Incidental Mutation 'R0320:Calu'
| ID |
38281 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Calu
|
| Ensembl Gene |
ENSMUSG00000029767 |
| Gene Name |
calumenin |
| Synonyms |
9530075H20Rik |
| MMRRC Submission |
038530-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.588)
|
| Stock # |
R0320 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29348105-29376674 bp(+) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
C to A
at 29374550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133945
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031779]
[ENSMUST00000080428]
[ENSMUST00000090481]
[ENSMUST00000147483]
[ENSMUST00000173653]
[ENSMUST00000172974]
[ENSMUST00000174096]
[ENSMUST00000173216]
[ENSMUST00000173694]
|
| AlphaFold |
O35887 |
| Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000080428
|
| SMART Domains |
Protein: ENSMUSP00000079289
Gene: ENSMUSG00000058831
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srv
|
41 |
318 |
4e-9 |
PFAM |
|
Pfam:7tm_1
|
49 |
301 |
2.5e-43 |
PFAM |
|
Pfam:7tm_4
|
188 |
319 |
6.2e-8 |
PFAM |
|
low complexity region
|
330 |
343 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
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 |
noncoding transcript
Transcript: ENSMUST00000131928
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138523
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147483
|
| SMART Domains |
Protein: ENSMUSP00000133745
Gene: ENSMUSG00000058831
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
40 |
250 |
9.2e-7 |
PFAM |
|
Pfam:7TM_GPCR_Srv
|
41 |
254 |
1.8e-6 |
PFAM |
|
Pfam:7tm_1
|
49 |
271 |
1.9e-39 |
PFAM |
|
| 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: ENSMUST00000172607
|
| SMART Domains |
Protein: ENSMUSP00000133609
Gene: ENSMUSG00000029767
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:EFh
|
2 |
20 |
1e-5 |
BLAST |
|
SCOP:d2mysb_
|
2 |
51 |
6e-5 |
SMART |
|
Blast:EFh
|
28 |
56 |
2e-12 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173653
|
| SMART Domains |
Protein: ENSMUSP00000133534
Gene: ENSMUSG00000058831
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
1 |
61 |
6.6e-7 |
PFAM |
|
| Predicted Effect |
probably benign
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 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 |
|
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| Validation Efficiency |
100% (71/71) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,384,571 (GRCm39) |
T465A |
probably benign |
Het |
| A430110L20Rik |
T |
G |
1: 181,054,987 (GRCm39) |
|
noncoding transcript |
Het |
| Aadacl4fm1 |
A |
T |
4: 144,248,990 (GRCm39) |
H119L |
probably damaging |
Het |
| Abcb10 |
C |
T |
8: 124,689,746 (GRCm39) |
R439Q |
probably benign |
Het |
| Abcb8 |
T |
C |
5: 24,605,788 (GRCm39) |
S199P |
probably damaging |
Het |
| Adam8 |
C |
A |
7: 139,566,355 (GRCm39) |
C556F |
probably damaging |
Het |
| Akap11 |
T |
C |
14: 78,750,819 (GRCm39) |
T523A |
probably benign |
Het |
| Aldh3b1 |
T |
C |
19: 3,968,999 (GRCm39) |
|
probably benign |
Het |
| Arhgap30 |
T |
A |
1: 171,231,372 (GRCm39) |
W230R |
possibly damaging |
Het |
| Atp8b4 |
A |
G |
2: 126,301,614 (GRCm39) |
I82T |
possibly damaging |
Het |
| Bptf |
A |
T |
11: 106,963,645 (GRCm39) |
L1850I |
probably damaging |
Het |
| C4b |
C |
A |
17: 34,952,135 (GRCm39) |
V1237L |
probably benign |
Het |
| Cit |
C |
A |
5: 116,117,504 (GRCm39) |
L1227M |
possibly damaging |
Het |
| Col4a1 |
C |
T |
8: 11,292,782 (GRCm39) |
|
probably null |
Het |
| Cp |
T |
C |
3: 20,029,012 (GRCm39) |
|
probably benign |
Het |
| Cpd |
T |
C |
11: 76,731,273 (GRCm39) |
D311G |
possibly damaging |
Het |
| Ctc1 |
T |
A |
11: 68,924,363 (GRCm39) |
S972T |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 117,943,500 (GRCm39) |
F3201L |
possibly damaging |
Het |
| Dop1b |
C |
A |
16: 93,607,035 (GRCm39) |
R2113S |
probably benign |
Het |
| Dym |
T |
A |
18: 75,332,333 (GRCm39) |
D520E |
probably damaging |
Het |
| Eif5a |
G |
T |
11: 69,808,305 (GRCm39) |
T64K |
probably benign |
Het |
| Flt3 |
A |
T |
5: 147,306,389 (GRCm39) |
|
probably benign |
Het |
| Ints6 |
A |
T |
14: 62,945,084 (GRCm39) |
Y415* |
probably null |
Het |
| Itga1 |
A |
G |
13: 115,114,130 (GRCm39) |
|
probably benign |
Het |
| Itgae |
A |
G |
11: 73,021,825 (GRCm39) |
H902R |
possibly damaging |
Het |
| Itprid1 |
T |
C |
6: 55,953,432 (GRCm39) |
I916T |
probably damaging |
Het |
| Kdm5a |
T |
C |
6: 120,366,581 (GRCm39) |
I406T |
probably benign |
Het |
| Lmx1a |
C |
T |
1: 167,618,973 (GRCm39) |
Q111* |
probably null |
Het |
| Lrrc25 |
T |
C |
8: 71,070,896 (GRCm39) |
Y226H |
probably benign |
Het |
| Mcam |
T |
A |
9: 44,051,483 (GRCm39) |
N447K |
possibly damaging |
Het |
| Mcm10 |
A |
T |
2: 5,008,897 (GRCm39) |
D357E |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,089,251 (GRCm39) |
T769A |
probably benign |
Het |
| Ofcc1 |
G |
C |
13: 40,360,172 (GRCm39) |
Q286E |
probably benign |
Het |
| Or1e23 |
T |
G |
11: 73,407,750 (GRCm39) |
I92L |
probably damaging |
Het |
| Or56b35 |
A |
T |
7: 104,963,861 (GRCm39) |
I217F |
probably benign |
Het |
| Parp3 |
T |
A |
9: 106,353,011 (GRCm39) |
N55I |
possibly damaging |
Het |
| Parp4 |
T |
C |
14: 56,825,953 (GRCm39) |
|
probably null |
Het |
| Pilrb1 |
G |
A |
5: 137,853,260 (GRCm39) |
T181I |
probably benign |
Het |
| Ppm1n |
A |
G |
7: 19,012,281 (GRCm39) |
V317A |
probably damaging |
Het |
| Prdm2 |
A |
T |
4: 142,905,921 (GRCm39) |
F55L |
probably damaging |
Het |
| Psd2 |
C |
T |
18: 36,112,697 (GRCm39) |
R131C |
probably damaging |
Het |
| Ralgps1 |
A |
T |
2: 33,031,027 (GRCm39) |
C570S |
possibly damaging |
Het |
| Scaf8 |
T |
C |
17: 3,228,530 (GRCm39) |
S443P |
unknown |
Het |
| Setd5 |
A |
G |
6: 113,088,442 (GRCm39) |
K190R |
probably damaging |
Het |
| Spsb4 |
T |
A |
9: 96,878,161 (GRCm39) |
H54L |
probably damaging |
Het |
| St7l |
T |
A |
3: 104,778,229 (GRCm39) |
L122* |
probably null |
Het |
| Stom |
C |
T |
2: 35,211,646 (GRCm39) |
R125H |
probably damaging |
Het |
| Tigd4 |
T |
A |
3: 84,502,481 (GRCm39) |
V466E |
probably benign |
Het |
| Tmc3 |
A |
C |
7: 83,257,027 (GRCm39) |
|
probably benign |
Het |
| Vcl |
C |
T |
14: 21,035,692 (GRCm39) |
|
probably benign |
Het |
| Vmn1r168 |
G |
A |
7: 23,240,767 (GRCm39) |
R208H |
probably benign |
Het |
| Vmn2r75 |
C |
A |
7: 85,814,288 (GRCm39) |
V402L |
probably benign |
Het |
| Vps13b |
A |
T |
15: 35,674,974 (GRCm39) |
H1698L |
probably damaging |
Het |
| Wnt16 |
T |
G |
6: 22,297,992 (GRCm39) |
V286G |
possibly damaging |
Het |
| Xirp1 |
C |
A |
9: 119,845,533 (GRCm39) |
V1117L |
probably benign |
Het |
| Zfp788 |
C |
T |
7: 41,298,971 (GRCm39) |
H536Y |
probably 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 |
|
|
IGL03069:Calu
|
APN |
6 |
29,356,582 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGGATGGCAAGCTCACCAAGG -3'
(R):5'- CGAGCAGCAACTCATGCAATGAGAC -3'
Sequencing Primer
(F):5'- CTCACCAAGGAGGAGATTGTC -3'
(R):5'- GCAATGAGACTTTTCAACAGGC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation