Mutagenetix > Incidental Mutation

Incidental Mutation 'R7556:Hexa'

584781

Institutional Source

Beutler Lab

Gene Symbol

Hexa

Ensembl Gene

ENSMUSG00000025232

Gene Name

hexosaminidase A

Synonyms

Hex-1

MMRRC Submission

045624-MU

Accession Numbers

Essential gene?

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

Stock #

R7556 (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 A at 59470582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 468 (L468Q)

Ref Sequence

ENSEMBL: ENSMUSP00000026262 (fasta)

Gene Model

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

AlphaFold

P29416

Predicted Effect

probably damaging
Transcript: ENSMUST00000026262
AA Change: L468Q

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

SMART Domains

Protein: ENSMUSP00000026262
Gene: ENSMUSG00000025232
AA Change: L468Q

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: 99.6%
20x: 98.9%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	T	9: 46,221,611 (GRCm39)	W11*	probably null	Het
A2ml1	A	G	6: 128,546,927 (GRCm39)	S401P	probably damaging	Het
Adamtsl1	T	A	4: 86,195,358 (GRCm39)	Y592N	probably benign	Het
Adh6b	C	T	3: 138,058,546 (GRCm39)	T76I	probably damaging	Het
Aebp2	C	A	6: 140,623,137 (GRCm39)	P503Q	probably benign	Het
Ankrd2	A	G	19: 42,028,839 (GRCm39)	D134G		Het
Atf7ip	T	C	6: 136,538,239 (GRCm39)	S491P	probably damaging	Het
Atp1a3	T	C	7: 24,680,991 (GRCm39)	D832G	probably benign	Het
Atrnl1	G	A	19: 57,643,278 (GRCm39)	V389I	probably benign	Het
Bahcc1	T	C	11: 120,178,589 (GRCm39)	S2383P	probably damaging	Het
Brd9	A	G	13: 74,092,886 (GRCm39)	D292G	possibly damaging	Het
Cacna1e	G	T	1: 154,348,419 (GRCm39)	Q781K	probably benign	Het
Ccdc9	T	C	7: 16,018,491 (GRCm39)		probably benign	Het
Cdc42ep4	C	G	11: 113,619,366 (GRCm39)	E342Q	probably damaging	Het
Celf3	C	T	3: 94,387,590 (GRCm39)	T54M	probably damaging	Het
Cenpn	T	C	8: 117,664,008 (GRCm39)	Y267H	probably damaging	Het
Chrnb4	T	C	9: 54,942,339 (GRCm39)	T312A	probably benign	Het
Clcn3	T	A	8: 61,382,521 (GRCm39)	T383S	probably damaging	Het
Cln3	T	C	7: 126,174,242 (GRCm39)	Q327R	probably damaging	Het
Cnep1r1	T	C	8: 88,851,761 (GRCm39)	L50P	probably damaging	Het
Cnot6	T	C	11: 49,566,144 (GRCm39)	N512S	probably benign	Het
Col7a1	T	A	9: 108,811,533 (GRCm39)		probably null	Het
Cryba4	C	T	5: 112,398,969 (GRCm39)	R25Q	probably damaging	Het
Dnah5	A	G	15: 28,290,389 (GRCm39)	I1260V	probably null	Het
Dock2	G	T	11: 34,611,778 (GRCm39)	T195K	probably benign	Het
Dpp9	A	T	17: 56,497,012 (GRCm39)	I740N	possibly damaging	Het
Fbxl21	A	T	13: 56,674,741 (GRCm39)	N31Y	probably benign	Het
Frat1	G	A	19: 41,818,959 (GRCm39)	R118Q	possibly damaging	Het
Gna11	A	G	10: 81,367,208 (GRCm39)	F228S		Het
Golgb1	A	T	16: 36,736,155 (GRCm39)	M1842L	probably benign	Het
Got1	A	T	19: 43,491,469 (GRCm39)	M327K	probably damaging	Het
H4c9	A	G	13: 22,225,414 (GRCm39)	I27T	probably damaging	Het
Ift57	G	A	16: 49,526,491 (GRCm39)	V178I	probably benign	Het
Kbtbd13	T	C	9: 65,298,757 (GRCm39)	T60A	probably benign	Het
Klk1b5	A	G	7: 43,496,649 (GRCm39)	T194A	probably damaging	Het
Krtap16-3	C	A	16: 88,759,666 (GRCm39)	G16C	unknown	Het
Lamb3	T	C	1: 193,014,757 (GRCm39)	S639P	probably benign	Het
Mapt	C	A	11: 104,189,528 (GRCm39)	P182Q	probably benign	Het
Mcf2l	A	G	8: 13,023,071 (GRCm39)	T86A	probably damaging	Het
Mecom	G	T	3: 30,041,220 (GRCm39)	H125N	probably benign	Het
Med18	T	C	4: 132,187,247 (GRCm39)	H84R	probably benign	Het
Muc2	A	G	7: 141,307,439 (GRCm39)	Y798C		Het
Mycbp	T	C	4: 123,799,060 (GRCm39)	Y17H	probably damaging	Het
Nacad	C	T	11: 6,551,272 (GRCm39)	V640M	possibly damaging	Het
Ncoa1	C	T	12: 4,320,794 (GRCm39)	V1092I	probably damaging	Het
Nomo1	A	G	7: 45,715,642 (GRCm39)	E696G	probably damaging	Het
Notch4	G	A	17: 34,794,444 (GRCm39)	C741Y	probably damaging	Het
Or10g7	A	G	9: 39,905,978 (GRCm39)	N291D	probably damaging	Het
Or6d12	C	T	6: 116,493,697 (GRCm39)	Q320*	probably null	Het
Osbpl10	C	A	9: 115,036,692 (GRCm39)	H229Q	probably damaging	Het
Pif1	A	T	9: 65,496,993 (GRCm39)		probably null	Het
Plk2	T	G	13: 110,533,122 (GRCm39)		probably null	Het
Ppp1r42	T	C	1: 10,065,408 (GRCm39)	H172R	probably benign	Het
Ring1	A	G	17: 34,240,688 (GRCm39)	I363T	possibly damaging	Het
Rnf168	T	G	16: 32,117,863 (GRCm39)	Y475D	probably damaging	Het
Sbf2	T	A	7: 109,913,260 (GRCm39)	K1671N	probably benign	Het
Sema6d	A	G	2: 124,496,109 (GRCm39)	N51S	probably damaging	Het
Setx	C	A	2: 29,036,505 (GRCm39)	Q997K	possibly damaging	Het
Skint5	T	G	4: 113,425,162 (GRCm39)	Q1088P	unknown	Het
Slc22a27	T	C	19: 7,843,119 (GRCm39)	D528G	probably damaging	Het
Slc6a7	T	A	18: 61,140,514 (GRCm39)	K173*	probably null	Het
Smc2	T	C	4: 52,457,379 (GRCm39)	F380L	probably benign	Het
Spata31d1a	T	C	13: 59,849,798 (GRCm39)	M777V	probably benign	Het
Stkld1	A	T	2: 26,837,307 (GRCm39)	N319I	possibly damaging	Het
Tanc2	T	C	11: 105,799,857 (GRCm39)	V93A		Het
Tbx20	T	C	9: 24,661,573 (GRCm39)		probably null	Het
Trbv20	G	A	6: 41,165,715 (GRCm39)	V47I	probably benign	Het
Trip4	A	T	9: 65,782,155 (GRCm39)	C192*	probably null	Het
Tsbp1	A	T	17: 34,656,691 (GRCm39)	I103F	unknown	Het
Tulp2	A	G	7: 45,168,005 (GRCm39)		probably null	Het
Ush2a	C	A	1: 188,689,690 (GRCm39)	P5084Q	probably benign	Het
Virma	T	C	4: 11,518,927 (GRCm39)	Y675H	probably damaging	Het
Vmn2r102	T	A	17: 19,898,093 (GRCm39)	N369K	probably benign	Het
Vmn2r59	A	T	7: 41,695,233 (GRCm39)	M393K	probably damaging	Het
Vmn2r69	GAAAA	GAAAAA	7: 85,060,768 (GRCm39)		probably null	Het
Xpot	A	G	10: 121,449,411 (GRCm39)	S30P	probably benign	Het
Zfp947	T	C	17: 22,364,597 (GRCm39)	Y359C	probably benign	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
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'- AGGAAATGAGATGGCCTTTCTG -3'
(R):5'- ATGGCCATTCTCCTGCACAC -3'

Sequencing Primer
(F):5'- TTTCTGAGGAGAAGGCCGCAC -3'
(R):5'- TGCTTTATTGGACGCACACACAG -3'

Posted On

2019-10-17