Incidental Mutation 'IGL00846:Naprt'
ID 12234
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Naprt
Ensembl Gene ENSMUSG00000022574
Gene Name nicotinate phosphoribosyltransferase
Synonyms 9130210N20Rik, Naprt1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # IGL00846
Quality Score
Status
Chromosome 15
Chromosomal Location 75762812-75766330 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75763637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 395 (Y395F)
Ref Sequence ENSEMBL: ENSMUSP00000023237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023235] [ENSMUST00000023237] [ENSMUST00000089680] [ENSMUST00000089681] [ENSMUST00000109972] [ENSMUST00000109975] [ENSMUST00000123712] [ENSMUST00000137426] [ENSMUST00000154584] [ENSMUST00000229571] [ENSMUST00000116440] [ENSMUST00000184858] [ENSMUST00000144614] [ENSMUST00000141268] [ENSMUST00000151066]
AlphaFold Q8CC86
Predicted Effect probably benign
Transcript: ENSMUST00000023235
SMART Domains Protein: ENSMUSP00000023235
Gene: ENSMUSG00000055762

DomainStartEndE-ValueType
low complexity region 62 75 N/A INTRINSIC
coiled coil region 82 120 N/A INTRINSIC
EF-1_beta_acid 159 186 2.53e-4 SMART
Pfam:EF1_GNE 195 245 3.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000023237
AA Change: Y395F

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000023237
Gene: ENSMUSG00000022574
AA Change: Y395F

DomainStartEndE-ValueType
PDB:4MZY|A 16 522 2e-70 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000089680
SMART Domains Protein: ENSMUSP00000087109
Gene: ENSMUSG00000055762

DomainStartEndE-ValueType
low complexity region 54 70 N/A INTRINSIC
coiled coil region 77 115 N/A INTRINSIC
EF-1_beta_acid 154 181 2.53e-4 SMART
EF1_GNE 190 276 4.87e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000089681
SMART Domains Protein: ENSMUSP00000087110
Gene: ENSMUSG00000055762

DomainStartEndE-ValueType
low complexity region 32 52 N/A INTRINSIC
low complexity region 66 76 N/A INTRINSIC
internal_repeat_2 108 136 2.92e-5 PROSPERO
low complexity region 137 156 N/A INTRINSIC
internal_repeat_2 231 259 2.92e-5 PROSPERO
internal_repeat_1 244 263 2.02e-6 PROSPERO
internal_repeat_1 389 408 2.02e-6 PROSPERO
low complexity region 441 454 N/A INTRINSIC
coiled coil region 461 499 N/A INTRINSIC
EF-1_beta_acid 538 565 2.53e-4 SMART
EF1_GNE 574 660 4.87e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109972
SMART Domains Protein: ENSMUSP00000105599
Gene: ENSMUSG00000055762

DomainStartEndE-ValueType
low complexity region 35 51 N/A INTRINSIC
coiled coil region 58 96 N/A INTRINSIC
EF-1_beta_acid 135 162 2.53e-4 SMART
EF1_GNE 171 257 4.87e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109975
SMART Domains Protein: ENSMUSP00000105602
Gene: ENSMUSG00000055762

DomainStartEndE-ValueType
low complexity region 32 52 N/A INTRINSIC
low complexity region 66 76 N/A INTRINSIC
internal_repeat_2 108 136 2.92e-5 PROSPERO
low complexity region 137 156 N/A INTRINSIC
internal_repeat_2 231 259 2.92e-5 PROSPERO
internal_repeat_1 244 263 2.02e-6 PROSPERO
internal_repeat_1 389 408 2.02e-6 PROSPERO
low complexity region 441 454 N/A INTRINSIC
coiled coil region 461 499 N/A INTRINSIC
EF-1_beta_acid 538 565 2.53e-4 SMART
EF1_GNE 574 660 4.87e-41 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129800
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134222
Predicted Effect probably benign
Transcript: ENSMUST00000123712
SMART Domains Protein: ENSMUSP00000122155
Gene: ENSMUSG00000055762

DomainStartEndE-ValueType
low complexity region 35 51 N/A INTRINSIC
coiled coil region 58 96 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137426
SMART Domains Protein: ENSMUSP00000114753
Gene: ENSMUSG00000055762

DomainStartEndE-ValueType
low complexity region 53 72 N/A INTRINSIC
internal_repeat_1 160 179 9.48e-6 PROSPERO
internal_repeat_1 305 324 9.48e-6 PROSPERO
low complexity region 330 346 N/A INTRINSIC
coiled coil region 353 391 N/A INTRINSIC
EF-1_beta_acid 430 457 2.53e-4 SMART
EF1_GNE 466 552 4.87e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154584
SMART Domains Protein: ENSMUSP00000116360
Gene: ENSMUSG00000055762

DomainStartEndE-ValueType
low complexity region 62 75 N/A INTRINSIC
coiled coil region 82 120 N/A INTRINSIC
EF-1_beta_acid 159 186 1.2e-8 SMART
EF1_GNE 195 280 4.9e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000229571
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230259
Predicted Effect probably benign
Transcript: ENSMUST00000116440
SMART Domains Protein: ENSMUSP00000112141
Gene: ENSMUSG00000055762

DomainStartEndE-ValueType
low complexity region 35 51 N/A INTRINSIC
coiled coil region 58 96 N/A INTRINSIC
EF-1_beta_acid 135 162 2.53e-4 SMART
EF1_GNE 171 257 4.87e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184858
SMART Domains Protein: ENSMUSP00000139029
Gene: ENSMUSG00000098678

DomainStartEndE-ValueType
low complexity region 3 18 N/A INTRINSIC
low complexity region 131 140 N/A INTRINSIC
low complexity region 169 183 N/A INTRINSIC
SCOP:d1qbkb_ 366 704 1e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144614
SMART Domains Protein: ENSMUSP00000123005
Gene: ENSMUSG00000055762

DomainStartEndE-ValueType
low complexity region 62 75 N/A INTRINSIC
coiled coil region 82 120 N/A INTRINSIC
EF-1_beta_acid 159 186 2.53e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000141268
SMART Domains Protein: ENSMUSP00000115553
Gene: ENSMUSG00000055762

DomainStartEndE-ValueType
low complexity region 78 94 N/A INTRINSIC
coiled coil region 101 139 N/A INTRINSIC
EF-1_beta_acid 178 205 2.53e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000151066
SMART Domains Protein: ENSMUSP00000118889
Gene: ENSMUSG00000055762

DomainStartEndE-ValueType
EF-1_beta_acid 68 95 2.53e-4 SMART
EF1_GNE 104 190 4.87e-41 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230739
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nicotinic acid (NA; niacin) is converted by nicotinic acid phosphoribosyltransferase (NAPRT; EC 2.4.2.11) to NA mononucleotide (NaMN), which is then converted to NA adenine dinucleotide (NaAD), and finally to nicotinamide adenine dinucleotide (NAD), which serves as a coenzyme in cellular redox reactions and is an essential component of a variety of processes in cellular metabolism including response to stress (Hara et al., 2007).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn2l T C 7: 126,098,350 (GRCm39) T181A probably damaging Het
Caskin1 T C 17: 24,718,323 (GRCm39) probably null Het
Cass4 A C 2: 172,271,643 (GRCm39) probably benign Het
Cdh26 A T 2: 178,123,417 (GRCm39) Y672F possibly damaging Het
Cep290 T A 10: 100,376,195 (GRCm39) probably benign Het
Cntnap2 T C 6: 47,169,972 (GRCm39) L1146P probably benign Het
Cntnap5b T G 1: 100,091,948 (GRCm39) C230G probably damaging Het
Ctnnd1 C T 2: 84,452,354 (GRCm39) probably null Het
Cux1 A G 5: 136,355,650 (GRCm39) I324T probably damaging Het
Dnajb4 T C 3: 151,899,118 (GRCm39) N36S probably damaging Het
Fancc T A 13: 63,488,270 (GRCm39) T237S possibly damaging Het
Fip1l1 A G 5: 74,747,726 (GRCm39) probably benign Het
Hemgn G T 4: 46,396,171 (GRCm39) T355K possibly damaging Het
Hivep1 T A 13: 42,321,092 (GRCm39) L42* probably null Het
Hps3 A G 3: 20,079,956 (GRCm39) W234R probably benign Het
Kit A T 5: 75,801,471 (GRCm39) N586I probably damaging Het
Mettl14 T A 3: 123,165,012 (GRCm39) K109N probably damaging Het
Mmab A T 5: 114,571,378 (GRCm39) M166K probably benign Het
Nostrin C T 2: 69,015,899 (GRCm39) probably benign Het
Pgap1 G T 1: 54,531,180 (GRCm39) probably benign Het
Plpp5 A T 8: 26,210,585 (GRCm39) I59F probably damaging Het
Prrc2b T C 2: 32,089,109 (GRCm39) probably benign Het
Scn4a A T 11: 106,218,944 (GRCm39) V958D probably benign Het
Serpinb3b T A 1: 107,083,579 (GRCm39) N200I probably damaging Het
Slc22a15 T A 3: 101,768,136 (GRCm39) Q512L probably benign Het
Tmf1 A T 6: 97,150,277 (GRCm39) Y477N possibly damaging Het
Trim10 T A 17: 37,182,584 (GRCm39) L150H probably damaging Het
Ttc41 A G 10: 86,572,797 (GRCm39) E723G possibly damaging Het
Usp25 A G 16: 76,859,293 (GRCm39) S264G probably damaging Het
Vopp1 A G 6: 57,731,465 (GRCm39) probably benign Het
Wapl G T 14: 34,414,701 (GRCm39) probably benign Het
Wbp1 A G 6: 83,097,022 (GRCm39) F93S probably damaging Het
Wt1 G T 2: 104,997,302 (GRCm39) R413L probably damaging Het
Zfp345 C T 2: 150,314,538 (GRCm39) G333D possibly damaging Het
Zmynd11 C A 13: 9,770,808 (GRCm39) probably null Het
Other mutations in Naprt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Naprt APN 15 75,765,164 (GRCm39) missense probably damaging 1.00
IGL01510:Naprt APN 15 75,762,837 (GRCm39) utr 3 prime probably benign
IGL01834:Naprt APN 15 75,765,648 (GRCm39) missense probably damaging 1.00
IGL02002:Naprt APN 15 75,763,221 (GRCm39) missense probably damaging 0.98
IGL02948:Naprt APN 15 75,764,206 (GRCm39) missense probably damaging 0.99
R0440:Naprt UTSW 15 75,762,918 (GRCm39) splice site probably benign
R0523:Naprt UTSW 15 75,764,314 (GRCm39) missense probably damaging 1.00
R0681:Naprt UTSW 15 75,765,481 (GRCm39) missense probably damaging 1.00
R2114:Naprt UTSW 15 75,763,637 (GRCm39) missense probably damaging 1.00
R4424:Naprt UTSW 15 75,764,605 (GRCm39) splice site probably null
R5495:Naprt UTSW 15 75,765,696 (GRCm39) splice site probably null
R5886:Naprt UTSW 15 75,763,324 (GRCm39) splice site probably null
R6166:Naprt UTSW 15 75,763,326 (GRCm39) missense possibly damaging 0.94
R6282:Naprt UTSW 15 75,763,828 (GRCm39) missense probably benign 0.00
R7167:Naprt UTSW 15 75,764,461 (GRCm39) missense probably damaging 1.00
R7472:Naprt UTSW 15 75,763,607 (GRCm39) splice site probably null
R8886:Naprt UTSW 15 75,765,433 (GRCm39) missense probably damaging 1.00
R9397:Naprt UTSW 15 75,763,859 (GRCm39) missense probably null 0.93
R9668:Naprt UTSW 15 75,765,281 (GRCm39) missense possibly damaging 0.79
X0018:Naprt UTSW 15 75,764,206 (GRCm39) missense probably damaging 0.99
Posted On 2012-12-06