Incidental Mutation 'R9634:Nubpl'
ID 725722
Institutional Source Beutler Lab
Gene Symbol Nubpl
Ensembl Gene ENSMUSG00000035142
Gene Name nucleotide binding protein-like
Synonyms 2410170E07Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9634 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 52144529-52357753 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52349494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 242 (F242L)
Ref Sequence ENSEMBL: ENSMUSP00000044292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040090] [ENSMUST00000159567]
AlphaFold Q9CWD8
Predicted Effect probably benign
Transcript: ENSMUST00000040090
AA Change: F242L

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000044292
Gene: ENSMUSG00000035142
AA Change: F242L

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 probably benign
Transcript: ENSMUST00000159567
SMART Domains Protein: ENSMUSP00000125177
Gene: ENSMUSG00000035142

DomainStartEndE-ValueType
PDB:2PH1|A 12 113 4e-9 PDB
SCOP:d1ihua2 31 122 3e-7 SMART
Blast:AAA 40 115 1e-23 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca C A 11: 84,184,816 (GRCm39) D1277E probably benign Het
Anapc7 T C 5: 122,560,689 (GRCm39) S17P probably damaging Het
Atad2b T C 12: 5,060,332 (GRCm39) F909S probably damaging Het
Ccnb1 G A 13: 100,920,112 (GRCm39) A133V probably benign Het
Chd7 A G 4: 8,832,499 (GRCm39) T1125A probably damaging Het
Cyc1 A G 15: 76,227,794 (GRCm39) T11A probably benign Het
Ddx59 G A 1: 136,347,214 (GRCm39) A291T probably damaging Het
Dgkg T A 16: 22,338,387 (GRCm39) probably null Het
Dock8 A G 19: 25,169,585 (GRCm39) D1952G probably damaging Het
Dpf3 A G 12: 83,378,635 (GRCm39) probably null Het
Evi5 T C 5: 107,964,663 (GRCm39) I340V probably benign Het
Extl3 A T 14: 65,314,919 (GRCm39) S88T probably damaging Het
Fktn A G 4: 53,761,230 (GRCm39) H410R probably benign Het
Fyb2 A T 4: 104,856,579 (GRCm39) K596* probably null Het
Gas2l3 C T 10: 89,249,943 (GRCm39) A392T probably benign Het
Gbp7 T A 3: 142,242,115 (GRCm39) V83E probably benign Het
Gja10 A G 4: 32,601,877 (GRCm39) V169A probably damaging Het
Gnao1 A G 8: 94,682,723 (GRCm39) H303R probably benign Het
Iars2 A G 1: 185,027,727 (GRCm39) *734R probably null Het
Il2ra C T 2: 11,685,227 (GRCm39) R188* probably null Het
Inpp5f A C 7: 128,278,515 (GRCm39) D435A possibly damaging Het
Ints3 T C 3: 90,318,606 (GRCm39) T210A Het
Itpkc A G 7: 26,913,880 (GRCm39) I527T probably benign Het
Kcnrg CACAACAA CACAA 14: 61,845,009 (GRCm39) probably benign Het
Loxl3 C T 6: 83,027,835 (GRCm39) T749I probably benign Het
Lrp1b C T 2: 41,135,951 (GRCm39) probably null Het
Ncapg2 T A 12: 116,379,077 (GRCm39) H190Q probably damaging Het
Nkain2 G A 10: 32,766,262 (GRCm39) P66L unknown Het
Or4f4-ps1 T C 2: 111,330,131 (GRCm39) V178A possibly damaging Het
Or4x11 T C 2: 89,867,907 (GRCm39) S215P probably damaging Het
Or8b51 A G 9: 38,568,869 (GRCm39) I273T probably benign Het
Paip2b T C 6: 83,787,023 (GRCm39) D71G probably damaging Het
Plch1 T C 3: 63,605,152 (GRCm39) E1584G probably damaging Het
Poglut2 T C 1: 44,152,196 (GRCm39) D271G probably damaging Het
Prkag2 A G 5: 25,074,238 (GRCm39) I489T possibly damaging Het
Ptpn2 C T 18: 67,808,789 (GRCm39) probably null Het
Rims3 G A 4: 120,748,517 (GRCm39) R246H possibly damaging Het
Sorl1 T G 9: 41,907,590 (GRCm39) T1466P probably benign Het
Tbl3 T C 17: 24,926,531 (GRCm39) E3G probably benign Het
Tex2 A G 11: 106,458,978 (GRCm39) S151P unknown Het
Tmem260 C A 14: 48,709,816 (GRCm39) A123E probably damaging Het
Trim45 T C 3: 100,839,306 (GRCm39) V736A unknown Het
Vps8 T C 16: 21,372,893 (GRCm39) L1033P probably damaging Het
Vwa1 G A 4: 155,857,336 (GRCm39) P154L probably damaging Het
Wwc2 GCC GCCC 8: 48,304,959 (GRCm39) probably null Het
Ythdc2 A G 18: 45,006,037 (GRCm39) T1177A probably benign Het
Zfp36l2 A G 17: 84,494,056 (GRCm39) Y194H probably damaging 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
R5553:Nubpl UTSW 12 52,228,082 (GRCm39) missense possibly damaging 0.90
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
Z1177:Nubpl UTSW 12 52,145,145 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- AGGCCAAGCATTCTAGTTCCC -3'
(R):5'- CTGTTACCTCCATTACCGGG -3'

Sequencing Primer
(F):5'- CACTAGCGTGTTAGTTCCATGAGATC -3'
(R):5'- ACCTCCATTACCGGGATTCACTG -3'
Posted On 2022-09-12