Incidental Mutation 'R0736:Calb1'
| ID |
67285 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Calb1
|
| Ensembl Gene |
ENSMUSG00000028222 |
| Gene Name |
calbindin 1 |
| Synonyms |
Brain-2, calbindin-D (28k), CB, CalbindinD28K, calbindin, Calb, Calb-1 |
| MMRRC Submission |
038917-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.502)
|
| Stock # |
R0736 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
15881264-15906709 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 15898917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 138
(V138M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029876
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029876]
|
| AlphaFold |
P12658 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029876
AA Change: V138M
PolyPhen 2
Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000029876
Gene: ENSMUSG00000028222
AA Change: V138M
| 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 |
- 1x: 99.6%
- 3x: 99.0%
- 10x: 97.6%
- 20x: 95.3%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amn1 |
G |
A |
6: 149,084,970 (GRCm39) |
H37Y |
possibly damaging |
Het |
| Cacna2d3 |
A |
T |
14: 28,780,585 (GRCm39) |
H644Q |
probably benign |
Het |
| Cep55 |
C |
A |
19: 38,061,765 (GRCm39) |
T402N |
probably benign |
Het |
| Chrnb3 |
G |
A |
8: 27,875,078 (GRCm39) |
A26T |
probably benign |
Het |
| Col6a3 |
C |
T |
1: 90,731,811 (GRCm39) |
V1481I |
possibly damaging |
Het |
| Dmxl2 |
C |
T |
9: 54,286,101 (GRCm39) |
V2695I |
probably damaging |
Het |
| Elapor2 |
A |
T |
5: 9,491,745 (GRCm39) |
S702C |
probably damaging |
Het |
| Heatr5a |
A |
C |
12: 51,943,344 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
C |
T |
5: 25,500,432 (GRCm39) |
M461I |
probably benign |
Het |
| Mapk9 |
G |
A |
11: 49,774,081 (GRCm39) |
D413N |
possibly damaging |
Het |
| Morc4 |
G |
T |
X: 138,755,700 (GRCm39) |
Q239K |
probably benign |
Het |
| Myt1l |
T |
A |
12: 29,877,813 (GRCm39) |
V488D |
unknown |
Het |
| Neb |
A |
T |
2: 52,082,024 (GRCm39) |
Y24N |
probably damaging |
Het |
| Neo1 |
G |
A |
9: 58,824,364 (GRCm39) |
P688L |
possibly damaging |
Het |
| Nlrp9b |
A |
T |
7: 19,783,375 (GRCm39) |
D409V |
probably damaging |
Het |
| Pcare |
A |
G |
17: 72,051,659 (GRCm39) |
V1231A |
probably benign |
Het |
| Pde7a |
T |
C |
3: 19,285,207 (GRCm39) |
N327D |
probably damaging |
Het |
| Pdzd8 |
C |
A |
19: 59,333,365 (GRCm39) |
V219L |
probably damaging |
Het |
| Pgc |
T |
A |
17: 48,039,705 (GRCm39) |
M33K |
probably damaging |
Het |
| Pik3ap1 |
T |
A |
19: 41,320,758 (GRCm39) |
T154S |
possibly damaging |
Het |
| Polm |
G |
C |
11: 5,785,495 (GRCm39) |
S188C |
possibly damaging |
Het |
| Slfn1 |
A |
T |
11: 83,011,907 (GRCm39) |
T8S |
probably benign |
Het |
| St8sia6 |
C |
T |
2: 13,673,696 (GRCm39) |
V179M |
probably benign |
Het |
| Tns3 |
A |
T |
11: 8,469,474 (GRCm39) |
F274I |
possibly damaging |
Het |
| Tspan5 |
T |
C |
3: 138,574,159 (GRCm39) |
|
probably null |
Het |
| Utp14b |
A |
G |
1: 78,642,989 (GRCm39) |
K296E |
probably damaging |
Het |
| Zbtb14 |
A |
G |
17: 69,694,797 (GRCm39) |
E165G |
possibly damaging |
Het |
| Zbtb17 |
C |
A |
4: 141,189,097 (GRCm39) |
H6N |
probably damaging |
Het |
| Zw10 |
C |
T |
9: 48,975,432 (GRCm39) |
H286Y |
probably benign |
Het |
|
| Other mutations in Calb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01464:Calb1
|
APN |
4 |
15,881,485 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTTGGGAAGCCACAGGGACC -3'
(R):5'- GCACTAGGCACCTTTGTTTAAAGAAGC -3'
Sequencing Primer
(F):5'- GGGACCACCTACCTGACTTC -3'
(R):5'- GTGACATAGCTTCATCAGAAATGCTC -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation