Incidental Mutation 'IGL00423:Nucb2'
| ID |
27733 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nucb2
|
| Ensembl Gene |
ENSMUSG00000030659 |
| Gene Name |
nucleobindin 2 |
| Synonyms |
NEFA, nesfatin-1, Calnuc |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.180)
|
| Stock # |
IGL00423
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
116103604-116139819 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 116121066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032895]
[ENSMUST00000183175]
|
| AlphaFold |
P81117 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032895
|
| SMART Domains |
Protein: ENSMUSP00000032895
Gene: ENSMUSG00000030659
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,747,572 (GRCm39) |
E781G |
probably benign |
Het |
| Acp7 |
T |
C |
7: 28,314,122 (GRCm39) |
T358A |
possibly damaging |
Het |
| Adamtsl2 |
C |
A |
2: 26,975,100 (GRCm39) |
T199K |
probably damaging |
Het |
| Ap4e1 |
T |
A |
2: 126,870,209 (GRCm39) |
S179T |
probably damaging |
Het |
| BC048671 |
A |
G |
6: 90,280,200 (GRCm39) |
T39A |
probably benign |
Het |
| Cfap20dc |
G |
A |
14: 8,473,370 (GRCm38) |
P600S |
possibly damaging |
Het |
| Cnr1 |
G |
A |
4: 33,944,116 (GRCm39) |
S168N |
probably damaging |
Het |
| Cp |
T |
C |
3: 20,039,826 (GRCm39) |
V881A |
possibly damaging |
Het |
| Cyp4x1 |
T |
C |
4: 114,979,145 (GRCm39) |
T151A |
probably benign |
Het |
| Drd2 |
T |
C |
9: 49,307,058 (GRCm39) |
I48T |
probably damaging |
Het |
| Gemin5 |
A |
T |
11: 58,054,643 (GRCm39) |
I253N |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,845,700 (GRCm39) |
I407K |
probably damaging |
Het |
| Ighmbp2 |
G |
T |
19: 3,318,704 (GRCm39) |
H457Q |
probably benign |
Het |
| Mboat1 |
A |
G |
13: 30,379,776 (GRCm39) |
|
probably benign |
Het |
| Myh2 |
T |
C |
11: 67,088,171 (GRCm39) |
V1929A |
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,619,923 (GRCm39) |
N383S |
probably benign |
Het |
| Pde1a |
A |
G |
2: 79,696,014 (GRCm39) |
L443P |
probably damaging |
Het |
| Prph2 |
A |
T |
17: 47,230,704 (GRCm39) |
N199I |
probably damaging |
Het |
| Rab27b |
A |
G |
18: 70,129,138 (GRCm39) |
|
probably null |
Het |
| Ranbp3 |
G |
A |
17: 57,016,238 (GRCm39) |
D336N |
probably damaging |
Het |
| Rangap1 |
T |
C |
15: 81,606,194 (GRCm39) |
D49G |
probably benign |
Het |
| Rasa3 |
G |
A |
8: 13,645,410 (GRCm39) |
|
probably benign |
Het |
| Serpina6 |
T |
A |
12: 103,618,162 (GRCm39) |
N217I |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,252,743 (GRCm39) |
|
probably null |
Het |
| Spire1 |
A |
G |
18: 67,662,085 (GRCm39) |
V116A |
probably damaging |
Het |
| Tdrd1 |
T |
C |
19: 56,839,896 (GRCm39) |
V652A |
possibly damaging |
Het |
| Tmprss11g |
T |
C |
5: 86,640,050 (GRCm39) |
E193G |
probably benign |
Het |
| Zfp451 |
A |
T |
1: 33,816,660 (GRCm39) |
V213D |
probably benign |
Het |
|
| Other mutations in Nucb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02347:Nucb2
|
APN |
7 |
116,135,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0017:Nucb2
|
UTSW |
7 |
116,132,386 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0017:Nucb2
|
UTSW |
7 |
116,132,386 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0207:Nucb2
|
UTSW |
7 |
116,135,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0690:Nucb2
|
UTSW |
7 |
116,135,086 (GRCm39) |
splice site |
probably benign |
|
|
R1526:Nucb2
|
UTSW |
7 |
116,123,642 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3964:Nucb2
|
UTSW |
7 |
116,128,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3966:Nucb2
|
UTSW |
7 |
116,128,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4154:Nucb2
|
UTSW |
7 |
116,126,902 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4619:Nucb2
|
UTSW |
7 |
116,127,059 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4705:Nucb2
|
UTSW |
7 |
116,139,262 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4913:Nucb2
|
UTSW |
7 |
116,123,540 (GRCm39) |
nonsense |
probably null |
|
|
R4934:Nucb2
|
UTSW |
7 |
116,139,199 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5210:Nucb2
|
UTSW |
7 |
116,128,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7227:Nucb2
|
UTSW |
7 |
116,125,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7776:Nucb2
|
UTSW |
7 |
116,128,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7899:Nucb2
|
UTSW |
7 |
116,121,205 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8200:Nucb2
|
UTSW |
7 |
116,132,398 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8743:Nucb2
|
UTSW |
7 |
116,128,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8818:Nucb2
|
UTSW |
7 |
116,121,136 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8977:Nucb2
|
UTSW |
7 |
116,128,063 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9072:Nucb2
|
UTSW |
7 |
116,125,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9182:Nucb2
|
UTSW |
7 |
116,121,070 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation