Incidental Mutation 'IGL03069:Calu'
| ID |
409833 |
| 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: 0.536)
|
| Stock # |
IGL03069
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
29348105-29376674 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29356582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 36
(D36G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133436
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031779]
[ENSMUST00000090481]
[ENSMUST00000172974]
[ENSMUST00000173216]
[ENSMUST00000173694]
[ENSMUST00000174096]
|
| AlphaFold |
O35887 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031779
AA Change: D36G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000031779
Gene: ENSMUSG00000029767
AA Change: D36G
| 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 benign
Transcript: ENSMUST00000090481
AA Change: D36G
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000087967
Gene: ENSMUSG00000029767
AA Change: D36G
| 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 benign
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 benign
Transcript: ENSMUST00000172974
AA Change: D36G
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000133390
Gene: ENSMUSG00000029767
AA Change: D36G
| 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 benign
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 |
possibly damaging
Transcript: ENSMUST00000173694
AA Change: D36G
PolyPhen 2
Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000133436
Gene: ENSMUSG00000029767
AA Change: D36G
| 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
AA Change: D38G
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000133945
Gene: ENSMUSG00000029767
AA Change: D38G
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
T |
G |
8: 13,607,704 (GRCm39) |
|
probably null |
Het |
| Acp3 |
T |
C |
9: 104,197,204 (GRCm39) |
E145G |
possibly damaging |
Het |
| Ankrd28 |
T |
A |
14: 31,477,743 (GRCm39) |
K42* |
probably null |
Het |
| Arsg |
A |
T |
11: 109,454,082 (GRCm39) |
K429N |
probably damaging |
Het |
| Bsn |
G |
A |
9: 107,991,462 (GRCm39) |
T1430I |
probably damaging |
Het |
| Ccdc18 |
T |
C |
5: 108,376,767 (GRCm39) |
S1403P |
probably damaging |
Het |
| Cdca2 |
A |
G |
14: 67,952,385 (GRCm39) |
|
probably benign |
Het |
| Cfh |
C |
A |
1: 140,026,793 (GRCm39) |
|
probably benign |
Het |
| Cyp2c69 |
C |
T |
19: 39,869,537 (GRCm39) |
G161S |
probably benign |
Het |
| Dennd4c |
C |
A |
4: 86,692,674 (GRCm39) |
Y61* |
probably null |
Het |
| Diaph3 |
A |
G |
14: 87,009,555 (GRCm39) |
S1075P |
probably damaging |
Het |
| Dpp7 |
T |
A |
2: 25,245,735 (GRCm39) |
|
probably null |
Het |
| Dtd1 |
T |
A |
2: 144,588,981 (GRCm39) |
|
probably benign |
Het |
| Dtl |
C |
A |
1: 191,289,008 (GRCm39) |
|
probably benign |
Het |
| Exoc3l4 |
A |
G |
12: 111,390,457 (GRCm39) |
D344G |
probably damaging |
Het |
| Hsp90ab1 |
A |
T |
17: 45,879,954 (GRCm39) |
C159S |
possibly damaging |
Het |
| Kcnip2 |
T |
C |
19: 45,784,710 (GRCm39) |
|
probably benign |
Het |
| Krba1 |
A |
G |
6: 48,391,483 (GRCm39) |
T755A |
possibly damaging |
Het |
| L2hgdh |
C |
T |
12: 69,739,173 (GRCm39) |
V433I |
probably benign |
Het |
| Lamc1 |
A |
T |
1: 153,115,127 (GRCm39) |
L1050I |
probably damaging |
Het |
| Lgals4 |
A |
T |
7: 28,540,343 (GRCm39) |
I213L |
probably benign |
Het |
| Lysmd1 |
A |
G |
3: 95,044,945 (GRCm39) |
I64V |
probably damaging |
Het |
| Mfsd4b4 |
A |
C |
10: 39,768,311 (GRCm39) |
C261G |
probably benign |
Het |
| Mrgprb3 |
T |
A |
7: 48,293,198 (GRCm39) |
I118F |
possibly damaging |
Het |
| Mtmr2 |
T |
A |
9: 13,704,501 (GRCm39) |
Y137* |
probably null |
Het |
| Ofcc1 |
A |
T |
13: 40,226,140 (GRCm39) |
H797Q |
probably benign |
Het |
| Omd |
A |
T |
13: 49,745,870 (GRCm39) |
|
probably benign |
Het |
| Or5d46 |
C |
T |
2: 88,170,643 (GRCm39) |
|
probably null |
Het |
| Or8g21 |
A |
T |
9: 38,906,728 (GRCm39) |
M1K |
probably null |
Het |
| Polr3a |
T |
A |
14: 24,511,808 (GRCm39) |
D916V |
probably damaging |
Het |
| Prpf38a |
T |
C |
4: 108,432,628 (GRCm39) |
Y117C |
probably damaging |
Het |
| Scn11a |
C |
T |
9: 119,619,029 (GRCm39) |
G771D |
probably benign |
Het |
| Smarca4 |
C |
T |
9: 21,547,132 (GRCm39) |
T219I |
probably benign |
Het |
| Snx1 |
T |
A |
9: 66,001,906 (GRCm39) |
I306F |
probably benign |
Het |
| Snx31 |
T |
A |
15: 36,525,749 (GRCm39) |
R317* |
probably null |
Het |
| Sorl1 |
T |
C |
9: 41,902,722 (GRCm39) |
T1612A |
probably benign |
Het |
| Spag1 |
G |
T |
15: 36,224,245 (GRCm39) |
|
probably benign |
Het |
| Stambp |
A |
G |
6: 83,538,914 (GRCm39) |
F162S |
probably damaging |
Het |
| Tkfc |
T |
A |
19: 10,576,518 (GRCm39) |
M122L |
probably benign |
Het |
| Tnni3k |
T |
A |
3: 154,647,242 (GRCm39) |
|
probably null |
Het |
| Trim56 |
T |
C |
5: 137,142,616 (GRCm39) |
Q300R |
probably damaging |
Het |
| Ttc24 |
T |
A |
3: 87,977,408 (GRCm39) |
T113S |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,339,876 (GRCm39) |
T706S |
possibly damaging |
Het |
| Yipf5 |
T |
A |
18: 40,339,290 (GRCm39) |
|
probably benign |
Het |
| Zfp202 |
T |
C |
9: 40,122,695 (GRCm39) |
S486P |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,369,100 (GRCm39) |
S1676P |
probably damaging |
Het |
| Znrd2 |
G |
T |
19: 5,780,450 (GRCm39) |
L183I |
possibly damaging |
Het |
|
| Other mutations in Calu |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01142:Calu
|
APN |
6 |
29,366,207 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation