Incidental Mutation 'R0839:Nnt'
ID 78127
Institutional Source Beutler Lab
Gene Symbol Nnt
Ensembl Gene ENSMUSG00000025453
Gene Name nicotinamide nucleotide transhydrogenase
Synonyms 4930423F13Rik
MMRRC Submission 039018-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.218) question?
Stock # R0839 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 119472063-119545793 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119531192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 185 (I185K)
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 possibly damaging
Transcript: ENSMUST00000069902
AA Change: I185K

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000070564
Gene: ENSMUSG00000025453
AA Change: I185K

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 possibly damaging
Transcript: ENSMUST00000099149
AA Change: I185K

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000096753
Gene: ENSMUSG00000025453
AA Change: I185K

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 possibly damaging
Transcript: ENSMUST00000109204
AA Change: I185K

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104827
Gene: ENSMUSG00000025453
AA Change: I185K

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 noncoding transcript
Transcript: ENSMUST00000133627
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144599
Predicted Effect possibly damaging
Transcript: ENSMUST00000223268
AA Change: I185K

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.1%
Validation Efficiency
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 G A 3: 121,920,527 (GRCm39) V1083M probably damaging Het
Aco2 A G 15: 81,791,736 (GRCm39) probably null Het
AI661453 A T 17: 47,747,752 (GRCm39) Q8L probably null Het
Ankrd42 T C 7: 92,261,980 (GRCm39) D295G possibly damaging Het
Ccdc73 A T 2: 104,821,442 (GRCm39) I464L probably benign Het
Cdc5l A C 17: 45,704,073 (GRCm39) M717R probably benign Het
Col4a1 G A 8: 11,271,015 (GRCm39) P809S probably damaging Het
Dctn1 T C 6: 83,167,459 (GRCm39) M358T possibly damaging Het
Dgkz A G 2: 91,765,456 (GRCm39) S799P probably benign Het
Dna2 T C 10: 62,805,561 (GRCm39) C933R probably damaging Het
Dock6 T C 9: 21,729,188 (GRCm39) N1275S probably benign Het
Ect2l A G 10: 18,017,652 (GRCm39) I659T probably benign Het
Ets1 T A 9: 32,645,357 (GRCm39) Y201* probably null Het
Gle1 T A 2: 29,848,462 (GRCm39) C679S probably benign Het
Gm10118 T G 10: 63,762,643 (GRCm39) probably benign Het
Guk1 G A 11: 59,075,921 (GRCm39) R146C probably damaging Het
H2-Q7 A G 17: 35,658,688 (GRCm39) S109G probably damaging Het
Igfn1 A G 1: 135,882,418 (GRCm39) V2809A probably damaging Het
Izumo1 T A 7: 45,276,536 (GRCm39) D366E probably benign Het
Kctd20 A T 17: 29,176,872 (GRCm39) M1L possibly damaging Het
Lct C T 1: 128,214,346 (GRCm39) A1809T probably benign Het
Manea T C 4: 26,327,983 (GRCm39) I353V probably damaging Het
Mybl2 T C 2: 162,917,688 (GRCm39) Y65H probably benign Het
Myh11 C T 16: 14,021,042 (GRCm39) E1744K probably damaging Het
Neb T C 2: 52,167,560 (GRCm39) D1922G probably damaging Het
Nepro C A 16: 44,556,382 (GRCm39) D513E probably benign Het
Npat A T 9: 53,456,480 (GRCm39) Q17L probably damaging Het
Nup155 A G 15: 8,175,071 (GRCm39) E956G possibly damaging Het
Or1e35 T A 11: 73,798,138 (GRCm39) Y60F probably damaging Het
Or1x6 A G 11: 50,939,254 (GRCm39) I107V probably benign Het
Or2a14 T A 6: 43,130,558 (GRCm39) F106L probably benign Het
Or4q3 A G 14: 50,583,545 (GRCm39) V118A probably damaging Het
Or8g18 A T 9: 39,149,146 (GRCm39) N191K possibly damaging Het
Or8g4 A T 9: 39,661,687 (GRCm39) I2L probably benign Het
Or9e1 G A 11: 58,732,478 (GRCm39) M179I probably benign Het
Pah T C 10: 87,357,924 (GRCm39) S16P probably damaging Het
Pcdh15 C A 10: 74,462,614 (GRCm39) P1365Q probably null Het
Pds5b G T 5: 150,688,427 (GRCm39) V640F probably benign Het
Pgam5 A T 5: 110,414,996 (GRCm39) H72Q probably benign Het
Plagl2 C A 2: 153,074,461 (GRCm39) A147S probably damaging Het
Ppfia4 A T 1: 134,256,545 (GRCm39) L113Q probably null Het
Ppp1r12a T C 10: 108,034,722 (GRCm39) V89A probably damaging Het
Ptprc A G 1: 138,028,870 (GRCm39) Y443H possibly damaging Het
Ralgapb T C 2: 158,315,203 (GRCm39) probably null Het
Rgsl1 A G 1: 153,677,980 (GRCm39) probably null Het
Rubcn A C 16: 32,647,713 (GRCm39) I681M probably damaging Het
Scaf11 A G 15: 96,321,434 (GRCm39) L169S probably damaging Het
Scgb1b27 A G 7: 33,721,276 (GRCm39) K55E probably benign Het
Sos1 A T 17: 80,741,159 (GRCm39) I542N probably damaging Het
Syf2 T A 4: 134,663,374 (GRCm39) V182D probably damaging Het
Tapbp T C 17: 34,144,717 (GRCm39) V271A probably benign Het
Tmem33 T A 5: 67,421,651 (GRCm39) L60Q probably damaging Het
Tmf1 A G 6: 97,153,284 (GRCm39) V263A probably damaging Het
Vps13c T C 9: 67,806,020 (GRCm39) V798A probably benign Het
Zfp384 C A 6: 125,013,631 (GRCm39) D550E probably benign 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
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
R5081:Nnt UTSW 13 119,502,936 (GRCm39) missense probably damaging 0.98
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'- TTCTTACGCAGACCCTCAGACAGC -3'
(R):5'- TGGGGAGACCAGGTTCACTGTAAAG -3'

Sequencing Primer
(F):5'- CTCAGACAGCTACTTTCTTTGATAGG -3'
(R):5'- TGTAGCTGTCACAGATGACC -3'
Posted On 2013-10-16