Mutagenetix > Incidental Mutation

Incidental Mutation 'R0893:Hexb'

83615

Institutional Source

Beutler Lab

Gene Symbol

Hexb

Ensembl Gene

ENSMUSG00000021665

Gene Name

hexosaminidase B

Synonyms

MMRRC Submission

039056-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97312839-97334865 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97322135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 217 (I217L)

Ref Sequence

ENSEMBL: ENSMUSP00000022169 (fasta)

Gene Model

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

AlphaFold

P20060

Predicted Effect

probably benign
Transcript: ENSMUST00000022169
AA Change: I217L

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000022169
Gene: ENSMUSG00000021665
AA Change: I217L

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: 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: ENSMUST00000222700

Meta Mutation Damage Score

0.0724

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 95.1%

Validation Efficiency

99% (77/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,266,082 (GRCm39)		probably benign	Het
Adnp	A	T	2: 168,025,647 (GRCm39)	F549L	possibly damaging	Het
Agl	A	G	3: 116,546,935 (GRCm39)	I1305T	probably benign	Het
Aldh8a1	T	A	10: 21,267,593 (GRCm39)	M326K	probably benign	Het
Amdhd1	A	T	10: 93,363,513 (GRCm39)	M295K	probably damaging	Het
Arhgef4	T	A	1: 34,846,191 (GRCm39)	C324S	probably damaging	Het
Car8	A	T	4: 8,238,119 (GRCm39)		probably null	Het
Cc2d1a	T	C	8: 84,867,468 (GRCm39)		probably benign	Het
Cd81	G	A	7: 142,616,242 (GRCm39)	V27M	possibly damaging	Het
Ces1b	A	T	8: 93,806,056 (GRCm39)	S62T	probably benign	Het
Cfb	A	G	17: 35,077,031 (GRCm39)	S30P	probably damaging	Het
Cmtm3	A	G	8: 105,070,543 (GRCm39)	M101V	possibly damaging	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Ddb1	C	T	19: 10,590,280 (GRCm39)	S269L	probably benign	Het
Ddx25	G	A	9: 35,465,686 (GRCm39)	Q143*	probably null	Het
Dis3l2	T	A	1: 86,971,928 (GRCm39)		probably null	Het
Dlgap4	G	T	2: 156,587,898 (GRCm39)	E598*	probably null	Het
Dus1l	C	T	11: 120,680,262 (GRCm39)	G471D	possibly damaging	Het
Elp4	C	A	2: 105,727,290 (GRCm39)		probably benign	Het
Eya3	A	G	4: 132,417,097 (GRCm39)	N194S	probably benign	Het
Golgb1	G	T	16: 36,732,639 (GRCm39)	V629L	possibly damaging	Het
Hars2	G	A	18: 36,920,648 (GRCm39)	A164T	possibly damaging	Het
Hgh1	A	G	15: 76,253,848 (GRCm39)		probably null	Het
Hsd3b3	A	T	3: 98,649,757 (GRCm39)		probably null	Het
Ighg2c	T	A	12: 113,251,053 (GRCm39)	N321Y	unknown	Het
Il5	A	G	11: 53,611,763 (GRCm39)	T34A	probably benign	Het
Jph1	C	A	1: 17,074,507 (GRCm39)	E504*	probably null	Het
Kif2b	G	T	11: 91,466,420 (GRCm39)	T621K	probably benign	Het
Kmt2c	A	T	5: 25,556,268 (GRCm39)		probably benign	Het
Leprotl1	A	G	8: 34,606,006 (GRCm39)		probably null	Het
Lpar3	C	T	3: 145,946,348 (GRCm39)	R9C	possibly damaging	Het
Map1a	A	G	2: 121,131,014 (GRCm39)	E372G	probably damaging	Het
Map2	C	A	1: 66,419,927 (GRCm39)	T86K	probably damaging	Het
Map7	A	G	10: 20,149,629 (GRCm39)		probably null	Het
Mdn1	T	C	4: 32,701,713 (GRCm39)	V1482A	probably benign	Het
Mks1	G	A	11: 87,747,777 (GRCm39)		probably benign	Het
Morf4l1	T	G	9: 89,984,403 (GRCm39)	K102N	probably damaging	Het
Mroh1	T	A	15: 76,293,138 (GRCm39)	V304D	possibly damaging	Het
Mtg1	G	A	7: 139,729,665 (GRCm39)	V252M	probably damaging	Het
Myh13	A	T	11: 67,225,427 (GRCm39)	D264V	probably damaging	Het
Myh2	A	G	11: 67,077,334 (GRCm39)	Y823C	possibly damaging	Het
Myoz1	A	T	14: 20,701,252 (GRCm39)	S112R	probably benign	Het
Ncapd2	A	G	6: 125,150,445 (GRCm39)	V860A	probably benign	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Npffr1	T	C	10: 61,450,010 (GRCm39)	F95L	possibly damaging	Het
Or51f1e	G	T	7: 102,747,641 (GRCm39)	R231L	probably benign	Het
Or8b9	T	C	9: 37,766,492 (GRCm39)	I126T	probably damaging	Het
Orc4	A	C	2: 48,822,622 (GRCm39)		probably benign	Het
P3h3	A	C	6: 124,822,476 (GRCm39)	I565R	probably damaging	Het
Pak4	T	C	7: 28,259,202 (GRCm39)	D552G	probably benign	Het
Pcdhb4	G	T	18: 37,442,423 (GRCm39)		probably null	Het
Pdcd4	G	T	19: 53,917,525 (GRCm39)	R454L	probably damaging	Het
Phf8-ps	T	C	17: 33,284,263 (GRCm39)	I846M	probably benign	Het
Pkd1l2	A	G	8: 117,771,231 (GRCm39)	I1116T	probably damaging	Het
Plcb2	A	G	2: 118,555,586 (GRCm39)		probably benign	Het
Pmpca	T	C	2: 26,283,230 (GRCm39)		probably benign	Het
Pnpla7	T	A	2: 24,887,252 (GRCm39)	I32N	probably damaging	Het
Prpf8	A	G	11: 75,384,775 (GRCm39)	K718E	probably damaging	Het
Racgap1	C	T	15: 99,524,411 (GRCm39)	A359T	probably benign	Het
Rgs3	G	A	4: 62,523,798 (GRCm39)		probably null	Het
Rhpn1	A	G	15: 75,583,503 (GRCm39)	E356G	probably damaging	Het
Rps6ka5	T	C	12: 100,540,697 (GRCm39)	H488R	possibly damaging	Het
Scn11a	A	G	9: 119,632,396 (GRCm39)		probably null	Het
Sema4f	A	T	6: 82,912,948 (GRCm39)		probably benign	Het
Serpina1f	A	G	12: 103,660,094 (GRCm39)	S63P	probably damaging	Het
Slc9a3	T	C	13: 74,307,365 (GRCm39)	W386R	probably damaging	Het
Slc9b1	A	C	3: 135,100,651 (GRCm39)	L465F	probably benign	Het
Smc5	A	G	19: 23,241,017 (GRCm39)	V165A	possibly damaging	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tinagl1	G	T	4: 130,067,816 (GRCm39)	D59E	probably damaging	Het
Tns3	A	G	11: 8,443,302 (GRCm39)	Y354H	probably damaging	Het
Trappc9	C	T	15: 72,461,956 (GRCm39)	G1103D	probably damaging	Het
Unc79	A	T	12: 102,957,687 (GRCm39)	D34V	probably damaging	Het
Unc80	T	C	1: 66,560,645 (GRCm39)	L791P	probably damaging	Het
Unc93a2	A	G	17: 7,641,926 (GRCm39)	L174P	probably damaging	Het
Xpo7	G	T	14: 70,903,537 (GRCm39)		probably benign	Het
Zbtb1	T	A	12: 76,432,113 (GRCm39)	I33N	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
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
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'- GTGTCTGCTGCTCCCAGAGATTATG -3'
(R):5'- GCTTGCTCTCCGATACAGCAATACC -3'

Sequencing Primer
(F):5'- TCTGGAAATAAAATGCTAAGCAGC -3'
(R):5'- CATGTTGAGTACATATGAAGAAGCAC -3'

Posted On

2013-11-08