Incidental Mutation 'IGL02437:Nampt'
ID 293328
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 # IGL02437
Quality Score
Status
Chromosome 12
Chromosomal Location 32870334-32903368 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32880215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 36 (Y36C)
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 probably damaging
Transcript: ENSMUST00000020886
AA Change: Y36C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020886
Gene: ENSMUSG00000020572
AA Change: Y36C

DomainStartEndE-ValueType
Pfam:NAPRTase 188 466 1.6e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180613
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218491
Predicted Effect unknown
Transcript: ENSMUST00000220200
AA Change: T32A
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Abca16 T G 7: 120,132,952 (GRCm39) C1294G probably benign Het
Abca7 T A 10: 79,844,223 (GRCm39) S1410T probably damaging Het
Abhd12 T C 2: 150,676,289 (GRCm39) D356G probably benign Het
BC004004 T C 17: 29,517,671 (GRCm39) L295P probably damaging Het
Bpifc T C 10: 85,824,595 (GRCm39) S215G probably damaging Het
Bptf C T 11: 106,965,521 (GRCm39) M1109I probably benign Het
Brat1 C T 5: 140,698,563 (GRCm39) A245V possibly damaging Het
Cask G A X: 13,403,860 (GRCm39) T16I probably damaging Het
Cemip2 T C 19: 21,789,342 (GRCm39) probably null Het
Cibar2 T C 8: 120,901,525 (GRCm39) E60G probably damaging Het
Clic6 A T 16: 92,327,817 (GRCm39) I541F probably damaging Het
Clnk C T 5: 38,931,909 (GRCm39) probably null Het
Cntnap1 T A 11: 101,077,677 (GRCm39) I1113N probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp26a1 T C 19: 37,686,943 (GRCm39) S132P probably benign Het
Cyp4f13 G T 17: 33,149,582 (GRCm39) H85N probably benign Het
Dcaf15 C T 8: 84,828,445 (GRCm39) G215D probably damaging Het
Dip2a T C 10: 76,134,101 (GRCm39) T500A probably benign Het
Gbe1 T A 16: 70,231,546 (GRCm39) probably benign Het
Gli2 T A 1: 118,763,733 (GRCm39) I1473F probably damaging Het
Gm5129 A T 5: 29,940,861 (GRCm39) probably benign Het
Hdgf C T 3: 87,821,792 (GRCm39) R168C probably damaging Het
Heph A G X: 95,516,633 (GRCm39) T342A probably benign Het
Kdelr3 T C 15: 79,409,988 (GRCm39) Y158H probably damaging Het
Lamb3 C T 1: 193,010,253 (GRCm39) R289C probably damaging Het
Leng8 C T 7: 4,145,092 (GRCm39) A164V probably damaging Het
Ltn1 T C 16: 87,194,889 (GRCm39) T1337A probably benign Het
Mast3 C A 8: 71,233,202 (GRCm39) R316L possibly damaging Het
Ncapd3 T A 9: 26,975,264 (GRCm39) probably benign Het
Nipbl T C 15: 8,388,558 (GRCm39) D354G probably damaging Het
Nsd1 A T 13: 55,461,254 (GRCm39) R2494W probably damaging Het
Nt5c1a A G 4: 123,108,034 (GRCm39) N239S probably benign Het
Ogfr A G 2: 180,231,329 (GRCm39) E19G possibly damaging Het
Or11h4b A T 14: 50,918,657 (GRCm39) S145T probably benign Het
Or4c58 A G 2: 89,675,128 (GRCm39) L63P probably damaging Het
Pcna A T 2: 132,093,155 (GRCm39) probably benign Het
Pdia3 T A 2: 121,264,129 (GRCm39) V326E probably damaging Het
Phf8 T A X: 150,414,356 (GRCm39) L1002Q possibly damaging Het
Rhobtb2 T C 14: 70,033,365 (GRCm39) E535G probably damaging Het
Rusc2 G T 4: 43,415,545 (GRCm39) D284Y probably damaging Het
Samd8 A G 14: 21,825,491 (GRCm39) Y212C probably benign Het
Sash3 C A X: 47,247,672 (GRCm39) Q169K probably benign Het
Scyl1 C T 19: 5,816,224 (GRCm39) G324S probably damaging Het
Sec62 G A 3: 30,872,996 (GRCm39) G360R unknown Het
Sis T C 3: 72,826,947 (GRCm39) probably null Het
Slc6a1 T A 6: 114,285,578 (GRCm39) I338N probably damaging Het
Snrnp200 A G 2: 127,058,030 (GRCm39) D264G probably damaging Het
Tgm3 G T 2: 129,871,961 (GRCm39) probably null Het
Tnrc6b T G 15: 80,764,658 (GRCm39) L720R probably damaging Het
Tspyl4 A T 10: 34,174,228 (GRCm39) Q240L probably damaging Het
Tube1 G A 10: 39,016,846 (GRCm39) V80I probably damaging Het
Uap1l1 C T 2: 25,253,945 (GRCm39) V304M probably damaging Het
Wtap T C 17: 13,186,620 (GRCm39) N309S probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfyve26 T C 12: 79,315,621 (GRCm39) D1285G probably benign Het
Zscan20 G A 4: 128,482,210 (GRCm39) T484I probably damaging Het
Other mutations in Nampt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02512:Nampt APN 12 32,880,268 (GRCm39) missense possibly damaging 0.72
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