Incidental Mutation 'R5553:Nubpl'
ID 435234
Institutional Source Beutler Lab
Gene Symbol Nubpl
Ensembl Gene ENSMUSG00000035142
Gene Name nucleotide binding protein-like
Synonyms 2410170E07Rik
MMRRC Submission 043110-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5553 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 52144529-52357753 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 52228082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 169 (L169M)
Ref Sequence ENSEMBL: ENSMUSP00000044292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040090] [ENSMUST00000159567]
AlphaFold Q9CWD8
Predicted Effect possibly damaging
Transcript: ENSMUST00000040090
AA Change: L169M

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000044292
Gene: ENSMUSG00000035142
AA Change: L169M

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ParA 65 311 1.6e-101 PFAM
Pfam:AAA_31 68 131 2.6e-9 PFAM
Pfam:MipZ 68 217 2.8e-9 PFAM
Pfam:CbiA 70 241 9.9e-17 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000159567
AA Change: L117M
SMART Domains Protein: ENSMUSP00000125177
Gene: ENSMUSG00000035142
AA Change: L117M

DomainStartEndE-ValueType
PDB:2PH1|A 12 113 4e-9 PDB
SCOP:d1ihua2 31 122 3e-7 SMART
Blast:AAA 40 115 1e-23 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162111
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane. Mutations in this gene cause mitochondrial complex I deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T A 15: 60,792,690 (GRCm39) I86F probably damaging Het
Abca13 C T 11: 9,278,158 (GRCm39) L3113F probably damaging Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Ano8 T A 8: 71,937,641 (GRCm39) probably null Het
Arid1b A T 17: 5,364,152 (GRCm39) S1041C probably damaging Het
Bsn T A 9: 107,987,620 (GRCm39) probably benign Het
Cbr3 A G 16: 93,480,451 (GRCm39) E80G possibly damaging Het
Chd1 A G 17: 17,605,875 (GRCm39) E271G probably benign Het
Dock3 T A 9: 106,868,309 (GRCm39) K658N possibly damaging Het
Dot1l CCAGCCCCACCCTCAGCC CCAGCC 10: 80,619,462 (GRCm39) probably benign Het
Dppa1 T A 11: 46,503,861 (GRCm39) probably null Het
Fen1 T C 19: 10,177,787 (GRCm39) N219S probably benign Het
Fsip2 A G 2: 82,793,090 (GRCm39) T416A probably benign Het
Gm14393 A T 2: 174,903,639 (GRCm39) C89* probably null Het
Grin2c C T 11: 115,143,551 (GRCm39) M736I probably null Het
Heatr5b A T 17: 79,060,780 (GRCm39) probably null Het
Hspbap1 G T 16: 35,621,967 (GRCm39) W104L probably damaging Het
Igfn1 C T 1: 135,895,622 (GRCm39) G1648E probably damaging Het
Irf4 A G 13: 30,935,811 (GRCm39) Y122C probably damaging Het
Kremen2 A G 17: 23,960,776 (GRCm39) probably benign Het
Niban1 C T 1: 151,592,986 (GRCm39) T557M probably damaging Het
Nwd1 T C 8: 73,431,604 (GRCm39) S1200P possibly damaging Het
Or1j20 A G 2: 36,760,477 (GRCm39) I300V probably benign Het
Or5p61 A T 7: 107,758,478 (GRCm39) S201T probably benign Het
Parp14 G T 16: 35,677,306 (GRCm39) H887Q probably benign Het
Paxip1 G A 5: 27,980,637 (GRCm39) probably benign Het
Piwil1 T C 5: 128,822,565 (GRCm39) M392T probably benign Het
Plekhm3 T C 1: 64,961,045 (GRCm39) S404G possibly damaging Het
Prelid3a T C 18: 67,610,093 (GRCm39) L141P probably damaging Het
Ptprb T A 10: 116,186,090 (GRCm39) V1715E probably damaging Het
Rc3h2 G A 2: 37,288,323 (GRCm39) R420* probably null Het
Selenon C A 4: 134,268,228 (GRCm39) R435L probably damaging Het
Slc29a4 T C 5: 142,705,791 (GRCm39) L425P probably damaging Het
Slc30a9 T A 5: 67,502,947 (GRCm39) probably null Het
Slc9a5 T C 8: 106,083,672 (GRCm39) V404A probably damaging Het
Ssc5d A T 7: 4,939,289 (GRCm39) D575V probably damaging Het
Ttn A C 2: 76,721,940 (GRCm39) probably null Het
Vmn2r100 A G 17: 19,725,110 (GRCm39) Q13R possibly damaging Het
Wfikkn1 T A 17: 26,097,468 (GRCm39) L285F possibly damaging Het
Zcchc17 A G 4: 130,247,927 (GRCm39) probably null Het
Other mutations in Nubpl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01329:Nubpl APN 12 52,352,638 (GRCm39) missense probably damaging 0.96
IGL01415:Nubpl APN 12 52,317,853 (GRCm39) missense possibly damaging 0.91
IGL02538:Nubpl APN 12 52,357,477 (GRCm39) splice site probably benign
IGL02644:Nubpl APN 12 52,317,841 (GRCm39) missense probably damaging 0.99
R0060:Nubpl UTSW 12 52,357,470 (GRCm39) splice site probably benign
R0060:Nubpl UTSW 12 52,357,470 (GRCm39) splice site probably benign
R3851:Nubpl UTSW 12 52,190,810 (GRCm39) missense probably damaging 1.00
R4939:Nubpl UTSW 12 52,227,878 (GRCm39) missense probably damaging 0.98
R5691:Nubpl UTSW 12 52,152,059 (GRCm39) intron probably benign
R5886:Nubpl UTSW 12 52,228,092 (GRCm39) critical splice donor site probably null
R6654:Nubpl UTSW 12 52,357,516 (GRCm39) missense probably damaging 1.00
R6899:Nubpl UTSW 12 52,357,536 (GRCm39) missense probably benign
R7274:Nubpl UTSW 12 52,179,203 (GRCm39) intron probably benign
R7961:Nubpl UTSW 12 52,228,080 (GRCm39) nonsense probably null
R8903:Nubpl UTSW 12 52,144,676 (GRCm39) critical splice donor site probably null
R9634:Nubpl UTSW 12 52,349,494 (GRCm39) missense probably benign 0.26
Z1177:Nubpl UTSW 12 52,145,145 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- CCTAATGAGGCCTCTTTTGAATTATGG -3'
(R):5'- TTACACTAAGATGCAACAGGAAGAC -3'

Sequencing Primer
(F):5'- AGGCCTCTTTTGAATTATGGTATTGC -3'
(R):5'- CAGGAAGACTAAGTTGGTGTAATTTG -3'
Posted On 2016-10-24