Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03114:Nags'

419335

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 #

IGL03114

Quality Score

Status

Chromosome

Chromosomal Location

102036339-102040303 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102039814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 501 (I501F)

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: I501F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050258
Gene: ENSMUSG00000048217
AA Change: I501F

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	T	3: 59,651,144 (GRCm39)	I89F	possibly damaging	Het
Abca13	T	A	11: 9,478,999 (GRCm39)	H4282Q	probably benign	Het
Acta2	A	G	19: 34,222,310 (GRCm39)		probably null	Het
Arl10	A	G	13: 54,723,579 (GRCm39)		probably benign	Het
Avpr1a	A	G	10: 122,285,623 (GRCm39)	Y305C	probably damaging	Het
Bmpr2	T	A	1: 59,906,603 (GRCm39)	N565K	probably damaging	Het
Boc	A	T	16: 44,307,115 (GRCm39)	S1035R	probably benign	Het
Brd10	A	T	19: 29,694,532 (GRCm39)	S1654T	probably benign	Het
Ccdc7a	T	C	8: 129,753,170 (GRCm39)	N187S	possibly damaging	Het
Cntn5	C	T	9: 9,748,457 (GRCm39)	E680K	probably damaging	Het
Copa	T	A	1: 171,946,835 (GRCm39)	Y1014*	probably null	Het
Csmd3	A	G	15: 47,683,847 (GRCm39)	S1662P	probably damaging	Het
Cyp2e1	T	C	7: 140,353,042 (GRCm39)	F360L	possibly damaging	Het
Efnb3	A	T	11: 69,447,628 (GRCm39)		probably benign	Het
Egf	A	T	3: 129,530,529 (GRCm39)	L211Q	probably damaging	Het
Eno1	G	A	4: 150,325,583 (GRCm39)	R56H	probably benign	Het
Fyb2	A	G	4: 104,852,975 (GRCm39)	T552A	probably damaging	Het
Git2	G	A	5: 114,871,918 (GRCm39)		probably benign	Het
Gtf2ird2	A	G	5: 134,245,752 (GRCm39)		probably null	Het
Hyal4	A	T	6: 24,755,964 (GRCm39)	I61L	probably benign	Het
Kat14	T	C	2: 144,217,885 (GRCm39)		probably null	Het
Kif13b	T	C	14: 65,025,897 (GRCm39)	V1418A	probably benign	Het
Lcn12	T	C	2: 25,383,274 (GRCm39)	K35E	probably benign	Het
Lyrm7	G	T	11: 54,741,198 (GRCm39)	N45K	possibly damaging	Het
Mical2	G	T	7: 111,996,764 (GRCm39)	G559V	probably damaging	Het
Mtrr	A	T	13: 68,712,441 (GRCm39)	C648*	probably null	Het
Muc5b	C	A	7: 141,412,556 (GRCm39)	S1834*	probably null	Het
Mup16	G	A	4: 61,436,250 (GRCm39)	T101M	probably benign	Het
Myof	A	T	19: 37,892,309 (GRCm39)	L1148Q	probably damaging	Het
Nbeal1	A	T	1: 60,317,886 (GRCm39)	Y672F	probably damaging	Het
Ncapg2	A	G	12: 116,415,993 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,891,365 (GRCm39)	S7056P	unknown	Het
Or52s1	T	C	7: 102,861,928 (GRCm39)	I287T	probably damaging	Het
Pde2a	C	A	7: 101,157,890 (GRCm39)		probably benign	Het
Piezo2	T	C	18: 63,163,343 (GRCm39)		probably null	Het
Pkhd1	C	A	1: 20,268,395 (GRCm39)	D3328Y	probably damaging	Het
Plxdc2	T	C	2: 16,654,935 (GRCm39)	V178A	probably damaging	Het
Prdx3	T	C	19: 60,861,556 (GRCm39)		probably benign	Het
Prkce	T	A	17: 86,961,983 (GRCm39)	D694E	probably damaging	Het
Prss1l	T	A	6: 41,374,012 (GRCm39)	C205S	probably damaging	Het
Ptdss1	T	A	13: 67,142,058 (GRCm39)	Y405*	probably null	Het
Rad54l	A	T	4: 115,955,729 (GRCm39)	W608R	probably damaging	Het
Rassf6	G	T	5: 90,756,649 (GRCm39)		probably benign	Het
Sema5a	A	T	15: 32,673,573 (GRCm39)	I804F	probably damaging	Het
Slc15a2	A	T	16: 36,572,267 (GRCm39)	I668N	probably damaging	Het
Thsd7b	A	G	1: 130,116,288 (GRCm39)	E1347G	probably benign	Het
Tmco3	T	C	8: 13,348,205 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,551,996 (GRCm39)	M31214V	probably null	Het
Uck1	G	A	2: 32,148,334 (GRCm39)	R161C	probably benign	Het
Ugt2b5	T	C	5: 87,276,209 (GRCm39)	Y355C	probably damaging	Het
Usp48	C	A	4: 137,383,436 (GRCm39)	T1031K	probably damaging	Het
Vmn1r202	G	A	13: 22,685,640 (GRCm39)	T259I	probably benign	Het
Vmn1r202	T	A	13: 22,685,500 (GRCm39)		probably benign	Het
Vmn2r90	T	C	17: 17,953,771 (GRCm39)	I645T	probably damaging	Het
Vps18	T	C	2: 119,124,132 (GRCm39)	V353A	possibly damaging	Het
Vwf	C	T	6: 125,576,326 (GRCm39)	Q469*	probably null	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
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

2016-08-02