Incidental Mutation 'R6927:Nucb1'
ID 541154
Institutional Source Beutler Lab
Gene Symbol Nucb1
Ensembl Gene ENSMUSG00000030824
Gene Name nucleobindin 1
Synonyms Calnuc, B230337F23Rik, MTEST82
MMRRC Submission 045044-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6927 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 45142300-45159813 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45148282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 141 (R141H)
Ref Sequence ENSEMBL: ENSMUSP00000147756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033096] [ENSMUST00000107758] [ENSMUST00000107759] [ENSMUST00000209436] [ENSMUST00000210813] [ENSMUST00000211343] [ENSMUST00000211765] [ENSMUST00000211682]
AlphaFold Q02819
Predicted Effect probably benign
Transcript: ENSMUST00000033096
AA Change: R177H

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000033096
Gene: ENSMUSG00000030824
AA Change: R177H

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 benign
Transcript: ENSMUST00000209436
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000210813
Predicted Effect possibly damaging
Transcript: ENSMUST00000211343
AA Change: R141H

PolyPhen 2 Score 0.583 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000211765
AA Change: R177H

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000211682
AA Change: R177H

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
Meta Mutation Damage Score 0.0944 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.0%
  • 20x: 96.1%
Validation Efficiency 98% (57/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A T 17: 46,635,317 (GRCm39) W229R probably damaging Het
Adck2 T C 6: 39,560,998 (GRCm39) probably null Het
Ahi1 A T 10: 20,930,968 (GRCm39) N936I probably damaging Het
Ass1 T C 2: 31,404,813 (GRCm39) S365P probably damaging Het
Atp9b T C 18: 80,935,072 (GRCm39) K208E possibly damaging Het
Bag6 G A 17: 35,364,898 (GRCm39) probably null Het
Bptf A T 11: 106,945,421 (GRCm39) V2491E probably damaging Het
Cd300ld2 T A 11: 114,904,619 (GRCm39) R83W probably damaging Het
Chrnd T C 1: 87,126,434 (GRCm39) F396L probably damaging Het
Cyp3a13 G A 5: 137,893,546 (GRCm39) P439S probably damaging Het
Dnhd1 C A 7: 105,364,770 (GRCm39) H4279N probably damaging Het
Fam118a T C 15: 84,929,038 (GRCm39) probably null Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fasn T A 11: 120,699,115 (GRCm39) D2386V probably benign Het
Fat1 G A 8: 45,477,532 (GRCm39) V2170I probably benign Het
Fdps T C 3: 89,000,958 (GRCm39) R374G probably benign Het
Fhl5 T C 4: 25,213,681 (GRCm39) D85G probably benign Het
Flvcr1 T C 1: 190,757,861 (GRCm39) M144V possibly damaging Het
Gask1b T C 3: 79,848,769 (GRCm39) I505T probably damaging Het
Gpr31b A G 17: 13,270,765 (GRCm39) S135P probably damaging Het
Hey2 A T 10: 30,710,413 (GRCm39) D113E probably benign Het
Hoxc5 T A 15: 102,923,807 (GRCm39) I201N probably damaging Het
Ighv1-50 A T 12: 115,083,794 (GRCm39) W3R probably damaging Het
Impa1 A G 3: 10,380,348 (GRCm39) I208T probably benign Het
Iqcj T C 3: 67,954,624 (GRCm39) L43P possibly damaging Het
Itga10 T C 3: 96,564,030 (GRCm39) F895L probably damaging Het
Kdm4b T C 17: 56,706,435 (GRCm39) C850R probably damaging Het
Krt25 A T 11: 99,208,205 (GRCm39) I341N probably damaging Het
L3mbtl3 T A 10: 26,168,567 (GRCm39) R621* probably null Het
Lipm T C 19: 34,078,563 (GRCm39) probably benign Het
Macrod2 A T 2: 142,098,441 (GRCm39) D286V probably damaging Het
Mad2l2 T A 4: 148,225,411 (GRCm39) V27E possibly damaging Het
Map4k4 T A 1: 40,050,842 (GRCm39) H768Q probably benign Het
Mgat4d A G 8: 84,081,496 (GRCm39) N83S probably benign Het
Or2t46 A G 11: 58,472,491 (GRCm39) K274E possibly damaging Het
Pcdhga2 A C 18: 37,803,719 (GRCm39) D521A probably damaging Het
Pcnx1 T C 12: 81,964,586 (GRCm39) V251A probably benign Het
Pdf A T 8: 107,774,833 (GRCm39) M133K probably damaging Het
Piezo2 A G 18: 63,166,057 (GRCm39) F2058S probably damaging Het
Plekhb2 T A 1: 34,915,982 (GRCm39) probably null Het
Ppp2r3d G C 9: 101,052,547 (GRCm39) H221D probably damaging Het
Prl2c5 A T 13: 13,357,503 (GRCm39) probably null Het
Puf60 T A 15: 75,947,663 (GRCm39) M49L probably benign Het
Rdh16f1 T C 10: 127,624,561 (GRCm39) V133A probably benign Het
Robo2 T A 16: 73,778,946 (GRCm39) D389V probably damaging Het
Slc22a23 G T 13: 34,528,362 (GRCm39) A140D probably benign Het
Slc25a42 A G 8: 70,641,573 (GRCm39) L136P probably damaging Het
Slc36a3 T A 11: 55,020,519 (GRCm39) M284L probably damaging Het
Tas2r115 T A 6: 132,714,895 (GRCm39) I19F probably damaging Het
Tmc2 A G 2: 130,103,300 (GRCm39) H812R probably benign Het
Vmn2r26 A G 6: 124,016,057 (GRCm39) S174G possibly damaging Het
Vstm4 T A 14: 32,585,959 (GRCm39) probably null Het
Vwc2 C A 11: 11,104,250 (GRCm39) P261T probably damaging Het
Zfhx3 C G 8: 109,683,453 (GRCm39) H3631D unknown Het
Zfp335 A G 2: 164,735,640 (GRCm39) C1105R probably damaging Het
Zfp488 A G 14: 33,692,755 (GRCm39) L136P probably benign Het
Zzef1 G A 11: 72,803,983 (GRCm39) R2575H probably damaging Het
Other mutations in Nucb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00487:Nucb1 APN 7 45,151,075 (GRCm39) missense probably damaging 1.00
IGL02496:Nucb1 APN 7 45,144,467 (GRCm39) splice site probably benign
G1citation:Nucb1 UTSW 7 45,148,289 (GRCm39) missense probably damaging 1.00
R1509:Nucb1 UTSW 7 45,144,649 (GRCm39) missense probably benign 0.06
R1663:Nucb1 UTSW 7 45,148,288 (GRCm39) missense probably damaging 1.00
R3499:Nucb1 UTSW 7 45,148,300 (GRCm39) missense probably benign 0.01
R4291:Nucb1 UTSW 7 45,144,704 (GRCm39) missense probably damaging 1.00
R4983:Nucb1 UTSW 7 45,148,313 (GRCm39) missense probably damaging 1.00
R5307:Nucb1 UTSW 7 45,147,842 (GRCm39) missense probably damaging 0.98
R5739:Nucb1 UTSW 7 45,151,084 (GRCm39) missense probably damaging 1.00
R6822:Nucb1 UTSW 7 45,148,289 (GRCm39) missense probably damaging 1.00
R6874:Nucb1 UTSW 7 45,152,618 (GRCm39) missense probably benign 0.13
R7424:Nucb1 UTSW 7 45,148,202 (GRCm39) missense possibly damaging 0.68
R7514:Nucb1 UTSW 7 45,151,142 (GRCm39) splice site probably null
R9617:Nucb1 UTSW 7 45,148,159 (GRCm39) missense probably benign 0.06
R9653:Nucb1 UTSW 7 45,144,202 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTGCCTTAAGGACTCTTGGG -3'
(R):5'- AAGCCGCTACTTTGGGAAAG -3'

Sequencing Primer
(F):5'- GCACTCATTTTCTGCTTAGGAG -3'
(R):5'- GGGAAAGCACCCCAGGG -3'
Posted On 2018-11-28