Incidental Mutation 'R1080:Calu'
| ID |
85821 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Calu
|
| Ensembl Gene |
ENSMUSG00000029767 |
| Gene Name |
calumenin |
| Synonyms |
9530075H20Rik |
| MMRRC Submission |
039166-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.536)
|
| Stock # |
R1080 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
29348105-29376674 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29366919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 44
(T44A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134708
(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: T196A
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000031779
Gene: ENSMUSG00000029767
AA Change: T196A
| 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 |
possibly damaging
Transcript: ENSMUST00000090481
AA Change: T196A
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000087967
Gene: ENSMUSG00000029767
AA Change: T196A
| 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 |
unknown
Transcript: ENSMUST00000156163
AA Change: T66A
|
| SMART Domains |
Protein: ENSMUSP00000133615
Gene: ENSMUSG00000029767
AA Change: T66A
| 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: T196A
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000133390
Gene: ENSMUSG00000029767
AA Change: T196A
| 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 |
possibly damaging
Transcript: ENSMUST00000173216
AA Change: T44A
PolyPhen 2
Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000134708
Gene: ENSMUSG00000029767
AA Change: T44A
| 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 |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.2%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
A |
G |
7: 27,265,109 (GRCm39) |
N87S |
probably benign |
Het |
| Agbl3 |
A |
T |
6: 34,805,170 (GRCm39) |
N679I |
probably benign |
Het |
| Akp3 |
T |
A |
1: 87,054,723 (GRCm39) |
F353I |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,042,404 (GRCm39) |
T2797A |
probably damaging |
Het |
| Cd180 |
G |
A |
13: 102,842,728 (GRCm39) |
W591* |
probably null |
Het |
| Cnbd2 |
A |
G |
2: 156,181,193 (GRCm39) |
N209S |
probably benign |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fam136b-ps |
T |
C |
15: 31,276,739 (GRCm39) |
|
probably benign |
Het |
| Fbln5 |
A |
T |
12: 101,717,131 (GRCm39) |
M419K |
possibly damaging |
Het |
| Galr1 |
A |
C |
18: 82,423,632 (GRCm39) |
I215S |
probably damaging |
Het |
| Kcnma1 |
G |
C |
14: 23,544,675 (GRCm39) |
Q436E |
probably damaging |
Het |
| Khsrp |
GTCATT |
GT |
17: 57,331,410 (GRCm39) |
|
probably null |
Het |
| Klhdc8b |
T |
C |
9: 108,326,837 (GRCm39) |
N175S |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,557,892 (GRCm39) |
V76A |
probably benign |
Het |
| Mnat1 |
T |
C |
12: 73,319,292 (GRCm39) |
F305S |
probably damaging |
Het |
| Nck2 |
T |
C |
1: 43,572,741 (GRCm39) |
V5A |
probably benign |
Het |
| Nkd1 |
T |
A |
8: 89,318,647 (GRCm39) |
M428K |
probably benign |
Het |
| Or4e5 |
A |
T |
14: 52,728,042 (GRCm39) |
Y43* |
probably null |
Het |
| Pcdh7 |
T |
C |
5: 57,876,768 (GRCm39) |
C108R |
probably damaging |
Het |
| Rtf2 |
G |
T |
2: 172,310,666 (GRCm39) |
W299L |
probably damaging |
Het |
| Smtn |
C |
A |
11: 3,467,693 (GRCm39) |
R942L |
probably damaging |
Het |
| Svil |
C |
T |
18: 5,058,147 (GRCm39) |
P265S |
possibly damaging |
Het |
| Tdrd3 |
T |
C |
14: 87,743,834 (GRCm39) |
L588P |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,153,747 (GRCm39) |
Y169H |
probably damaging |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Tmprss2 |
G |
A |
16: 97,392,698 (GRCm39) |
S83L |
probably benign |
Het |
| Tut4 |
A |
G |
4: 108,336,696 (GRCm39) |
E140G |
possibly damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,837,980 (GRCm39) |
S814P |
probably damaging |
Het |
| Zfp386 |
T |
A |
12: 116,023,426 (GRCm39) |
C381* |
probably null |
Het |
| Zfp809 |
T |
G |
9: 22,146,405 (GRCm39) |
D31E |
probably damaging |
Het |
| Zfy2 |
T |
A |
Y: 2,121,645 (GRCm39) |
T83S |
probably benign |
Het |
| Zswim6 |
A |
G |
13: 107,924,186 (GRCm39) |
|
noncoding transcript |
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 |
|
|
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'- GCTTGGGAATGAACACTGGTCCTC -3'
(R):5'- TTGCCACATCAGTCTGTCTGAACC -3'
Sequencing Primer
(F):5'- CTTTgaacctcctgtctctgacc -3'
(R):5'- agaaaccctgtctcaaaaaacc -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation