Incidental Mutation 'IGL02644:Nubpl'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nubpl
Ensembl Gene ENSMUSG00000035142
Gene Namenucleotide binding protein-like
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02644
Quality Score
Chromosomal Location52097737-52312744 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 52271058 bp
Amino Acid Change Aspartic acid to Glycine at position 178 (D178G)
Ref Sequence ENSEMBL: ENSMUSP00000044292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040090] [ENSMUST00000159567]
Predicted Effect probably damaging
Transcript: ENSMUST00000040090
AA Change: D178G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000044292
Gene: ENSMUSG00000035142
AA Change: D178G

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

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
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 A T 3: 151,492,370 Y89F probably benign Het
Agl A G 3: 116,786,597 Y406H probably damaging Het
Ankhd1 G A 18: 36,578,775 probably null Het
Ankmy1 T C 1: 92,885,054 D511G probably benign Het
Arid2 T C 15: 96,368,708 Y546H probably damaging Het
Asap1 G T 15: 64,111,062 P806T probably damaging Het
Aspa T A 11: 73,322,166 T117S probably damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Bspry A T 4: 62,496,328 H386L probably damaging Het
C1qc T C 4: 136,890,318 T156A possibly damaging Het
Copz2 A T 11: 96,853,431 probably benign Het
Cybb A G X: 9,467,156 V23A probably benign Het
D630003M21Rik T A 2: 158,216,810 D390V possibly damaging Het
Dpy19l2 G T 9: 24,658,592 P355Q probably damaging Het
Fam45a T A 19: 60,822,303 S43T possibly damaging Het
Gcn1l1 A T 5: 115,575,191 Q71L probably benign Het
Gm4788 A G 1: 139,781,167 M1T probably null Het
Gpd1l T C 9: 114,903,657 probably null Het
Hydin A G 8: 110,538,468 D2761G probably damaging Het
Ifi202b T A 1: 173,971,714 H256L probably benign Het
Igkv8-24 T C 6: 70,216,888 Y112C probably damaging Het
Lama3 G A 18: 12,525,853 R2022Q probably benign Het
Mroh4 T A 15: 74,610,375 R675S possibly damaging Het
Mtf1 T G 4: 124,820,235 C146G probably damaging Het
Olfr58 A C 9: 19,783,714 I194L probably benign Het
Pam16 A G 16: 4,616,833 S91P probably damaging Het
Pcdhac2 A G 18: 37,145,179 E404G probably benign Het
Pde7a C A 3: 19,256,867 probably benign Het
Perm1 G T 4: 156,218,586 G529V probably damaging Het
Pik3c2a T C 7: 116,372,814 T794A probably benign Het
Ppfibp1 A G 6: 147,022,440 Y722C probably damaging Het
Ppm1m A T 9: 106,196,883 I241N probably damaging Het
Psd T C 19: 46,323,395 Y282C probably damaging Het
Rpl27 T A 11: 101,445,491 probably benign Het
Scaf1 A G 7: 45,005,933 probably benign Het
Sec14l2 A T 11: 4,103,380 probably benign Het
Smchd1 T A 17: 71,360,021 probably benign Het
Sptb A T 12: 76,605,617 D1615E probably damaging Het
Stt3a A C 9: 36,752,353 C198G possibly damaging Het
Tas2r144 T C 6: 42,215,853 S176P possibly damaging Het
Tlr13 A G X: 106,156,897 D80G probably benign Het
Tmco4 A G 4: 139,010,609 probably benign Het
Tnpo2 T A 8: 85,044,480 C132S possibly damaging Het
Tubgcp3 T C 8: 12,648,733 D406G probably damaging Het
Vmn2r125 G A 4: 156,350,999 R224Q probably benign Het
Zfp524 C A 7: 5,017,480 D2E probably damaging Het
Other mutations in Nubpl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01329:Nubpl APN 12 52305855 missense probably damaging 0.96
IGL01415:Nubpl APN 12 52271070 missense possibly damaging 0.91
IGL02538:Nubpl APN 12 52310694 splice site probably benign
R0060:Nubpl UTSW 12 52310687 splice site probably benign
R0060:Nubpl UTSW 12 52310687 splice site probably benign
R3851:Nubpl UTSW 12 52144027 missense probably damaging 1.00
R4939:Nubpl UTSW 12 52181095 missense probably damaging 0.98
R5553:Nubpl UTSW 12 52181299 missense possibly damaging 0.90
R5691:Nubpl UTSW 12 52105276 intron probably benign
R5886:Nubpl UTSW 12 52181309 critical splice donor site probably null
R6654:Nubpl UTSW 12 52310733 missense probably damaging 1.00
R6899:Nubpl UTSW 12 52310753 missense probably benign
R7274:Nubpl UTSW 12 52132420 intron probably benign
Z1177:Nubpl UTSW 12 52098362 missense possibly damaging 0.85
Posted On2015-04-16