Incidental Mutation 'R4016:Capn11'
ID |
311964 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Capn11
|
Ensembl Gene |
ENSMUSG00000058626 |
Gene Name |
calpain 11 |
Synonyms |
|
MMRRC Submission |
040847-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4016 (G1)
|
Quality Score |
199 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
45941130-45970251 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 45964682 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 45
(D45V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119679
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120717]
[ENSMUST00000151350]
|
AlphaFold |
Q6J756 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120717
AA Change: D6V
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000113132 Gene: ENSMUSG00000058626 AA Change: D6V
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000151350
AA Change: D45V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000119679 Gene: ENSMUSG00000058626 AA Change: D45V
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_C2
|
94 |
153 |
1.5e-14 |
PFAM |
low complexity region
|
163 |
174 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.4%
|
Validation Efficiency |
100% (49/49) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh8a1 |
G |
A |
10: 21,271,470 (GRCm39) |
V399I |
probably benign |
Het |
Apold1 |
A |
G |
6: 134,960,869 (GRCm39) |
I108V |
probably benign |
Het |
Arpc5 |
G |
A |
1: 152,644,607 (GRCm39) |
|
probably benign |
Het |
Dctpp1 |
G |
A |
7: 126,856,285 (GRCm39) |
R146C |
probably damaging |
Het |
Dlat |
C |
T |
9: 50,560,931 (GRCm39) |
|
probably null |
Het |
Dock10 |
T |
A |
1: 80,584,286 (GRCm39) |
D140V |
probably damaging |
Het |
Dtx3 |
A |
G |
10: 127,027,040 (GRCm39) |
V378A |
probably benign |
Het |
Ezh2 |
A |
G |
6: 47,521,516 (GRCm39) |
I414T |
probably benign |
Het |
Gm1979 |
C |
T |
5: 26,209,604 (GRCm39) |
W41* |
probably null |
Het |
Igf2bp2 |
T |
C |
16: 21,882,426 (GRCm39) |
N425S |
probably damaging |
Het |
Kdm5a |
T |
A |
6: 120,371,067 (GRCm39) |
Y504N |
probably damaging |
Het |
Map3k21 |
T |
A |
8: 126,637,924 (GRCm39) |
I170N |
probably damaging |
Het |
Mrgpra6 |
C |
A |
7: 46,838,463 (GRCm39) |
C245F |
possibly damaging |
Het |
Nipal2 |
T |
G |
15: 34,600,207 (GRCm39) |
K203N |
possibly damaging |
Het |
Nlrp1b |
A |
G |
11: 71,063,911 (GRCm39) |
F621S |
probably damaging |
Het |
Nos3 |
G |
A |
5: 24,576,714 (GRCm39) |
V448M |
probably damaging |
Het |
Ntrk3 |
G |
T |
7: 78,112,695 (GRCm39) |
|
probably benign |
Het |
Or5b118 |
A |
T |
19: 13,448,561 (GRCm39) |
T76S |
possibly damaging |
Het |
P2rx1 |
T |
C |
11: 72,900,799 (GRCm39) |
C190R |
probably damaging |
Het |
Pdzrn4 |
T |
A |
15: 92,297,630 (GRCm39) |
D198E |
probably benign |
Het |
Ptar1 |
A |
G |
19: 23,664,824 (GRCm39) |
M1V |
probably null |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Purg |
T |
A |
8: 33,877,019 (GRCm39) |
L219* |
probably null |
Het |
Rbp3 |
G |
T |
14: 33,677,347 (GRCm39) |
V432L |
possibly damaging |
Het |
Scnn1b |
G |
T |
7: 121,513,555 (GRCm39) |
|
probably null |
Het |
Sgms1 |
A |
G |
19: 32,120,192 (GRCm39) |
V238A |
possibly damaging |
Het |
Slc16a14 |
G |
T |
1: 84,890,228 (GRCm39) |
S359* |
probably null |
Het |
Smarca2 |
G |
A |
19: 26,661,327 (GRCm39) |
|
probably null |
Het |
Spatc1l |
A |
G |
10: 76,398,323 (GRCm39) |
S42G |
probably benign |
Het |
Stra6 |
T |
A |
9: 58,042,473 (GRCm39) |
V34E |
probably damaging |
Het |
Tex14 |
A |
G |
11: 87,429,449 (GRCm39) |
|
probably null |
Het |
Tox4 |
T |
C |
14: 52,523,361 (GRCm39) |
|
probably null |
Het |
Tyr |
A |
G |
7: 87,087,148 (GRCm39) |
S455P |
probably benign |
Het |
Uggt2 |
T |
C |
14: 119,263,845 (GRCm39) |
N1062D |
possibly damaging |
Het |
Umod |
A |
C |
7: 119,075,913 (GRCm39) |
N284K |
possibly damaging |
Het |
Unc93b1 |
T |
C |
19: 3,993,572 (GRCm39) |
I338T |
probably damaging |
Het |
Vmn2r99 |
C |
T |
17: 19,598,832 (GRCm39) |
T172I |
possibly damaging |
Het |
Whrn |
G |
A |
4: 63,333,876 (GRCm39) |
Q415* |
probably null |
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 |
|
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 |
R4892:Capn11
|
UTSW |
17 |
45,944,023 (GRCm39) |
frame shift |
probably null |
|
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'- CCCAGGTTCTTGACACCGATAG -3'
(R):5'- CTCAGGCACACAAGCAAGTG -3'
Sequencing Primer
(F):5'- AGGTTCTTGACACCGATAGACCTG -3'
(R):5'- CACAAGCAAGTGCACATAAAAGTAAG -3'
|
Posted On |
2015-04-29 |