Incidental Mutation 'R5671:Capn11'
ID |
442646 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Capn11
|
Ensembl Gene |
ENSMUSG00000058626 |
Gene Name |
calpain 11 |
Synonyms |
|
MMRRC Submission |
043314-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5671 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
45941130-45970251 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 45950600 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 293
(R293Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113132
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120717]
[ENSMUST00000151350]
|
AlphaFold |
Q6J756 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120717
AA Change: R293Q
PolyPhen 2
Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000113132 Gene: ENSMUSG00000058626 AA Change: R293Q
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 |
0.0732 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (57/57) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Ak2 |
T |
A |
4: 128,902,040 (GRCm39) |
F238I |
probably damaging |
Het |
Akap8l |
T |
C |
17: 32,557,266 (GRCm39) |
Y115C |
probably damaging |
Het |
Alms1 |
T |
A |
6: 85,606,190 (GRCm39) |
N2613K |
possibly damaging |
Het |
Antxr1 |
C |
T |
6: 87,194,255 (GRCm39) |
|
probably null |
Het |
Ap3b1 |
A |
T |
13: 94,664,765 (GRCm39) |
R901S |
unknown |
Het |
Arhgap45 |
A |
G |
10: 79,861,310 (GRCm39) |
E491G |
probably damaging |
Het |
Cdx1 |
C |
T |
18: 61,152,971 (GRCm39) |
V212I |
probably benign |
Het |
Clca4b |
G |
A |
3: 144,627,624 (GRCm39) |
T449I |
probably benign |
Het |
Clec14a |
T |
C |
12: 58,314,612 (GRCm39) |
I337V |
probably benign |
Het |
Clip4 |
A |
C |
17: 72,096,878 (GRCm39) |
M1L |
probably damaging |
Het |
Exoc3l4 |
T |
C |
12: 111,389,851 (GRCm39) |
I142T |
probably damaging |
Het |
Flnb |
T |
A |
14: 7,890,843 (GRCm38) |
I575N |
probably benign |
Het |
Gad1-ps |
A |
T |
10: 99,280,395 (GRCm39) |
|
noncoding transcript |
Het |
Golga7 |
C |
T |
8: 23,740,360 (GRCm39) |
A57T |
probably damaging |
Het |
Gpa33 |
A |
G |
1: 165,974,360 (GRCm39) |
T66A |
possibly damaging |
Het |
Gpr141b |
A |
G |
13: 19,913,465 (GRCm39) |
|
noncoding transcript |
Het |
Gpr45 |
A |
G |
1: 43,072,218 (GRCm39) |
Y287C |
probably damaging |
Het |
H2-Eb1 |
C |
A |
17: 34,533,229 (GRCm39) |
Y150* |
probably null |
Het |
Hsd17b8 |
T |
C |
17: 34,245,435 (GRCm39) |
D233G |
probably null |
Het |
Ifna6 |
A |
T |
4: 88,745,906 (GRCm39) |
Q85L |
probably damaging |
Het |
Igkv9-120 |
G |
A |
6: 68,027,257 (GRCm39) |
W57* |
probably null |
Het |
Ivns1abp |
G |
T |
1: 151,229,760 (GRCm39) |
L149F |
probably benign |
Het |
Kank4 |
A |
G |
4: 98,653,698 (GRCm39) |
|
probably null |
Het |
Lama2 |
A |
T |
10: 27,066,540 (GRCm39) |
C1114S |
probably damaging |
Het |
Lmbr1l |
A |
C |
15: 98,805,489 (GRCm39) |
D337E |
possibly damaging |
Het |
Ly75 |
T |
C |
2: 60,138,655 (GRCm39) |
D1404G |
probably damaging |
Het |
Muc4 |
A |
G |
16: 32,575,011 (GRCm39) |
T1199A |
probably benign |
Het |
Nalcn |
A |
G |
14: 123,532,818 (GRCm39) |
I1314T |
probably damaging |
Het |
Nhlrc1 |
A |
G |
13: 47,167,193 (GRCm39) |
F355L |
probably benign |
Het |
Or2y16 |
T |
C |
11: 49,335,140 (GRCm39) |
V154A |
probably benign |
Het |
Or4k39 |
C |
T |
2: 111,238,818 (GRCm39) |
|
noncoding transcript |
Het |
Or5b21 |
A |
T |
19: 12,839,171 (GRCm39) |
T11S |
probably benign |
Het |
Pcsk1 |
A |
G |
13: 75,246,026 (GRCm39) |
T135A |
possibly damaging |
Het |
Ptpru |
T |
A |
4: 131,547,501 (GRCm39) |
Y112F |
possibly damaging |
Het |
Rbbp8 |
A |
G |
18: 11,875,699 (GRCm39) |
S871G |
probably benign |
Het |
Rhoj |
A |
T |
12: 75,440,743 (GRCm39) |
I135F |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Semp2l2b |
T |
A |
10: 21,942,742 (GRCm39) |
T413S |
possibly damaging |
Het |
Ska1 |
G |
T |
18: 74,330,067 (GRCm39) |
D224E |
probably damaging |
Het |
Slc11a2 |
A |
G |
15: 100,301,169 (GRCm39) |
Y295H |
probably damaging |
Het |
Slc22a28 |
A |
T |
19: 8,108,795 (GRCm39) |
C116S |
probably damaging |
Het |
Synpo |
T |
C |
18: 60,729,022 (GRCm39) |
D1060G |
probably damaging |
Het |
Tectb |
T |
C |
19: 55,181,059 (GRCm39) |
S310P |
probably benign |
Het |
Tmc6 |
A |
G |
11: 117,666,441 (GRCm39) |
S288P |
possibly damaging |
Het |
Tpo |
A |
G |
12: 30,169,490 (GRCm39) |
S82P |
probably benign |
Het |
Ttyh3 |
T |
A |
5: 140,617,307 (GRCm39) |
M321L |
probably benign |
Het |
Usp8 |
A |
G |
2: 126,584,345 (GRCm39) |
D518G |
probably benign |
Het |
Vmn2r11 |
A |
G |
5: 109,202,772 (GRCm39) |
W102R |
probably benign |
Het |
Vps13a |
G |
A |
19: 16,692,464 (GRCm39) |
H817Y |
probably benign |
Het |
Vps51 |
A |
G |
19: 6,118,224 (GRCm39) |
V757A |
probably benign |
Het |
Washc4 |
T |
C |
10: 83,405,892 (GRCm39) |
S463P |
probably damaging |
Het |
Zfp423 |
T |
C |
8: 88,508,955 (GRCm39) |
N442S |
probably 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 |
|
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 |
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'- CAGCTGTACCCGAACATCTG -3'
(R):5'- TGCGAGGACATGCTTATGC -3'
Sequencing Primer
(F):5'- TGTACCCGAACATCTGGGCTC -3'
(R):5'- CTTATGCAGTGACTGGCCTAGAG -3'
|
Posted On |
2016-11-09 |