Mutagenetix > Incidental Mutation

Incidental Mutation 'R9144:Hexb'

694518

Institutional Source

Beutler Lab

Gene Symbol

Hexb

Ensembl Gene

ENSMUSG00000021665

Gene Name

hexosaminidase B

Synonyms

MMRRC Submission

068935-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9144 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97312839-97334865 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97317599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 366 (Y366C)

Ref Sequence

ENSEMBL: ENSMUSP00000022169 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022169] [ENSMUST00000022170] [ENSMUST00000042084] [ENSMUST00000161639] [ENSMUST00000161825]

AlphaFold

P20060

Predicted Effect

probably damaging
Transcript: ENSMUST00000022169
AA Change: Y366C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022169
Gene: ENSMUSG00000021665
AA Change: Y366C

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	C	T	9: 44,192,708 (GRCm39)	V176M	possibly damaging	Het
Acp5	T	C	9: 22,041,242 (GRCm39)	T62A	probably benign	Het
Alad	A	T	4: 62,430,257 (GRCm39)	D88E	probably damaging	Het
Arap1	T	C	7: 101,047,602 (GRCm39)	I803T	probably damaging	Het
Bckdhb	C	A	9: 83,894,662 (GRCm39)	T312K	probably damaging	Het
Cfap206	A	G	4: 34,722,667 (GRCm39)	V138A	possibly damaging	Het
Cntnap5b	A	G	1: 99,978,512 (GRCm39)	Y176C	probably damaging	Het
Creld1	A	T	6: 113,461,468 (GRCm39)	T63S	probably damaging	Het
Dsc1	G	A	18: 20,218,639 (GRCm39)	T878I	possibly damaging	Het
Ehbp1	C	T	11: 22,018,463 (GRCm39)	R873H	probably damaging	Het
Eml2	T	C	7: 18,935,564 (GRCm39)	V466A	possibly damaging	Het
Ercc5	T	A	1: 44,213,511 (GRCm39)	Y836N	probably damaging	Het
Fgf20	T	C	8: 40,732,958 (GRCm39)	D160G		Het
Fgfr4	A	T	13: 55,315,837 (GRCm39)		probably null	Het
Fpr1	A	T	17: 18,097,626 (GRCm39)	V121D	probably damaging	Het
Gabbr1	A	G	17: 37,362,049 (GRCm39)	K218E	probably benign	Het
Galnt12	T	C	4: 47,113,822 (GRCm39)	L372P		Het
Gldc	A	G	19: 30,114,593 (GRCm39)	F439S		Het
Gm6465	A	G	5: 11,896,726 (GRCm39)	T32A	possibly damaging	Het
Has2	T	C	15: 56,545,588 (GRCm39)	R5G	probably benign	Het
Ier2	C	T	8: 85,389,266 (GRCm39)	V39I	probably benign	Het
Ifi214	A	G	1: 173,355,434 (GRCm39)	S125P	possibly damaging	Het
Kcnk15	A	G	2: 163,700,451 (GRCm39)	D230G	probably benign	Het
Kdm3b	A	T	18: 34,927,558 (GRCm39)	Y140F	probably benign	Het
Klk1b11	T	C	7: 43,427,055 (GRCm39)	V140A	probably damaging	Het
Klra5	C	T	6: 129,886,911 (GRCm39)	C39Y	probably benign	Het
Ltbp2	T	C	12: 84,856,426 (GRCm39)	I699M	probably damaging	Het
Mak	C	A	13: 41,201,594 (GRCm39)	E256*	probably null	Het
Mark3	C	A	12: 111,606,376 (GRCm39)	N496K	probably benign	Het
Mex3c	A	G	18: 73,723,397 (GRCm39)	T497A	probably benign	Het
Myt1	A	G	2: 181,467,805 (GRCm39)	I1160V	possibly damaging	Het
Notch1	T	C	2: 26,349,587 (GRCm39)	T2518A	probably benign	Het
Nsg1	A	G	5: 38,302,088 (GRCm39)	Y108H	probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Obscn	A	G	11: 58,960,103 (GRCm39)	S3255P	possibly damaging	Het
Or5w18	A	G	2: 87,633,482 (GRCm39)	T246A	probably benign	Het
Plxna4	A	G	6: 32,162,496 (GRCm39)	V1339A	possibly damaging	Het
Ppp2r5e	C	T	12: 75,506,468 (GRCm39)	R433H	possibly damaging	Het
Pwwp2a	T	A	11: 43,596,721 (GRCm39)	C629S	probably benign	Het
Rasl10a	T	A	11: 5,008,473 (GRCm39)	S56R	probably benign	Het
Rhob	A	G	12: 8,549,124 (GRCm39)	V170A	probably damaging	Het
Rlf	A	T	4: 121,003,900 (GRCm39)	N1803K	probably benign	Het
Rmdn3	G	T	2: 118,969,847 (GRCm39)	Q405K	probably benign	Het
Rpap3	G	A	15: 97,589,184 (GRCm39)	T250M	possibly damaging	Het
Rraga	T	C	4: 86,494,796 (GRCm39)	I214T	probably damaging	Het
Rundc3a	A	T	11: 102,290,862 (GRCm39)	Q315L	probably benign	Het
Sh3bgr	T	A	16: 96,001,931 (GRCm39)	S10T	probably benign	Het
Skint6	A	T	4: 112,985,102 (GRCm39)	S421R	possibly damaging	Het
Spag16	G	C	1: 70,420,459 (GRCm39)	L482F	probably damaging	Het
Sppl2a	A	G	2: 126,769,743 (GRCm39)	S38P	probably benign	Het
Tex14	T	A	11: 87,413,423 (GRCm39)		probably null	Het
Tmem181a	G	A	17: 6,346,048 (GRCm39)	V181M	possibly damaging	Het
Traf3	T	A	12: 111,228,294 (GRCm39)	S502T	probably benign	Het
Trav9n-4	T	G	14: 53,532,236 (GRCm39)	V30G	probably damaging	Het
Trpm2	C	A	10: 77,765,122 (GRCm39)	V960L	probably benign	Het
Unc13b	T	A	4: 43,173,649 (GRCm39)	D1492E	unknown	Het
Usp44	A	G	10: 93,681,645 (GRCm39)	T32A	probably benign	Het
Vmn1r38	A	G	6: 66,753,612 (GRCm39)	M168T	probably benign	Het
Vmn1r9	A	G	6: 57,048,788 (GRCm39)	I288V	probably benign	Het
Zfhx3	A	G	8: 109,676,794 (GRCm39)	T2615A	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
R8830:Hexb	UTSW	13	97,330,762 (GRCm39)	missense	probably benign
R8980:Hexb	UTSW	13	97,330,689 (GRCm39)	missense	probably damaging	0.99
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'- GCCAGCTTCTAAATGCAAAATG -3'
(R):5'- CTCAGCTTTGTAAGGGCCTG -3'

Sequencing Primer
(F):5'- GCTTCTAAATGCAAAATGCTCAGC -3'
(R):5'- AGCAGATTCAGACTCCCTGTG -3'

Posted On

2022-01-20