Mutagenetix > Incidental Mutation

Incidental Mutation 'R5516:Nags'

431303

Institutional Source

Beutler Lab

Gene Symbol

Nags

Ensembl Gene

ENSMUSG00000048217

Gene Name

N-acetylglutamate synthase

Synonyms

1700120E20Rik

MMRRC Submission

043075-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.816) question?

Stock #

R5516 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102036339-102040303 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 102036773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 121 (Q121*)

Ref Sequence

ENSEMBL: ENSMUSP00000050258 (fasta)

Gene Model

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

AlphaFold

Q8R4H7

Predicted Effect

probably null
Transcript: ENSMUST00000055409
AA Change: Q121*

SMART Domains

Protein: ENSMUSP00000050258
Gene: ENSMUSG00000048217
AA Change: Q121*

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

0.9754

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.2%
20x: 90.4%

Validation Efficiency

97% (58/60)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,306,901 (GRCm39)	K334R	probably damaging	Het
Aldh1l1	A	T	6: 90,573,927 (GRCm39)	I809F	possibly damaging	Het
Bmp2k	T	A	5: 97,235,312 (GRCm39)		probably benign	Het
C1qtnf9	T	A	14: 61,017,198 (GRCm39)	C243S	probably damaging	Het
Cacna1c	G	A	6: 119,034,179 (GRCm39)	A146V	probably damaging	Het
Ccdc85c	A	G	12: 108,174,109 (GRCm39)	V353A	probably damaging	Het
Cd300ld2	G	T	11: 114,903,270 (GRCm39)		probably benign	Het
Cd320	A	G	17: 34,067,021 (GRCm39)	Q170R	possibly damaging	Het
Cfap43	C	T	19: 47,726,648 (GRCm39)		probably null	Het
Chid1	A	G	7: 141,076,059 (GRCm39)	S365P	probably damaging	Het
Chrna7	T	G	7: 62,749,046 (GRCm39)	T479P	probably damaging	Het
Clasp1	G	T	1: 118,425,451 (GRCm39)	R35L	probably damaging	Het
Cluh	G	A	11: 74,551,270 (GRCm39)	R373H	probably damaging	Het
Cyp2b23	G	A	7: 26,372,482 (GRCm39)	R378*	probably null	Het
Cyp2d9	T	G	15: 82,338,528 (GRCm39)	N136K	probably null	Het
Efcab5	A	T	11: 77,079,615 (GRCm39)	S44T	possibly damaging	Het
Esrrg	A	T	1: 187,930,927 (GRCm39)	L316F	possibly damaging	Het
Fam222a	T	C	5: 114,749,889 (GRCm39)	Y362H	probably damaging	Het
Fat3	A	G	9: 15,910,005 (GRCm39)	V1999A	probably damaging	Het
Fes	A	T	7: 80,036,931 (GRCm39)	M51K	probably damaging	Het
Fmo3	T	A	1: 162,781,995 (GRCm39)	K453*	probably null	Het
Galnt1	A	G	18: 24,413,074 (GRCm39)	N458S	probably benign	Het
Gm8888	T	A	15: 96,664,855 (GRCm39)		noncoding transcript	Het
Gpn2	G	A	4: 133,312,190 (GRCm39)		probably null	Het
Grm4	G	A	17: 27,657,385 (GRCm39)	T464I	probably benign	Het
Insr	T	A	8: 3,205,764 (GRCm39)	K1342*	probably null	Het
Krt87	T	A	15: 101,385,002 (GRCm39)	K365*	probably null	Het
Lfng	T	C	5: 140,599,018 (GRCm39)	L309P	probably damaging	Het
Lnpk	T	C	2: 74,378,132 (GRCm39)		probably benign	Het
Lrrc8e	A	C	8: 4,285,818 (GRCm39)	D681A	probably damaging	Het
Lyst	G	A	13: 13,818,707 (GRCm39)	D1326N	probably benign	Het
Mmp27	A	G	9: 7,579,063 (GRCm39)	R413G	probably null	Het
Nectin1	A	G	9: 43,715,090 (GRCm39)	E442G	probably benign	Het
Nek1	G	C	8: 61,542,523 (GRCm39)	A729P	probably benign	Het
Or51a24	A	G	7: 103,733,444 (GRCm39)	I281T	possibly damaging	Het
Pnp2	C	T	14: 51,201,195 (GRCm39)	A189V	probably benign	Het
Ppm1m	T	A	9: 106,075,138 (GRCm39)	I136F	probably damaging	Het
Pramel21	A	G	4: 143,342,253 (GRCm39)	Q120R	possibly damaging	Het
Psg17	G	T	7: 18,548,458 (GRCm39)	Q438K	probably benign	Het
Ptprk	C	T	10: 28,372,926 (GRCm39)	R726*	probably null	Het
Rab3gap2	A	T	1: 184,967,684 (GRCm39)	Y163F	probably benign	Het
Scrib	A	T	15: 75,934,712 (GRCm39)	L627Q	possibly damaging	Het
Tcp1	A	G	17: 13,143,221 (GRCm39)	K510R	probably damaging	Het
Tle4	A	T	19: 14,432,253 (GRCm39)	I481N	probably damaging	Het
Tmem43	G	T	6: 91,455,192 (GRCm39)	R56L	possibly damaging	Het
Trmt10a	T	C	3: 137,857,957 (GRCm39)	I168T	possibly damaging	Het
Trpv1	A	T	11: 73,136,809 (GRCm39)	Y96F	probably benign	Het
Tshz3	C	T	7: 36,469,775 (GRCm39)	T588I	probably benign	Het
Ugt2b38	A	G	5: 87,559,702 (GRCm39)	F397L	probably damaging	Het
Vmn2r11	A	G	5: 109,195,032 (GRCm39)	S765P	probably damaging	Het
Zfp668	A	G	7: 127,466,318 (GRCm39)	F289L	probably damaging	Het
Zfp735	A	G	11: 73,601,640 (GRCm39)	T195A	probably benign	Het
Zscan10	A	G	17: 23,828,333 (GRCm39)	T182A	possibly damaging	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
R0573:Nags	UTSW	11	102,037,805 (GRCm39)	missense	probably damaging	0.97
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
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'- TAAGGGTCGTGTCCAGTCTC -3'
(R):5'- TCAGACATCACTTCTGGAGGCC -3'

Sequencing Primer
(F):5'- TGTCCAGTCTCCTGCGG -3'
(R):5'- TTCTCCTTAGCGCCAAGGG -3'

Posted On

2016-10-05