Mutagenetix > Incidental Mutation

Incidental Mutation 'R0573:Nags'

46544

Institutional Source

Beutler Lab

Gene Symbol

Nags

Ensembl Gene

ENSMUSG00000048217

Gene Name

N-acetylglutamate synthase

Synonyms

1700120E20Rik

MMRRC Submission

038763-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.788) question?

Stock #

R0573 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102036339-102040303 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102037805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 266 (D266G)

Ref Sequence

ENSEMBL: ENSMUSP00000050258 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055409]

AlphaFold

Q8R4H7

Predicted Effect

probably damaging
Transcript: ENSMUST00000055409
AA Change: D266G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050258
Gene: ENSMUSG00000048217
AA Change: D266G

Domain	Start	End	E-Value	Type
low complexity region	9	48	N/A	INTRINSIC
low complexity region	77	90	N/A	INTRINSIC
Pfam:NAT	349	514	3.5e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123060

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129799

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147252

Meta Mutation Damage Score

0.3008

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.5%

Validation Efficiency

97% (60/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The N-acetylglutamate synthase gene encodes a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A. NAG is a cofactor of carbamyl phosphate synthetase I (CPSI), the first enzyme of the urea cycle in mammals. This gene may regulate ureagenesis by altering NAG availability and, thereby, CPSI activity. Deficiencies in N-acetylglutamate synthase have been associated with hyperammonemia. [provided by RefSeq, Jul 2008]
PHENOTYPE: In the absence of N-carbamyl-L-glutamate and L-citrulline supplementation homozygous null mice develop severe hyperammonemia and die. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	T	12: 113,455,278 (GRCm39)	K698N	possibly damaging	Het
Adcy8	A	T	15: 64,694,044 (GRCm39)	V411D	probably damaging	Het
Arfgef3	T	A	10: 18,475,036 (GRCm39)	E1550V	probably damaging	Het
Asb3	T	A	11: 31,011,406 (GRCm39)	I306K	probably damaging	Het
Asic4	T	A	1: 75,445,746 (GRCm39)		probably benign	Het
Basp1	G	T	15: 25,364,948 (GRCm39)	D16E	unknown	Het
Cbll1	A	T	12: 31,540,539 (GRCm39)	I123N	probably damaging	Het
Ccdc141	A	T	2: 76,869,837 (GRCm39)	H889Q	probably benign	Het
Ccdc65	T	C	15: 98,618,930 (GRCm39)	V303A	probably benign	Het
Ceacam20	T	A	7: 19,720,593 (GRCm39)	M60K	probably damaging	Het
Chd9	T	A	8: 91,725,223 (GRCm39)	V711D	probably damaging	Het
Clcn1	T	A	6: 42,289,979 (GRCm39)		probably null	Het
Col16a1	A	T	4: 129,962,268 (GRCm39)		probably benign	Het
Col4a3	C	A	1: 82,694,084 (GRCm39)	P1568Q	possibly damaging	Het
Colec12	C	A	18: 9,858,650 (GRCm39)	P478T	probably damaging	Het
Dchs1	T	C	7: 105,407,985 (GRCm39)	H1949R	probably damaging	Het
Dgka	A	G	10: 128,572,876 (GRCm39)		probably null	Het
Dlgap4	A	G	2: 156,588,111 (GRCm39)	I669V	probably benign	Het
Dsg1c	T	A	18: 20,412,298 (GRCm39)	D543E	probably benign	Het
Egflam	A	T	15: 7,271,906 (GRCm39)	C677*	probably null	Het
Eml5	A	C	12: 98,791,031 (GRCm39)		probably null	Het
Fbn1	G	A	2: 125,231,169 (GRCm39)	R466C	probably damaging	Het
Fnbp1	C	A	2: 30,948,990 (GRCm39)	D198Y	probably damaging	Het
Gfra3	T	A	18: 34,824,668 (GRCm39)	M272L	probably benign	Het
Gm5422	T	A	10: 31,126,156 (GRCm39)		noncoding transcript	Het
Gpr21	T	A	2: 37,407,556 (GRCm39)	I34N	probably damaging	Het
Hspb2	G	T	9: 50,662,664 (GRCm39)	T155K	probably benign	Het
Il21r	A	G	7: 125,224,457 (GRCm39)	T24A	probably benign	Het
Mmadhc	T	A	2: 50,182,847 (GRCm39)	H43L	possibly damaging	Het
Morn1	T	A	4: 155,195,473 (GRCm39)	D278E	possibly damaging	Het
Myoc	T	C	1: 162,476,243 (GRCm39)	Y316H	probably damaging	Het
Nlrp4b	A	G	7: 10,448,142 (GRCm39)	N115S	probably benign	Het
Nlrp5	T	A	7: 23,117,056 (GRCm39)	I260N	probably damaging	Het
Obscn	G	A	11: 58,926,905 (GRCm39)	R6190C	probably damaging	Het
Or5b24	T	C	19: 12,912,624 (GRCm39)	V174A	possibly damaging	Het
Or5be3	A	G	2: 86,863,812 (GRCm39)	F251S	probably damaging	Het
Orc4	C	T	2: 48,807,285 (GRCm39)	M215I	probably benign	Het
Osbpl6	A	T	2: 76,420,735 (GRCm39)	H770L	probably damaging	Het
Otogl	A	C	10: 107,616,849 (GRCm39)	N1809K	probably benign	Het
Pde3a	G	T	6: 141,437,957 (GRCm39)	V1009L	probably damaging	Het
Pign	T	C	1: 105,580,902 (GRCm39)	Y159C	probably damaging	Het
Pik3cg	C	A	12: 32,247,196 (GRCm39)	M842I	probably damaging	Het
Pnliprp1	C	T	19: 58,723,314 (GRCm39)	T235I	possibly damaging	Het
Pramel17	A	C	4: 101,692,611 (GRCm39)	V463G	probably damaging	Het
Prpf8	A	G	11: 75,381,480 (GRCm39)	N239D	probably damaging	Het
Psd2	T	A	18: 36,113,546 (GRCm39)		probably benign	Het
Ptprt	T	C	2: 161,393,668 (GRCm39)	D1251G	probably damaging	Het
Pwp2	G	A	10: 78,018,520 (GRCm39)	S88L	probably benign	Het
Rassf4	C	T	6: 116,624,516 (GRCm39)		probably benign	Het
Rexo1	A	G	10: 80,380,684 (GRCm39)	S884P	probably damaging	Het
Rgs20	C	A	1: 5,091,037 (GRCm39)	R131L	possibly damaging	Het
Setd4	A	G	16: 93,386,834 (GRCm39)	V288A	probably benign	Het
Stx3	G	T	19: 11,763,110 (GRCm39)	T160K	probably damaging	Het
Tas2r102	T	A	6: 132,739,636 (GRCm39)	S181R	probably damaging	Het
Tenm3	T	C	8: 49,127,434 (GRCm39)		probably benign	Het
Tmem33	T	C	5: 67,421,603 (GRCm39)		probably benign	Het
Trim33	A	G	3: 103,259,306 (GRCm39)		probably benign	Het
Trip11	A	G	12: 101,853,119 (GRCm39)	I491T	probably benign	Het
Trp53bp1	A	G	2: 121,058,653 (GRCm39)		probably benign	Het
Tuba4a	T	C	1: 75,193,017 (GRCm39)	D199G	probably benign	Het
Zcchc4	A	G	5: 52,953,321 (GRCm39)	Y110C	probably damaging	Het
Zp2	C	T	7: 119,734,693 (GRCm39)		probably benign	Het

Other mutations in Nags

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Nags	APN	11	102,039,892 (GRCm39)	missense	probably damaging	1.00
IGL02308:Nags	APN	11	102,039,897 (GRCm39)	makesense	probably null
IGL02551:Nags	APN	11	102,038,767 (GRCm39)	missense	probably damaging	1.00
IGL03114:Nags	APN	11	102,039,814 (GRCm39)	missense	probably damaging	1.00
R0254:Nags	UTSW	11	102,038,771 (GRCm39)	missense	probably damaging	1.00
R0395:Nags	UTSW	11	102,036,530 (GRCm39)	missense	unknown
R3085:Nags	UTSW	11	102,036,810 (GRCm39)	missense	probably damaging	1.00
R4687:Nags	UTSW	11	102,039,022 (GRCm39)	missense	probably damaging	0.97
R4852:Nags	UTSW	11	102,037,447 (GRCm39)	nonsense	probably null
R5093:Nags	UTSW	11	102,037,395 (GRCm39)	missense	probably damaging	1.00
R5516:Nags	UTSW	11	102,036,773 (GRCm39)	nonsense	probably null
R6374:Nags	UTSW	11	102,037,337 (GRCm39)	missense	possibly damaging	0.58
R6713:Nags	UTSW	11	102,037,347 (GRCm39)	missense	probably benign	0.27
R6741:Nags	UTSW	11	102,037,718 (GRCm39)	missense	possibly damaging	0.88
R7082:Nags	UTSW	11	102,038,298 (GRCm39)	missense	possibly damaging	0.90
R7903:Nags	UTSW	11	102,037,503 (GRCm39)	missense	possibly damaging	0.61
R8234:Nags	UTSW	11	102,039,824 (GRCm39)	missense	probably damaging	1.00
R9072:Nags	UTSW	11	102,038,347 (GRCm39)	missense	probably damaging	1.00
R9073:Nags	UTSW	11	102,038,347 (GRCm39)	missense	probably damaging	1.00
R9090:Nags	UTSW	11	102,037,584 (GRCm39)	missense	probably benign	0.25
R9271:Nags	UTSW	11	102,037,584 (GRCm39)	missense	probably benign	0.25
R9546:Nags	UTSW	11	102,039,081 (GRCm39)	missense	probably damaging	0.97
X0017:Nags	UTSW	11	102,036,573 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- GCTGGTGGATGAACTAAGGCACAAC -3'
(R):5'- TGGACCTCTCCGTGACCACTTAAC -3'

Sequencing Primer
(F):5'- CATGCCAGGTTAGTGTCAAC -3'
(R):5'- CCTACTCTATTGGCTTGAGAGTGAC -3'

Posted On

2013-06-11