Incidental Mutation 'R5081:Nnt'
ID 387147
Institutional Source Beutler Lab
Gene Symbol Nnt
Ensembl Gene ENSMUSG00000025453
Gene Name nicotinamide nucleotide transhydrogenase
Synonyms 4930423F13Rik
MMRRC Submission 042670-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.218) question?
Stock # R5081 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 119472063-119545793 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119502936 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 489 (N489S)
Ref Sequence ENSEMBL: ENSMUSP00000070564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069902] [ENSMUST00000099149] [ENSMUST00000109204] [ENSMUST00000223268]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000069902
AA Change: N489S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000070564
Gene: ENSMUSG00000025453
AA Change: N489S

DomainStartEndE-ValueType
AlaDh_PNT_N 60 199 3.35e-62 SMART
AlaDh_PNT_C 208 377 5.76e-43 SMART
transmembrane domain 409 431 N/A INTRINSIC
transmembrane domain 451 473 N/A INTRINSIC
transmembrane domain 486 508 N/A INTRINSIC
PDB:1U31|B 515 721 1e-145 PDB
SCOP:d1d4oa_ 542 718 1e-103 SMART
Predicted Effect unknown
Transcript: ENSMUST00000099149
AA Change: N603S
SMART Domains Protein: ENSMUSP00000096753
Gene: ENSMUSG00000025453
AA Change: N603S

DomainStartEndE-ValueType
AlaDh_PNT_N 60 199 3.35e-62 SMART
AlaDh_PNT_C 208 375 1.27e-39 SMART
transmembrane domain 395 412 N/A INTRINSIC
Blast:AlaDh_PNT_C 436 491 3e-28 BLAST
transmembrane domain 523 545 N/A INTRINSIC
transmembrane domain 565 587 N/A INTRINSIC
transmembrane domain 600 622 N/A INTRINSIC
PDB:1U31|B 629 835 1e-143 PDB
SCOP:d1d4oa_ 656 832 1e-102 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109204
AA Change: N603S

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000104827
Gene: ENSMUSG00000025453
AA Change: N603S

DomainStartEndE-ValueType
AlaDh_PNT_N 60 199 3.35e-62 SMART
AlaDh_PNT_C 208 375 1.27e-39 SMART
transmembrane domain 395 412 N/A INTRINSIC
Blast:AlaDh_PNT_C 436 491 2e-28 BLAST
transmembrane domain 523 545 N/A INTRINSIC
transmembrane domain 565 587 N/A INTRINSIC
transmembrane domain 600 622 N/A INTRINSIC
PDB:1U31|B 629 709 9e-46 PDB
Predicted Effect unknown
Transcript: ENSMUST00000223268
AA Change: N603S
Meta Mutation Damage Score 0.1465 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 93% (65/70)
MGI Phenotype PHENOTYPE: Mutations in this gene cause impaired glucose tolerance and loss of both glucose-dependent insulin secretion and ATP production in isolated pancreatic islets. Also, beta cells from ENU-induced mutants show enhanced glucose utilization and production of reactive oxygen species in response to glucose. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
AI593442 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 9: 52,589,114 (GRCm39) probably benign Het
Aig1 A G 10: 13,677,644 (GRCm39) I116T probably benign Het
Alox12 A T 11: 70,146,140 (GRCm39) probably null Het
Ap3s1 T A 18: 46,887,497 (GRCm39) D43E probably benign Het
Arhgap35 A G 7: 16,299,059 (GRCm39) M2T possibly damaging Het
Asah2 T A 19: 31,991,708 (GRCm39) E451V probably benign Het
Ash1l T G 3: 88,892,024 (GRCm39) I1301S probably damaging Het
Ass1 G A 2: 31,378,665 (GRCm39) probably null Het
Ccpg1 A G 9: 72,906,360 (GRCm39) T39A possibly damaging Het
Cd101 T A 3: 100,911,021 (GRCm39) Y879F possibly damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdh23 T C 10: 60,272,586 (GRCm39) T530A possibly damaging Het
Cep68 G T 11: 20,188,477 (GRCm39) Q643K probably damaging Het
Ces1c A G 8: 93,854,197 (GRCm39) S113P probably damaging Het
Cnga4 T C 7: 105,056,232 (GRCm39) I278T probably benign Het
Col1a1 A G 11: 94,842,402 (GRCm39) D1440G unknown Het
Cspp1 A G 1: 10,117,691 (GRCm39) I48V possibly damaging Het
Ctsj T A 13: 61,151,664 (GRCm39) S85C possibly damaging Het
Cyp39a1 C A 17: 44,057,488 (GRCm39) D442E probably damaging Het
Dock3 A T 9: 106,868,292 (GRCm39) F664Y probably damaging Het
Gpcpd1 A T 2: 132,389,622 (GRCm39) H244Q probably benign Het
Gtf3a T A 5: 146,888,092 (GRCm39) V131E probably benign Het
Gtpbp3 A T 8: 71,943,026 (GRCm39) R147W probably damaging Het
H2-Oa A T 17: 34,313,344 (GRCm39) I132F probably damaging Het
Hsd17b8 G A 17: 34,246,552 (GRCm39) probably benign Het
Idi1 T A 13: 8,937,963 (GRCm39) C91* probably null Het
Itga11 A G 9: 62,662,478 (GRCm39) I484V probably benign Het
Kpna3 C T 14: 61,628,694 (GRCm39) S101N probably damaging Het
Larp4 G A 15: 99,870,898 (GRCm39) probably benign Het
Mink1 T C 11: 70,495,970 (GRCm39) L390P probably damaging Het
Morc1 T G 16: 48,322,715 (GRCm39) S337R probably benign Het
Myo10 A G 15: 25,786,026 (GRCm39) R1236G probably damaging Het
Nkx3-1 T C 14: 69,429,396 (GRCm39) I138T possibly damaging Het
Nrcam A T 12: 44,617,136 (GRCm39) I711F probably benign Het
Ntrk3 A G 7: 78,227,522 (GRCm39) S4P probably damaging Het
Obsl1 T C 1: 75,464,607 (GRCm39) T1605A possibly damaging Het
Or1j17 A G 2: 36,578,655 (GRCm39) I214V possibly damaging Het
Or7g32 A G 9: 19,408,557 (GRCm39) E171G probably benign Het
Pank1 T C 19: 34,856,316 (GRCm39) H54R probably benign Het
Pgm2l1 A G 7: 99,917,472 (GRCm39) I530V probably benign Het
Psmd2 A G 16: 20,480,405 (GRCm39) T709A probably benign Het
Qsox1 G T 1: 155,688,581 (GRCm39) probably benign Het
Rbm14 A G 19: 4,852,823 (GRCm39) S520P probably benign Het
Rbm15b G A 9: 106,762,120 (GRCm39) R683C probably benign Het
Rhbdd2 T A 5: 135,664,876 (GRCm39) V69D probably damaging Het
Sart1 T C 19: 5,438,576 (GRCm39) E27G possibly damaging Het
Scn4a G A 11: 106,239,553 (GRCm39) P153L probably damaging Het
Serpinb6d A T 13: 33,855,230 (GRCm39) R301S probably benign Het
Sf3a2 C A 10: 80,640,275 (GRCm39) probably benign Het
Syne1 T C 10: 4,997,767 (GRCm39) D400G probably benign Het
Tenm2 T C 11: 35,915,460 (GRCm39) S2025G possibly damaging Het
Ttc16 A T 2: 32,657,988 (GRCm39) D476E probably damaging Het
Ttc9c A T 19: 8,793,396 (GRCm39) C81* probably null Het
Ulk2 G A 11: 61,694,488 (GRCm39) P474L probably damaging Het
Vmn1r66 A G 7: 10,008,722 (GRCm39) C104R probably damaging Het
Vwa2 C T 19: 56,897,752 (GRCm39) H686Y probably damaging Het
Other mutations in Nnt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00225:Nnt APN 13 119,506,533 (GRCm39) missense probably damaging 1.00
IGL02021:Nnt APN 13 119,472,783 (GRCm39) utr 3 prime probably benign
IGL02792:Nnt APN 13 119,494,182 (GRCm39) missense probably damaging 1.00
IGL02804:Nnt APN 13 119,518,210 (GRCm39) critical splice donor site probably null
IGL03082:Nnt APN 13 119,533,404 (GRCm39) missense probably damaging 1.00
BB001:Nnt UTSW 13 119,523,181 (GRCm39) missense probably damaging 1.00
BB011:Nnt UTSW 13 119,523,181 (GRCm39) missense probably damaging 1.00
R0122:Nnt UTSW 13 119,505,133 (GRCm39) missense probably damaging 1.00
R0294:Nnt UTSW 13 119,474,953 (GRCm39) missense possibly damaging 0.79
R0294:Nnt UTSW 13 119,472,803 (GRCm39) missense probably benign 0.08
R0530:Nnt UTSW 13 119,531,257 (GRCm39) missense probably damaging 1.00
R0839:Nnt UTSW 13 119,531,192 (GRCm39) missense possibly damaging 0.86
R1590:Nnt UTSW 13 119,523,197 (GRCm39) missense possibly damaging 0.90
R1642:Nnt UTSW 13 119,541,086 (GRCm39) critical splice donor site probably null
R3772:Nnt UTSW 13 119,533,488 (GRCm39) missense probably damaging 0.99
R3835:Nnt UTSW 13 119,509,031 (GRCm39) missense probably damaging 1.00
R3921:Nnt UTSW 13 119,503,030 (GRCm39) missense probably damaging 1.00
R4106:Nnt UTSW 13 119,533,327 (GRCm39) missense probably benign 0.15
R4496:Nnt UTSW 13 119,518,301 (GRCm39) missense probably damaging 1.00
R4609:Nnt UTSW 13 119,494,072 (GRCm39) missense possibly damaging 0.80
R4897:Nnt UTSW 13 119,541,107 (GRCm39) nonsense probably null
R5461:Nnt UTSW 13 119,505,131 (GRCm39) missense possibly damaging 0.96
R5842:Nnt UTSW 13 119,531,283 (GRCm39) missense probably damaging 0.97
R6053:Nnt UTSW 13 119,494,045 (GRCm39) missense possibly damaging 0.90
R6137:Nnt UTSW 13 119,472,864 (GRCm39) missense possibly damaging 0.95
R7134:Nnt UTSW 13 119,531,198 (GRCm39) missense probably damaging 0.98
R7815:Nnt UTSW 13 119,494,111 (GRCm39) missense possibly damaging 0.80
R7831:Nnt UTSW 13 119,506,630 (GRCm39) missense possibly damaging 0.57
R7924:Nnt UTSW 13 119,523,181 (GRCm39) missense probably damaging 1.00
R8046:Nnt UTSW 13 119,511,286 (GRCm39) missense probably damaging 1.00
R8152:Nnt UTSW 13 119,511,212 (GRCm39) missense probably benign 0.23
R8356:Nnt UTSW 13 119,476,368 (GRCm39) missense probably damaging 1.00
R8461:Nnt UTSW 13 119,505,038 (GRCm39) missense unknown
R8839:Nnt UTSW 13 119,494,173 (GRCm39) missense unknown
R8860:Nnt UTSW 13 119,476,407 (GRCm39) missense
R8971:Nnt UTSW 13 119,502,967 (GRCm39) missense unknown
R9184:Nnt UTSW 13 119,518,270 (GRCm39) missense probably damaging 0.99
R9243:Nnt UTSW 13 119,494,060 (GRCm39) missense unknown
RF007:Nnt UTSW 13 119,533,393 (GRCm39) missense probably damaging 1.00
Z1088:Nnt UTSW 13 119,474,982 (GRCm39) missense probably damaging 1.00
Z1177:Nnt UTSW 13 119,491,277 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- CCTTGAAGTTGGATATCTTTAAGGCAG -3'
(R):5'- CCAAGATGTCAAACGTTAGAGG -3'

Sequencing Primer
(F):5'- TTAAGGCAGTCTTAGAAATTTCCTC -3'
(R):5'- CATCACCGTGCTAAACAG -3'
Posted On 2016-06-06