Incidental Mutation 'IGL01142:Calu'
ID |
51385 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Calu
|
Ensembl Gene |
ENSMUSG00000029767 |
Gene Name |
calumenin |
Synonyms |
9530075H20Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.588)
|
Stock # |
IGL01142
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
29348105-29376674 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 29366207 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134708
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031779]
[ENSMUST00000090481]
[ENSMUST00000172974]
[ENSMUST00000173216]
[ENSMUST00000173694]
[ENSMUST00000174096]
|
AlphaFold |
O35887 |
Predicted Effect |
probably null
Transcript: ENSMUST00000031779
|
SMART Domains |
Protein: ENSMUSP00000031779 Gene: ENSMUSG00000029767
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
EFh
|
72 |
100 |
1.1e1 |
SMART |
Blast:EFh
|
108 |
136 |
3e-11 |
BLAST |
EFh
|
155 |
183 |
9.61e1 |
SMART |
EFh
|
192 |
220 |
2.03e-2 |
SMART |
Blast:EFh
|
233 |
261 |
2e-10 |
BLAST |
EFh
|
269 |
297 |
5.75e1 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000090481
|
SMART Domains |
Protein: ENSMUSP00000087967 Gene: ENSMUSG00000029767
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
EFh
|
72 |
100 |
1.82e0 |
SMART |
EFh
|
108 |
136 |
2.44e1 |
SMART |
EFh
|
155 |
183 |
9.61e1 |
SMART |
EFh
|
192 |
220 |
2.03e-2 |
SMART |
Blast:EFh
|
233 |
261 |
2e-10 |
BLAST |
EFh
|
269 |
297 |
5.75e1 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000156163
|
SMART Domains |
Protein: ENSMUSP00000133615 Gene: ENSMUSG00000029767
Domain | Start | End | E-Value | Type |
EFh
|
26 |
54 |
9.61e1 |
SMART |
EFh
|
63 |
91 |
2.03e-2 |
SMART |
Blast:EFh
|
104 |
132 |
3e-11 |
BLAST |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000172974
|
SMART Domains |
Protein: ENSMUSP00000133390 Gene: ENSMUSG00000029767
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
EFh
|
72 |
100 |
1.1e1 |
SMART |
Blast:EFh
|
108 |
136 |
1e-11 |
BLAST |
EFh
|
155 |
183 |
9.61e1 |
SMART |
EFh
|
192 |
220 |
1.41e-1 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000173216
|
SMART Domains |
Protein: ENSMUSP00000134708 Gene: ENSMUSG00000029767
Domain | Start | End | E-Value | Type |
EFh
|
3 |
31 |
9.61e1 |
SMART |
EFh
|
40 |
68 |
2.03e-2 |
SMART |
Blast:EFh
|
81 |
109 |
2e-11 |
BLAST |
EFh
|
117 |
145 |
5.75e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173694
|
SMART Domains |
Protein: ENSMUSP00000133436 Gene: ENSMUSG00000029767
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
EFh
|
72 |
100 |
5.38e0 |
SMART |
EFh
|
108 |
136 |
5.75e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174096
|
SMART Domains |
Protein: ENSMUSP00000133945 Gene: ENSMUSG00000029767
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:EF-hand_7
|
43 |
97 |
5.3e-8 |
PFAM |
Pfam:EF-hand_6
|
72 |
101 |
6.5e-5 |
PFAM |
Pfam:EF-hand_7
|
72 |
133 |
5e-12 |
PFAM |
Pfam:EF-hand_5
|
73 |
98 |
4.5e-5 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a calcium-binding protein localized in the endoplasmic reticulum (ER) and it is involved in such ER functions as protein folding and sorting. This protein belongs to a family of multiple EF-hand proteins (CERC) that include reticulocalbin, ERC-55, and Cab45 and the product of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Armc3 |
C |
T |
2: 19,302,709 (GRCm39) |
|
probably benign |
Het |
Cacnb3 |
T |
A |
15: 98,539,883 (GRCm39) |
L269* |
probably null |
Het |
Cep97 |
A |
G |
16: 55,742,561 (GRCm39) |
S129P |
probably damaging |
Het |
Cpt1b |
T |
C |
15: 89,303,196 (GRCm39) |
M620V |
probably benign |
Het |
Dnah7b |
T |
C |
1: 46,234,538 (GRCm39) |
|
probably null |
Het |
Evi5 |
T |
C |
5: 107,963,477 (GRCm39) |
K410R |
probably benign |
Het |
Gad2 |
T |
C |
2: 22,571,297 (GRCm39) |
|
probably benign |
Het |
Helb |
A |
T |
10: 119,947,049 (GRCm39) |
V88D |
probably damaging |
Het |
Hexim2 |
A |
G |
11: 103,024,960 (GRCm39) |
E19G |
probably benign |
Het |
Klhl25 |
T |
C |
7: 75,516,344 (GRCm39) |
Y112H |
probably damaging |
Het |
Lin52 |
T |
C |
12: 84,503,009 (GRCm39) |
|
probably benign |
Het |
Ms4a4c |
A |
G |
19: 11,403,614 (GRCm39) |
T157A |
probably benign |
Het |
Or12e8 |
T |
C |
2: 87,187,889 (GRCm39) |
F34L |
possibly damaging |
Het |
Or7g17 |
A |
G |
9: 18,768,830 (GRCm39) |
N303S |
probably damaging |
Het |
Plxnb1 |
A |
G |
9: 108,931,765 (GRCm39) |
T472A |
probably benign |
Het |
Sez6 |
T |
G |
11: 77,864,642 (GRCm39) |
V534G |
probably damaging |
Het |
Sim1 |
C |
A |
10: 50,786,767 (GRCm39) |
T333K |
probably damaging |
Het |
Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
Tmem115 |
A |
G |
9: 107,411,844 (GRCm39) |
N56S |
possibly damaging |
Het |
Ubac1 |
T |
C |
2: 25,896,580 (GRCm39) |
I150V |
probably damaging |
Het |
Vps13a |
T |
C |
19: 16,664,479 (GRCm39) |
K1455E |
possibly damaging |
Het |
Yrdc |
T |
C |
4: 124,747,787 (GRCm39) |
F97L |
probably damaging |
Het |
|
Other mutations in Calu |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01432:Calu
|
APN |
6 |
29,356,552 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02926:Calu
|
APN |
6 |
29,366,919 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL02966:Calu
|
APN |
6 |
29,356,584 (GRCm39) |
nonsense |
probably null |
|
IGL03069:Calu
|
APN |
6 |
29,356,582 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0320:Calu
|
UTSW |
6 |
29,374,550 (GRCm39) |
utr 3 prime |
probably benign |
|
R1080:Calu
|
UTSW |
6 |
29,366,919 (GRCm39) |
missense |
possibly damaging |
0.74 |
R1487:Calu
|
UTSW |
6 |
29,366,955 (GRCm39) |
missense |
probably benign |
0.38 |
R1560:Calu
|
UTSW |
6 |
29,361,657 (GRCm39) |
missense |
probably benign |
0.00 |
R1993:Calu
|
UTSW |
6 |
29,366,974 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2074:Calu
|
UTSW |
6 |
29,372,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R3944:Calu
|
UTSW |
6 |
29,361,710 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5024:Calu
|
UTSW |
6 |
29,374,518 (GRCm39) |
utr 3 prime |
probably benign |
|
R5874:Calu
|
UTSW |
6 |
29,372,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R7297:Calu
|
UTSW |
6 |
29,356,554 (GRCm39) |
nonsense |
probably null |
|
R7675:Calu
|
UTSW |
6 |
29,356,516 (GRCm39) |
missense |
probably benign |
|
R9070:Calu
|
UTSW |
6 |
29,356,567 (GRCm39) |
missense |
probably benign |
|
R9484:Calu
|
UTSW |
6 |
29,366,162 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Calu
|
UTSW |
6 |
29,372,514 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2013-06-21 |