Incidental Mutation 'R5461:Nnt'
ID 433044
Institutional Source Beutler Lab
Gene Symbol Nnt
Ensembl Gene ENSMUSG00000025453
Gene Name nicotinamide nucleotide transhydrogenase
Synonyms 4930423F13Rik
MMRRC Submission 043023-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.218) question?
Stock # R5461 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 119472063-119545793 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 119505131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 414 (A414T)
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: A414T

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000070564
Gene: ENSMUSG00000025453
AA Change: A414T

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: A528T
SMART Domains Protein: ENSMUSP00000096753
Gene: ENSMUSG00000025453
AA Change: A528T

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 benign
Transcript: ENSMUST00000109204
AA Change: A528T

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104827
Gene: ENSMUSG00000025453
AA Change: A528T

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: A528T
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (57/57)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,884,643 (GRCm39) I405K possibly damaging Het
4930562C15Rik G A 16: 4,682,227 (GRCm39) G180E probably damaging Het
Adgrg6 A T 10: 14,296,248 (GRCm39) W1079R probably damaging Het
Arsa T C 15: 89,357,478 (GRCm39) H495R probably benign Het
Bptf T C 11: 106,952,590 (GRCm39) T2088A probably damaging Het
Brsk2 T C 7: 141,541,643 (GRCm39) L152P probably damaging Het
C8a T C 4: 104,673,042 (GRCm39) probably benign Het
Ccdc177 G A 12: 80,804,816 (GRCm39) A486V unknown Het
Cpa2 A G 6: 30,544,180 (GRCm39) T38A probably benign Het
Crim1 T G 17: 78,545,236 (GRCm39) C133G probably damaging Het
Dnah2 C T 11: 69,364,177 (GRCm39) probably null Het
Ep400 G A 5: 110,824,550 (GRCm39) Q2392* probably null Het
Exoc2 C T 13: 31,109,738 (GRCm39) S210N possibly damaging Het
Gm7003 A G 12: 113,766,847 (GRCm39) probably benign Het
Hydin A G 8: 111,245,863 (GRCm39) K2192R probably damaging Het
Ica1l T C 1: 60,053,010 (GRCm39) D176G probably damaging Het
Ints10 G A 8: 69,246,693 (GRCm39) E8K possibly damaging Het
Itgb8 T C 12: 119,131,740 (GRCm39) E635G probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Kng1 A G 16: 22,897,887 (GRCm39) H429R probably benign Het
Mcm3 T C 1: 20,884,661 (GRCm39) I281V probably benign Het
Msi1 T C 5: 115,579,450 (GRCm39) S200P possibly damaging Het
Nat3 T C 8: 68,000,514 (GRCm39) L131P probably damaging Het
Ncor2 T C 5: 125,104,177 (GRCm39) E1752G probably damaging Het
Nrp2 C T 1: 62,786,370 (GRCm39) Q292* probably null Het
Or51ah3 T A 7: 103,209,780 (GRCm39) L32Q probably damaging Het
Or52k2 G A 7: 102,253,615 (GRCm39) G18D probably damaging Het
Otop1 A T 5: 38,457,059 (GRCm39) I273F probably damaging Het
Phactr3 T A 2: 177,920,694 (GRCm39) N177K probably benign Het
Pik3c2b C T 1: 133,027,440 (GRCm39) T1313I possibly damaging Het
Pikfyve C A 1: 65,274,192 (GRCm39) D677E probably damaging Het
Poc1a T C 9: 106,165,209 (GRCm39) F157L probably damaging Het
Prodh2 G T 7: 30,193,948 (GRCm39) R185L possibly damaging Het
Rcc1 T C 4: 132,061,497 (GRCm39) I350M probably benign Het
Rhd G A 4: 134,611,928 (GRCm39) A249T probably damaging Het
Rtf2 A G 2: 172,287,252 (GRCm39) Y57C probably damaging Het
Shmt1 A G 11: 60,685,725 (GRCm39) S284P possibly damaging Het
Shpk T C 11: 73,090,361 (GRCm39) V6A probably benign Het
Slc4a5 T C 6: 83,262,836 (GRCm39) V661A probably benign Het
Spesp1 A T 9: 62,180,014 (GRCm39) L298Q probably damaging Het
Tas1r2 C A 4: 139,387,320 (GRCm39) Q231K probably benign Het
Tcp11l1 T C 2: 104,518,856 (GRCm39) Y280C probably benign Het
Tnip1 T C 11: 54,801,625 (GRCm39) probably benign Het
Topbp1 T A 9: 103,192,395 (GRCm39) D295E probably benign Het
Unc79 C T 12: 103,078,397 (GRCm39) L1521F probably damaging Het
Usp10 T C 8: 120,683,406 (GRCm39) I759T probably benign Het
Vmn1r30 A T 6: 58,412,759 (GRCm39) C24* probably null Het
Vmn2r104 T A 17: 20,250,343 (GRCm39) I643F probably damaging Het
Wwc1 T A 11: 35,758,199 (GRCm39) T716S probably damaging Het
Zfp949 C T 9: 88,451,537 (GRCm39) T369M probably benign Het
Zhx3 A G 2: 160,621,938 (GRCm39) V743A 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
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
R5081:Nnt UTSW 13 119,502,936 (GRCm39) missense probably damaging 0.98
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'- AGACAAGTTTCTTCCCTTGGGG -3'
(R):5'- GGCGCTATACAAAGATATCTGAAG -3'

Sequencing Primer
(F):5'- GCATGACCAGATTGAAGTCTAAC -3'
(R):5'- CAGCTTAGGCTCTGACTA -3'
Posted On 2016-10-06