Incidental Mutation 'R4291:Nucb1'
ID 323064
Institutional Source Beutler Lab
Gene Symbol Nucb1
Ensembl Gene ENSMUSG00000030824
Gene Name nucleobindin 1
Synonyms Calnuc, B230337F23Rik, MTEST82
MMRRC Submission 041081-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4291 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 45142300-45159813 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45144704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 283 (D283V)
Ref Sequence ENSEMBL: ENSMUSP00000147383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033096] [ENSMUST00000107758] [ENSMUST00000107759] [ENSMUST00000211765] [ENSMUST00000211343] [ENSMUST00000211682] [ENSMUST00000210813]
AlphaFold Q02819
Predicted Effect possibly damaging
Transcript: ENSMUST00000033096
AA Change: D283V

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000033096
Gene: ENSMUSG00000030824
AA Change: D283V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210394
Predicted Effect unknown
Transcript: ENSMUST00000210449
AA Change: D149V
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210675
Predicted Effect probably damaging
Transcript: ENSMUST00000211765
AA Change: D283V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000211343
Predicted Effect probably benign
Transcript: ENSMUST00000211682
Predicted Effect probably benign
Transcript: ENSMUST00000210813
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211413
Meta Mutation Damage Score 0.8019 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (62/62)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T C 3: 36,120,337 (GRCm39) F27S probably benign Het
AK157302 T A 13: 21,679,715 (GRCm39) D80E probably damaging Het
Amz2 T C 11: 109,324,881 (GRCm39) probably null Het
Angel1 A G 12: 86,767,057 (GRCm39) Y440H probably damaging Het
Ankrd34c T A 9: 89,611,817 (GRCm39) K175* probably null Het
Arid1b C A 17: 5,090,938 (GRCm39) S546R probably damaging Het
Atf6b T A 17: 34,871,648 (GRCm39) M428K probably benign Het
Brpf3 G A 17: 29,042,949 (GRCm39) V997M probably benign Het
Cckar A G 5: 53,863,839 (GRCm39) S41P probably benign Het
Cd96 T A 16: 45,892,112 (GRCm39) Q292L probably damaging Het
Cdh18 C A 15: 22,714,637 (GRCm39) probably benign Het
Cfb T G 17: 35,080,114 (GRCm39) D122A possibly damaging Het
Copa G T 1: 171,919,964 (GRCm39) probably benign Het
Ctnna2 T A 6: 76,859,728 (GRCm39) K854N probably damaging Het
Cwh43 G A 5: 73,569,275 (GRCm39) V106M probably benign Het
Dact2 C T 17: 14,416,833 (GRCm39) E456K probably benign Het
Dnah8 T C 17: 30,967,533 (GRCm39) S2582P probably benign Het
Eef2 A G 10: 81,015,414 (GRCm39) T312A probably benign Het
Enpep T A 3: 129,063,966 (GRCm39) R934* probably null Het
Fam240b A T 13: 64,629,627 (GRCm39) M63K possibly damaging Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Gm6124 A T 7: 38,872,195 (GRCm39) noncoding transcript Het
Gsn G A 2: 35,180,432 (GRCm39) V147I probably benign Het
Gucy1a1 A T 3: 82,002,066 (GRCm39) F671Y possibly damaging Het
Hectd3 A G 4: 116,852,889 (GRCm39) E97G probably damaging Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Krba1 C T 6: 48,392,599 (GRCm39) P802S possibly damaging Het
Lca5l C T 16: 95,979,974 (GRCm39) S52N probably damaging Het
Lmf1 T C 17: 25,873,455 (GRCm39) L320P probably damaging Het
Map3k4 G T 17: 12,474,147 (GRCm39) Q845K probably benign Het
Mapkapk3 T C 9: 107,136,131 (GRCm39) probably benign Het
Mccc1 A G 3: 36,044,217 (GRCm39) V203A probably damaging Het
Mcm9 C A 10: 53,423,668 (GRCm39) M677I probably benign Het
Mkrn2 A G 6: 115,594,395 (GRCm39) T369A possibly damaging Het
Mthfr C A 4: 148,139,949 (GRCm39) N623K probably damaging Het
Myh2 T C 11: 67,071,985 (GRCm39) V571A probably benign Het
Nom1 G A 5: 29,651,370 (GRCm39) probably null Het
Or12e8 G A 2: 87,188,419 (GRCm39) M210I probably benign Het
Or14c46 A T 7: 85,918,968 (GRCm39) F10I probably damaging Het
Or2v2 T A 11: 49,004,254 (GRCm39) I100L probably benign Het
Pcdhb1 A C 18: 37,398,470 (GRCm39) L140F probably damaging Het
Ptgs2 G A 1: 149,976,002 (GRCm39) A10T probably benign Het
Rfx3 C T 19: 27,777,632 (GRCm39) R497Q probably damaging Het
Rps6kb1 A T 11: 86,410,702 (GRCm39) probably benign Het
Slc22a21 T C 11: 53,860,329 (GRCm39) D34G probably damaging Het
Spata13 T A 14: 60,947,004 (GRCm39) M684K probably damaging Het
Tet3 T C 6: 83,350,181 (GRCm39) T961A probably damaging Het
Ttc27 T C 17: 75,163,474 (GRCm39) L694P probably damaging Het
Vmn1r238 G A 18: 3,123,214 (GRCm39) Q67* probably null Het
Vmn2r101 A T 17: 19,832,303 (GRCm39) R766S probably damaging Het
Vwf A T 6: 125,619,285 (GRCm39) Y1321F probably damaging Het
Wfdc1 C A 8: 120,406,194 (GRCm39) P103Q probably damaging Het
Zfp488 C A 14: 33,692,851 (GRCm39) C104F possibly 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
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
R6927:Nucb1 UTSW 7 45,148,282 (GRCm39) missense possibly damaging 0.58
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'- AACTCCTTCCTCTGGGTGGATG -3'
(R):5'- TCTGCTTTCCTGTCAGTGAG -3'

Sequencing Primer
(F):5'- TGGATGCCAGGAACTCCTC -3'
(R):5'- GGTAAGTCCCCCAAGAG -3'
Posted On 2015-06-20