Incidental Mutation 'R3921:Nnt'
ID 315748
Institutional Source Beutler Lab
Gene Symbol Nnt
Ensembl Gene ENSMUSG00000025453
Gene Name nicotinamide nucleotide transhydrogenase
Synonyms 4930423F13Rik
MMRRC Submission 040818-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.218) question?
Stock # R3921 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 119472063-119545793 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 119503030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 572 (T572S)
Ref Sequence ENSEMBL: ENSMUSP00000104827 (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: T458S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070564
Gene: ENSMUSG00000025453
AA Change: T458S

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: T572S
SMART Domains Protein: ENSMUSP00000096753
Gene: ENSMUSG00000025453
AA Change: T572S

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: T572S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104827
Gene: ENSMUSG00000025453
AA Change: T572S

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: T572S
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 T A 3: 59,659,498 (GRCm39) L317Q probably damaging Het
Aebp2 C T 6: 140,579,461 (GRCm39) R11C probably damaging Het
Anxa8 T C 14: 33,816,403 (GRCm39) F201L probably damaging Het
Armh4 A G 14: 50,011,659 (GRCm39) F16S probably benign Het
Bcl7a A G 5: 123,509,136 (GRCm39) N206S probably benign Het
Birc6 A G 17: 74,934,014 (GRCm39) N2542D probably damaging Het
Cubn A G 2: 13,331,488 (GRCm39) Y2562H probably damaging Het
Dnah12 C G 14: 26,493,008 (GRCm39) D1256E probably damaging Het
Dnajb14 A T 3: 137,610,613 (GRCm39) R280S probably damaging Het
Dop1a A T 9: 86,402,324 (GRCm39) I1173F probably benign Het
Fam228a T C 12: 4,781,506 (GRCm39) T118A probably benign Het
Gata2 TGCCATGGGCTAGGCAAGCC TGCC 6: 88,182,464 (GRCm39) probably null Het
Hif3a T C 7: 16,771,097 (GRCm39) D618G possibly damaging Het
Ighv1-43 C A 12: 114,909,772 (GRCm39) G50V probably benign Het
Lrrc37a G T 11: 103,392,296 (GRCm39) T1043N probably benign Het
Masp2 T A 4: 148,690,188 (GRCm39) D232E possibly damaging Het
Ms4a4a A C 19: 11,356,172 (GRCm39) Q19P probably benign Het
Nckipsd A G 9: 108,691,275 (GRCm39) E399G possibly damaging Het
Olig3 A G 10: 19,232,423 (GRCm39) D16G probably damaging Het
Or4a74 C T 2: 89,439,853 (GRCm39) V198I probably benign Het
Or5p57 T A 7: 107,665,108 (GRCm39) D299V possibly damaging Het
Polr2b T C 5: 77,474,500 (GRCm39) Y446H probably damaging Het
Prtg T C 9: 72,755,629 (GRCm39) V277A probably damaging Het
Rnf31 T C 14: 55,838,599 (GRCm39) Y857H probably damaging Het
Serac1 T C 17: 6,117,067 (GRCm39) D163G probably damaging Het
Slc22a22 C A 15: 57,119,940 (GRCm39) V197F probably benign Het
Slc2a10 C T 2: 165,357,521 (GRCm39) P394S probably benign Het
Spg7 G C 8: 123,814,112 (GRCm39) R457P probably damaging Het
St7 A G 6: 17,846,244 (GRCm39) N120D probably benign Het
Sult2a6 C T 7: 13,988,668 (GRCm39) V31M possibly damaging Het
Taf3 T C 2: 10,053,109 (GRCm39) T35A probably benign Het
Tmem131l A G 3: 83,847,908 (GRCm39) I319T possibly damaging Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Ttc23l T TTGGATG 15: 10,537,649 (GRCm39) probably benign Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Vmn2r9 T G 5: 108,996,921 (GRCm39) Y116S probably benign Het
Vstm2l A G 2: 157,777,283 (GRCm39) T54A probably benign Het
Xrn1 T A 9: 95,851,337 (GRCm39) M153K probably benign Het
Zfp106 G A 2: 120,364,097 (GRCm39) P770L 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
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'- GCACGTGCATTTCTTACCACAC -3'
(R):5'- ACTTGTCTGGCATCTGACCC -3'

Sequencing Primer
(F):5'- CACATGATGTACGACAGGATTGCAC -3'
(R):5'- CCAAGATGTCAAACGTTAGAG -3'
Posted On 2015-05-15