Mutagenetix > Incidental Mutation

Incidental Mutation 'R9217:Aga'

699257

Institutional Source

Beutler Lab

Gene Symbol

Aga

Ensembl Gene

ENSMUSG00000031521

Gene Name

aspartylglucosaminidase

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9217 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53964762-53976456 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 53966627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 60 (G60S)

Ref Sequence

ENSEMBL: ENSMUSP00000033920 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033920] [ENSMUST00000209811] [ENSMUST00000211424]

AlphaFold

Q64191

Predicted Effect

probably damaging
Transcript: ENSMUST00000033920
AA Change: G60S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000033920
Gene: ENSMUSG00000031521
AA Change: G60S

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Asparaginase_2	32	333	2.5e-86	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209811

Predicted Effect

probably damaging
Transcript: ENSMUST00000211424
AA Change: G60S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

97% (59/61)

MGI Phenotype

FUNCTION: This gene encodes an amidase enzyme that participates in the breakdown of glycoproteins in the cell. The encoded protein undergoes proteolytic processing to generate a mature enzyme. Mice lacking the encoded protein exhibit accumulation of aspartylglucosamine along with lysosomal vacuolization, axonal swelling in the gracile nucleus and impaired neuromotor coordination. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate this gene die prematurely and share most of the clinical, biochemical and histopathological characteristics of human aspartylglycosaminuria. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	T	C	6: 92,808,967 (GRCm39)	V98A	unknown	Het
Abca15	A	T	7: 119,987,439 (GRCm39)	M1242L	probably benign	Het
Abcb9	G	A	5: 124,214,090 (GRCm39)	R576C	possibly damaging	Het
Abl2	A	G	1: 156,452,902 (GRCm39)	S146G	probably damaging	Het
Amigo1	T	A	3: 108,095,944 (GRCm39)	V481D	probably damaging	Het
Ano5	C	A	7: 51,243,415 (GRCm39)	P846Q	probably damaging	Het
Ccdc62	C	A	5: 124,092,470 (GRCm39)	T485K	probably benign	Het
Cd177	A	T	7: 24,445,550 (GRCm39)	I631K	possibly damaging	Het
Chil6	T	A	3: 106,313,411 (GRCm39)		probably benign	Het
Clip1	A	G	5: 123,717,441 (GRCm39)	S1283P	probably damaging	Het
Cpt1a	G	A	19: 3,425,111 (GRCm39)	V493I	probably benign	Het
Dcbld1	T	A	10: 52,138,028 (GRCm39)	D97E	probably benign	Het
Decr1	G	A	4: 15,930,969 (GRCm39)	P121L	probably damaging	Het
Ehmt1	A	T	2: 24,729,578 (GRCm39)	L661Q	probably benign	Het
Eif2d	A	G	1: 131,085,972 (GRCm39)	M156V	possibly damaging	Het
Ermn	A	T	2: 57,938,010 (GRCm39)	I201K	probably damaging	Het
Etfbkmt	T	C	6: 149,045,663 (GRCm39)	C6R	probably benign	Het
Evx2	A	T	2: 74,488,109 (GRCm39)		probably null	Het
Fam222a	T	C	5: 114,748,905 (GRCm39)	S34P	probably benign	Het
Fmo6	A	T	1: 162,748,046 (GRCm39)	D339E	probably benign	Het
Fubp1	T	C	3: 151,923,873 (GRCm39)	S142P	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gnb1	A	T	4: 155,625,033 (GRCm39)	Q75L	probably damaging	Het
Gucy2e	C	T	11: 69,126,778 (GRCm39)	A232T	possibly damaging	Het
Haspin	A	T	11: 73,026,936 (GRCm39)	C718S	probably benign	Het
Iqcd	C	T	5: 120,738,707 (GRCm39)	P175L	possibly damaging	Het
Jph1	T	A	1: 17,167,632 (GRCm39)	Q66L	probably benign	Het
Kank1	G	T	19: 25,386,944 (GRCm39)	D206Y	possibly damaging	Het
Klf14	T	C	6: 30,935,470 (GRCm39)	T55A	probably benign	Het
Lclat1	T	C	17: 73,494,879 (GRCm39)	M125T	probably damaging	Het
Lgr5	T	A	10: 115,423,349 (GRCm39)	Q17L	probably benign	Het
Lrmda	A	G	14: 22,648,361 (GRCm39)	I64V	unknown	Het
Lrrc15	A	G	16: 30,092,415 (GRCm39)	L308P	probably damaging	Het
Lyst	C	A	13: 13,871,245 (GRCm39)	Q2661K	probably benign	Het
Map3k21	T	A	8: 126,638,027 (GRCm39)	D204E	possibly damaging	Het
Msln	T	C	17: 25,970,125 (GRCm39)	I277V	probably benign	Het
Ndst4	C	T	3: 125,518,385 (GRCm39)	S354L	probably benign	Het
Nup153	G	A	13: 46,835,138 (GRCm39)	T1389M	probably damaging	Het
Or8c10	A	G	9: 38,279,268 (GRCm39)	Y132C	probably damaging	Het
Plcd1	T	C	9: 118,901,723 (GRCm39)		probably null	Het
Plce1	C	T	19: 38,748,551 (GRCm39)	R1761C	probably damaging	Het
Prrc2b	T	C	2: 32,103,414 (GRCm39)	L964P	probably damaging	Het
Prss43	T	C	9: 110,656,564 (GRCm39)	S84P	possibly damaging	Het
Rffl	T	C	11: 82,703,633 (GRCm39)	T97A	possibly damaging	Het
Riok2	G	C	17: 17,598,057 (GRCm39)	G48A	possibly damaging	Het
Sec24a	A	G	11: 51,617,331 (GRCm39)	M488T	probably benign	Het
Setdb2	C	T	14: 59,646,881 (GRCm39)	D545N	possibly damaging	Het
Slc39a4	T	A	15: 76,498,126 (GRCm39)	H400L	possibly damaging	Het
St7	T	A	6: 17,846,271 (GRCm39)	F175I	probably damaging	Het
Syne1	T	A	10: 5,299,324 (GRCm39)	D977V	probably damaging	Het
Tenm4	C	T	7: 96,534,646 (GRCm39)	T1801I	probably damaging	Het
Terf1	C	T	1: 15,883,295 (GRCm39)	T136I	probably damaging	Het
Tnnt1	T	C	7: 4,513,381 (GRCm39)	S42G	probably benign	Het
Trappc8	A	G	18: 21,000,822 (GRCm39)	V287A	probably benign	Het
Ttc3	T	A	16: 94,230,467 (GRCm39)	I870K	possibly damaging	Het
Ttn	A	T	2: 76,574,389 (GRCm39)	N25501K	possibly damaging	Het
Unc13c	A	T	9: 73,485,715 (GRCm39)	W1662R	probably damaging	Het
Wdr47	T	A	3: 108,525,890 (GRCm39)	C138S	probably damaging	Het
Zfp458	A	G	13: 67,408,298 (GRCm39)	S6P	probably damaging	Het
Zfp668	A	C	7: 127,465,804 (GRCm39)	L460*	probably null	Het

Other mutations in Aga

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Aga	APN	8	53,971,956 (GRCm39)	missense	probably benign
IGL02581:Aga	APN	8	53,974,079 (GRCm39)	splice site	probably benign
IGL02617:Aga	APN	8	53,973,348 (GRCm39)	missense	possibly damaging	0.66
IGL03008:Aga	APN	8	53,964,861 (GRCm39)	missense	probably benign
R2099:Aga	UTSW	8	53,974,166 (GRCm39)	nonsense	probably null
R3747:Aga	UTSW	8	53,970,856 (GRCm39)	missense	probably benign
R4018:Aga	UTSW	8	53,976,226 (GRCm39)	missense	probably benign	0.00
R4247:Aga	UTSW	8	53,964,865 (GRCm39)	missense	possibly damaging	0.72
R4399:Aga	UTSW	8	53,964,861 (GRCm39)	missense	probably benign
R4421:Aga	UTSW	8	53,964,861 (GRCm39)	missense	probably benign
R4475:Aga	UTSW	8	53,964,871 (GRCm39)	missense	probably damaging	0.98
R5235:Aga	UTSW	8	53,967,361 (GRCm39)	missense	probably damaging	1.00
R5640:Aga	UTSW	8	53,964,919 (GRCm39)	missense	probably damaging	1.00
R7748:Aga	UTSW	8	53,964,840 (GRCm39)	start codon destroyed	possibly damaging	0.79
R8553:Aga	UTSW	8	53,973,367 (GRCm39)	missense	probably damaging	1.00
R8955:Aga	UTSW	8	53,974,164 (GRCm39)	missense	possibly damaging	0.88
X0027:Aga	UTSW	8	53,974,191 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTTTCCACTAAGAGCCAACCTC -3'
(R):5'- CCTGCTCTGAATATGAGCCC -3'

Sequencing Primer
(F):5'- AGTAAGGAGTCATATACTTTGGTCTG -3'
(R):5'- GCTCTGAATATGAGCCCACCTG -3'

Posted On

2022-02-07