Incidental Mutation 'R5210:Nucb2'
| ID |
403094 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nucb2
|
| Ensembl Gene |
ENSMUSG00000030659 |
| Gene Name |
nucleobindin 2 |
| Synonyms |
NEFA, nesfatin-1, Calnuc |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R5210 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
116103604-116139819 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116128222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 278
(Y278N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032895]
[ENSMUST00000183175]
|
| AlphaFold |
P81117 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032895
AA Change: Y278N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032895
Gene: ENSMUSG00000030659
AA Change: Y278N
| 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 damaging
Transcript: ENSMUST00000183175
AA Change: Y278N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138741
Gene: ENSMUSG00000030659
AA Change: Y278N
| 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 |
unknown
Transcript: ENSMUST00000183335
AA Change: Y26N
|
| Meta Mutation Damage Score |
0.6522 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (40/41) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
T |
A |
5: 35,994,416 (GRCm39) |
V342E |
probably benign |
Het |
| Adgre4 |
T |
A |
17: 56,092,029 (GRCm39) |
N96K |
probably damaging |
Het |
| Aopep |
A |
G |
13: 63,215,924 (GRCm39) |
I399V |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,087,414 (GRCm39) |
V710A |
possibly damaging |
Het |
| Ccdc171 |
A |
G |
4: 83,473,093 (GRCm39) |
E174G |
probably damaging |
Het |
| Col11a1 |
T |
C |
3: 113,946,806 (GRCm39) |
F1026S |
probably damaging |
Het |
| Coro1c |
A |
G |
5: 113,983,367 (GRCm39) |
L387P |
probably damaging |
Het |
| Dsg1c |
C |
T |
18: 20,407,758 (GRCm39) |
T368I |
probably damaging |
Het |
| Exoc3l4 |
C |
A |
12: 111,395,275 (GRCm39) |
|
probably benign |
Het |
| Extl1 |
T |
C |
4: 134,087,895 (GRCm39) |
D453G |
probably benign |
Het |
| Gm21136 |
T |
C |
7: 38,567,165 (GRCm39) |
|
noncoding transcript |
Het |
| H3c4 |
G |
T |
13: 23,760,015 (GRCm39) |
G14C |
possibly damaging |
Het |
| Ifi208 |
T |
C |
1: 173,510,831 (GRCm39) |
S329P |
probably benign |
Het |
| Iscu |
T |
A |
5: 113,915,034 (GRCm39) |
L182* |
probably null |
Het |
| Klra6 |
T |
A |
6: 129,995,855 (GRCm39) |
K168* |
probably null |
Het |
| Map3k5 |
T |
C |
10: 19,900,647 (GRCm39) |
S274P |
possibly damaging |
Het |
| Megf6 |
G |
T |
4: 154,354,273 (GRCm39) |
|
probably benign |
Het |
| Mmp12 |
T |
A |
9: 7,349,729 (GRCm39) |
Y53* |
probably null |
Het |
| Numa1 |
C |
A |
7: 101,649,188 (GRCm39) |
A973E |
probably benign |
Het |
| Or1o4 |
C |
A |
17: 37,590,824 (GRCm39) |
K162N |
probably benign |
Het |
| Or2w1b |
A |
T |
13: 21,300,222 (GRCm39) |
Y120F |
probably damaging |
Het |
| Or5b123 |
A |
G |
19: 13,596,763 (GRCm39) |
K79R |
probably damaging |
Het |
| Or7g18 |
T |
A |
9: 18,787,103 (GRCm39) |
L157Q |
probably damaging |
Het |
| Pcdhga3 |
C |
A |
18: 37,808,963 (GRCm39) |
T472K |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,763,464 (GRCm39) |
D694G |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,607,199 (GRCm39) |
|
probably null |
Het |
| Pou3f2 |
C |
T |
4: 22,487,324 (GRCm39) |
D270N |
probably damaging |
Het |
| Prrc2a |
G |
A |
17: 35,372,596 (GRCm39) |
R1682W |
probably damaging |
Het |
| Rb1 |
A |
G |
14: 73,436,751 (GRCm39) |
F838S |
probably damaging |
Het |
| Sec24c |
A |
G |
14: 20,741,872 (GRCm39) |
E769G |
probably damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Tmem63c |
A |
T |
12: 87,136,172 (GRCm39) |
E796V |
probably benign |
Het |
| Tomm70a |
G |
A |
16: 56,953,614 (GRCm39) |
|
probably null |
Het |
| Tpcn1 |
G |
A |
5: 120,677,279 (GRCm39) |
T676I |
probably damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
|
| Other mutations in Nucb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00423:Nucb2
|
APN |
7 |
116,121,066 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCACTACTGCAAACCATTG -3'
(R):5'- TCTAAGGAAATACTGACTGCCTG -3'
Sequencing Primer
(F):5'- GCACTACTGCAAACCATTGTAATTG -3'
(R):5'- GGAAATACTGACTGCCTGTTTATTCC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation