

Ref Sequence

ENSEMBL: ENSMUSP00000022169 (fasta)

Gene Model

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

AlphaFold

P20060

Predicted Effect

unknown
Transcript: ENSMUST00000022169
AA Change: L14P

SMART Domains

Protein: ENSMUSP00000022169
Gene: ENSMUSG00000021665
AA Change: L14P

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

noncoding transcript
Transcript: ENSMUST00000222700

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225592

Meta Mutation Damage Score

0.0957

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (71/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
Aadacl4fm5	T	A	4: 144,513,100 (GRCm39)		probably benign	Het
Adgrd1	G	A	5: 129,221,074 (GRCm39)	A488T	probably benign	Het
Ano3	T	C	2: 110,605,355 (GRCm39)	S284G	probably damaging	Het
Aox1	G	T	1: 58,376,509 (GRCm39)	V897L	probably benign	Het
Arl6	T	A	16: 59,434,209 (GRCm39)		probably null	Het
Blnk	G	A	19: 40,917,660 (GRCm39)	T441M	probably damaging	Het
Casp8ap2	C	T	4: 32,644,590 (GRCm39)	T1221I	probably benign	Het
Cbll1	A	T	12: 31,542,171 (GRCm39)	F63L	possibly damaging	Het
Cdk14	A	G	5: 5,086,484 (GRCm39)	Y279H	probably damaging	Het
Cflar	A	T	1: 58,780,190 (GRCm39)	I265F	possibly damaging	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Cyp3a13	A	T	5: 137,897,272 (GRCm39)	Y347*	probably null	Het
Defa27	T	C	8: 21,805,583 (GRCm39)	S8P	probably damaging	Het
Depdc5	A	C	5: 33,113,511 (GRCm39)		probably null	Het
Dlg5	A	G	14: 24,216,323 (GRCm39)	F573S	probably damaging	Het
Fam20c	A	T	5: 138,741,749 (GRCm39)	E120V	probably benign	Het
Fam53a	T	C	5: 33,764,819 (GRCm39)	K296E	probably damaging	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Fndc1	T	C	17: 7,972,355 (GRCm39)	T1526A	possibly damaging	Het
Gm14325	A	C	2: 177,476,042 (GRCm39)		probably null	Het
Gm7582	G	A	1: 85,019,588 (GRCm39)		noncoding transcript	Het
Golga7b	A	C	19: 42,255,239 (GRCm39)	Y63S	probably damaging	Het
Hsd17b3	A	C	13: 64,236,914 (GRCm39)	L10R	probably damaging	Het
Il6st	T	C	13: 112,635,420 (GRCm39)	F611L	probably damaging	Het
Ints13	T	A	6: 146,457,646 (GRCm39)	T411S	possibly damaging	Het
Kif18b	C	A	11: 102,799,146 (GRCm39)	C685F	probably damaging	Het
Kif5c	A	G	2: 49,509,729 (GRCm39)	N19S	probably damaging	Het
Lmbr1	G	T	5: 29,497,221 (GRCm39)		probably null	Het
Minar1	A	G	9: 89,484,792 (GRCm39)	S202P	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mrc2	G	A	11: 105,216,397 (GRCm39)	R62Q	probably benign	Het
Myo1g	T	C	11: 6,458,183 (GRCm39)		probably benign	Het
Myo5a	A	T	9: 75,037,423 (GRCm39)		probably benign	Het
Nobox	G	A	6: 43,282,095 (GRCm39)	S326L	possibly damaging	Het
Nsl1	C	A	1: 190,795,300 (GRCm39)	S22*	probably null	Het
Or5b3	A	C	19: 13,388,826 (GRCm39)	K298Q	possibly damaging	Het
Or5j3	T	C	2: 86,128,823 (GRCm39)	I221T	probably damaging	Het
Pdia3	T	A	2: 121,260,037 (GRCm39)	L192Q	probably damaging	Het
Pkd2	A	T	5: 104,651,471 (GRCm39)	R940*	probably null	Het
Plcd3	T	A	11: 102,967,568 (GRCm39)	Q458L	probably benign	Het
Polm	T	A	11: 5,786,343 (GRCm39)	T75S	probably benign	Het
Pon3	T	A	6: 5,232,330 (GRCm39)	D230V	possibly damaging	Het
Pxdn	A	T	12: 30,053,113 (GRCm39)	K917*	probably null	Het
Rad54l2	A	G	9: 106,577,784 (GRCm39)	S1046P	probably benign	Het
Rb1cc1	T	C	1: 6,318,035 (GRCm39)		probably null	Het
Rnf215	A	G	11: 4,086,785 (GRCm39)	E194G	probably damaging	Het
Rorb	A	T	19: 18,915,336 (GRCm39)	F441I	probably damaging	Het
Sel1l2	C	A	2: 140,090,508 (GRCm39)	G378V	probably damaging	Het
Sema6a	G	T	18: 47,431,281 (GRCm39)	A139D	probably damaging	Het
Serpinb3d	A	T	1: 107,006,266 (GRCm39)	M274K	probably benign	Het
Siglec15	A	C	18: 78,092,462 (GRCm39)	L32R	probably damaging	Het
Siglecg	A	T	7: 43,067,476 (GRCm39)	D681V	probably damaging	Het
Slc6a13	G	T	6: 121,303,066 (GRCm39)		probably benign	Het
Slc9b2	G	T	3: 135,024,179 (GRCm39)	A77S	probably benign	Het
Slit3	T	A	11: 35,598,890 (GRCm39)	V1498D	probably damaging	Het
Snorc	A	G	1: 87,402,926 (GRCm39)		probably null	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Stxbp2	T	C	8: 3,683,267 (GRCm39)		probably benign	Het
Tbc1d9b	T	C	11: 50,042,773 (GRCm39)	S482P	possibly damaging	Het
Tec	A	G	5: 72,926,090 (GRCm39)	S321P	possibly damaging	Het
Tenm3	A	G	8: 48,688,381 (GRCm39)	M2402T	probably damaging	Het
Thrap3	G	A	4: 126,059,335 (GRCm39)		probably null	Het
Tm4sf1	A	T	3: 57,200,537 (GRCm39)		probably null	Het
Tmcc1	T	C	6: 116,019,889 (GRCm39)	E306G	probably damaging	Het
Traf3ip3	A	T	1: 192,877,182 (GRCm39)		probably null	Het
Utf1	C	T	7: 139,523,875 (GRCm39)	P30L	possibly damaging	Het
Wdfy3	A	T	5: 102,077,847 (GRCm39)	C880S	probably 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
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

Predicted Primers

PCR Primer
(F):5'- GATCCTTCTCTGTGCCCAAG -3'
(R):5'- TGCACAAACAAGTTCCTCAGGC -3'

Sequencing Primer
(F):5'- GAAACGCCTCCTGTAGCAG -3'
(R):5'- ACAAGTTCCTCAGGCGTGACAG -3'

Posted On

2017-02-08