Incidental Mutation 'R2427:Capn13'
| ID |
250290 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capn13
|
| Ensembl Gene |
ENSMUSG00000043705 |
| Gene Name |
calpain 13 |
| Synonyms |
LOC381122 |
| MMRRC Submission |
040389-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R2427 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
73613451-73706376 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 73633312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095208]
|
| AlphaFold |
Q3UW68 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095208
|
| SMART Domains |
Protein: ENSMUSP00000092832
Gene: ENSMUSG00000043705
| 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (37/37) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankmy1 |
A |
G |
1: 92,798,529 (GRCm39) |
|
probably null |
Het |
| Atp2a1 |
T |
A |
7: 126,045,755 (GRCm39) |
*995L |
probably null |
Het |
| Axin2 |
T |
A |
11: 108,814,800 (GRCm39) |
N229K |
possibly damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,929,545 (GRCm39) |
I1202V |
probably benign |
Het |
| Cep295 |
A |
G |
9: 15,245,534 (GRCm39) |
L974P |
probably damaging |
Het |
| Cers3 |
T |
C |
7: 66,445,541 (GRCm39) |
Y321H |
probably benign |
Het |
| Chrnb4 |
T |
C |
9: 54,942,101 (GRCm39) |
Y391C |
probably benign |
Het |
| Ciao1 |
T |
C |
2: 127,088,611 (GRCm39) |
H104R |
probably damaging |
Het |
| Cldn4 |
A |
T |
5: 134,975,331 (GRCm39) |
V90E |
probably damaging |
Het |
| Crbn |
T |
C |
6: 106,760,433 (GRCm39) |
E253G |
probably damaging |
Het |
| Ctns |
A |
G |
11: 73,087,512 (GRCm39) |
W5R |
probably damaging |
Het |
| Eme1 |
G |
A |
11: 94,541,801 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,201,638 (GRCm39) |
T479S |
probably benign |
Het |
| Fbxw25 |
T |
C |
9: 109,481,928 (GRCm39) |
N253D |
probably benign |
Het |
| Fer |
A |
G |
17: 64,264,298 (GRCm39) |
I39V |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 53,006,991 (GRCm39) |
M768V |
probably damaging |
Het |
| Frg1 |
T |
C |
8: 41,867,903 (GRCm39) |
K24E |
probably damaging |
Het |
| I830077J02Rik |
G |
T |
3: 105,835,320 (GRCm39) |
A19D |
probably damaging |
Het |
| Ighv1-20 |
C |
T |
12: 114,687,692 (GRCm39) |
|
silent |
Het |
| Igsf9 |
A |
G |
1: 172,318,306 (GRCm39) |
S149G |
probably damaging |
Het |
| Klra10 |
T |
A |
6: 130,256,298 (GRCm39) |
I119F |
probably benign |
Het |
| Lrrc4b |
T |
A |
7: 44,111,976 (GRCm39) |
I616N |
probably damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,653,309 (GRCm39) |
T64A |
probably benign |
Het |
| Ly9 |
A |
T |
1: 171,434,800 (GRCm39) |
I31N |
probably damaging |
Het |
| Mef2a |
A |
G |
7: 66,915,808 (GRCm39) |
S165P |
probably damaging |
Het |
| Nol4 |
T |
G |
18: 22,983,755 (GRCm39) |
|
probably benign |
Het |
| Nt5el |
T |
C |
13: 105,246,269 (GRCm39) |
F277L |
probably benign |
Het |
| Plxnd1 |
C |
T |
6: 115,944,709 (GRCm39) |
|
probably null |
Het |
| Rab27b |
T |
C |
18: 70,129,205 (GRCm39) |
T30A |
probably damaging |
Het |
| Rasa4 |
A |
G |
5: 136,130,881 (GRCm39) |
D384G |
probably benign |
Het |
| Slx4 |
G |
A |
16: 3,806,851 (GRCm39) |
L531F |
probably damaging |
Het |
| Tafa4 |
C |
T |
6: 96,991,328 (GRCm39) |
|
probably benign |
Het |
| Tgm1 |
C |
T |
14: 55,949,557 (GRCm39) |
|
probably null |
Het |
| Tpm2 |
T |
C |
4: 43,523,306 (GRCm39) |
N17D |
probably damaging |
Het |
| Tyrp1 |
A |
G |
4: 80,769,108 (GRCm39) |
T134A |
probably benign |
Het |
| Zfand6 |
T |
A |
7: 84,283,498 (GRCm39) |
K35* |
probably null |
Het |
| Zfp648 |
G |
A |
1: 154,080,819 (GRCm39) |
C326Y |
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 |
|
IGL02403:Capn13
|
APN |
17 |
73,658,421 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCAGAAGGTAGCATCGG -3'
(R):5'- CAGGAGTTCCTAACAGGTACATC -3'
Sequencing Primer
(F):5'- CTCCAACCAGCTGTGTTAGATAGG -3'
(R):5'- GGAGTTCCTAACAGGTACATCAGCTC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation