Incidental Mutation 'IGL02403:Capn13'
| ID |
291961 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Capn13
|
| Ensembl Gene |
ENSMUSG00000043705 |
| Gene Name |
calpain 13 |
| Synonyms |
LOC381122 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL02403
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
73613451-73706376 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 73658421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 216
(T216S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095208]
|
| AlphaFold |
Q3UW68 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095208
AA Change: T216S
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000092832
Gene: ENSMUSG00000043705
AA Change: T216S
| Domain | Start | End | E-Value | Type |
|---|
|
CysPc
|
12 |
337 |
3.23e-113 |
SMART |
|
Pfam:Calpain_III
|
341 |
473 |
2e-13 |
PFAM |
|
SCOP:d1k94a_
|
512 |
664 |
3e-8 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
G |
7: 45,755,227 (GRCm39) |
|
probably null |
Het |
| Alk |
C |
A |
17: 72,208,388 (GRCm39) |
G944V |
probably damaging |
Het |
| Alox15 |
T |
C |
11: 70,236,727 (GRCm39) |
D446G |
probably damaging |
Het |
| Apof |
A |
G |
10: 128,105,353 (GRCm39) |
|
probably null |
Het |
| Arhgap28 |
T |
G |
17: 68,180,154 (GRCm39) |
D81A |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 37,084,813 (GRCm39) |
S3922P |
probably benign |
Het |
| Bms1 |
T |
C |
6: 118,382,185 (GRCm39) |
E451G |
possibly damaging |
Het |
| C9orf72 |
A |
G |
4: 35,205,887 (GRCm39) |
|
probably benign |
Het |
| Ccdc28a |
A |
T |
10: 18,089,931 (GRCm39) |
|
probably benign |
Het |
| Cdip1 |
T |
C |
16: 4,586,676 (GRCm39) |
T150A |
probably damaging |
Het |
| Chrnb3 |
T |
A |
8: 27,883,836 (GRCm39) |
L191Q |
probably damaging |
Het |
| Chst2 |
G |
A |
9: 95,287,285 (GRCm39) |
Q354* |
probably null |
Het |
| Cldn11 |
T |
C |
3: 31,204,345 (GRCm39) |
V16A |
probably benign |
Het |
| Cyp4f18 |
A |
G |
8: 72,752,072 (GRCm39) |
M198T |
probably damaging |
Het |
| Dhx30 |
A |
G |
9: 109,920,587 (GRCm39) |
L280P |
probably damaging |
Het |
| Disc1 |
A |
G |
8: 125,862,258 (GRCm39) |
|
probably benign |
Het |
| Dnm1l |
T |
C |
16: 16,154,840 (GRCm39) |
I172V |
possibly damaging |
Het |
| Edem2 |
T |
C |
2: 155,550,983 (GRCm39) |
D328G |
possibly damaging |
Het |
| Fbxo10 |
G |
A |
4: 45,062,517 (GRCm39) |
T3M |
probably benign |
Het |
| Fdxacb1 |
T |
A |
9: 50,682,863 (GRCm39) |
S275R |
possibly damaging |
Het |
| Gm7275 |
C |
A |
16: 47,893,991 (GRCm39) |
|
noncoding transcript |
Het |
| Helz2 |
A |
T |
2: 180,872,815 (GRCm39) |
I2468N |
probably damaging |
Het |
| Ift46 |
C |
A |
9: 44,698,176 (GRCm39) |
P213Q |
probably damaging |
Het |
| Ift56 |
A |
G |
6: 38,386,373 (GRCm39) |
M365V |
possibly damaging |
Het |
| Irf2 |
G |
T |
8: 47,299,207 (GRCm39) |
V334F |
probably damaging |
Het |
| Lrp4 |
T |
A |
2: 91,338,927 (GRCm39) |
V1786E |
probably benign |
Het |
| Mfsd5 |
A |
G |
15: 102,188,973 (GRCm39) |
Y115C |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,357,187 (GRCm39) |
R1154G |
possibly damaging |
Het |
| Nek4 |
G |
T |
14: 30,686,008 (GRCm39) |
E314* |
probably null |
Het |
| Oas2 |
C |
T |
5: 120,886,815 (GRCm39) |
G117D |
possibly damaging |
Het |
| Or8j3b |
A |
T |
2: 86,204,867 (GRCm39) |
D296E |
probably benign |
Het |
| Pikfyve |
C |
T |
1: 65,283,663 (GRCm39) |
H767Y |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,632,642 (GRCm39) |
H591R |
probably benign |
Het |
| Pygl |
T |
A |
12: 70,241,032 (GRCm39) |
I672F |
probably benign |
Het |
| Rft1 |
G |
T |
14: 30,382,278 (GRCm39) |
|
probably benign |
Het |
| Ripor3 |
A |
C |
2: 167,831,250 (GRCm39) |
L517R |
probably damaging |
Het |
| Serpina3b |
A |
G |
12: 104,096,721 (GRCm39) |
M1V |
probably null |
Het |
| Sgce |
C |
T |
6: 4,694,059 (GRCm39) |
R263Q |
probably damaging |
Het |
| Stard6 |
A |
T |
18: 70,629,183 (GRCm39) |
|
probably null |
Het |
| Them4 |
T |
C |
3: 94,230,978 (GRCm39) |
F117L |
probably damaging |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Vmn2r116 |
G |
T |
17: 23,606,338 (GRCm39) |
D417Y |
probably damaging |
Het |
|
| Other mutations in Capn13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00885:Capn13
|
APN |
17 |
73,646,420 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01099:Capn13
|
APN |
17 |
73,658,504 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01613:Capn13
|
APN |
17 |
73,638,053 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02215:Capn13
|
APN |
17 |
73,637,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02877:Capn13
|
APN |
17 |
73,629,050 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03113:Capn13
|
APN |
17 |
73,638,108 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03246:Capn13
|
APN |
17 |
73,689,855 (GRCm39) |
missense |
probably benign |
|
|
IGL03369:Capn13
|
APN |
17 |
73,648,149 (GRCm39) |
splice site |
probably benign |
|
|
R0116:Capn13
|
UTSW |
17 |
73,658,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0729:Capn13
|
UTSW |
17 |
73,629,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0745:Capn13
|
UTSW |
17 |
73,658,503 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0746:Capn13
|
UTSW |
17 |
73,658,503 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0778:Capn13
|
UTSW |
17 |
73,658,503 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1252:Capn13
|
UTSW |
17 |
73,674,222 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1594:Capn13
|
UTSW |
17 |
73,658,474 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1641:Capn13
|
UTSW |
17 |
73,689,889 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1895:Capn13
|
UTSW |
17 |
73,657,520 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1902:Capn13
|
UTSW |
17 |
73,633,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1946:Capn13
|
UTSW |
17 |
73,657,520 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2184:Capn13
|
UTSW |
17 |
73,672,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2427:Capn13
|
UTSW |
17 |
73,633,312 (GRCm39) |
splice site |
probably benign |
|
|
R2963:Capn13
|
UTSW |
17 |
73,622,258 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3755:Capn13
|
UTSW |
17 |
73,638,114 (GRCm39) |
nonsense |
probably null |
|
|
R3759:Capn13
|
UTSW |
17 |
73,629,072 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3795:Capn13
|
UTSW |
17 |
73,644,387 (GRCm39) |
missense |
probably benign |
0.14 |
|
R3801:Capn13
|
UTSW |
17 |
73,646,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3802:Capn13
|
UTSW |
17 |
73,646,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3803:Capn13
|
UTSW |
17 |
73,646,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3804:Capn13
|
UTSW |
17 |
73,646,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4084:Capn13
|
UTSW |
17 |
73,644,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4194:Capn13
|
UTSW |
17 |
73,646,479 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4326:Capn13
|
UTSW |
17 |
73,638,103 (GRCm39) |
missense |
probably benign |
|
|
R4788:Capn13
|
UTSW |
17 |
73,644,427 (GRCm39) |
nonsense |
probably null |
|
|
R4852:Capn13
|
UTSW |
17 |
73,658,501 (GRCm39) |
frame shift |
probably null |
|
|
R4853:Capn13
|
UTSW |
17 |
73,658,501 (GRCm39) |
frame shift |
probably null |
|
|
R4855:Capn13
|
UTSW |
17 |
73,658,501 (GRCm39) |
frame shift |
probably null |
|
|
R5063:Capn13
|
UTSW |
17 |
73,629,074 (GRCm39) |
nonsense |
probably null |
|
|
R5112:Capn13
|
UTSW |
17 |
73,658,501 (GRCm39) |
frame shift |
probably null |
|
|
R5438:Capn13
|
UTSW |
17 |
73,633,479 (GRCm39) |
missense |
probably benign |
|
|
R5955:Capn13
|
UTSW |
17 |
73,637,997 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6408:Capn13
|
UTSW |
17 |
73,672,954 (GRCm39) |
nonsense |
probably null |
|
|
R6512:Capn13
|
UTSW |
17 |
73,689,985 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7425:Capn13
|
UTSW |
17 |
73,625,053 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7605:Capn13
|
UTSW |
17 |
73,652,132 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7678:Capn13
|
UTSW |
17 |
73,622,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7776:Capn13
|
UTSW |
17 |
73,629,049 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7791:Capn13
|
UTSW |
17 |
73,689,883 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8087:Capn13
|
UTSW |
17 |
73,623,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8090:Capn13
|
UTSW |
17 |
73,689,849 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8122:Capn13
|
UTSW |
17 |
73,674,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8169:Capn13
|
UTSW |
17 |
73,633,467 (GRCm39) |
splice site |
probably null |
|
|
R8927:Capn13
|
UTSW |
17 |
73,631,761 (GRCm39) |
splice site |
probably null |
|
|
R9193:Capn13
|
UTSW |
17 |
73,652,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9299:Capn13
|
UTSW |
17 |
73,633,467 (GRCm39) |
splice site |
probably null |
|
|
R9337:Capn13
|
UTSW |
17 |
73,633,467 (GRCm39) |
splice site |
probably null |
|
|
R9497:Capn13
|
UTSW |
17 |
73,633,362 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9509:Capn13
|
UTSW |
17 |
73,644,446 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9616:Capn13
|
UTSW |
17 |
73,672,964 (GRCm39) |
missense |
probably benign |
0.40 |
|
Z1176:Capn13
|
UTSW |
17 |
73,648,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation