Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02512:Nampt'

296608

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nampt

Ensembl Gene

ENSMUSG00000020572

Gene Name

nicotinamide phosphoribosyltransferase

Synonyms

1110035O14Rik, Visfatin, Pbef1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02512

Quality Score

Status

Chromosome

Chromosomal Location

32870334-32903368 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32880268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 54 (Y54N)

Ref Sequence

ENSEMBL: ENSMUSP00000020886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020886] [ENSMUST00000220200]

AlphaFold

Q99KQ4

PDB Structure

Crystal Structure of Murine NMPRTase [X-RAY DIFFRACTION]
Crystal Structure of Mouse Nicotinamide Phosphoribosyltransferase/Visfatin/Pre-B Cell Colony Enhancing Factor 1 [X-RAY DIFFRACTION]
Crystal Structure of Mouse Nicotinamide Phosphoribosyltransferase/Visfatin/Pre-B Cell Colony Enhancing Factor in Complex with Nicotinamide Mononuleotide [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020886
AA Change: Y54N

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000020886
Gene: ENSMUSG00000020572
AA Change: Y54N

Domain	Start	End	E-Value	Type
Pfam:NAPRTase	188	466	1.6e-73	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218491

Predicted Effect

probably benign
Transcript: ENSMUST00000220200

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that catalyzes the condensation of nicotinamide with 5-phosphoribosyl-1-pyrophosphate to yield nicotinamide mononucleotide, one step in the biosynthesis of nicotinamide adenine dinucleotide. The protein belongs to the nicotinic acid phosphoribosyltransferase (NAPRTase) family and is thought to be involved in many important biological processes, including metabolism, stress response and aging. This gene has a pseudogene on chromosome 10. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality prior to E10.5. Mice heterozygous for a null allele exhibit increased fasted glucose in male mice and impaired glucose tolerance and decresed glucose-stimulated insulin secretion in female mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg10b	C	A	15: 90,111,752 (GRCm39)	H199N	probably benign	Het
Ankrd13a	T	A	5: 114,924,827 (GRCm39)	M104K	probably benign	Het
Ankrd37	A	G	8: 46,452,325 (GRCm39)	L48P	probably damaging	Het
Ankzf1	T	A	1: 75,169,222 (GRCm39)	L43M	probably damaging	Het
Ano10	A	C	9: 122,101,540 (GRCm39)	V77G	possibly damaging	Het
Arg2	G	A	12: 79,194,517 (GRCm39)	V114I	probably benign	Het
Asah1	A	C	8: 41,813,344 (GRCm39)		probably benign	Het
Clpx	A	C	9: 65,217,533 (GRCm39)	I34L	probably benign	Het
Cnga2	G	A	X: 71,052,531 (GRCm39)	V469I	probably damaging	Het
Dock9	A	T	14: 121,856,950 (GRCm39)		probably benign	Het
Eaf1	A	G	14: 31,219,743 (GRCm39)	T61A	possibly damaging	Het
Exoc3l	T	A	8: 106,017,115 (GRCm39)	D624V	probably damaging	Het
Fancd2	A	G	6: 113,547,904 (GRCm39)	D927G	probably damaging	Het
Fbn1	A	T	2: 125,180,380 (GRCm39)	Y1801N	probably damaging	Het
Garnl3	A	G	2: 32,921,150 (GRCm39)	Y292H	probably damaging	Het
Gpr174	A	T	X: 106,336,577 (GRCm39)	K130*	probably null	Het
Greb1	C	T	12: 16,742,713 (GRCm39)	V1379I	possibly damaging	Het
Grik2	A	T	10: 49,232,008 (GRCm39)	D507E	probably benign	Het
Gsn	A	T	2: 35,173,962 (GRCm39)	K24*	probably null	Het
Ift80	A	G	3: 68,835,058 (GRCm39)		probably null	Het
Inpp5j	T	A	11: 3,449,661 (GRCm39)	Y707F	probably damaging	Het
Ints13	A	T	6: 146,477,855 (GRCm39)	D31E	probably damaging	Het
Kcnh1	T	C	1: 192,187,689 (GRCm39)	F717L	possibly damaging	Het
Klhdc8a	T	C	1: 132,230,895 (GRCm39)		probably null	Het
Klkb1	G	A	8: 45,729,277 (GRCm39)		probably benign	Het
Krt16	A	T	11: 100,137,162 (GRCm39)		probably benign	Het
Msh6	T	C	17: 88,292,160 (GRCm39)	V305A	probably benign	Het
Myo6	T	A	9: 80,199,801 (GRCm39)		probably null	Het
Neurog2	G	T	3: 127,427,504 (GRCm39)	E43*	probably null	Het
Obscn	C	T	11: 58,919,343 (GRCm39)	R6887H	probably damaging	Het
Or10ag58	A	G	2: 87,265,402 (GRCm39)	I190M	possibly damaging	Het
Or5ac25	T	C	16: 59,182,171 (GRCm39)	N137D	possibly damaging	Het
Or6c203	A	G	10: 129,010,119 (GRCm39)	I257T	possibly damaging	Het
Pdss1	A	G	2: 22,802,658 (GRCm39)	I166V	probably damaging	Het
Phaf1	G	A	8: 105,961,110 (GRCm39)		probably benign	Het
Ptpn21	T	C	12: 98,645,651 (GRCm39)	T1096A	probably benign	Het
Reln	A	G	5: 22,245,425 (GRCm39)	Y728H	probably benign	Het
Sec31a	T	C	5: 100,555,052 (GRCm39)	D56G	probably damaging	Het
Shroom1	T	A	11: 53,357,386 (GRCm39)	V683E	probably damaging	Het
Slc5a11	A	G	7: 122,864,478 (GRCm39)	D358G	probably damaging	Het
Slfn3	T	A	11: 83,103,851 (GRCm39)	S241T	possibly damaging	Het
Slitrk3	G	A	3: 72,957,735 (GRCm39)	P346S	probably benign	Het
Specc1	T	A	11: 62,009,215 (GRCm39)	S324T	probably damaging	Het
Sptlc3	T	C	2: 139,389,123 (GRCm39)	Y168H	probably damaging	Het
St3gal6	C	T	16: 58,293,822 (GRCm39)	E236K	probably benign	Het
Tet2	A	T	3: 133,175,069 (GRCm39)	M1426K	probably benign	Het
Tinag	A	T	9: 76,939,069 (GRCm39)		probably benign	Het
Tjp1	A	G	7: 64,993,415 (GRCm39)	S53P	probably damaging	Het
Uimc1	T	C	13: 55,188,431 (GRCm39)	T543A	possibly damaging	Het
Wdfy4	A	G	14: 32,764,448 (GRCm39)	W2147R	probably benign	Het
Zmym1	C	T	4: 126,942,465 (GRCm39)	C641Y	probably damaging	Het

Other mutations in Nampt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02437:Nampt	APN	12	32,880,215 (GRCm39)	missense	probably damaging	1.00
IGL03095:Nampt	APN	12	32,892,685 (GRCm39)	missense	possibly damaging	0.85
Nacht	UTSW	12	32,883,037 (GRCm39)	missense	probably damaging	1.00
R0020:Nampt	UTSW	12	32,891,012 (GRCm39)	missense	probably damaging	0.97
R0417:Nampt	UTSW	12	32,883,100 (GRCm39)	missense	probably benign	0.01
R1087:Nampt	UTSW	12	32,883,042 (GRCm39)	missense	possibly damaging	0.88
R1781:Nampt	UTSW	12	32,883,037 (GRCm39)	missense	probably damaging	1.00
R2137:Nampt	UTSW	12	32,880,309 (GRCm39)	missense	probably benign
R2138:Nampt	UTSW	12	32,888,421 (GRCm39)	missense	possibly damaging	0.46
R3699:Nampt	UTSW	12	32,898,758 (GRCm39)	splice site	probably benign
R3970:Nampt	UTSW	12	32,883,095 (GRCm39)	missense	probably benign	0.02
R4434:Nampt	UTSW	12	32,888,362 (GRCm39)	missense	probably damaging	1.00
R4785:Nampt	UTSW	12	32,898,713 (GRCm39)	missense	possibly damaging	0.95
R5046:Nampt	UTSW	12	32,883,037 (GRCm39)	missense	probably damaging	1.00
R5055:Nampt	UTSW	12	32,883,120 (GRCm39)	missense	possibly damaging	0.94
R5427:Nampt	UTSW	12	32,884,914 (GRCm39)	missense	probably benign	0.00
R6063:Nampt	UTSW	12	32,898,658 (GRCm39)	missense	probably damaging	1.00
R6136:Nampt	UTSW	12	32,880,301 (GRCm39)	missense	probably benign	0.24
R6995:Nampt	UTSW	12	32,898,742 (GRCm39)	missense	probably benign	0.24
R7569:Nampt	UTSW	12	32,900,433 (GRCm39)	missense	probably benign
R8801:Nampt	UTSW	12	32,888,373 (GRCm39)	missense	possibly damaging	0.62
R8802:Nampt	UTSW	12	32,900,435 (GRCm39)	missense	probably benign	0.15
R9056:Nampt	UTSW	12	32,888,458 (GRCm39)	critical splice donor site	probably null
R9071:Nampt	UTSW	12	32,892,781 (GRCm39)	missense	probably damaging	1.00
R9729:Nampt	UTSW	12	32,900,528 (GRCm39)	missense	possibly damaging	0.86

Posted On

2015-04-16