Incidental Mutation 'R4226:Capn11'
ID |
320058 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Capn11
|
Ensembl Gene |
ENSMUSG00000058626 |
Gene Name |
calpain 11 |
Synonyms |
|
MMRRC Submission |
041046-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4226 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
45941130-45970251 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 45953392 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113132
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120717]
[ENSMUST00000151350]
|
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 |
|
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 |
|
Meta Mutation Damage Score |
0.9479 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930449I24Rik |
T |
A |
5: 146,441,690 (GRCm39) |
V279E |
possibly damaging |
Het |
Ache |
T |
C |
5: 137,289,152 (GRCm39) |
V286A |
possibly damaging |
Het |
Amotl1 |
T |
C |
9: 14,504,974 (GRCm39) |
N115S |
probably benign |
Het |
Aoah |
A |
T |
13: 21,163,696 (GRCm39) |
Y333F |
possibly damaging |
Het |
Ap4m1 |
A |
T |
5: 138,171,079 (GRCm39) |
R74* |
probably null |
Het |
Arhgef5 |
C |
T |
6: 43,256,432 (GRCm39) |
A1180V |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,926,835 (GRCm39) |
|
probably null |
Het |
Ccdc146 |
T |
A |
5: 21,527,756 (GRCm39) |
I187L |
probably benign |
Het |
Cfh |
A |
T |
1: 140,036,664 (GRCm39) |
C360S |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,050,490 (GRCm39) |
N2249D |
probably damaging |
Het |
Cyb5r4 |
T |
G |
9: 86,939,282 (GRCm39) |
I355S |
probably damaging |
Het |
Dnm1l |
A |
T |
16: 16,132,251 (GRCm39) |
H653Q |
possibly damaging |
Het |
Frmd4a |
C |
T |
2: 4,337,889 (GRCm39) |
R32C |
probably benign |
Het |
Gm16503 |
C |
T |
4: 147,625,725 (GRCm39) |
S73L |
unknown |
Het |
Hnrnpll |
A |
T |
17: 80,357,234 (GRCm39) |
|
probably null |
Het |
Igf1r |
T |
A |
7: 67,844,826 (GRCm39) |
Y866* |
probably null |
Het |
Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
Mc1r |
A |
G |
8: 124,134,595 (GRCm39) |
N116S |
possibly damaging |
Het |
Micu2 |
T |
C |
14: 58,169,742 (GRCm39) |
K203E |
possibly damaging |
Het |
Mybpc1 |
C |
T |
10: 88,409,387 (GRCm39) |
W36* |
probably null |
Het |
Nsd1 |
C |
T |
13: 55,408,214 (GRCm39) |
T1286I |
probably damaging |
Het |
Or2a56 |
A |
G |
6: 42,932,689 (GRCm39) |
T86A |
probably benign |
Het |
Or51l14 |
T |
C |
7: 103,100,784 (GRCm39) |
M80T |
probably benign |
Het |
Pnpla3 |
C |
A |
15: 84,063,391 (GRCm39) |
N256K |
probably benign |
Het |
Polh |
A |
G |
17: 46,483,520 (GRCm39) |
S582P |
probably benign |
Het |
Rnaseh2a |
G |
A |
8: 85,686,702 (GRCm39) |
T149I |
possibly damaging |
Het |
Ryr1 |
A |
C |
7: 28,761,576 (GRCm39) |
Y3190* |
probably null |
Het |
Sec31b |
T |
A |
19: 44,520,149 (GRCm39) |
M212L |
probably benign |
Het |
Smc4 |
A |
G |
3: 68,938,800 (GRCm39) |
E950G |
probably benign |
Het |
Tlr1 |
A |
T |
5: 65,083,060 (GRCm39) |
S506T |
probably damaging |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Tmem236 |
G |
T |
2: 14,179,437 (GRCm39) |
E13* |
probably null |
Het |
Tmprss6 |
C |
T |
15: 78,330,899 (GRCm39) |
V43M |
probably damaging |
Het |
Vegfc |
A |
G |
8: 54,612,445 (GRCm39) |
Y156C |
probably damaging |
Het |
Vmn1r39 |
T |
C |
6: 66,781,703 (GRCm39) |
H205R |
possibly damaging |
Het |
Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
Zan |
T |
C |
5: 137,422,240 (GRCm39) |
N2793D |
unknown |
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 |
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'- GCATTATGAGTTACTAAGGGGTCAC -3'
(R):5'- TGACATCTCCTAACAGCGCC -3'
Sequencing Primer
(F):5'- TGAGTTACTAAGGGGTCACAGAAAG -3'
(R):5'- AACAGCGCCCTATCTGCCTG -3'
|
Posted On |
2015-06-12 |