Mutagenetix > Incidental Mutations

Incidental Mutation 'R0098:Hexa'

17930

Institutional Source

Beutler Lab

Gene Symbol

Hexa

Ensembl Gene

ENSMUSG00000025232

Gene Name

hexosaminidase A

Synonyms

Hex-1

MMRRC Submission

038384-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.340) question?

Stock #

R0098 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

59539540-59565109 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59558100 bp

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]

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: 90.4%
3x: 88.1%
10x: 82.9%
20x: 75.6%

Validation Efficiency

93% (78/84)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	A	T	17: 35,896,417		probably benign	Het
Acad9	T	C	3: 36,073,540	I97T	probably damaging	Het
Adam32	T	A	8: 24,914,389	Y200F	possibly damaging	Het
Adcy4	T	C	14: 55,769,827	N976S	possibly damaging	Het
Adgrb2	C	G	4: 130,007,831	P416R	probably damaging	Het
Alpk2	A	G	18: 65,349,911	L342S	probably damaging	Het
Ambra1	T	A	2: 91,767,711	H72Q	possibly damaging	Het
Ankrd10	T	C	8: 11,612,560	H391R	probably benign	Het
Arfgef3	A	G	10: 18,589,642	V2151A	probably damaging	Het
Atm	T	C	9: 53,518,569	D389G	probably benign	Het
Atp10b	A	T	11: 43,189,604	S236C	probably benign	Het
B3gat1	C	T	9: 26,756,941	R276C	probably damaging	Het
Bcl9l	C	T	9: 44,505,617	P251S	probably benign	Het
Cdhr5	C	A	7: 141,269,868	G331W	probably damaging	Het
Cmklr1	T	C	5: 113,614,470	T157A	probably benign	Het
Cndp1	T	A	18: 84,628,824	E246D	probably damaging	Het
Cntn4	A	G	6: 106,618,424		probably benign	Het
Crebbp	A	G	16: 4,091,928	L1078P	probably damaging	Het
Cyp20a1	G	T	1: 60,387,254	E452*	probably null	Het
Emb	T	C	13: 117,267,498	V262A	probably damaging	Het
Ephb1	C	T	9: 102,041,140	R390H	probably damaging	Het
Faf1	T	C	4: 109,935,499	L556S	probably damaging	Het
Fat2	T	C	11: 55,298,605	T1196A	probably damaging	Het
Fbf1	A	T	11: 116,148,119		probably null	Het
Gid8	T	A	2: 180,714,735	I55N	possibly damaging	Het
Igf2bp1	T	C	11: 95,973,163	K234E	probably damaging	Het
Ighv1-58	C	T	12: 115,312,299	G73E	probably benign	Het
Kalrn	A	T	16: 33,975,619	I1262K	possibly damaging	Het
Lrp1	C	T	10: 127,552,738	V3281I	probably benign	Het
Lrp2	T	C	2: 69,475,412	D2935G	probably damaging	Het
Lypd6	T	A	2: 50,190,780	V160E	probably benign	Het
Muc19	C	T	15: 91,892,907		noncoding transcript	Het
Nrxn3	A	G	12: 89,260,201	D202G	probably damaging	Het
Nxn	A	T	11: 76,278,594		probably benign	Het
Olfr1461	T	A	19: 13,165,662	I216K	probably benign	Het
Palld	C	A	8: 61,525,086	G890V	probably damaging	Het
Pcx	C	A	19: 4,601,747		probably benign	Het
Pik3c2g	T	C	6: 139,662,443	S416P	unknown	Het
Ppa2	C	T	3: 133,370,473		probably benign	Het
Ppp1r18	A	G	17: 35,867,996	I254M	probably benign	Het
Prune2	A	G	19: 17,123,903	E2257G	possibly damaging	Het
Rd3	A	G	1: 191,985,300	M244V	probably benign	Het
Rfx5	T	A	3: 94,958,368	V326E	probably damaging	Het
Rgs3	G	C	4: 62,625,906	R305P	probably damaging	Het
Rpp40	A	G	13: 35,898,987	Y173H	probably benign	Het
Ryr3	T	C	2: 112,901,031	N645D	probably damaging	Het
Sema3e	T	C	5: 14,252,432	V657A	possibly damaging	Het
Serpina3n	T	A	12: 104,413,518	V390E	probably damaging	Het
Shank1	A	G	7: 44,313,285	Y141C	unknown	Het
Smg1	A	T	7: 118,145,467	M3154K	probably benign	Het
Tdrd12	A	G	7: 35,475,993	L996P	probably damaging	Het
Tfrc	G	T	16: 32,623,426	V490F	probably damaging	Het
Tie1	T	C	4: 118,486,587	S53G	probably benign	Het
Topaz1	T	C	9: 122,790,123	Y1262H	possibly damaging	Het
Ttc3	A	T	16: 94,390,265	H222L	probably benign	Het
Ubxn8	T	C	8: 33,635,365		probably benign	Het
Unk	A	G	11: 116,050,169	Y252C	probably damaging	Het
Vwc2l	A	G	1: 70,729,131	Y71C	probably damaging	Het
Zfp386	T	A	12: 116,059,214	L184*	probably null	Het

Other mutations in Hexa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01877:Hexa	APN	9	59563880	splice site	probably benign
IGL02078:Hexa	APN	9	59557303	missense	probably benign	0.36
R0098:Hexa	UTSW	9	59558100	missense	probably damaging	1.00
R0281:Hexa	UTSW	9	59554226	critical splice donor site	probably null
R0364:Hexa	UTSW	9	59563935	missense	probably benign	0.00
R0481:Hexa	UTSW	9	59555410	splice site	probably benign
R1888:Hexa	UTSW	9	59557303	missense	probably benign	0.36
R1888:Hexa	UTSW	9	59557303	missense	probably benign	0.36
R2264:Hexa	UTSW	9	59555377	missense	probably damaging	0.99
R3545:Hexa	UTSW	9	59557298	missense	probably damaging	0.99
R4609:Hexa	UTSW	9	59557319	missense	probably benign	0.32
R5777:Hexa	UTSW	9	59560960	missense	probably damaging	0.99
R6041:Hexa	UTSW	9	59563236	missense	probably damaging	0.99
R6403:Hexa	UTSW	9	59557361	missense	probably damaging	1.00
R6776:Hexa	UTSW	9	59558072	missense	probably damaging	1.00
R6805:Hexa	UTSW	9	59563937	missense	possibly damaging	0.55
R6912:Hexa	UTSW	9	59539938	missense	probably damaging	1.00
R7285:Hexa	UTSW	9	59563939	missense	probably benign	0.02
R7467:Hexa	UTSW	9	59557400	critical splice donor site	probably null
R7556:Hexa	UTSW	9	59563299	missense	probably damaging	1.00
R7574:Hexa	UTSW	9	59563984	missense	probably benign	0.22
R7614:Hexa	UTSW	9	59561947	missense	probably damaging	1.00

Posted On

2013-03-25