Incidental Mutation 'IGL02926:Calu'
ID |
363867 |
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 # |
IGL02926
|
Quality Score |
|
Status
|
|
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 |
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
A |
T |
6: 85,618,432 (GRCm39) |
D2826V |
probably damaging |
Het |
Alpl |
C |
T |
4: 137,469,945 (GRCm39) |
A460T |
probably damaging |
Het |
C2cd5 |
A |
G |
6: 142,976,963 (GRCm39) |
|
probably benign |
Het |
C4b |
C |
T |
17: 34,949,686 (GRCm39) |
R1468Q |
possibly damaging |
Het |
Cgn |
T |
C |
3: 94,685,326 (GRCm39) |
K399R |
probably benign |
Het |
Ciao3 |
A |
G |
17: 26,001,128 (GRCm39) |
H460R |
probably benign |
Het |
Cyp2t4 |
G |
A |
7: 26,857,228 (GRCm39) |
V356M |
probably damaging |
Het |
D430041D05Rik |
T |
C |
2: 104,044,604 (GRCm39) |
D683G |
probably damaging |
Het |
Dhcr24 |
T |
A |
4: 106,443,552 (GRCm39) |
I410N |
probably damaging |
Het |
Dmap1 |
T |
A |
4: 117,539,085 (GRCm39) |
E17V |
probably benign |
Het |
Dnaaf9 |
C |
T |
2: 130,554,286 (GRCm39) |
R921K |
probably benign |
Het |
Dnah7a |
A |
G |
1: 53,535,109 (GRCm39) |
I2717T |
possibly damaging |
Het |
Epb41l3 |
G |
T |
17: 69,554,741 (GRCm39) |
K280N |
probably damaging |
Het |
Espl1 |
T |
A |
15: 102,208,290 (GRCm39) |
M432K |
probably damaging |
Het |
Fgf5 |
C |
A |
5: 98,409,874 (GRCm39) |
A141E |
probably damaging |
Het |
Fto |
T |
A |
8: 92,211,795 (GRCm39) |
F373L |
probably damaging |
Het |
Gpatch1 |
T |
C |
7: 35,007,694 (GRCm39) |
D122G |
probably damaging |
Het |
Ints11 |
T |
C |
4: 155,972,568 (GRCm39) |
|
probably null |
Het |
Jarid2 |
A |
G |
13: 45,056,405 (GRCm39) |
Q398R |
probably benign |
Het |
Kcnh1 |
A |
G |
1: 191,959,208 (GRCm39) |
D254G |
probably damaging |
Het |
Lamc3 |
C |
T |
2: 31,825,737 (GRCm39) |
|
probably benign |
Het |
Lamc3 |
C |
T |
2: 31,825,738 (GRCm39) |
|
probably benign |
Het |
Ltbp4 |
T |
C |
7: 27,028,297 (GRCm39) |
|
probably null |
Het |
Mcm6 |
A |
G |
1: 128,267,119 (GRCm39) |
Y575H |
probably damaging |
Het |
Myh9 |
A |
C |
15: 77,671,826 (GRCm39) |
Y422D |
probably damaging |
Het |
Or4c35 |
T |
C |
2: 89,808,506 (GRCm39) |
L128P |
probably damaging |
Het |
Or5b105 |
A |
C |
19: 13,080,187 (GRCm39) |
N160K |
possibly damaging |
Het |
Or8b47 |
T |
C |
9: 38,435,021 (GRCm39) |
|
probably benign |
Het |
Plcb1 |
T |
C |
2: 135,206,682 (GRCm39) |
|
probably benign |
Het |
Pmfbp1 |
A |
G |
8: 110,246,881 (GRCm39) |
E251G |
probably damaging |
Het |
Psg27 |
A |
T |
7: 18,291,054 (GRCm39) |
V383E |
probably damaging |
Het |
Ptprn |
A |
T |
1: 75,224,517 (GRCm39) |
H946Q |
possibly damaging |
Het |
Rbl1 |
A |
G |
2: 157,009,333 (GRCm39) |
V734A |
probably benign |
Het |
Rspry1 |
T |
A |
8: 95,376,439 (GRCm39) |
N320K |
probably damaging |
Het |
Ryr1 |
A |
T |
7: 28,760,965 (GRCm39) |
V3219D |
probably damaging |
Het |
Ryr2 |
C |
A |
13: 11,774,721 (GRCm39) |
W1145L |
probably damaging |
Het |
Scel |
A |
T |
14: 103,813,683 (GRCm39) |
R319* |
probably null |
Het |
Stxbp2 |
C |
T |
8: 3,685,629 (GRCm39) |
T226I |
probably benign |
Het |
Tac1 |
A |
T |
6: 7,562,410 (GRCm39) |
N106I |
possibly damaging |
Het |
Trim13 |
G |
T |
14: 61,842,693 (GRCm39) |
|
probably null |
Het |
Tspan31 |
T |
G |
10: 126,904,778 (GRCm39) |
|
probably null |
Het |
Usp36 |
C |
T |
11: 118,155,609 (GRCm39) |
V723M |
probably benign |
Het |
Utrn |
A |
T |
10: 12,566,504 (GRCm39) |
N1219K |
probably damaging |
Het |
Vcan |
G |
T |
13: 89,836,742 (GRCm39) |
T2934K |
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 |
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 |
2015-12-18 |