Incidental Mutation 'R4892:Capn11'
ID |
377364 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Capn11
|
Ensembl Gene |
ENSMUSG00000058626 |
Gene Name |
calpain 11 |
Synonyms |
|
MMRRC Submission |
042497-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4892 (G1)
|
Quality Score |
217 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
45941130-45970251 bp(-) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
GACA to GA
at 45944023 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113132
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120717]
|
AlphaFold |
Q6J756 |
Predicted Effect |
probably null
Transcript: ENSMUST00000120717
|
SMART Domains |
Protein: ENSMUSP00000113132 Gene: ENSMUSG00000058626
Domain | Start | End | E-Value | Type |
CysPc
|
37 |
362 |
2.75e-157 |
SMART |
calpain_III
|
366 |
523 |
2.57e-84 |
SMART |
EFh
|
590 |
618 |
3.91e-4 |
SMART |
EFh
|
620 |
648 |
6.88e-1 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calpains constitute a family of intracellular calcium-dependent cysteine proteases. There are eight members in this superfamily. They consist of a variable 80 kDa subunit and an invariant 30 kDa subunit. This calpain protein appears to have protease activity and calcium-binding ability. A similar mouse protein may play a functional role in spermatogenesis and in the regulation of calcium-dependent signal transduction events during meiosis. [provided by RefSeq, Dec 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
T |
C |
8: 87,236,431 (GRCm39) |
T1128A |
probably benign |
Het |
Apol11a |
A |
T |
15: 77,401,190 (GRCm39) |
K226* |
probably null |
Het |
Atp4a |
A |
G |
7: 30,411,899 (GRCm39) |
M45V |
probably benign |
Het |
Babam1 |
T |
A |
8: 71,855,696 (GRCm39) |
M263K |
probably benign |
Het |
Ccdc190 |
C |
A |
1: 169,757,678 (GRCm39) |
L46I |
possibly damaging |
Het |
Cep131 |
C |
T |
11: 119,958,883 (GRCm39) |
R717H |
probably damaging |
Het |
Cpt1c |
A |
G |
7: 44,609,012 (GRCm39) |
F770L |
probably benign |
Het |
Dhx30 |
A |
T |
9: 109,914,924 (GRCm39) |
|
probably null |
Het |
Dido1 |
G |
A |
2: 180,316,822 (GRCm39) |
Q662* |
probably null |
Het |
Dip2a |
T |
C |
10: 76,116,593 (GRCm39) |
E910G |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Fmo3 |
T |
A |
1: 162,796,300 (GRCm39) |
I91F |
probably benign |
Het |
Gdap1 |
A |
C |
1: 17,230,218 (GRCm39) |
D217A |
possibly damaging |
Het |
Grm1 |
T |
C |
10: 10,595,331 (GRCm39) |
S766G |
possibly damaging |
Het |
Kat8 |
T |
A |
7: 127,514,710 (GRCm39) |
I123N |
possibly damaging |
Het |
Kcnt2 |
C |
A |
1: 140,440,763 (GRCm39) |
S23* |
probably null |
Het |
Krt73 |
G |
A |
15: 101,704,244 (GRCm39) |
T432I |
probably damaging |
Het |
Lgals9 |
T |
A |
11: 78,856,909 (GRCm39) |
I223L |
probably benign |
Het |
Mpo |
T |
A |
11: 87,693,507 (GRCm39) |
N48K |
probably benign |
Het |
Myo9a |
T |
G |
9: 59,731,525 (GRCm39) |
H632Q |
probably damaging |
Het |
Or2y1c |
C |
A |
11: 49,361,043 (GRCm39) |
Q22K |
probably benign |
Het |
Or9s27 |
A |
G |
1: 92,516,643 (GRCm39) |
N197S |
probably benign |
Het |
Prelid2 |
A |
G |
18: 42,084,209 (GRCm39) |
F11S |
possibly damaging |
Het |
Setd1a |
G |
T |
7: 127,377,696 (GRCm39) |
V57L |
probably damaging |
Het |
Sgip1 |
A |
G |
4: 102,823,431 (GRCm39) |
D704G |
probably damaging |
Het |
Spryd3 |
T |
C |
15: 102,026,537 (GRCm39) |
E378G |
probably benign |
Het |
Stk17b |
A |
T |
1: 53,810,770 (GRCm39) |
Y112N |
probably damaging |
Het |
Syndig1 |
A |
T |
2: 149,741,811 (GRCm39) |
K132N |
probably damaging |
Het |
Tcf20 |
C |
T |
15: 82,738,400 (GRCm39) |
R1017Q |
possibly damaging |
Het |
Tenm3 |
T |
A |
8: 48,729,896 (GRCm39) |
D1370V |
probably damaging |
Het |
Tnrc6a |
C |
T |
7: 122,769,134 (GRCm39) |
T308I |
probably damaging |
Het |
Ttc29 |
T |
C |
8: 79,060,274 (GRCm39) |
V398A |
probably damaging |
Het |
Ubr4 |
A |
G |
4: 139,155,828 (GRCm39) |
T2218A |
probably benign |
Het |
|
Other mutations in Capn11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00339:Capn11
|
APN |
17 |
45,954,693 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01116:Capn11
|
APN |
17 |
45,949,806 (GRCm39) |
unclassified |
probably benign |
|
IGL01121:Capn11
|
APN |
17 |
45,950,058 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01366:Capn11
|
APN |
17 |
45,964,126 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01533:Capn11
|
APN |
17 |
45,943,830 (GRCm39) |
missense |
probably benign |
|
IGL01595:Capn11
|
APN |
17 |
45,950,360 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02197:Capn11
|
APN |
17 |
45,950,782 (GRCm39) |
missense |
probably benign |
0.14 |
IGL02683:Capn11
|
APN |
17 |
45,964,517 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02696:Capn11
|
APN |
17 |
45,943,635 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02711:Capn11
|
APN |
17 |
45,943,341 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02900:Capn11
|
APN |
17 |
45,941,540 (GRCm39) |
splice site |
probably null |
|
IGL03033:Capn11
|
APN |
17 |
45,953,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R0883:Capn11
|
UTSW |
17 |
45,949,807 (GRCm39) |
unclassified |
probably benign |
|
R1494:Capn11
|
UTSW |
17 |
45,954,735 (GRCm39) |
missense |
probably damaging |
1.00 |
R1735:Capn11
|
UTSW |
17 |
45,943,327 (GRCm39) |
nonsense |
probably null |
|
R1785:Capn11
|
UTSW |
17 |
45,949,623 (GRCm39) |
missense |
probably benign |
0.02 |
R1952:Capn11
|
UTSW |
17 |
45,953,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R2149:Capn11
|
UTSW |
17 |
45,944,033 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2397:Capn11
|
UTSW |
17 |
45,964,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R2495:Capn11
|
UTSW |
17 |
45,949,689 (GRCm39) |
missense |
probably damaging |
0.97 |
R2516:Capn11
|
UTSW |
17 |
45,944,725 (GRCm39) |
missense |
probably damaging |
0.98 |
R3934:Capn11
|
UTSW |
17 |
45,945,213 (GRCm39) |
splice site |
probably benign |
|
R4016:Capn11
|
UTSW |
17 |
45,964,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R4226:Capn11
|
UTSW |
17 |
45,953,392 (GRCm39) |
critical splice donor site |
probably null |
|
R4227:Capn11
|
UTSW |
17 |
45,953,392 (GRCm39) |
critical splice donor site |
probably null |
|
R4774:Capn11
|
UTSW |
17 |
45,944,006 (GRCm39) |
missense |
probably benign |
0.00 |
R5244:Capn11
|
UTSW |
17 |
45,944,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R5667:Capn11
|
UTSW |
17 |
45,950,600 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5671:Capn11
|
UTSW |
17 |
45,950,600 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5991:Capn11
|
UTSW |
17 |
45,970,278 (GRCm39) |
splice site |
probably null |
|
R6180:Capn11
|
UTSW |
17 |
45,941,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R6193:Capn11
|
UTSW |
17 |
45,964,430 (GRCm39) |
critical splice donor site |
probably null |
|
R6774:Capn11
|
UTSW |
17 |
45,968,256 (GRCm39) |
intron |
probably benign |
|
R7047:Capn11
|
UTSW |
17 |
45,949,622 (GRCm39) |
nonsense |
probably null |
|
R7302:Capn11
|
UTSW |
17 |
45,954,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R7516:Capn11
|
UTSW |
17 |
45,949,766 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7563:Capn11
|
UTSW |
17 |
45,944,891 (GRCm39) |
missense |
probably damaging |
0.99 |
R7718:Capn11
|
UTSW |
17 |
45,954,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R7999:Capn11
|
UTSW |
17 |
45,950,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R8058:Capn11
|
UTSW |
17 |
45,954,681 (GRCm39) |
missense |
probably null |
1.00 |
R8194:Capn11
|
UTSW |
17 |
45,944,325 (GRCm39) |
missense |
probably damaging |
0.96 |
R8737:Capn11
|
UTSW |
17 |
45,943,801 (GRCm39) |
missense |
probably benign |
0.01 |
R8989:Capn11
|
UTSW |
17 |
45,954,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R9037:Capn11
|
UTSW |
17 |
45,950,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCGCCATCCTAGGAGAAAC -3'
(R):5'- TCTCCAAGAGGTAACAGGAAGC -3'
Sequencing Primer
(F):5'- TTCGCCATCCTAGGAGAAACAGATG -3'
(R):5'- CAAGACAGGGTTTCTCTGTATAGCC -3'
|
Posted On |
2016-03-17 |