Incidental Mutation 'R0537:Nubp1'
ID 49522
Institutional Source Beutler Lab
Gene Symbol Nubp1
Ensembl Gene ENSMUSG00000022503
Gene Name nucleotide binding protein 1
Synonyms
MMRRC Submission 038729-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0537 (G1)
Quality Score 199
Status Validated
Chromosome 16
Chromosomal Location 10229812-10242292 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 10240678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023146] [ENSMUST00000051118] [ENSMUST00000128288] [ENSMUST00000140157]
AlphaFold Q9R060
Predicted Effect probably benign
Transcript: ENSMUST00000023146
SMART Domains Protein: ENSMUSP00000023146
Gene: ENSMUSG00000022503

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: ENSMUST00000143617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142771
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156338
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153027
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 100% (53/53)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik A T 14: 35,818,657 (GRCm39) K218N probably benign Het
Acot11 T C 4: 106,619,652 (GRCm39) E156G probably benign Het
Arhgef28 A T 13: 98,094,224 (GRCm39) N973K probably damaging Het
B4galt3 T C 1: 171,101,821 (GRCm39) probably benign Het
Bmpr1a T C 14: 34,165,769 (GRCm39) probably benign Het
Camkmt A T 17: 85,702,087 (GRCm39) I184F probably benign Het
Ccdc33 T C 9: 58,024,737 (GRCm39) Y163C probably damaging Het
Ccdc9 A G 7: 16,014,701 (GRCm39) probably benign Het
Dars2 A T 1: 160,888,318 (GRCm39) C201S possibly damaging Het
Dnajc1 A T 2: 18,312,767 (GRCm39) S194R possibly damaging Het
Dock8 A G 19: 25,148,941 (GRCm39) D1473G probably benign Het
Dpm2 T A 2: 32,462,961 (GRCm39) probably null Het
Dsg4 T C 18: 20,591,628 (GRCm39) S456P probably damaging Het
Gys1 T C 7: 45,089,425 (GRCm39) S195P probably damaging Het
Heatr6 G T 11: 83,670,290 (GRCm39) E948* probably null Het
Itgal G A 7: 126,910,445 (GRCm39) R518Q possibly damaging Het
Klhdc8b G C 9: 108,326,422 (GRCm39) R158G possibly damaging Het
Klhl41 G A 2: 69,500,554 (GRCm39) R5Q probably benign Het
Lrrtm4 A T 6: 79,999,103 (GRCm39) T172S probably benign Het
Lypd1 A G 1: 125,840,604 (GRCm39) probably benign Het
Mei1 T C 15: 81,975,562 (GRCm39) F121S possibly damaging Het
Mtor C T 4: 148,622,817 (GRCm39) R1966W probably damaging Het
Myh7 A G 14: 55,228,256 (GRCm39) F247L possibly damaging Het
Nebl G T 2: 17,409,026 (GRCm39) D392E possibly damaging Het
Notch2 C A 3: 98,024,057 (GRCm39) N840K possibly damaging Het
Or5w16 A T 2: 87,577,017 (GRCm39) Q159L probably benign Het
Or7g19 T C 9: 18,856,444 (GRCm39) S167P probably damaging Het
Pcdh17 T A 14: 84,684,897 (GRCm39) S455T probably damaging Het
Picalm C A 7: 89,779,876 (GRCm39) H32Q probably benign Het
Pold1 T C 7: 44,184,516 (GRCm39) E828G probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rala A T 13: 18,063,233 (GRCm39) N119K probably benign Het
Rasal2 A T 1: 156,975,362 (GRCm39) V1149E possibly damaging Het
Rd3 A G 1: 191,715,501 (GRCm39) Y92C probably damaging Het
Rps18-ps6 A T 13: 97,897,071 (GRCm39) F9Y probably benign Het
Sart1 A T 19: 5,431,752 (GRCm39) D635E probably damaging Het
Sec16b A G 1: 157,365,116 (GRCm39) T335A possibly damaging Het
Slc11a2 C T 15: 100,303,679 (GRCm39) G185R probably damaging Het
Slc2a12 G A 10: 22,540,967 (GRCm39) R274H probably damaging Het
Spag17 T C 3: 100,032,618 (GRCm39) V2276A probably damaging Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Tenm2 T C 11: 36,054,557 (GRCm39) D601G probably damaging Het
Tmem168 C A 6: 13,603,360 (GRCm39) C2F probably damaging Het
Tmem80 A G 7: 140,913,609 (GRCm39) Y13C probably damaging Het
Try4 T A 6: 41,281,296 (GRCm39) N79K probably benign Het
Vldlr C A 19: 27,225,318 (GRCm39) N798K probably damaging Het
Wdr41 A G 13: 95,131,813 (GRCm39) probably benign Het
Zfp30 A T 7: 29,492,160 (GRCm39) E138V probably damaging Het
Zfp366 A C 13: 99,365,786 (GRCm39) T316P probably damaging Het
Zfp563 A T 17: 33,323,659 (GRCm39) S85C possibly damaging Het
Znfx1 T C 2: 166,883,621 (GRCm39) H162R probably damaging Het
Other mutations in Nubp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Nubp1 APN 16 10,240,703 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TTTGCCGCAGCAAAGCAACATC -3'
(R):5'- ACCTGCCCCGTTTCTCAAACTAAG -3'

Sequencing Primer
(F):5'- CAAAGCAACATCATTGCTGAGG -3'
(R):5'- TAGTCTCAGAGTCTCCTGGACAG -3'
Posted On 2013-06-12