Incidental Mutation 'R0745:Capn13'
| ID |
70938 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capn13
|
| Ensembl Gene |
ENSMUSG00000043705 |
| Gene Name |
calpain 13 |
| Synonyms |
LOC381122 |
| MMRRC Submission |
038926-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R0745 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
73613451-73706376 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 73658503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 188
(D188E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095208]
|
| AlphaFold |
Q3UW68 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095208
AA Change: D188E
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000092832
Gene: ENSMUSG00000043705
AA Change: D188E
| 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 |
|
| Meta Mutation Damage Score |
0.2110 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.0%
|
| Validation Efficiency |
100% (40/40) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
A |
T |
2: 150,675,068 (GRCm39) |
|
probably null |
Het |
| Adam17 |
A |
G |
12: 21,382,222 (GRCm39) |
|
probably benign |
Het |
| Aldh1l2 |
T |
A |
10: 83,354,494 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
A |
G |
3: 36,982,612 (GRCm39) |
Y759C |
probably damaging |
Het |
| Brca2 |
A |
T |
5: 150,468,347 (GRCm39) |
|
probably benign |
Het |
| Col14a1 |
A |
T |
15: 55,201,813 (GRCm39) |
T34S |
unknown |
Het |
| Col5a2 |
A |
G |
1: 45,446,387 (GRCm39) |
|
probably null |
Het |
| Cyp4v3 |
A |
G |
8: 45,761,688 (GRCm39) |
|
probably benign |
Het |
| Dlat |
G |
A |
9: 50,565,008 (GRCm39) |
T233M |
probably damaging |
Het |
| Eef2 |
C |
T |
10: 81,017,830 (GRCm39) |
P831S |
probably benign |
Het |
| Endod1 |
A |
T |
9: 14,268,413 (GRCm39) |
N357K |
possibly damaging |
Het |
| Evc |
A |
T |
5: 37,476,403 (GRCm39) |
V205E |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,228,469 (GRCm39) |
L1754P |
probably damaging |
Het |
| Gabra6 |
A |
T |
11: 42,207,394 (GRCm39) |
M230K |
probably damaging |
Het |
| Hsd3b5 |
A |
G |
3: 98,526,855 (GRCm39) |
V197A |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,564,696 (GRCm39) |
|
probably null |
Het |
| Mthfsd |
A |
T |
8: 121,829,688 (GRCm39) |
L116Q |
probably damaging |
Het |
| Mug1 |
A |
G |
6: 121,864,386 (GRCm39) |
T1428A |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,973,065 (GRCm39) |
V2312A |
probably benign |
Het |
| Or1i2 |
T |
C |
10: 78,447,956 (GRCm39) |
E173G |
probably benign |
Het |
| Palld |
G |
A |
8: 62,330,737 (GRCm39) |
R47C |
probably damaging |
Het |
| Pds5b |
A |
G |
5: 150,729,136 (GRCm39) |
T1424A |
probably benign |
Het |
| Ppp6r2 |
G |
A |
15: 89,149,445 (GRCm39) |
|
probably null |
Het |
| Sik3 |
A |
G |
9: 46,109,537 (GRCm39) |
N505S |
probably benign |
Het |
| Spin1 |
A |
G |
13: 51,293,551 (GRCm39) |
Y87C |
probably damaging |
Het |
| Tcp11 |
T |
C |
17: 28,286,134 (GRCm39) |
I494V |
possibly damaging |
Het |
| Tgfa |
G |
A |
6: 86,248,417 (GRCm39) |
E140K |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trmo |
A |
G |
4: 46,382,104 (GRCm39) |
F338L |
probably damaging |
Het |
| Tspan17 |
T |
C |
13: 54,937,487 (GRCm39) |
V27A |
possibly damaging |
Het |
| Tut4 |
C |
G |
4: 108,360,152 (GRCm39) |
|
probably benign |
Het |
| Uba5 |
A |
G |
9: 103,926,710 (GRCm39) |
|
probably benign |
Het |
| Unc5a |
CTGTGTGTGTGTGTGT |
CTGTGTGTGTGTGT |
13: 55,153,068 (GRCm39) |
|
probably null |
Het |
| Zbbx |
C |
T |
3: 75,062,734 (GRCm39) |
V8I |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,809,929 (GRCm39) |
L931* |
probably null |
Het |
| Zmym4 |
A |
T |
4: 126,796,496 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAATCCCTGCCTCAGAGAGAAG -3'
(R):5'- TTTTCAGACCAAGGAGGGAGCAAC -3'
Sequencing Primer
(F):5'- CTGCCTCAGAGAGAAGATACATATGG -3'
(R):5'- GGAGCAACAAAGCAGATTCTTATC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation