Mutagenetix > Incidental Mutation

Incidental Mutation 'R7574:Hexa'

586242

Institutional Source

Beutler Lab

Gene Symbol

Hexa

Ensembl Gene

ENSMUSG00000025232

Gene Name

hexosaminidase A

Synonyms

Hex-1

MMRRC Submission

045660-MU

Accession Numbers

Essential gene?

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

Stock #

R7574 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59446966-59472392 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59471267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 507 (V507A)

Ref Sequence

ENSEMBL: ENSMUSP00000026262 (fasta)

Gene Model

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

AlphaFold

P29416

Predicted Effect

probably benign
Transcript: ENSMUST00000026262
AA Change: V507A

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000026262
Gene: ENSMUSG00000025232
AA Change: V507A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,606,478 (GRCm39)	V240A	probably damaging	Het
A930009A15Rik	C	T	10: 115,406,019 (GRCm39)		probably benign	Het
Aarsd1	A	G	11: 101,301,970 (GRCm39)	I201T	probably damaging	Het
Acaca	T	A	11: 84,152,414 (GRCm39)	Y854N	probably benign	Het
Adra2c	T	C	5: 35,437,759 (GRCm39)	L177P	probably damaging	Het
Akr1c12	A	T	13: 4,329,309 (GRCm39)	I16N	probably damaging	Het
Aldh8a1	A	T	10: 21,256,729 (GRCm39)	I47F	possibly damaging	Het
Birc6	A	G	17: 74,886,879 (GRCm39)	I736V	probably benign	Het
Bmp2	A	T	2: 133,402,817 (GRCm39)	M123L	probably benign	Het
C1ql1	T	C	11: 102,836,812 (GRCm39)	Y159C	probably damaging	Het
Ccdc148	T	C	2: 58,713,645 (GRCm39)	Y502C	probably damaging	Het
Ccdc168	A	T	1: 44,098,593 (GRCm39)	V835E	possibly damaging	Het
Cenpf	A	T	1: 189,390,864 (GRCm39)	N989K	probably damaging	Het
Ciz1	A	G	2: 32,257,380 (GRCm39)	M142V	probably benign	Het
Cnot4	T	C	6: 35,029,939 (GRCm39)	R320G	possibly damaging	Het
Cyth1	G	T	11: 118,073,689 (GRCm39)	H215N	probably damaging	Het
Dapk1	G	A	13: 60,908,987 (GRCm39)	G1200D	probably damaging	Het
Dhps	A	G	8: 85,799,181 (GRCm39)	Y103C	probably damaging	Het
Dnah1	T	A	14: 31,041,865 (GRCm39)	E35D	probably benign	Het
Dnajb9	A	T	12: 44,254,169 (GRCm39)	D79E	probably damaging	Het
Eif4a2	T	C	16: 22,928,877 (GRCm39)	F164S	probably benign	Het
Enpp2	T	C	15: 54,714,813 (GRCm39)	T595A	probably benign	Het
Exoc6b	T	A	6: 84,768,366 (GRCm39)		probably null	Het
Fam171a1	T	C	2: 3,221,391 (GRCm39)	S286P	probably damaging	Het
Fermt2	T	A	14: 45,706,782 (GRCm39)	N338I	probably damaging	Het
Fhdc1	A	G	3: 84,353,438 (GRCm39)	F596L	probably benign	Het
Fry	T	C	5: 150,304,359 (GRCm39)	V583A	probably benign	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gdap1	T	A	1: 17,231,665 (GRCm39)	F337I	possibly damaging	Het
Git2	C	T	5: 114,904,550 (GRCm39)	R123H	probably damaging	Het
Gpr6	A	T	10: 40,946,652 (GRCm39)	I310N	possibly damaging	Het
Gpsm2	G	A	3: 108,608,061 (GRCm39)	A239V	probably damaging	Het
Hmcn2	A	T	2: 31,345,531 (GRCm39)	H4718L	possibly damaging	Het
Hrh4	T	C	18: 13,154,970 (GRCm39)	F170L	possibly damaging	Het
Ica1	T	C	6: 8,658,266 (GRCm39)	T284A	probably benign	Het
Itga5	T	C	15: 103,258,876 (GRCm39)	N774S	probably damaging	Het
Itgb2	T	C	10: 77,395,992 (GRCm39)	S556P	probably benign	Het
Kash5	A	T	7: 44,854,035 (GRCm39)	H31Q	possibly damaging	Het
Kcnq4	A	G	4: 120,568,565 (GRCm39)	F384L	probably benign	Het
Lama2	A	T	10: 26,882,726 (GRCm39)	N2612K	probably benign	Het
Lnx1	T	C	5: 74,846,099 (GRCm39)	E117G	probably benign	Het
Lrrc14b	G	T	13: 74,508,892 (GRCm39)	A505E	probably damaging	Het
Ly6g	T	C	15: 75,030,413 (GRCm39)	I77T	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mrgpre	C	T	7: 143,335,087 (GRCm39)	V139M	probably damaging	Het
Muc4	T	A	16: 32,753,411 (GRCm38)	S1096T	probably benign	Het
Myrfl	G	A	10: 116,667,430 (GRCm39)	R337*	probably null	Het
Ndufa4	C	T	6: 11,906,092 (GRCm39)	V20I	probably benign	Het
Nf1	A	G	11: 79,299,595 (GRCm39)	D241G	probably null	Het
Nid1	A	G	13: 13,643,028 (GRCm39)	D322G	probably benign	Het
Nova1	A	T	12: 46,747,544 (GRCm39)	D244E	unknown	Het
Or11g27	T	A	14: 50,771,770 (GRCm39)	D300E	probably benign	Het
Or4a68	T	C	2: 89,269,745 (GRCm39)	K293E	possibly damaging	Het
Or5m10b	A	G	2: 85,699,350 (GRCm39)	K138R	probably benign	Het
Padi2	C	A	4: 140,676,648 (GRCm39)	N595K	possibly damaging	Het
Pag1	A	G	3: 9,758,951 (GRCm39)	I389T	probably damaging	Het
Pcdh10	G	T	3: 45,335,810 (GRCm39)	G708V	possibly damaging	Het
Pecam1	A	G	11: 106,590,610 (GRCm39)	S55P	probably damaging	Het
Plin3	A	T	17: 56,591,192 (GRCm39)	V196E	possibly damaging	Het
Plxdc1	A	T	11: 97,847,316 (GRCm39)	L119Q	possibly damaging	Het
Pnliprp1	A	T	19: 58,726,681 (GRCm39)	N346I	probably damaging	Het
Ppp1r27	A	T	11: 120,441,856 (GRCm39)	Y8*	probably null	Het
Prg3	A	T	2: 84,819,746 (GRCm39)	D80V	probably damaging	Het
Prmt5	T	C	14: 54,745,347 (GRCm39)	N607D	possibly damaging	Het
Ptprs	A	G	17: 56,730,538 (GRCm39)	F1144L	probably benign	Het
Rai14	C	T	15: 10,593,189 (GRCm39)	G152R	probably damaging	Het
Rap1gds1	T	A	3: 138,661,976 (GRCm39)	R427*	probably null	Het
Recql5	A	G	11: 115,819,248 (GRCm39)	V106A	probably benign	Het
Resp18	T	C	1: 75,250,615 (GRCm39)	T155A	probably benign	Het
Rfx6	A	G	10: 51,557,914 (GRCm39)	D129G	probably benign	Het
Rsf1	T	A	7: 97,310,374 (GRCm39)	I368K		Het
Sema6a	C	G	18: 47,424,231 (GRCm39)	V226L	probably damaging	Het
Sf1	A	G	19: 6,422,234 (GRCm39)	E220G	probably damaging	Het
Shld2	C	T	14: 33,959,423 (GRCm39)	S853N	probably damaging	Het
Sidt1	T	A	16: 44,079,848 (GRCm39)	Y602F	probably damaging	Het
Slc17a8	A	G	10: 89,428,008 (GRCm39)	I273T	probably benign	Het
Slc28a2b	A	T	2: 122,353,325 (GRCm39)	I502F	not run	Het
Slc41a1	A	T	1: 131,766,889 (GRCm39)	I136F	probably damaging	Het
Snrpb	T	C	2: 130,018,939 (GRCm39)	I51V	probably benign	Het
Sprr2f	T	A	3: 92,273,254 (GRCm39)	C18S	unknown	Het
Stab1	T	C	14: 30,876,622 (GRCm39)	N864S	probably benign	Het
Svil	C	A	18: 5,095,188 (GRCm39)	T1457K	probably benign	Het
Syt1	A	T	10: 108,340,262 (GRCm39)	I352N	probably damaging	Het
Tas2r119	A	G	15: 32,178,279 (GRCm39)	K282E	probably damaging	Het
Timeless	T	C	10: 128,080,538 (GRCm39)	F473S	probably damaging	Het
Tmc3	A	G	7: 83,247,481 (GRCm39)	D192G	probably damaging	Het
Trmt1l	T	A	1: 151,316,591 (GRCm39)	I184N	possibly damaging	Het
Ttll6	G	A	11: 96,025,701 (GRCm39)	V61M	probably damaging	Het
Ttn	C	T	2: 76,632,755 (GRCm39)	E14100K	probably damaging	Het
Txndc2	T	A	17: 65,945,620 (GRCm39)	I186F	possibly damaging	Het
Ubr1	A	T	2: 120,703,672 (GRCm39)	S1553T	possibly damaging	Het
Vmn1r208	T	C	13: 22,956,705 (GRCm39)	N264S	probably benign	Het
Vmn1r87	T	A	7: 12,865,613 (GRCm39)	M225L	probably benign	Het
Vmn2r101	T	A	17: 19,831,899 (GRCm39)	C632S	possibly damaging	Het
Wdr97	T	A	15: 76,241,949 (GRCm39)	Y747*	probably null	Het
Zfp474	T	C	18: 52,772,261 (GRCm39)	S305P	probably benign	Het
Zfp59	A	G	7: 27,552,863 (GRCm39)	N105S	probably benign	Het
Zfp804b	T	A	5: 6,822,301 (GRCm39)	Y254F	possibly 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
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
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'- GCATCATTTACGGCTGAGCTAG -3'
(R):5'- TGAGTCAGTCAAAGCTTACAGG -3'

Sequencing Primer
(F):5'- CATCATTTACGGCTGAGCTAGTTTGG -3'
(R):5'- AGCTTACAGGTTCAAATCCTGC -3'

Posted On

2019-10-24