Incidental Mutation 'R1106:Caml'
| ID |
98492 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Caml
|
| Ensembl Gene |
ENSMUSG00000021501 |
| Gene Name |
calcium modulating ligand |
| Synonyms |
Caml |
| MMRRC Submission |
039179-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1106 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
55770818-55780224 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55772538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 61
(T61A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021963]
|
| AlphaFold |
P49070 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021963
AA Change: T61A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000021963
Gene: ENSMUSG00000021501
AA Change: T61A
| 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 |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asic5 |
C |
A |
3: 81,911,897 (GRCm39) |
F122L |
probably damaging |
Het |
| Cfap20 |
A |
T |
8: 96,147,873 (GRCm39) |
I156N |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Dio2 |
A |
G |
12: 90,704,985 (GRCm39) |
L25P |
probably damaging |
Het |
| Eps8 |
G |
A |
6: 137,491,322 (GRCm39) |
P352L |
probably damaging |
Het |
| Gnai2 |
A |
G |
9: 107,497,385 (GRCm39) |
I3T |
probably damaging |
Het |
| Hexim2 |
T |
C |
11: 103,029,319 (GRCm39) |
S124P |
probably damaging |
Het |
| Klk1b16 |
C |
T |
7: 43,788,937 (GRCm39) |
R57C |
probably damaging |
Het |
| Mier3 |
A |
T |
13: 111,844,763 (GRCm39) |
D205V |
probably damaging |
Het |
| Or2y14 |
A |
G |
11: 49,404,519 (GRCm39) |
D18G |
probably damaging |
Het |
| Or4c102 |
T |
C |
2: 88,422,355 (GRCm39) |
V69A |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 22,965,748 (GRCm39) |
D192G |
probably damaging |
Het |
| Samd3 |
G |
A |
10: 26,147,689 (GRCm39) |
V455M |
possibly damaging |
Het |
| Slc9c1 |
C |
A |
16: 45,376,170 (GRCm39) |
Q419K |
possibly damaging |
Het |
| Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
| Tas2r139 |
A |
G |
6: 42,118,479 (GRCm39) |
T204A |
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,643,180 (GRCm39) |
E4181K |
possibly damaging |
Het |
| Vps37a |
T |
A |
8: 40,965,247 (GRCm39) |
I33N |
probably damaging |
Het |
| Zfp335 |
TTGCTGCTGCTGCTGCTGCT |
TTGCTGCTGCTGCTGCT |
2: 164,749,471 (GRCm39) |
|
probably benign |
Het |
| Zik1 |
G |
A |
7: 10,224,312 (GRCm39) |
R262C |
probably damaging |
Het |
|
| Other mutations in Caml |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02469:Caml
|
APN |
13 |
55,776,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTTGGGACATCCCGTGCTAAC -3'
(R):5'- GAATGAGTCCAGTTTGTCTCCCAGC -3'
Sequencing Primer
(F):5'- ACATCCCGTGCTAACTTTGGTAG -3'
(R):5'- AGCTGGGTTCCCCTGAC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation