Incidental Mutation 'IGL00234:Nubp1'
ID 2114
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nubp1
Ensembl Gene ENSMUSG00000022503
Gene Name nucleotide binding protein 1
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00234
Quality Score
Status
Chromosome 16
Chromosomal Location 10229812-10242292 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 10240703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 280 (G280S)
Ref Sequence ENSEMBL: ENSMUSP00000023146 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023146] [ENSMUST00000051118] [ENSMUST00000128288] [ENSMUST00000140157]
AlphaFold Q9R060
Predicted Effect probably damaging
Transcript: ENSMUST00000023146
AA Change: G280S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023146
Gene: ENSMUSG00000022503
AA Change: G280S

DomainStartEndE-ValueType
AAA 54 210 6.23e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000051118
SMART Domains Protein: ENSMUSP00000052922
Gene: ENSMUSG00000050908

DomainStartEndE-ValueType
Pfam:DUF846 39 180 1.6e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128288
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129280
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135315
Predicted Effect probably benign
Transcript: ENSMUST00000140157
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141587
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142771
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156338
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153027
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NUBP1 is a member of the NUBP/MRP subfamily of ATP-binding proteins (Nakashima et al., 1999 [PubMed 10486206]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for an ENU induced mutation display neonatal lethality, respiratory failure, severe lung hypoplasia, impaired lung development, syndactyly and oligodactyly. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl4 T C 17: 34,000,242 (GRCm39) N42S probably damaging Het
Apoc4 A T 7: 19,412,665 (GRCm39) S27T probably benign Het
Atp13a3 T A 16: 30,170,097 (GRCm39) Q363L probably damaging Het
Cfap69 A G 5: 5,667,295 (GRCm39) Y417H probably benign Het
Cry1 A G 10: 84,982,698 (GRCm39) S243P probably benign Het
Epb41l2 A G 10: 25,377,734 (GRCm39) T116A probably damaging Het
Foxb1 A G 9: 69,667,480 (GRCm39) S17P probably damaging Het
Glb1l3 A T 9: 26,764,967 (GRCm39) L148H probably damaging Het
Hnrnpk T C 13: 58,543,111 (GRCm39) probably benign Het
Icam5 G A 9: 20,948,091 (GRCm39) probably null Het
Lats1 A G 10: 7,567,330 (GRCm39) I34V probably damaging Het
Lipc A T 9: 70,727,719 (GRCm39) Y43N possibly damaging Het
Maml3 A G 3: 51,598,125 (GRCm39) I207T probably benign Het
Nfatc2 A T 2: 168,346,810 (GRCm39) S761R probably damaging Het
Or4d2 T G 11: 87,784,191 (GRCm39) R186S possibly damaging Het
Pabpc4 A G 4: 123,180,497 (GRCm39) N73S probably damaging Het
Pcsk6 G A 7: 65,577,568 (GRCm39) C163Y probably damaging Het
Phf3 G A 1: 30,850,928 (GRCm39) T1142M probably damaging Het
Prune2 T A 19: 17,145,708 (GRCm39) probably null Het
Psmd7 A G 8: 108,312,342 (GRCm39) V85A probably damaging Het
Rc3h2 A G 2: 37,279,759 (GRCm39) V490A possibly damaging Het
Sh3tc1 A C 5: 35,868,301 (GRCm39) S388A probably damaging Het
Trank1 T C 9: 111,221,677 (GRCm39) F2805L probably damaging Het
Yars2 T C 16: 16,121,185 (GRCm39) L113P probably damaging Het
Zfp82 G A 7: 29,765,755 (GRCm39) S16L probably damaging Het
Other mutations in Nubp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0040:Nubp1 UTSW 16 10,238,981 (GRCm39) missense probably damaging 1.00
R0040:Nubp1 UTSW 16 10,238,981 (GRCm39) missense probably damaging 1.00
R0537:Nubp1 UTSW 16 10,240,678 (GRCm39) unclassified probably benign
R0811:Nubp1 UTSW 16 10,231,585 (GRCm39) missense probably benign 0.19
R0812:Nubp1 UTSW 16 10,231,585 (GRCm39) missense probably benign 0.19
R4984:Nubp1 UTSW 16 10,239,108 (GRCm39) missense probably damaging 1.00
R4997:Nubp1 UTSW 16 10,239,185 (GRCm39) missense probably benign 0.00
R5947:Nubp1 UTSW 16 10,238,050 (GRCm39) intron probably benign
R8087:Nubp1 UTSW 16 10,238,212 (GRCm39) critical splice donor site probably null
R8309:Nubp1 UTSW 16 10,239,486 (GRCm39) missense probably benign 0.07
R8964:Nubp1 UTSW 16 10,238,894 (GRCm39) missense probably benign 0.05
R9238:Nubp1 UTSW 16 10,231,604 (GRCm39) missense probably benign 0.00
Posted On 2011-12-09