Incidental Mutation 'IGL00423:Nucb2'
ID27733
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nucb2
Ensembl Gene ENSMUSG00000030659
Gene Namenucleobindin 2
SynonymsNEFA, Calnuc, nesfatin-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.193) question?
Stock #IGL00423
Quality Score
Status
Chromosome7
Chromosomal Location116504369-116540584 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 116521831 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032895] [ENSMUST00000183175]
Predicted Effect probably benign
Transcript: ENSMUST00000032895
SMART Domains Protein: ENSMUSP00000032895
Gene: ENSMUSG00000030659

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 196 213 N/A INTRINSIC
EFh 245 273 5.63e-1 SMART
EFh 297 325 6.56e0 SMART
coiled coil region 341 403 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183175
SMART Domains Protein: ENSMUSP00000138741
Gene: ENSMUSG00000030659

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 196 213 N/A INTRINSIC
EFh 245 273 5.63e-1 SMART
EFh 297 325 6.56e0 SMART
coiled coil region 341 403 N/A INTRINSIC
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 protein with a suggested role in calcium level maintenance, eating regulation in the hypothalamus, and release of tumor necrosis factor from vascular endothelial cells. This protein binds calcium and has EF-folding domains. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous mutation of this gene results in decreased heart rate and increased serum alkaline phosphatase levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930452B06Rik G A 14: 8,473,370 P600S possibly damaging Het
Acan A G 7: 79,097,824 E781G probably benign Het
Acp7 T C 7: 28,614,697 T358A possibly damaging Het
Adamtsl2 C A 2: 27,085,088 T199K probably damaging Het
Ap4e1 T A 2: 127,028,289 S179T probably damaging Het
BC048671 A G 6: 90,303,218 T39A probably benign Het
Cnr1 G A 4: 33,944,116 S168N probably damaging Het
Cp T C 3: 19,985,662 V881A possibly damaging Het
Cyp4x1 T C 4: 115,121,948 T151A probably benign Het
Drd2 T C 9: 49,395,758 I48T probably damaging Het
Gemin5 A T 11: 58,163,817 I253N probably damaging Het
Herc3 T A 6: 58,868,715 I407K probably damaging Het
Ighmbp2 G T 19: 3,268,704 H457Q probably benign Het
Mboat1 A G 13: 30,195,793 probably benign Het
Myh2 T C 11: 67,197,345 V1929A probably benign Het
Pcsk5 T C 19: 17,642,559 N383S probably benign Het
Pde1a A G 2: 79,865,670 L443P probably damaging Het
Prph2 A T 17: 46,919,778 N199I probably damaging Het
Rab27b A G 18: 69,996,067 probably null Het
Ranbp3 G A 17: 56,709,238 D336N probably damaging Het
Rangap1 T C 15: 81,721,993 D49G probably benign Het
Rasa3 G A 8: 13,595,410 probably benign Het
Serpina6 T A 12: 103,651,903 N217I probably damaging Het
Sorbs2 A G 8: 45,799,706 probably null Het
Spire1 A G 18: 67,529,015 V116A probably damaging Het
Tdrd1 T C 19: 56,851,464 V652A possibly damaging Het
Tmprss11g T C 5: 86,492,191 E193G probably benign Het
Zfp451 A T 1: 33,777,579 V213D probably benign Het
Other mutations in Nucb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02347:Nucb2 APN 7 116535878 missense probably benign 0.00
R0017:Nucb2 UTSW 7 116533151 missense probably benign 0.01
R0017:Nucb2 UTSW 7 116533151 missense probably benign 0.01
R0207:Nucb2 UTSW 7 116536010 missense probably damaging 1.00
R0690:Nucb2 UTSW 7 116535851 splice site probably benign
R1526:Nucb2 UTSW 7 116524407 critical splice donor site probably null
R3964:Nucb2 UTSW 7 116528875 missense probably damaging 1.00
R3966:Nucb2 UTSW 7 116528875 missense probably damaging 1.00
R4154:Nucb2 UTSW 7 116527667 missense probably benign 0.00
R4619:Nucb2 UTSW 7 116527824 critical splice donor site probably null
R4705:Nucb2 UTSW 7 116540027 critical splice donor site probably null
R4913:Nucb2 UTSW 7 116524305 nonsense probably null
R4934:Nucb2 UTSW 7 116539964 missense possibly damaging 0.93
R5210:Nucb2 UTSW 7 116528987 missense probably damaging 1.00
R7227:Nucb2 UTSW 7 116526076 missense probably damaging 1.00
R7776:Nucb2 UTSW 7 116529013 missense probably damaging 1.00
R7899:Nucb2 UTSW 7 116521970 missense probably benign 0.01
R7982:Nucb2 UTSW 7 116521970 missense probably benign 0.01
R8200:Nucb2 UTSW 7 116533163 critical splice donor site probably null
Posted On2013-04-17