Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02551:Nags'

298083

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nags

Ensembl Gene

ENSMUSG00000048217

Gene Name

N-acetylglutamate synthase

Synonyms

1700120E20Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.788) question?

Stock #

IGL02551

Quality Score

Status

Chromosome

Chromosomal Location

102036339-102040303 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102038767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 403 (S403P)

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: S403P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050258
Gene: ENSMUSG00000048217
AA Change: S403P

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

Coding Region Coverage

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	G	A	1: 158,796,618 (GRCm39)		noncoding transcript	Het
Abca8a	T	C	11: 109,975,068 (GRCm39)	I109V	probably benign	Het
Acsm2	C	T	7: 119,172,507 (GRCm39)	P117S	probably damaging	Het
Adamts18	C	A	8: 114,425,704 (GRCm39)	C1186F	probably damaging	Het
Adamts5	A	T	16: 85,666,926 (GRCm39)	V522E	possibly damaging	Het
Adcy10	A	G	1: 165,370,802 (GRCm39)	T694A	probably damaging	Het
Adgra2	G	A	8: 27,609,250 (GRCm39)	V609I	probably benign	Het
Agbl3	A	G	6: 34,800,006 (GRCm39)	K638R	possibly damaging	Het
Alpk2	T	A	18: 65,505,822 (GRCm39)	N66I	probably damaging	Het
Ap3b1	T	A	13: 94,554,599 (GRCm39)	I245N	probably damaging	Het
Aqp9	A	G	9: 71,039,922 (GRCm39)	V120A	probably damaging	Het
Arhgef17	T	C	7: 100,579,553 (GRCm39)	E465G	probably damaging	Het
Btrc	G	T	19: 45,411,573 (GRCm39)	C31F	possibly damaging	Het
Calhm2	G	A	19: 47,121,539 (GRCm39)	S210L	probably damaging	Het
Cnksr3	C	A	10: 7,102,912 (GRCm39)	K153N	probably damaging	Het
Cnr1	T	C	4: 33,943,686 (GRCm39)	S25P	probably benign	Het
Dnajc6	T	A	4: 101,496,550 (GRCm39)	W838R	probably damaging	Het
Fam78a	T	A	2: 31,959,568 (GRCm39)	T181S	probably damaging	Het
Fat1	A	G	8: 45,504,435 (GRCm39)	T4600A	probably damaging	Het
Fbxo31	A	T	8: 122,293,083 (GRCm39)	Y101N	probably damaging	Het
Glmp	A	G	3: 88,232,389 (GRCm39)	M1V	probably null	Het
Gsdmc	T	A	15: 63,673,782 (GRCm39)	T168S	probably benign	Het
Has1	C	T	17: 18,068,560 (GRCm39)	V265I	probably damaging	Het
Hmcn2	A	G	2: 31,344,823 (GRCm39)	D4670G	possibly damaging	Het
Kcnj4	C	T	15: 79,369,103 (GRCm39)	M292I	probably benign	Het
Kmo	A	T	1: 175,465,485 (GRCm39)	S80C	probably damaging	Het
Lrrc8d	C	T	5: 105,961,414 (GRCm39)	T608I	possibly damaging	Het
Mical2	A	T	7: 111,923,197 (GRCm39)	N635I	probably benign	Het
Nalcn	T	A	14: 123,560,750 (GRCm39)	I776F	probably benign	Het
Ncan	A	T	8: 70,555,112 (GRCm39)	N1018K	probably damaging	Het
Notch3	T	A	17: 32,373,705 (GRCm39)		probably benign	Het
Nup93	C	T	8: 94,954,461 (GRCm39)	Q53*	probably null	Het
Pdk2	T	A	11: 94,919,412 (GRCm39)	M288L	probably benign	Het
Pkd1	A	G	17: 24,792,789 (GRCm39)	Y1492C	probably damaging	Het
Pla2g12b	T	A	10: 59,239,692 (GRCm39)	W34R	probably damaging	Het
Pla2g6	T	A	15: 79,183,294 (GRCm39)	D511V	possibly damaging	Het
Plin2	C	A	4: 86,576,929 (GRCm39)	M265I	probably benign	Het
Ppp6c	A	T	2: 39,096,669 (GRCm39)	F78I	probably damaging	Het
Prop1	A	T	11: 50,841,773 (GRCm39)	M211K	possibly damaging	Het
Prr14l	T	A	5: 32,988,828 (GRCm39)	E222D	probably damaging	Het
Rtkn	A	T	6: 83,128,905 (GRCm39)	I454F	probably damaging	Het
Serinc2	T	C	4: 130,154,567 (GRCm39)	I226V	probably benign	Het
Sh3bp1	T	A	15: 78,788,538 (GRCm39)	H229Q	probably benign	Het
Slc13a3	G	T	2: 165,266,493 (GRCm39)	F348L	probably damaging	Het
Slc6a15	T	A	10: 103,240,136 (GRCm39)		probably benign	Het
Spg7	G	A	8: 123,803,717 (GRCm39)	G249E	probably damaging	Het
Tbc1d2	T	C	4: 46,649,916 (GRCm39)	D40G	probably benign	Het
Tmcc2	A	G	1: 132,285,317 (GRCm39)	L683P	probably damaging	Het
Triobp	T	C	15: 78,857,689 (GRCm39)	S1097P	probably benign	Het
Tspan9	T	C	6: 127,942,726 (GRCm39)	D167G	probably null	Het
Ttll6	T	C	11: 96,045,526 (GRCm39)	I581T	probably benign	Het
Usp29	A	G	7: 6,966,352 (GRCm39)		probably null	Het
Vgll4	A	G	6: 114,839,254 (GRCm39)	W246R	probably damaging	Het
Vmn2r26	T	C	6: 124,003,100 (GRCm39)	V170A	probably benign	Het
Vmn2r62	T	C	7: 42,437,930 (GRCm39)	T185A	probably benign	Het
Vwce	A	G	19: 10,622,400 (GRCm39)	H234R	possibly damaging	Het
Zfp292	T	C	4: 34,806,462 (GRCm39)	E2194G	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
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
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

Posted On

2015-04-16