Mutagenetix > Incidental Mutation

Incidental Mutation 'R1584:Naga'

177383

Institutional Source

Beutler Lab

Gene Symbol

Naga

Ensembl Gene

ENSMUSG00000022453

Gene Name

N-acetyl galactosaminidase, alpha

Synonyms

MMRRC Submission

039621-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1584 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82329532-82338925 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82334788 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 237 (M237L)

Ref Sequence

ENSEMBL: ENSMUSP00000154927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023088] [ENSMUST00000160994] [ENSMUST00000229294] [ENSMUST00000229388] [ENSMUST00000229733] [ENSMUST00000229948] [ENSMUST00000230269] [ENSMUST00000230380]

AlphaFold

Q9QWR8

Predicted Effect

probably null
Transcript: ENSMUST00000023088
AA Change: M253L

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023088
Gene: ENSMUSG00000022453
AA Change: M253L

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Melibiase_2	25	394	2.1e-171	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159942

Predicted Effect

probably benign
Transcript: ENSMUST00000160994

Predicted Effect

probably null
Transcript: ENSMUST00000229294
AA Change: M237L

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000229388

Predicted Effect

probably benign
Transcript: ENSMUST00000229733

Predicted Effect

probably benign
Transcript: ENSMUST00000229948

Predicted Effect

probably benign
Transcript: ENSMUST00000230139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230268

Predicted Effect

probably benign
Transcript: ENSMUST00000230269

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230380
AA Change: M253L

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230664

Meta Mutation Damage Score

0.8484

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.2%

Validation Efficiency

99% (106/107)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd15	C	T	11: 77,515,410	A71V	probably damaging	Het
Ager	A	G	17: 34,600,718	E357G	probably damaging	Het
Akap13	T	C	7: 75,729,049	S2095P	possibly damaging	Het
Ampd2	T	C	3: 108,080,337		probably null	Het
Arrdc1	T	C	2: 24,925,795	I398V	probably benign	Het
Ash1l	T	C	3: 89,052,065	Y2250H	probably damaging	Het
BC005561	T	A	5: 104,518,257	I215N	probably damaging	Het
Brca2	G	A	5: 150,552,258	A2478T	probably damaging	Het
Btrc	T	A	19: 45,513,382		probably benign	Het
C8g	C	T	2: 25,500,216	A6T	probably benign	Het
Cdc123	T	A	2: 5,803,977		probably null	Het
Cilp	G	A	9: 65,279,715	G1031S	probably damaging	Het
Cldn5	G	A	16: 18,777,477	G161D	probably damaging	Het
Cndp2	G	A	18: 84,677,315		probably benign	Het
Cntnap1	C	A	11: 101,180,360	F366L	probably damaging	Het
Corin	C	T	5: 72,302,790		probably null	Het
Ctdspl2	G	A	2: 122,003,929	R332K	probably benign	Het
Dido1	G	A	2: 180,662,328	P1261L	probably damaging	Het
Dopey1	A	T	9: 86,548,172	R2200*	probably null	Het
Dtx3l	G	A	16: 35,932,728	L503F	probably damaging	Het
Dysf	A	G	6: 84,067,047	K259R	probably benign	Het
Enpep	T	A	3: 129,319,448	T203S	probably damaging	Het
Epha2	T	A	4: 141,322,047		probably null	Het
Fam20b	T	C	1: 156,686,188		probably benign	Het
Fbln7	A	G	2: 128,877,429	T49A	probably benign	Het
Fgf14	T	A	14: 124,676,539	K60M	probably benign	Het
Fhad1	T	C	4: 141,985,511	I206V	probably benign	Het
Figla	A	G	6: 86,020,782	E164G	probably benign	Het
Gimap4	C	A	6: 48,691,282	Q196K	probably benign	Het
Glcci1	C	T	6: 8,537,964	T6I	probably damaging	Het
Gm6583	C	T	5: 112,354,764	G358D	probably benign	Het
Grk4	T	C	5: 34,694,750	S113P	probably benign	Het
Hectd3	G	A	4: 116,996,566	E220K	probably damaging	Het
Hecw1	A	G	13: 14,340,743		probably null	Het
Helz2	G	A	2: 181,236,297	P903S	probably damaging	Het
Hydin	T	C	8: 110,580,815	V3942A	probably benign	Het
Irs1	G	T	1: 82,289,444	H350Q	probably benign	Het
Kdm1b	G	A	13: 47,064,054	E46K	probably damaging	Het
Klf11	A	G	12: 24,655,305	N253D	probably damaging	Het
Klhl23	T	C	2: 69,833,888	I527T	probably damaging	Het
Lars	G	A	18: 42,210,050	R1101C	probably damaging	Het
Lcn4	G	A	2: 26,668,576	P166L	probably damaging	Het
Letmd1	T	A	15: 100,472,542		probably null	Het
Lilra6	T	A	7: 3,912,662	D358V	probably damaging	Het
Mmrn2	A	G	14: 34,375,685	D24G	probably benign	Het
Mpp5	A	G	12: 78,829,727	I482V	probably benign	Het
Mroh2b	G	T	15: 4,925,684	D720Y	probably damaging	Het
Mrps35	C	T	6: 147,055,984	T169M	probably damaging	Het
Muc4	G	A	16: 32,753,595	G1157D	probably benign	Het
Nfu1	G	A	6: 87,020,809	E225K	probably damaging	Het
Nin	A	T	12: 70,042,669	L1324Q	probably benign	Het
Oc90	T	A	15: 65,897,720	Y96F	probably damaging	Het
Olfr1029	T	A	2: 85,975,995	F251I	probably damaging	Het
Olfr1253	C	T	2: 89,752,267	C187Y	probably damaging	Het
Olfr1471	T	C	19: 13,445,659	Y216H	probably damaging	Het
Olfr25	G	A	9: 38,330,131	M181I	possibly damaging	Het
Olfr522	A	G	7: 140,162,203	V249A	probably damaging	Het
Orc4	A	T	2: 48,909,494	C324S	possibly damaging	Het
Pdzrn4	T	C	15: 92,770,537	S857P	probably benign	Het
Plec	C	T	15: 76,185,908	E1000K	possibly damaging	Het
Plvap	A	T	8: 71,508,481	V149D	probably benign	Het
Pm20d2	A	T	4: 33,174,772	N371K	probably damaging	Het
Ppp2r5d	A	G	17: 46,684,684	Y480H	probably benign	Het
Prkd1	A	T	12: 50,425,515	V205E	probably damaging	Het
R3hdm2	A	G	10: 127,476,690	I434V	probably benign	Het
Rel	T	A	11: 23,745,546	T246S	probably damaging	Het
Rnf215	T	A	11: 4,136,719	V172E	probably damaging	Het
Scara3	T	C	14: 65,921,104	D485G	probably damaging	Het
Sec16a	A	T	2: 26,431,157	Y1308N	probably damaging	Het
Sis	A	T	3: 72,932,060	D824E	possibly damaging	Het
Slc27a4	T	A	2: 29,811,190	V331E	probably damaging	Het
Srebf1	C	T	11: 60,200,702	R999H	probably benign	Het
St3gal3	A	C	4: 118,107,662	M1R	probably null	Het
Tapbp	C	T	17: 33,919,940		probably null	Het
Tep1	A	T	14: 50,866,037	N265K	probably damaging	Het
Tln2	T	A	9: 67,296,414	N470I	probably damaging	Het
Trim43a	G	T	9: 88,588,158	W339L	probably damaging	Het
Ttc22	T	C	4: 106,622,780	F77S	probably damaging	Het
Ttc8	A	G	12: 98,920,764	E32G	probably benign	Het
Uhmk1	A	T	1: 170,208,653		probably null	Het
Usp17lc	A	G	7: 103,418,941	H481R	possibly damaging	Het
Vamp8	G	A	6: 72,385,634	T35M	probably damaging	Het
Vill	A	G	9: 119,065,586	Y53C	probably damaging	Het
Vmn1r222	A	T	13: 23,232,762	S94T	probably damaging	Het
Vmn2r93	A	G	17: 18,305,151	Y357C	possibly damaging	Het
Vps13c	T	A	9: 67,893,112	V536D	possibly damaging	Het
Vrtn	G	A	12: 84,650,081	C535Y	probably damaging	Het
Vwa3a	A	G	7: 120,768,165	Y181C	probably damaging	Het
Wfikkn2	G	A	11: 94,238,895	T140I	probably damaging	Het
Ykt6	T	A	11: 5,962,349	F101I	probably damaging	Het
Zfp277	C	T	12: 40,378,826	G174D	probably benign	Het
Zfp638	A	G	6: 83,978,065		probably null	Het
Zzef1	C	T	11: 72,924,679	P2942S	probably damaging	Het

Other mutations in Naga

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01148:Naga	APN	15	82330660	missense	possibly damaging	0.50
IGL01515:Naga	APN	15	82330159	missense	probably benign	0.06
IGL02556:Naga	APN	15	82330136	missense	probably damaging	1.00
IGL02934:Naga	APN	15	82330200	missense	possibly damaging	0.46
IGL03135:Naga	APN	15	82330741	missense	probably damaging	1.00
IGL03308:Naga	APN	15	82335887	missense	probably damaging	1.00
Gui_lin	UTSW	15	82336894	nonsense	probably null
R0485:Naga	UTSW	15	82336755	splice site	probably benign
R1179:Naga	UTSW	15	82330156	missense	probably benign	0.31
R1466:Naga	UTSW	15	82334788	missense	probably null	0.86
R1466:Naga	UTSW	15	82334788	missense	probably null	0.86
R1802:Naga	UTSW	15	82337468	missense	probably benign	0.39
R2520:Naga	UTSW	15	82330094	missense	probably benign	0.00
R4306:Naga	UTSW	15	82336894	nonsense	probably null
R4493:Naga	UTSW	15	82332514	missense	probably damaging	1.00
R5117:Naga	UTSW	15	82337456	missense	probably damaging	1.00
R5738:Naga	UTSW	15	82334853	nonsense	probably null
R6080:Naga	UTSW	15	82334847	missense	probably benign	0.02
R6290:Naga	UTSW	15	82334856	missense	possibly damaging	0.94
R6320:Naga	UTSW	15	82332203	splice site	probably null
R6658:Naga	UTSW	15	82330774	missense	probably benign	0.02
R7597:Naga	UTSW	15	82334834	missense	probably benign	0.06
R7727:Naga	UTSW	15	82330147	missense	probably benign	0.01
R9320:Naga	UTSW	15	82336883	missense	probably damaging	1.00
Z1177:Naga	UTSW	15	82336814	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTCTCAACCCCTGTGAATCCAGAC -3'
(R):5'- CAGCAAGGTGACTGGTGCTAACTC -3'

Sequencing Primer
(F):5'- caggagcaaaattagttatgaagaag -3'
(R):5'- GACTGGTGCTAACTCCTGCC -3'

Posted On

2014-04-24