Incidental Mutation 'IGL00487:Nucb1'
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ID12796
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nucb1
Ensembl Gene ENSMUSG00000030824
Gene Namenucleobindin 1
SynonymsB230337F23Rik, Calnuc, MTEST82
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00487
Quality Score
Status
Chromosome7
Chromosomal Location45490458-45510406 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 45501651 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 102 (L102P)
Ref Sequence ENSEMBL: ENSMUSP00000147383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033096] [ENSMUST00000107758] [ENSMUST00000107759] [ENSMUST00000209436] [ENSMUST00000210813] [ENSMUST00000211343] [ENSMUST00000211682] [ENSMUST00000211765]
Predicted Effect probably damaging
Transcript: ENSMUST00000033096
AA Change: L102P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033096
Gene: ENSMUSG00000030824
AA Change: L102P

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:EF-hand_7 227 319 2.1e-9 PFAM
coiled coil region 340 407 N/A INTRINSIC
low complexity region 420 433 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107758
SMART Domains Protein: ENSMUSP00000103387
Gene: ENSMUSG00000023467

DomainStartEndE-ValueType
low complexity region 100 108 N/A INTRINSIC
Pfam:Tub 203 451 4.1e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107759
SMART Domains Protein: ENSMUSP00000103388
Gene: ENSMUSG00000023467

DomainStartEndE-ValueType
low complexity region 100 108 N/A INTRINSIC
Pfam:Tub 203 444 3.4e-117 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209436
AA Change: L102P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209509
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210394
Predicted Effect probably benign
Transcript: ENSMUST00000210449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210675
Predicted Effect probably benign
Transcript: ENSMUST00000210813
Predicted Effect probably damaging
Transcript: ENSMUST00000211343
AA Change: L66P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211413
Predicted Effect probably damaging
Transcript: ENSMUST00000211682
AA Change: L102P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000211765
AA Change: L102P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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 a small calcium-binding EF-hand protein family. The encoded protein is thought to have a key role in Golgi calcium homeostasis and Ca(2+)-regulated signal transduction events. [provided by RefSeq, Jun 2010]
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T A 11: 110,309,450 probably null Het
Dusp23 T C 1: 172,631,632 probably benign Het
Invs C T 4: 48,407,689 Q555* probably null Het
Mak16 T C 8: 31,166,750 N9D probably benign Het
Mrps7 T C 11: 115,604,858 I74T possibly damaging Het
Nlrp4a T G 7: 26,449,985 V339G possibly damaging Het
Pdp2 T C 8: 104,594,197 M226T probably benign Het
Pik3r2 T C 8: 70,770,429 D449G probably damaging Het
Rnf157 G A 11: 116,362,355 P76S probably benign Het
Senp6 C A 9: 80,113,838 Q267K probably damaging Het
Slc9a2 A G 1: 40,742,658 E349G probably damaging Het
Snx14 G T 9: 88,402,190 S475Y probably damaging Het
Vmn1r180 A T 7: 23,952,523 H37L probably benign Het
Wdr66 T G 5: 123,274,177 I84S probably damaging Het
Xrn1 A T 9: 96,038,949 H1371L probably benign Het
Other mutations in Nucb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02496:Nucb1 APN 7 45495043 splice site probably benign
G1citation:Nucb1 UTSW 7 45498865 missense probably damaging 1.00
R1509:Nucb1 UTSW 7 45495225 missense probably benign 0.06
R1663:Nucb1 UTSW 7 45498864 missense probably damaging 1.00
R3499:Nucb1 UTSW 7 45498876 missense probably benign 0.01
R4291:Nucb1 UTSW 7 45495280 missense probably damaging 1.00
R4983:Nucb1 UTSW 7 45498889 missense probably damaging 1.00
R5307:Nucb1 UTSW 7 45498418 missense probably damaging 0.98
R5739:Nucb1 UTSW 7 45501660 missense probably damaging 1.00
R6822:Nucb1 UTSW 7 45498865 missense probably damaging 1.00
R6874:Nucb1 UTSW 7 45503194 missense probably benign 0.13
R6927:Nucb1 UTSW 7 45498858 missense possibly damaging 0.58
R7424:Nucb1 UTSW 7 45498778 missense possibly damaging 0.68
R7514:Nucb1 UTSW 7 45501718 splice site probably null
Posted On2012-12-06