Incidental Mutation 'R7047:Capn11'
ID |
547393 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Capn11
|
Ensembl Gene |
ENSMUSG00000058626 |
Gene Name |
calpain 11 |
Synonyms |
|
MMRRC Submission |
045145-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7047 (G1)
|
Quality Score |
197.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
45941130-45970251 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 45949622 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 448
(S448*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113132
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120717]
[ENSMUST00000151350]
|
AlphaFold |
Q6J756 |
Predicted Effect |
probably null
Transcript: ENSMUST00000120717
AA Change: S448*
|
SMART Domains |
Protein: ENSMUSP00000113132 Gene: ENSMUSG00000058626 AA Change: S448*
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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 |
3425401B19Rik |
A |
T |
14: 32,382,131 (GRCm39) |
I1278N |
possibly damaging |
Het |
Adcy5 |
T |
A |
16: 35,087,585 (GRCm39) |
L482Q |
probably damaging |
Het |
Adora2a |
A |
G |
10: 75,162,145 (GRCm39) |
I95V |
probably damaging |
Het |
Anapc1 |
A |
C |
2: 128,457,350 (GRCm39) |
C1887G |
probably damaging |
Het |
Arfgef2 |
T |
A |
2: 166,693,865 (GRCm39) |
|
probably null |
Het |
Capn7 |
C |
T |
14: 31,058,642 (GRCm39) |
|
probably benign |
Het |
Cep55 |
T |
A |
19: 38,048,539 (GRCm39) |
V65D |
possibly damaging |
Het |
Col5a1 |
A |
G |
2: 27,818,096 (GRCm39) |
K107R |
unknown |
Het |
Dbh |
T |
A |
2: 27,055,622 (GRCm39) |
I32N |
possibly damaging |
Het |
Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
Dzip3 |
A |
T |
16: 48,802,489 (GRCm39) |
N13K |
probably benign |
Het |
Emilin1 |
A |
G |
5: 31,074,422 (GRCm39) |
N221S |
probably benign |
Het |
Ext2 |
A |
G |
2: 93,570,002 (GRCm39) |
F470L |
probably damaging |
Het |
Filip1 |
T |
A |
9: 79,760,916 (GRCm39) |
Q206L |
probably damaging |
Het |
Garin1b |
T |
A |
6: 29,323,809 (GRCm39) |
L178H |
probably damaging |
Het |
Gpr63 |
G |
T |
4: 25,007,320 (GRCm39) |
A15S |
probably benign |
Het |
Grhl3 |
T |
C |
4: 135,276,551 (GRCm39) |
|
probably null |
Het |
Hspa5 |
C |
T |
2: 34,663,204 (GRCm39) |
P127L |
probably damaging |
Het |
Ift172 |
G |
T |
5: 31,433,238 (GRCm39) |
Y193* |
probably null |
Het |
Ints1 |
A |
C |
5: 139,744,226 (GRCm39) |
L1512* |
probably null |
Het |
Kat2b |
A |
G |
17: 53,970,597 (GRCm39) |
Q661R |
probably benign |
Het |
Kat6a |
A |
G |
8: 23,428,554 (GRCm39) |
N1303S |
possibly damaging |
Het |
L3mbtl4 |
G |
T |
17: 68,768,561 (GRCm39) |
R223L |
probably benign |
Het |
Maml2 |
T |
C |
9: 13,532,177 (GRCm39) |
|
probably benign |
Het |
Mixl1 |
A |
G |
1: 180,524,183 (GRCm39) |
|
probably null |
Het |
Mocs1 |
T |
C |
17: 49,759,887 (GRCm39) |
|
probably null |
Het |
Ms4a15 |
T |
G |
19: 10,962,236 (GRCm39) |
N36T |
probably damaging |
Het |
Msr1 |
G |
A |
8: 40,095,657 (GRCm39) |
T2I |
possibly damaging |
Het |
Nlgn1 |
A |
C |
3: 25,490,199 (GRCm39) |
Y509* |
probably null |
Het |
Nsmce1 |
C |
A |
7: 125,090,606 (GRCm39) |
G4C |
probably benign |
Het |
Or4c113 |
A |
T |
2: 88,885,490 (GRCm39) |
F93L |
probably damaging |
Het |
Or51v15-ps1 |
A |
G |
7: 103,278,918 (GRCm39) |
V83A |
probably damaging |
Het |
Pan3 |
G |
A |
5: 147,483,175 (GRCm39) |
G452D |
probably damaging |
Het |
Pcyox1 |
G |
T |
6: 86,365,891 (GRCm39) |
P441H |
probably damaging |
Het |
Phf12 |
T |
C |
11: 77,904,099 (GRCm39) |
V273A |
probably damaging |
Het |
Plcd4 |
A |
G |
1: 74,591,148 (GRCm39) |
E181G |
possibly damaging |
Het |
Ptgfr |
A |
T |
3: 151,541,178 (GRCm39) |
I110N |
possibly damaging |
Het |
Rab40c |
A |
C |
17: 26,138,458 (GRCm39) |
V8G |
probably damaging |
Het |
Rasal3 |
T |
A |
17: 32,615,458 (GRCm39) |
Y460F |
probably damaging |
Het |
Rhbdf2 |
A |
G |
11: 116,494,477 (GRCm39) |
|
probably null |
Het |
Ryr2 |
T |
A |
13: 11,839,286 (GRCm39) |
N496Y |
possibly damaging |
Het |
Sacs |
A |
T |
14: 61,450,451 (GRCm39) |
I4166F |
probably damaging |
Het |
Sh2d3c |
T |
C |
2: 32,611,172 (GRCm39) |
M1T |
probably null |
Het |
Smarca2 |
C |
T |
19: 26,646,555 (GRCm39) |
S651L |
possibly damaging |
Het |
Sned1 |
A |
T |
1: 93,213,540 (GRCm39) |
R1204S |
possibly damaging |
Het |
Spata31d1b |
T |
C |
13: 59,860,249 (GRCm39) |
Y41H |
probably damaging |
Het |
Stab2 |
C |
T |
10: 86,694,016 (GRCm39) |
C2075Y |
probably damaging |
Het |
Tcte1 |
A |
T |
17: 45,844,294 (GRCm39) |
Q90L |
possibly damaging |
Het |
Tll2 |
C |
T |
19: 41,074,679 (GRCm39) |
G945S |
probably damaging |
Het |
Tmbim7 |
A |
T |
5: 3,720,112 (GRCm39) |
T116S |
probably benign |
Het |
Tnfrsf19 |
A |
T |
14: 61,242,667 (GRCm39) |
C72* |
probably null |
Het |
Usp17le |
T |
A |
7: 104,417,640 (GRCm39) |
T501S |
probably benign |
Het |
Wnt5b |
T |
A |
6: 119,425,217 (GRCm39) |
|
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 |
|
R6774:Capn11
|
UTSW |
17 |
45,968,256 (GRCm39) |
intron |
probably benign |
|
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'- ACCTTTATCCTAGACTGGGGAG -3'
(R):5'- AACCACCTTGACCTGGATCTTC -3'
Sequencing Primer
(F):5'- ATCCTAGACTGGGGAGTTTGCC -3'
(R):5'- TGACCTGGATCTTCCACAGAG -3'
|
Posted On |
2019-05-13 |