Incidental Mutation 'R7675:Calu'
| ID |
592417 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Calu
|
| Ensembl Gene |
ENSMUSG00000029767 |
| Gene Name |
calumenin |
| Synonyms |
9530075H20Rik |
| MMRRC Submission |
045706-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.536)
|
| Stock # |
R7675 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29348105-29376674 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 29356516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 14
(T14I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031779
(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: T14I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031779
Gene: ENSMUSG00000029767
AA Change: T14I
| 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: T14I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000087967
Gene: ENSMUSG00000029767
AA Change: T14I
| 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: T14I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000133390
Gene: ENSMUSG00000029767
AA Change: T14I
| 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 |
probably benign
Transcript: ENSMUST00000173694
AA Change: T14I
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000133436
Gene: ENSMUSG00000029767
AA Change: T14I
| 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: T16I
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000133945
Gene: ENSMUSG00000029767
AA Change: T16I
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
97% (28/29) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010109A12Rik |
T |
C |
5: 93,361,233 (GRCm39) |
S96P |
unknown |
Het |
| Acaca |
A |
G |
11: 84,206,742 (GRCm39) |
E1534G |
probably benign |
Het |
| Adam7 |
A |
T |
14: 68,737,302 (GRCm39) |
D773E |
probably benign |
Het |
| Cacna1s |
T |
A |
1: 136,038,612 (GRCm39) |
I1398N |
probably damaging |
Het |
| Casp8 |
A |
G |
1: 58,863,106 (GRCm39) |
D2G |
possibly damaging |
Het |
| Cldn1 |
T |
C |
16: 26,190,261 (GRCm39) |
N39S |
probably benign |
Het |
| Clspn |
T |
C |
4: 126,460,113 (GRCm39) |
S447P |
probably benign |
Het |
| Eef2k |
A |
G |
7: 120,457,727 (GRCm39) |
T29A |
probably benign |
Het |
| Gm5519 |
G |
C |
19: 33,802,428 (GRCm39) |
G157A |
probably benign |
Het |
| Gucy2c |
A |
G |
6: 136,693,030 (GRCm39) |
V723A |
possibly damaging |
Het |
| Ighv1-69 |
A |
T |
12: 115,587,209 (GRCm39) |
W3R |
probably damaging |
Het |
| Inava |
G |
T |
1: 136,143,741 (GRCm39) |
A565E |
probably benign |
Het |
| Krtap16-1 |
A |
G |
11: 99,876,259 (GRCm39) |
C382R |
possibly damaging |
Het |
| Lrrc8a |
G |
A |
2: 30,145,680 (GRCm39) |
D165N |
probably damaging |
Het |
| Mideas |
G |
T |
12: 84,220,574 (GRCm39) |
P127T |
probably damaging |
Het |
| Naaladl2 |
T |
A |
3: 24,605,816 (GRCm39) |
M148L |
probably benign |
Het |
| Nphp3 |
A |
T |
9: 103,893,287 (GRCm39) |
E424D |
probably benign |
Het |
| Prpf40a |
T |
C |
2: 53,035,648 (GRCm39) |
K714R |
possibly damaging |
Het |
| Ptpn23 |
A |
T |
9: 110,216,094 (GRCm39) |
L1254* |
probably null |
Het |
| Sap30l |
A |
G |
11: 57,700,867 (GRCm39) |
K174E |
probably damaging |
Het |
| Serpinb9d |
C |
T |
13: 33,386,759 (GRCm39) |
Q276* |
probably null |
Het |
| Sp140l2 |
C |
T |
1: 85,224,736 (GRCm39) |
M266I |
probably benign |
Het |
| Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
| Tex14 |
A |
G |
11: 87,400,504 (GRCm39) |
D432G |
probably damaging |
Het |
| Tmsb10b |
A |
T |
7: 24,561,784 (GRCm39) |
T28S |
probably benign |
Het |
| Unc119 |
G |
A |
11: 78,234,423 (GRCm39) |
G11R |
probably damaging |
Het |
| Usp36 |
A |
G |
11: 118,154,522 (GRCm39) |
V965A |
probably benign |
Het |
| Vmn2r4 |
A |
T |
3: 64,322,657 (GRCm39) |
Y21N |
probably benign |
Het |
| Zbtb38 |
G |
T |
9: 96,567,594 (GRCm39) |
D1163E |
probably benign |
Het |
| Zfp62 |
A |
G |
11: 49,106,847 (GRCm39) |
I313V |
possibly damaging |
Het |
| Zfp980 |
C |
T |
4: 145,428,164 (GRCm39) |
Q298* |
probably null |
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 |
|
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 |
|
|
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'- TGATGGCCTACTGTGCTTACC -3'
(R):5'- TGGTCAAGAACAGACATCTTACCC -3'
Sequencing Primer
(F):5'- GATGGCCTACTGTGCTTACCTTAAG -3'
(R):5'- AGACATCTTACCCAAGCCTTTC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation