Incidental Mutation 'IGL01464:Calb1'
ID |
88074 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Calb1
|
Ensembl Gene |
ENSMUSG00000028222 |
Gene Name |
calbindin 1 |
Synonyms |
Brain-2, calbindin-D (28k), CB, CalbindinD28K, calbindin, Calb, Calb-1 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.502)
|
Stock # |
IGL01464
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
15881264-15906709 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 15881485 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029876
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029876]
|
AlphaFold |
P12658 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029876
|
SMART Domains |
Protein: ENSMUSP00000029876 Gene: ENSMUSG00000028222
Domain | Start | End | E-Value | Type |
EFh
|
15 |
43 |
2.37e-3 |
SMART |
EFh
|
102 |
130 |
4.32e-6 |
SMART |
EFh
|
146 |
174 |
2.87e0 |
SMART |
EFh
|
190 |
218 |
2.7e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136266
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141336
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the calcium-binding protein superfamily that includes calmodulin and troponin C. Originally described as a 27 kDa protein, it is now known to be a 28 kDa protein. It contains four active calcium-binding domains, and has two modified domains that are thought to have lost their calcium binding capability. This protein is thought to buffer entry of calcium upon stimulation of glutamate receptors. Depletion of this protein was noted in patients with Huntington disease. [provided by RefSeq, Jan 2015] PHENOTYPE: Homozygous targeted mutants show severely impairment in motor coordination and Purkinje cells in the cerebellum show changes of synaptically evoked postsynaptic calcium transients. [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 |
Adcy10 |
C |
A |
1: 165,374,156 (GRCm39) |
H748Q |
probably damaging |
Het |
Aebp1 |
T |
C |
11: 5,819,822 (GRCm39) |
V329A |
possibly damaging |
Het |
Ankk1 |
T |
C |
9: 49,327,272 (GRCm39) |
T636A |
probably benign |
Het |
Apoh |
A |
T |
11: 108,286,716 (GRCm39) |
I47F |
probably damaging |
Het |
Atg9a |
A |
G |
1: 75,167,010 (GRCm39) |
S14P |
probably damaging |
Het |
Ccdc121rt3 |
A |
G |
5: 112,503,399 (GRCm39) |
S102P |
possibly damaging |
Het |
Cd86 |
T |
C |
16: 36,441,315 (GRCm39) |
S51G |
probably benign |
Het |
Ctsll3 |
C |
T |
13: 60,948,134 (GRCm39) |
G181D |
probably damaging |
Het |
Elmod2 |
G |
A |
8: 84,043,421 (GRCm39) |
|
probably benign |
Het |
Ephx3 |
A |
G |
17: 32,407,219 (GRCm39) |
S240P |
probably damaging |
Het |
Greb1 |
T |
C |
12: 16,764,827 (GRCm39) |
I435M |
probably damaging |
Het |
Itpr1 |
A |
G |
6: 108,363,688 (GRCm39) |
D770G |
possibly damaging |
Het |
Kmt2c |
G |
A |
5: 25,557,242 (GRCm39) |
T1155I |
possibly damaging |
Het |
Lrp2 |
T |
C |
2: 69,302,783 (GRCm39) |
D2982G |
probably damaging |
Het |
Map1b |
C |
T |
13: 99,569,251 (GRCm39) |
V1157I |
unknown |
Het |
Nlrp4c |
T |
C |
7: 6,103,783 (GRCm39) |
C906R |
possibly damaging |
Het |
Nlrp9b |
T |
A |
7: 19,796,580 (GRCm39) |
N976K |
probably benign |
Het |
Nos1 |
T |
C |
5: 118,081,257 (GRCm39) |
F1153S |
probably damaging |
Het |
Pnrc1 |
T |
C |
4: 33,246,395 (GRCm39) |
Y188C |
probably benign |
Het |
Polr3a |
A |
C |
14: 24,520,749 (GRCm39) |
|
probably benign |
Het |
Rgs22 |
T |
C |
15: 36,083,787 (GRCm39) |
T512A |
possibly damaging |
Het |
Rhbdf2 |
C |
T |
11: 116,491,734 (GRCm39) |
G574S |
probably benign |
Het |
Rnf123 |
T |
C |
9: 107,929,501 (GRCm39) |
D1217G |
probably damaging |
Het |
Slc19a2 |
T |
C |
1: 164,088,430 (GRCm39) |
S92P |
probably damaging |
Het |
Sycp2 |
A |
T |
2: 178,043,425 (GRCm39) |
I139N |
probably damaging |
Het |
Vmn2r91 |
A |
G |
17: 18,327,864 (GRCm39) |
N486S |
probably null |
Het |
Xpo1 |
T |
A |
11: 23,217,703 (GRCm39) |
H56Q |
probably damaging |
Het |
Zbtb44 |
T |
A |
9: 30,965,580 (GRCm39) |
L330H |
probably damaging |
Het |
|
Other mutations in Calb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02900:Calb1
|
APN |
4 |
15,895,695 (GRCm39) |
splice site |
probably benign |
|
PIT4531001:Calb1
|
UTSW |
4 |
15,900,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R0736:Calb1
|
UTSW |
4 |
15,898,917 (GRCm39) |
missense |
probably benign |
0.43 |
R1553:Calb1
|
UTSW |
4 |
15,895,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R2926:Calb1
|
UTSW |
4 |
15,904,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R4623:Calb1
|
UTSW |
4 |
15,895,721 (GRCm39) |
intron |
probably benign |
|
R5463:Calb1
|
UTSW |
4 |
15,885,656 (GRCm39) |
missense |
probably benign |
|
R5586:Calb1
|
UTSW |
4 |
15,900,811 (GRCm39) |
missense |
probably benign |
0.00 |
R6630:Calb1
|
UTSW |
4 |
15,885,637 (GRCm39) |
missense |
probably benign |
|
R8105:Calb1
|
UTSW |
4 |
15,900,767 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8254:Calb1
|
UTSW |
4 |
15,898,926 (GRCm39) |
missense |
probably benign |
|
R9480:Calb1
|
UTSW |
4 |
15,885,608 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2013-11-18 |