Incidental Mutation 'R6774:Capn11'
| ID |
543586 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capn11
|
| Ensembl Gene |
ENSMUSG00000058626 |
| Gene Name |
calpain 11 |
| Synonyms |
|
| MMRRC Submission |
044890-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6774 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
45941130-45970251 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to T
at 45968256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113132
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113523]
[ENSMUST00000120717]
[ENSMUST00000151350]
|
| AlphaFold |
Q6J756 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113523
|
| SMART Domains |
Protein: ENSMUSP00000109151
Gene: ENSMUSG00000036026
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
40 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
92 |
N/A |
INTRINSIC |
|
Pfam:RSN1_TM
|
101 |
226 |
2.5e-23 |
PFAM |
|
Pfam:PHM7_cyt
|
274 |
344 |
9.1e-10 |
PFAM |
|
Pfam:RSN1_7TM
|
362 |
706 |
5.3e-96 |
PFAM |
|
transmembrane domain
|
711 |
733 |
N/A |
INTRINSIC |
|
low complexity region
|
778 |
805 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
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 |
unknown
Transcript: ENSMUST00000151350
AA Change: D17N
|
| SMART Domains |
Protein: ENSMUSP00000119679
Gene: ENSMUSG00000058626
AA Change: D17N
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (53/54) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,163,908 (GRCm39) |
I822N |
probably damaging |
Het |
| 9930111J21Rik1 |
A |
G |
11: 48,838,143 (GRCm39) |
S815P |
possibly damaging |
Het |
| A430033K04Rik |
A |
G |
5: 138,644,712 (GRCm39) |
Y199C |
probably benign |
Het |
| Adam34l |
T |
A |
8: 44,078,220 (GRCm39) |
H668L |
probably benign |
Het |
| Afap1l1 |
A |
T |
18: 61,888,732 (GRCm39) |
V113E |
probably benign |
Het |
| Ahnak2 |
C |
T |
12: 112,740,172 (GRCm39) |
C494Y |
possibly damaging |
Het |
| Atr |
A |
T |
9: 95,809,266 (GRCm39) |
E1981D |
probably benign |
Het |
| Bmp7 |
A |
G |
2: 172,714,751 (GRCm39) |
Y353H |
probably damaging |
Het |
| Ccdc103 |
T |
C |
11: 102,773,519 (GRCm39) |
F47S |
probably damaging |
Het |
| Cmas |
A |
G |
6: 142,710,147 (GRCm39) |
Y130C |
possibly damaging |
Het |
| Cntn5 |
T |
C |
9: 10,144,222 (GRCm39) |
Y149C |
probably damaging |
Het |
| Col12a1 |
A |
C |
9: 79,613,619 (GRCm39) |
S75R |
possibly damaging |
Het |
| Crat |
G |
A |
2: 30,303,195 (GRCm39) |
H31Y |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,737,810 (GRCm39) |
V41A |
probably benign |
Het |
| F5 |
C |
T |
1: 164,014,447 (GRCm39) |
R573C |
probably damaging |
Het |
| Gcc2 |
A |
G |
10: 58,117,261 (GRCm39) |
N1170S |
possibly damaging |
Het |
| Gm29666 |
A |
T |
15: 84,798,260 (GRCm39) |
C100* |
probably null |
Het |
| Gm3573 |
A |
T |
14: 42,009,472 (GRCm39) |
Y158N |
possibly damaging |
Het |
| Gtf3c1 |
G |
T |
7: 125,240,793 (GRCm39) |
A1968E |
possibly damaging |
Het |
| Heg1 |
C |
A |
16: 33,558,638 (GRCm39) |
T815K |
probably damaging |
Het |
| Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
| Kif17 |
A |
G |
4: 138,002,306 (GRCm39) |
Y170C |
probably damaging |
Het |
| Kti12 |
G |
A |
4: 108,705,652 (GRCm39) |
G189R |
probably benign |
Het |
| Lrp4 |
G |
A |
2: 91,341,849 (GRCm39) |
A1821T |
probably benign |
Het |
| Mamdc4 |
T |
C |
2: 25,456,948 (GRCm39) |
I610V |
probably benign |
Het |
| Mmp1b |
T |
C |
9: 7,387,914 (GRCm39) |
K27E |
probably benign |
Het |
| Mob4 |
A |
G |
1: 55,187,588 (GRCm39) |
|
probably null |
Het |
| Myc |
G |
A |
15: 61,860,128 (GRCm39) |
|
probably null |
Het |
| Myo5c |
A |
T |
9: 75,196,468 (GRCm39) |
I1305F |
probably benign |
Het |
| Nprl3 |
A |
G |
11: 32,187,381 (GRCm39) |
V292A |
probably damaging |
Het |
| Ntng2 |
T |
C |
2: 29,087,102 (GRCm39) |
T373A |
probably damaging |
Het |
| Or1f19 |
T |
A |
16: 3,410,380 (GRCm39) |
V40D |
probably damaging |
Het |
| Or4a67 |
C |
T |
2: 88,598,228 (GRCm39) |
V144I |
probably benign |
Het |
| Or5p50 |
T |
A |
7: 107,422,395 (GRCm39) |
T94S |
probably benign |
Het |
| Or7e171-ps1 |
A |
T |
9: 19,853,070 (GRCm39) |
L222H |
unknown |
Het |
| Pard3 |
T |
C |
8: 128,137,228 (GRCm39) |
L859P |
probably damaging |
Het |
| Ppcs |
T |
C |
4: 119,276,285 (GRCm39) |
D100G |
probably damaging |
Het |
| Prkdc |
G |
T |
16: 15,543,325 (GRCm39) |
|
probably null |
Het |
| Pwwp2b |
T |
C |
7: 138,835,903 (GRCm39) |
V448A |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 72,056,119 (GRCm39) |
K624R |
probably benign |
Het |
| Spata31e5 |
A |
T |
1: 28,815,974 (GRCm39) |
I686N |
probably benign |
Het |
| Synj2 |
C |
T |
17: 6,088,290 (GRCm39) |
S1447L |
possibly damaging |
Het |
| Tfap2a |
T |
A |
13: 40,882,230 (GRCm39) |
N25I |
probably damaging |
Het |
| Tnxb |
C |
A |
17: 34,928,606 (GRCm39) |
Y2673* |
probably null |
Het |
| Trim27 |
T |
A |
13: 21,376,624 (GRCm39) |
H457Q |
probably damaging |
Het |
| Trim72 |
T |
G |
7: 127,609,558 (GRCm39) |
F453L |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,015,379 (GRCm39) |
M877K |
probably damaging |
Het |
| Usp10 |
T |
C |
8: 120,678,711 (GRCm39) |
L564P |
probably benign |
Het |
| Usp54 |
A |
G |
14: 20,627,296 (GRCm39) |
V454A |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,150,904 (GRCm39) |
D701E |
probably benign |
Het |
| Vmn2r103 |
A |
G |
17: 19,993,773 (GRCm39) |
H50R |
probably benign |
Het |
| Zfp35 |
G |
A |
18: 24,136,015 (GRCm39) |
V120I |
possibly damaging |
Het |
| Zfp712 |
T |
C |
13: 67,189,568 (GRCm39) |
T320A |
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 |
|
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 |
|
|
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'- TGTCATCTATGCTAGGGTGAGAC -3'
(R):5'- CAACATACTTCCATGGCCGTC -3'
Sequencing Primer
(F):5'- CTGACGTCCTTCAGTGATGAACAG -3'
(R):5'- ATGGCCGTCTGCTTGAAC -3'
|
| Posted On |
2019-03-13 |
Incidental Mutation