Mutagenetix > Incidental Mutation

Incidental Mutation 'R9546:Nags'

720132

Institutional Source

Beutler Lab

Gene Symbol

Nags

Ensembl Gene

ENSMUSG00000048217

Gene Name

N-acetylglutamate synthase

Synonyms

1700120E20Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.737) question?

Stock #

R9546 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102145513-102149477 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102148255 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 471 (T471S)

Ref Sequence

ENSEMBL: ENSMUSP00000050258 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021296] [ENSMUST00000055409]

AlphaFold

Q8R4H7

Predicted Effect

probably benign
Transcript: ENSMUST00000021296

SMART Domains

Protein: ENSMUSP00000021296
Gene: ENSMUSG00000020921

Domain	Start	End	E-Value	Type
Pfam:TMEM101	8	256	9.9e-122	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000055409
AA Change: T471S

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000050258
Gene: ENSMUSG00000048217
AA Change: T471S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

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
Abca6	G	A	11: 110,244,216	Q248*	probably null	Het
Adgrf4	A	T	17: 42,667,392	C353*	probably null	Het
Aifm3	T	C	16: 17,499,740	V75A	probably benign	Het
Apc	A	G	18: 34,312,258	K736E	possibly damaging	Het
Atad2	A	G	15: 58,126,577	S168P	probably damaging	Het
Ccdc122	T	A	14: 77,068,873	V28E	probably damaging	Het
Cd5l	T	C	3: 87,360,894	V16A	probably benign	Het
Cdk11b	T	C	4: 155,649,132	S682P	unknown	Het
Chd8	T	C	14: 52,215,951	I1218V	probably damaging	Het
Clec1b	A	C	6: 129,405,204	I215L	probably benign	Het
Dnah14	A	C	1: 181,593,427		probably null	Het
Ednrb	T	C	14: 103,843,023	I152V	probably benign	Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Epn2	T	C	11: 61,546,581	E55G	probably damaging	Het
Ern1	A	G	11: 106,410,027	S514P	probably benign	Het
Fbxo4	G	A	15: 3,969,011	P322S	probably damaging	Het
Gli3	T	A	13: 15,613,858	D149E	probably benign	Het
Gm10436	C	A	12: 88,181,881		probably benign	Het
Gm12258	A	G	11: 58,859,096	K366E	unknown	Het
Gm9195	G	T	14: 72,480,907	H110N	possibly damaging	Het
Grb10	A	G	11: 11,943,919	I389T	probably benign	Het
Grip1	G	A	10: 120,038,664	E778K	possibly damaging	Het
Hexb	T	C	13: 97,185,668	D203G	probably damaging	Het
Hhatl	A	G	9: 121,789,583	Y118H	probably damaging	Het
Ighv1-69	A	G	12: 115,623,265	F83L	possibly damaging	Het
Iglon5	A	T	7: 43,474,467	M336K	probably benign	Het
Iyd	A	T	10: 3,551,884	I177F	possibly damaging	Het
Kdm4c	A	C	4: 74,404,867	D1012A	possibly damaging	Het
Klhl12	T	A	1: 134,485,824	L349Q	probably damaging	Het
Lrp2	A	G	2: 69,456,821		probably null	Het
Mrm2	T	A	5: 140,328,579	H167L	probably damaging	Het
Mrpl50	T	A	4: 49,514,338	H111L	probably damaging	Het
Nod2	A	T	8: 88,652,993	R41W	probably benign	Het
Notch1	T	A	2: 26,481,115	N320Y	probably damaging	Het
Nr2c1	A	G	10: 94,190,666	K468E	possibly damaging	Het
Nsf	G	A	11: 103,910,449	Q247*	probably null	Het
Obsl1	T	C	1: 75,505,386	H280R	probably damaging	Het
Olfr1181	T	C	2: 88,423,705	M107V	probably benign	Het
Pcdha3	C	T	18: 36,946,336	R44C	probably damaging	Het
Pcsk4	A	G	10: 80,321,907	S623P	possibly damaging	Het
Pdcd6ip	A	T	9: 113,655,106	Y818N	unknown	Het
Plk2	T	A	13: 110,398,767	I445K	possibly damaging	Het
Prdm2	A	T	4: 143,134,991	S576R	probably damaging	Het
Prl3d1	A	T	13: 27,094,999	Y59F	probably benign	Het
Ptprj	C	T	2: 90,444,461	V1186I	probably benign	Het
Raly	AGCAGCAGTGGTGGAGGAGGAGGCAGCAGTGGTGGAGG	AGCAGCAGTGGTGGAGG	2: 154,863,834		probably benign	Het
Ros1	C	T	10: 52,118,119		probably null	Het
Ryr2	C	T	13: 11,587,215		probably null	Het
Scn7a	A	T	2: 66,752,259	I98N	possibly damaging	Het
Soga3	C	A	10: 29,146,809	R51S	probably damaging	Het
Spi1	T	A	2: 91,113,272	S54T	probably benign	Het
Ssna1	C	T	2: 25,272,304	V16I	probably benign	Het
Sult3a2	G	A	10: 33,779,674	P103L	possibly damaging	Het
Syne1	C	T	10: 5,243,123	G3975D	probably damaging	Het
Tbc1d1	T	C	5: 64,173,607	V43A	possibly damaging	Het
Uba5	A	G	9: 104,054,368	S222P	probably damaging	Het
Vmn2r24	A	C	6: 123,787,307	E381A	probably damaging	Het
Vmn2r95	G	A	17: 18,441,459	G489D	probably benign	Het
Wdr17	A	T	8: 54,659,700	F789I	probably damaging	Het
Xpnpep1	A	T	19: 53,002,528	L422Q	probably damaging	Het
Zcchc11	A	G	4: 108,513,232	D776G	probably benign	Het
Zfand3	T	A	17: 30,153,328	H107Q	probably benign	Het

Other mutations in Nags

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Nags	APN	11	102149066	missense	probably damaging	1.00
IGL02308:Nags	APN	11	102149071	makesense	probably null
IGL02551:Nags	APN	11	102147941	missense	probably damaging	1.00
IGL03114:Nags	APN	11	102148988	missense	probably damaging	1.00
R0254:Nags	UTSW	11	102147945	missense	probably damaging	1.00
R0395:Nags	UTSW	11	102145704	missense	unknown
R0573:Nags	UTSW	11	102146979	missense	probably damaging	0.97
R3085:Nags	UTSW	11	102145984	missense	probably damaging	1.00
R4687:Nags	UTSW	11	102148196	missense	probably damaging	0.97
R4852:Nags	UTSW	11	102146621	nonsense	probably null
R5093:Nags	UTSW	11	102146569	missense	probably damaging	1.00
R5516:Nags	UTSW	11	102145947	nonsense	probably null
R6374:Nags	UTSW	11	102146511	missense	possibly damaging	0.58
R6713:Nags	UTSW	11	102146521	missense	probably benign	0.27
R6741:Nags	UTSW	11	102146892	missense	possibly damaging	0.88
R7082:Nags	UTSW	11	102147472	missense	possibly damaging	0.90
R7903:Nags	UTSW	11	102146677	missense	possibly damaging	0.61
R8234:Nags	UTSW	11	102148998	missense	probably damaging	1.00
R9072:Nags	UTSW	11	102147521	missense	probably damaging	1.00
R9073:Nags	UTSW	11	102147521	missense	probably damaging	1.00
R9090:Nags	UTSW	11	102146758	missense	probably benign	0.25
R9271:Nags	UTSW	11	102146758	missense	probably benign	0.25
X0017:Nags	UTSW	11	102145747	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TCGGTTGCACTCGATCTATGTC -3'
(R):5'- TCCTAATAGCGTGCCACTGG -3'

Sequencing Primer
(F):5'- GCACTCGATCTATGTCTCTGAGG -3'
(R):5'- CCACTGGCTTTGCAGAAATG -3'

Posted On

2022-07-18