Incidental Mutation 'IGL02469:Caml'
| ID |
294661 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Caml
|
| Ensembl Gene |
ENSMUSG00000021501 |
| Gene Name |
calcium modulating ligand |
| Synonyms |
Caml |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02469
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
55770818-55780224 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55776390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 210
(S210P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021963]
|
| AlphaFold |
P49070 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021963
AA Change: S210P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021963
Gene: ENSMUSG00000021501
AA Change: S210P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAML
|
21 |
290 |
8.8e-143 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165154
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169228
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The immunosuppressant drug cyclosporin A blocks a calcium-dependent signal from the T-cell receptor (TCR) that normally leads to T-cell activation. When bound to cyclophilin B, cyclosporin A binds and inactivates the key signaling intermediate calcineurin. The protein encoded by this gene functions similarly to cyclosporin A, binding to cyclophilin B and acting downstream of the TCR and upstream of calcineurin by causing an influx of calcium. This integral membrane protein appears to be a new participant in the calcium signal transduction pathway, implicating cyclophilin B in calcium signaling, even in the absence of cyclosporin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice lacking both functional copies of this gene die during early gestation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,645,074 (GRCm39) |
Q975L |
probably damaging |
Het |
| Acad10 |
T |
C |
5: 121,783,522 (GRCm39) |
Y301C |
probably damaging |
Het |
| Akr7a5 |
T |
A |
4: 139,041,492 (GRCm39) |
S134T |
probably damaging |
Het |
| Aldh4a1 |
C |
T |
4: 139,375,472 (GRCm39) |
T527I |
probably damaging |
Het |
| Atf2 |
A |
G |
2: 73,676,676 (GRCm39) |
V146A |
probably damaging |
Het |
| C2cd6 |
A |
T |
1: 59,036,640 (GRCm39) |
|
probably benign |
Het |
| Casp1 |
A |
C |
9: 5,303,105 (GRCm39) |
R186S |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cdhr1 |
T |
A |
14: 36,807,557 (GRCm39) |
Q361L |
possibly damaging |
Het |
| Chrna3 |
T |
A |
9: 54,923,290 (GRCm39) |
T173S |
probably benign |
Het |
| Commd6 |
A |
G |
14: 101,874,463 (GRCm39) |
V47A |
probably damaging |
Het |
| Dmrtc2 |
T |
C |
7: 24,572,138 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
T |
C |
9: 106,863,215 (GRCm39) |
D721G |
probably damaging |
Het |
| Dpp10 |
T |
C |
1: 123,339,532 (GRCm39) |
S332G |
probably benign |
Het |
| Dst |
A |
G |
1: 34,227,909 (GRCm39) |
E1834G |
probably damaging |
Het |
| Espl1 |
T |
A |
15: 102,222,460 (GRCm39) |
L1034Q |
probably damaging |
Het |
| Gtf2ird2 |
C |
T |
5: 134,220,088 (GRCm39) |
T22M |
probably damaging |
Het |
| Hyal2 |
T |
C |
9: 107,449,411 (GRCm39) |
L389P |
probably damaging |
Het |
| Lipa |
T |
C |
19: 34,471,435 (GRCm39) |
D380G |
probably damaging |
Het |
| Marchf5 |
T |
G |
19: 37,194,674 (GRCm39) |
W111G |
probably damaging |
Het |
| Or8h7 |
T |
C |
2: 86,721,499 (GRCm39) |
T7A |
possibly damaging |
Het |
| Pfkfb2 |
A |
T |
1: 130,627,774 (GRCm39) |
I391N |
probably damaging |
Het |
| Sec31a |
T |
C |
5: 100,533,114 (GRCm39) |
S544G |
probably benign |
Het |
| Slc26a9 |
A |
G |
1: 131,690,674 (GRCm39) |
K530E |
probably damaging |
Het |
| Spaca3 |
G |
A |
11: 80,754,911 (GRCm39) |
|
probably null |
Het |
| Syne3 |
T |
C |
12: 104,920,565 (GRCm39) |
S544G |
probably benign |
Het |
| Tctn3 |
T |
C |
19: 40,585,967 (GRCm39) |
E526G |
probably benign |
Het |
| Tll1 |
A |
T |
8: 64,523,314 (GRCm39) |
I466K |
probably benign |
Het |
| Ttbk1 |
A |
G |
17: 46,781,556 (GRCm39) |
V399A |
possibly damaging |
Het |
| Vmn1r47 |
T |
C |
6: 89,999,435 (GRCm39) |
L189P |
probably damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,751,547 (GRCm39) |
L530* |
probably null |
Het |
| Yipf3 |
T |
C |
17: 46,561,384 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Caml |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02961:Caml
|
APN |
13 |
55,779,695 (GRCm39) |
missense |
probably benign |
0.08 |
|
H8786:Caml
|
UTSW |
13 |
55,776,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0542:Caml
|
UTSW |
13 |
55,770,974 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0673:Caml
|
UTSW |
13 |
55,779,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1106:Caml
|
UTSW |
13 |
55,772,538 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1171:Caml
|
UTSW |
13 |
55,772,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1661:Caml
|
UTSW |
13 |
55,779,784 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1665:Caml
|
UTSW |
13 |
55,779,784 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4613:Caml
|
UTSW |
13 |
55,772,955 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4774:Caml
|
UTSW |
13 |
55,779,740 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5945:Caml
|
UTSW |
13 |
55,776,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6247:Caml
|
UTSW |
13 |
55,772,986 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6433:Caml
|
UTSW |
13 |
55,771,062 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7973:Caml
|
UTSW |
13 |
55,779,784 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9360:Caml
|
UTSW |
13 |
55,771,030 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9660:Caml
|
UTSW |
13 |
55,779,670 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9728:Caml
|
UTSW |
13 |
55,779,670 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2015-04-16 |
Incidental Mutation