Mutagenetix > Incidental Mutation

Incidental Mutation 'R0098:Hexa'

64105

Institutional Source

Beutler Lab

Gene Symbol

Hexa

Ensembl Gene

ENSMUSG00000025232

Gene Name

hexosaminidase A

Synonyms

Hex-1

MMRRC Submission

038384-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.225) question?

Stock #

R0098 (G1)

Quality Score

161

Status

Validated

Chromosome

Chromosomal Location

59446966-59472392 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59465383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 213 (Y213H)

Ref Sequence

ENSEMBL: ENSMUSP00000026262 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026262]

AlphaFold

P29416

Predicted Effect

probably damaging
Transcript: ENSMUST00000026262
AA Change: Y213H

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

SMART Domains

Protein: ENSMUSP00000026262
Gene: ENSMUSG00000025232
AA Change: Y213H

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Glycohydro_20b2	23	145	3e-25	PFAM
Pfam:Glyco_hydro_20	167	487	1.6e-88	PFAM

Meta Mutation Damage Score

0.8917

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.2%

Validation Efficiency

100% (54/54)

MGI Phenotype

FUNCTION: This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mice lacking the encoded protein exhibit accumulation of gangliosides in the brain and membranous cytoplasmic bodies in neurons. Certain mutations in the human ortholog of this gene cause Tay-Sachs disease. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous mutants accumulate excess amounts of GM2 ganglioside that is stored in neurons as membranous cytoplasmic bodies typically seen in the neurons of Tay-Sachs disease patients. However, the mutant mice appear to be functionally normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,127,689 (GRCm39)	I97T	probably damaging	Het
Acp3	C	T	9: 104,197,144 (GRCm39)		probably null	Het
Adam32	T	A	8: 25,404,405 (GRCm39)	Y200F	possibly damaging	Het
Alpk2	A	G	18: 65,482,982 (GRCm39)	L342S	probably damaging	Het
Arfgef3	A	G	10: 18,465,390 (GRCm39)	V2151A	probably damaging	Het
Atm	T	C	9: 53,429,869 (GRCm39)	D389G	probably benign	Het
Atp10b	A	T	11: 43,080,431 (GRCm39)	S236C	probably benign	Het
B3gat1	C	T	9: 26,668,237 (GRCm39)	R276C	probably damaging	Het
Cndp1	T	A	18: 84,646,949 (GRCm39)	E246D	probably damaging	Het
Crebbp	A	G	16: 3,909,792 (GRCm39)	L1078P	probably damaging	Het
Cyp20a1	G	T	1: 60,426,413 (GRCm39)	E452*	probably null	Het
Emb	T	C	13: 117,404,034 (GRCm39)	V262A	probably damaging	Het
Ephb1	C	T	9: 101,918,339 (GRCm39)	R390H	probably damaging	Het
Faf1	T	C	4: 109,792,696 (GRCm39)	L556S	probably damaging	Het
Fam237b	T	A	5: 5,625,355 (GRCm39)	L17Q	possibly damaging	Het
Fbf1	A	T	11: 116,038,945 (GRCm39)		probably null	Het
Gid8	T	A	2: 180,356,528 (GRCm39)	I55N	possibly damaging	Het
Kalrn	A	T	16: 33,795,989 (GRCm39)	I1262K	possibly damaging	Het
Lrp1	C	T	10: 127,388,607 (GRCm39)	V3281I	probably benign	Het
Lrp2	T	C	2: 69,305,756 (GRCm39)	D2935G	probably damaging	Het
Lypd6	T	A	2: 50,080,792 (GRCm39)	V160E	probably benign	Het
Muc19	C	T	15: 91,777,101 (GRCm39)		noncoding transcript	Het
Mybpc1	T	C	10: 88,365,426 (GRCm39)	D899G	probably benign	Het
Myo18a	A	G	11: 77,736,591 (GRCm39)	E1564G	probably damaging	Het
Nrxn3	A	G	12: 89,226,971 (GRCm39)	D202G	probably damaging	Het
Palld	C	A	8: 61,978,120 (GRCm39)	G890V	probably damaging	Het
Pcx	C	A	19: 4,651,775 (GRCm39)		probably benign	Het
Plcg1	T	C	2: 160,573,920 (GRCm39)	W62R	probably damaging	Het
Ppa2	C	T	3: 133,076,234 (GRCm39)		probably benign	Het
Ppp1r18	A	G	17: 36,178,888 (GRCm39)	I254M	probably benign	Het
Prune2	A	G	19: 17,101,267 (GRCm39)	E2257G	possibly damaging	Het
Rd3	A	G	1: 191,717,261 (GRCm39)	M244V	probably benign	Het
Rfx5	T	A	3: 94,865,679 (GRCm39)	V326E	probably damaging	Het
Rgs3	G	C	4: 62,544,143 (GRCm39)	R305P	probably damaging	Het
Rpp40	A	G	13: 36,082,970 (GRCm39)	Y173H	probably benign	Het
Ryr3	T	C	2: 112,731,376 (GRCm39)	N645D	probably damaging	Het
Sema3e	T	C	5: 14,302,446 (GRCm39)	V657A	possibly damaging	Het
Serpina3n	T	A	12: 104,379,777 (GRCm39)	V390E	probably damaging	Het
Shank1	A	G	7: 43,962,709 (GRCm39)	Y141C	unknown	Het
Stat2	T	A	10: 128,119,131 (GRCm39)	H428Q	probably damaging	Het
Stat5a	A	T	11: 100,766,452 (GRCm39)	Q378L	probably damaging	Het
Tfrc	G	T	16: 32,442,244 (GRCm39)	V490F	probably damaging	Het
Tnnt1	T	C	7: 4,512,044 (GRCm39)	N155S	probably damaging	Het
Topaz1	T	C	9: 122,619,188 (GRCm39)	Y1262H	possibly damaging	Het
Ubxn8	T	C	8: 34,125,393 (GRCm39)		probably benign	Het
Unk	A	G	11: 115,940,995 (GRCm39)	Y252C	probably damaging	Het
Vmn2r66	A	C	7: 84,654,965 (GRCm39)	M448R	probably damaging	Het
Zfp386	T	A	12: 116,022,834 (GRCm39)	L184*	probably null	Het
Zfp985	T	C	4: 147,661,566 (GRCm39)	S4P	probably damaging	Het

Other mutations in Hexa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01877:Hexa	APN	9	59,471,163 (GRCm39)	splice site	probably benign
IGL02078:Hexa	APN	9	59,464,586 (GRCm39)	missense	probably benign	0.36
R0098:Hexa	UTSW	9	59,465,383 (GRCm39)	missense	probably damaging	1.00
R0281:Hexa	UTSW	9	59,461,509 (GRCm39)	critical splice donor site	probably null
R0364:Hexa	UTSW	9	59,471,218 (GRCm39)	missense	probably benign	0.00
R0481:Hexa	UTSW	9	59,462,693 (GRCm39)	splice site	probably benign
R1888:Hexa	UTSW	9	59,464,586 (GRCm39)	missense	probably benign	0.36
R1888:Hexa	UTSW	9	59,464,586 (GRCm39)	missense	probably benign	0.36
R2264:Hexa	UTSW	9	59,462,660 (GRCm39)	missense	probably damaging	0.99
R3545:Hexa	UTSW	9	59,464,581 (GRCm39)	missense	probably damaging	0.99
R4609:Hexa	UTSW	9	59,464,602 (GRCm39)	missense	probably benign	0.32
R5777:Hexa	UTSW	9	59,468,243 (GRCm39)	missense	probably damaging	0.99
R6041:Hexa	UTSW	9	59,470,519 (GRCm39)	missense	probably damaging	0.99
R6403:Hexa	UTSW	9	59,464,644 (GRCm39)	missense	probably damaging	1.00
R6776:Hexa	UTSW	9	59,465,355 (GRCm39)	missense	probably damaging	1.00
R6805:Hexa	UTSW	9	59,471,220 (GRCm39)	missense	possibly damaging	0.55
R6912:Hexa	UTSW	9	59,447,221 (GRCm39)	missense	probably damaging	1.00
R7285:Hexa	UTSW	9	59,471,222 (GRCm39)	missense	probably benign	0.02
R7467:Hexa	UTSW	9	59,464,683 (GRCm39)	critical splice donor site	probably null
R7556:Hexa	UTSW	9	59,470,582 (GRCm39)	missense	probably damaging	1.00
R7574:Hexa	UTSW	9	59,471,267 (GRCm39)	missense	probably benign	0.22
R7614:Hexa	UTSW	9	59,469,230 (GRCm39)	missense	probably damaging	1.00
R8550:Hexa	UTSW	9	59,468,182 (GRCm39)	missense	probably benign	0.01
R9418:Hexa	UTSW	9	59,464,592 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- GTGCATTCCTGGAACTTGAGGAAGG -3'
(R):5'- GGTTGTTCAGCAGACTGCCTCATC -3'

Sequencing Primer
(F):5'- AACTTGAGGAAGGTTGAGTTTTGC -3'
(R):5'- TATTAGCCACGGaaggttataaaac -3'

Posted On

2013-08-06