Incidental Mutation 'R6654:Nubpl'
ID 526567
Institutional Source Beutler Lab
Gene Symbol Nubpl
Ensembl Gene ENSMUSG00000035142
Gene Name nucleotide binding protein-like
Synonyms 2410170E07Rik
MMRRC Submission 044775-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6654 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 52144529-52357753 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 52357516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 310 (V310E)
Ref Sequence ENSEMBL: ENSMUSP00000044292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040090]
AlphaFold Q9CWD8
Predicted Effect probably damaging
Transcript: ENSMUST00000040090
AA Change: V310E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044292
Gene: ENSMUSG00000035142
AA Change: V310E

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 97% (35/36)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1b1 C T 6: 34,286,939 (GRCm39) V206M possibly damaging Het
Armc6 T C 8: 70,684,025 (GRCm39) E9G probably damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Ddc A T 11: 11,830,452 (GRCm39) I64N probably damaging Het
Exd1 T A 2: 119,355,198 (GRCm39) probably null Het
Gm4847 C A 1: 166,457,956 (GRCm39) G466C probably damaging Het
Gm5431 T C 11: 48,785,427 (GRCm39) D316G possibly damaging Het
Gsta4 T C 9: 78,116,381 (GRCm39) F197L probably damaging Het
Irs2 A G 8: 11,056,486 (GRCm39) Y649H probably damaging Het
Kif16b T C 2: 142,543,197 (GRCm39) probably benign Het
Krtap12-1 T C 10: 77,556,537 (GRCm39) probably benign Het
Ktn1 G A 14: 47,927,457 (GRCm39) S537N probably damaging Het
Med12l G T 3: 59,169,713 (GRCm39) G1626W probably damaging Het
Mfng T A 15: 78,643,539 (GRCm39) T223S probably damaging Het
Msh3 T C 13: 92,481,550 (GRCm39) T321A probably benign Het
Myo7b T C 18: 32,123,322 (GRCm39) I672V possibly damaging Het
Nbas C T 12: 13,533,875 (GRCm39) Q1837* probably null Het
Nlrc4 G A 17: 74,752,523 (GRCm39) A620V possibly damaging Het
Or4p21 T G 2: 88,277,016 (GRCm39) T89P possibly damaging Het
Or5aq6 A G 2: 86,923,394 (GRCm39) S116P probably benign Het
P2ry12 A G 3: 59,125,441 (GRCm39) L78P probably damaging Het
Pira1 A T 7: 3,738,928 (GRCm39) S560T probably benign Het
Pkd1l3 T G 8: 110,350,915 (GRCm39) S587A probably benign Het
Potefam1 T A 2: 111,002,229 (GRCm39) M154L unknown Het
Prkacb A G 3: 146,456,298 (GRCm39) V145A possibly damaging Het
Rpgrip1l T C 8: 91,946,833 (GRCm39) E1256G probably benign Het
Rsph4a A G 10: 33,788,988 (GRCm39) Q611R probably benign Het
Sorl1 T C 9: 41,891,941 (GRCm39) D1903G possibly damaging Het
Tmem39b A T 4: 129,580,619 (GRCm39) V291D probably damaging Het
Unc79 A C 12: 103,045,307 (GRCm39) K685Q probably damaging Het
Unc79 A T 12: 103,045,308 (GRCm39) K685I probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r112 G T 17: 22,822,450 (GRCm39) S376I possibly damaging Het
Zfp850 A T 7: 27,684,640 (GRCm39) C35* probably null Het
Zfp974 A G 7: 27,625,828 (GRCm39) V14A 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
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'- TGTACCATATACACAGCCTTATGCTC -3'
(R):5'- ATCATCATAGAGCAGCCAGC -3'

Sequencing Primer
(F):5'- CACTGTTCGTCTACACCCCAG -3'
(R):5'- AGGTTGTCAAATCAAATCTGAAAATG -3'
Posted On 2018-07-23