Incidental Mutation 'R3499:Nucb1'
ID 273703
Institutional Source Beutler Lab
Gene Symbol Nucb1
Ensembl Gene ENSMUSG00000030824
Gene Name nucleobindin 1
Synonyms Calnuc, B230337F23Rik, MTEST82
MMRRC Submission 040662-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3499 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 45142300-45159813 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45148300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 171 (H171R)
Ref Sequence ENSEMBL: ENSMUSP00000147428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033096] [ENSMUST00000107758] [ENSMUST00000107759] [ENSMUST00000209436] [ENSMUST00000211765] [ENSMUST00000211343] [ENSMUST00000211682] [ENSMUST00000210813]
AlphaFold Q02819
Predicted Effect probably benign
Transcript: ENSMUST00000033096
AA Change: H171R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000033096
Gene: ENSMUSG00000030824
AA Change: H171R

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: ENSMUST00000131589
AA Change: H171R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000116036
Gene: ENSMUSG00000030824
AA Change: H171R

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209436
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209509
Predicted Effect probably benign
Transcript: ENSMUST00000211765
AA Change: H171R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000211343
AA Change: H135R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000211682
AA Change: H171R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect unknown
Transcript: ENSMUST00000210449
AA Change: H37R
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210675
Predicted Effect probably benign
Transcript: ENSMUST00000210813
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211413
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210394
Meta Mutation Damage Score 0.0890 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 100% (46/46)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430571L13Rik A T 9: 107,219,678 (GRCm39) T44S probably damaging Het
Cass4 C T 2: 172,274,478 (GRCm39) P753L probably damaging Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Ctif A T 18: 75,744,828 (GRCm39) L92Q possibly damaging Het
Dnah11 C A 12: 117,874,758 (GRCm39) D4036Y probably damaging Het
Dnah17 C T 11: 117,971,675 (GRCm39) probably benign Het
Dnah6 G C 6: 73,009,616 (GRCm39) A3725G probably benign Het
Ebag9 A G 15: 44,493,528 (GRCm39) N117D probably benign Het
Elf4 C T X: 47,507,942 (GRCm39) E158K probably benign Het
Ephb6 C T 6: 41,593,093 (GRCm39) R444* probably null Het
Fcgbpl1 T A 7: 27,853,980 (GRCm39) I1648K probably benign Het
Fndc1 C T 17: 7,972,416 (GRCm39) M1505I possibly damaging Het
Gpr35 A G 1: 92,911,113 (GRCm39) Y275C probably damaging Het
Hmcn1 A T 1: 150,480,853 (GRCm39) I4441N probably damaging Het
Kif13a T C 13: 46,978,815 (GRCm39) D195G probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Ksr2 C A 5: 117,827,640 (GRCm39) T473K probably damaging Het
Kxd1 T C 8: 70,966,632 (GRCm39) probably null Het
Lyplal1 A G 1: 185,820,857 (GRCm39) S197P possibly damaging Het
Macf1 A T 4: 123,421,098 (GRCm39) L52* probably null Het
Mrgprb5 A G 7: 47,818,661 (GRCm39) S25P probably benign Het
Or10d1c A G 9: 38,893,761 (GRCm39) L193P probably damaging Het
Or4a15 A T 2: 89,193,294 (GRCm39) F160I probably benign Het
Or56b35 G A 7: 104,963,607 (GRCm39) C132Y probably damaging Het
Or8h8 A G 2: 86,753,373 (GRCm39) F168L possibly damaging Het
Or8k18 A G 2: 86,085,185 (GRCm39) M284T possibly damaging Het
Prkdc A T 16: 15,585,889 (GRCm39) I2476F probably damaging Het
Ptprf A T 4: 118,082,127 (GRCm39) I1037N probably damaging Het
Ralgapa1 T G 12: 55,741,928 (GRCm39) probably benign Het
Ranbp17 GCCTGGATACTGACC GCC 11: 33,169,203 (GRCm39) probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Slc28a3 C T 13: 58,721,253 (GRCm39) probably benign Het
Slc44a4 A G 17: 35,140,656 (GRCm39) D283G probably benign Het
Slc6a9 A G 4: 117,714,000 (GRCm39) I105V probably benign Het
Smgc A G 15: 91,726,206 (GRCm39) T51A possibly damaging Het
Smyd5 T A 6: 85,415,172 (GRCm39) L60H probably damaging Het
Spred1 A T 2: 117,005,867 (GRCm39) M210L probably benign Het
Syne2 G A 12: 76,101,752 (GRCm39) probably null Het
Tab3 T C X: 84,658,727 (GRCm39) I418T probably benign Het
Tbc1d12 A T 19: 38,884,478 (GRCm39) E343V possibly damaging Het
Tktl2 T A 8: 66,965,897 (GRCm39) I485N probably damaging Het
Tmem181a T A 17: 6,330,894 (GRCm39) Y51* probably null Het
Tmem229b-ps C T 10: 53,351,223 (GRCm39) noncoding transcript Het
Trip11 A G 12: 101,859,953 (GRCm39) I307T possibly damaging Het
Ttf1 T C 2: 28,955,499 (GRCm39) S288P possibly damaging Het
Zfp395 G T 14: 65,628,742 (GRCm39) R198L 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
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
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'- GCACTCATTTTCTGCTTAGGAG -3'
(R):5'- TCCTGAAATGCTGAGCTCGC -3'

Sequencing Primer
(F):5'- ACTCATTTTCTGCTTAGGAGTTGGAC -3'
(R):5'- GGGGACTCGAAAGATTCACATCC -3'
Posted On 2015-04-02