Incidental Mutation 'R7302:Capn11'
| ID |
567071 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capn11
|
| Ensembl Gene |
ENSMUSG00000058626 |
| Gene Name |
calpain 11 |
| Synonyms |
|
| MMRRC Submission |
045406-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7302 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
45941130-45970251 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45954738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 133
(R133H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113132
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120717]
[ENSMUST00000151350]
|
| AlphaFold |
Q6J756 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120717
AA Change: R133H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113132
Gene: ENSMUSG00000058626
AA Change: R133H
| 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 |
0.2189 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (50/51) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
C |
T |
14: 35,817,306 (GRCm39) |
P69S |
probably benign |
Het |
| Adam17 |
A |
G |
12: 21,405,694 (GRCm39) |
|
probably benign |
Het |
| Bcl7a |
T |
A |
5: 123,482,757 (GRCm39) |
M22K |
probably benign |
Het |
| C6 |
T |
A |
15: 4,826,432 (GRCm39) |
C672S |
probably damaging |
Het |
| Ccdc102a |
A |
G |
8: 95,640,066 (GRCm39) |
L76P |
probably damaging |
Het |
| Cfhr4 |
T |
C |
1: 139,667,436 (GRCm39) |
|
probably null |
Het |
| Cotl1 |
T |
G |
8: 120,537,040 (GRCm39) |
I125L |
probably benign |
Het |
| Dennd5a |
A |
T |
7: 109,504,906 (GRCm39) |
M868K |
probably damaging |
Het |
| Depdc5 |
T |
C |
5: 33,136,852 (GRCm39) |
I1374T |
probably damaging |
Het |
| Dhx36 |
T |
C |
3: 62,386,814 (GRCm39) |
Y646C |
probably benign |
Het |
| Ecpas |
T |
C |
4: 58,834,593 (GRCm39) |
K762E |
probably benign |
Het |
| Egln2 |
A |
G |
7: 26,864,310 (GRCm39) |
V205A |
probably damaging |
Het |
| Eri2 |
T |
A |
7: 119,386,009 (GRCm39) |
M229L |
probably benign |
Het |
| Fancf |
C |
A |
7: 51,511,452 (GRCm39) |
R184L |
probably damaging |
Het |
| Fancl |
A |
T |
11: 26,353,363 (GRCm39) |
E86D |
probably damaging |
Het |
| Fignl2 |
T |
C |
15: 100,951,259 (GRCm39) |
D341G |
unknown |
Het |
| Gm14410 |
A |
T |
2: 176,885,648 (GRCm39) |
H205Q |
probably damaging |
Het |
| Haus1 |
T |
C |
18: 77,848,666 (GRCm39) |
N181D |
probably benign |
Het |
| Hmbox1 |
T |
C |
14: 65,066,115 (GRCm39) |
Y285C |
probably damaging |
Het |
| Igkv3-9 |
A |
G |
6: 70,565,739 (GRCm39) |
M113V |
probably benign |
Het |
| Ivd |
T |
C |
2: 118,701,985 (GRCm39) |
V139A |
probably benign |
Het |
| Limch1 |
A |
T |
5: 67,116,942 (GRCm39) |
Y119F |
probably benign |
Het |
| Lrp1 |
C |
T |
10: 127,374,856 (GRCm39) |
R4534Q |
probably benign |
Het |
| Mbd3l2 |
G |
A |
9: 18,355,738 (GRCm39) |
S21N |
probably benign |
Het |
| Mob1b |
A |
G |
5: 88,901,036 (GRCm39) |
N148D |
probably benign |
Het |
| Mylk4 |
A |
T |
13: 32,904,548 (GRCm39) |
D195E |
probably benign |
Het |
| Ndufa7 |
T |
C |
17: 34,048,687 (GRCm39) |
S50P |
probably benign |
Het |
| Nectin4 |
G |
T |
1: 171,214,203 (GRCm39) |
E453* |
probably null |
Het |
| Nell1 |
T |
G |
7: 50,506,017 (GRCm39) |
F741L |
probably benign |
Het |
| Ntng1 |
T |
A |
3: 109,739,933 (GRCm39) |
H369L |
possibly damaging |
Het |
| Plin4 |
T |
A |
17: 56,409,330 (GRCm39) |
M1297L |
probably benign |
Het |
| Pnp |
G |
A |
14: 51,188,404 (GRCm39) |
V193M |
probably damaging |
Het |
| Ppp1r10 |
T |
G |
17: 36,241,773 (GRCm39) |
S849R |
unknown |
Het |
| Rpgrip1 |
A |
G |
14: 52,387,012 (GRCm39) |
E981G |
unknown |
Het |
| Sbsn |
T |
C |
7: 30,451,309 (GRCm39) |
F108S |
probably benign |
Het |
| Scn11a |
A |
G |
9: 119,636,017 (GRCm39) |
M310T |
probably benign |
Het |
| Sf3b1 |
A |
G |
1: 55,055,949 (GRCm39) |
S97P |
probably benign |
Het |
| Sgsh |
A |
G |
11: 119,238,525 (GRCm39) |
V313A |
probably benign |
Het |
| Slc25a10 |
G |
T |
11: 120,382,782 (GRCm39) |
|
probably benign |
Het |
| Slc9a2 |
T |
A |
1: 40,806,828 (GRCm39) |
V705E |
possibly damaging |
Het |
| Surf2 |
G |
T |
2: 26,808,894 (GRCm39) |
C116F |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,882,698 (GRCm39) |
I175T |
probably benign |
Het |
| Tnxb |
C |
T |
17: 34,897,875 (GRCm39) |
T841I |
probably benign |
Het |
| Ttll3 |
A |
G |
6: 113,386,246 (GRCm39) |
D693G |
probably damaging |
Het |
| Ust |
A |
G |
10: 8,393,973 (GRCm39) |
L64P |
probably damaging |
Het |
| Vmn1r77 |
C |
T |
7: 11,775,983 (GRCm39) |
S253F |
possibly damaging |
Het |
| Vmn2r66 |
A |
G |
7: 84,654,423 (GRCm39) |
M512T |
probably benign |
Het |
| Zfp13 |
C |
T |
17: 23,800,036 (GRCm39) |
G89D |
probably damaging |
Het |
| Zfp616 |
T |
A |
11: 73,976,205 (GRCm39) |
Y825N |
probably benign |
Het |
| Zfp865 |
A |
G |
7: 5,032,252 (GRCm39) |
Y79C |
possibly damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,297,942 (GRCm39) |
F1916I |
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 |
|
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 |
|
|
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'- TTGTGGATGCAGGCACATGG -3'
(R):5'- CTGTGCAGCCTAGCCTAAAC -3'
Sequencing Primer
(F):5'- GATGCAGGCACATGGACCAC -3'
(R):5'- GTGCAGCCTAGCCTAAACTCCTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation