Incidental Mutation 'IGL01121:Capn11'
| ID |
53089 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Capn11
|
| Ensembl Gene |
ENSMUSG00000058626 |
| Gene Name |
calpain 11 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01121
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
45941130-45970251 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45950058 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 369
(S369P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113132
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120717]
[ENSMUST00000151350]
|
| AlphaFold |
Q6J756 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120717
AA Change: S369P
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000113132
Gene: ENSMUSG00000058626
AA Change: S369P
| 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 benign
Transcript: ENSMUST00000151350
|
| SMART Domains |
Protein: ENSMUSP00000119679
Gene: ENSMUSG00000058626
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C2
|
94 |
153 |
1.5e-14 |
PFAM |
|
low complexity region
|
163 |
174 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700046A07Rik |
G |
A |
18: 62,888,219 (GRCm39) |
|
noncoding transcript |
Het |
| 4930432E11Rik |
A |
T |
7: 29,273,426 (GRCm39) |
|
noncoding transcript |
Het |
| Alg3 |
T |
C |
16: 20,429,397 (GRCm39) |
E31G |
probably damaging |
Het |
| Arhgap29 |
A |
G |
3: 121,803,512 (GRCm39) |
E764G |
probably damaging |
Het |
| Atp5mf |
C |
A |
5: 145,121,378 (GRCm39) |
V68L |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,938,033 (GRCm39) |
I2645K |
probably benign |
Het |
| Car4 |
A |
T |
11: 84,855,172 (GRCm39) |
|
probably null |
Het |
| Ccdc185 |
C |
T |
1: 182,576,222 (GRCm39) |
V156I |
probably benign |
Het |
| Cpsf2 |
G |
T |
12: 101,954,965 (GRCm39) |
E245D |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,014,430 (GRCm39) |
D2019G |
probably benign |
Het |
| Dscc1 |
A |
G |
15: 54,945,721 (GRCm39) |
|
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,765,244 (GRCm39) |
D490G |
probably benign |
Het |
| E2f8 |
G |
A |
7: 48,517,569 (GRCm39) |
Q745* |
probably null |
Het |
| Fat3 |
T |
A |
9: 15,909,697 (GRCm39) |
T2102S |
probably benign |
Het |
| Fgf7 |
C |
T |
2: 125,930,152 (GRCm39) |
|
probably benign |
Het |
| Fstl4 |
T |
C |
11: 52,705,464 (GRCm39) |
F47L |
probably benign |
Het |
| Gm15097 |
A |
T |
X: 148,587,324 (GRCm39) |
R129S |
possibly damaging |
Het |
| Gm4297 |
C |
T |
X: 24,418,854 (GRCm39) |
D200N |
probably benign |
Het |
| Itgb5 |
G |
T |
16: 33,740,359 (GRCm39) |
D490Y |
probably benign |
Het |
| Kansl1 |
A |
G |
11: 104,226,422 (GRCm39) |
S912P |
probably benign |
Het |
| Kcnq3 |
A |
T |
15: 65,877,826 (GRCm39) |
|
probably benign |
Het |
| Kctd6 |
A |
G |
14: 8,222,656 (GRCm38) |
H166R |
possibly damaging |
Het |
| Kel |
T |
C |
6: 41,679,343 (GRCm39) |
D140G |
probably benign |
Het |
| Lrif1 |
C |
A |
3: 106,642,980 (GRCm39) |
S177* |
probably null |
Het |
| Lrp1 |
A |
T |
10: 127,419,722 (GRCm39) |
C962* |
probably null |
Het |
| Lypd5 |
A |
T |
7: 24,050,976 (GRCm39) |
Y29F |
probably benign |
Het |
| Mmrn1 |
A |
G |
6: 60,952,928 (GRCm39) |
D403G |
possibly damaging |
Het |
| Nhsl1 |
T |
G |
10: 18,387,458 (GRCm39) |
V244G |
probably damaging |
Het |
| Or6c35 |
T |
C |
10: 129,168,804 (GRCm39) |
I18T |
probably benign |
Het |
| Ptprd |
A |
T |
4: 75,872,438 (GRCm39) |
|
probably benign |
Het |
| Rcan2 |
A |
T |
17: 44,328,775 (GRCm39) |
I69L |
probably damaging |
Het |
| Rprd2 |
A |
G |
3: 95,683,862 (GRCm39) |
L373P |
probably damaging |
Het |
| Slc10a4 |
T |
C |
5: 73,164,929 (GRCm39) |
C174R |
probably damaging |
Het |
| Tas2r134 |
C |
T |
2: 51,518,001 (GRCm39) |
T160I |
probably damaging |
Het |
| Tbc1d19 |
T |
A |
5: 54,054,404 (GRCm39) |
L464* |
probably null |
Het |
| Tmem45a2 |
C |
T |
16: 56,861,153 (GRCm39) |
D225N |
possibly damaging |
Het |
| Unc79 |
G |
A |
12: 103,131,890 (GRCm39) |
C2139Y |
probably damaging |
Het |
| Vmn2r101 |
G |
T |
17: 19,809,936 (GRCm39) |
G241C |
probably damaging |
Het |
| Vmn2r91 |
T |
C |
17: 18,356,766 (GRCm39) |
V811A |
possibly damaging |
Het |
| Wdr11 |
T |
C |
7: 129,229,746 (GRCm39) |
Y844H |
probably benign |
Het |
| Wdr70 |
T |
C |
15: 7,902,655 (GRCm39) |
K656E |
possibly damaging |
Het |
| Zfp579 |
C |
A |
7: 4,996,246 (GRCm39) |
C555F |
possibly damaging |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation