Incidental Mutation 'R7791:Capn13'
| ID |
599903 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capn13
|
| Ensembl Gene |
ENSMUSG00000043705 |
| Gene Name |
calpain 13 |
| Synonyms |
LOC381122 |
| MMRRC Submission |
045847-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R7791 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
73613451-73706376 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73689883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 43
(I43V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095208]
|
| AlphaFold |
Q3UW68 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095208
AA Change: I43V
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000092832
Gene: ENSMUSG00000043705
AA Change: I43V
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (51/51) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
A |
T |
13: 59,838,508 (GRCm39) |
M108K |
probably benign |
Het |
| AAdacl4fm3 |
A |
G |
4: 144,430,015 (GRCm39) |
S325P |
probably damaging |
Het |
| Adamts9 |
A |
T |
6: 92,849,366 (GRCm39) |
V1031D |
probably benign |
Het |
| Agap3 |
C |
T |
5: 24,681,411 (GRCm39) |
R122C |
probably damaging |
Het |
| Arhgap27 |
A |
G |
11: 103,230,020 (GRCm39) |
|
probably null |
Het |
| Atp1a2 |
T |
A |
1: 172,103,782 (GRCm39) |
I950F |
probably benign |
Het |
| Bahcc1 |
T |
G |
11: 120,159,203 (GRCm39) |
H143Q |
probably damaging |
Het |
| Bcl7b |
T |
A |
5: 135,199,968 (GRCm39) |
D40E |
probably damaging |
Het |
| C9 |
C |
T |
15: 6,519,359 (GRCm39) |
R399C |
possibly damaging |
Het |
| Ctcf |
A |
G |
8: 106,391,571 (GRCm39) |
T289A |
possibly damaging |
Het |
| Cux2 |
T |
C |
5: 122,005,162 (GRCm39) |
N1008S |
probably benign |
Het |
| Dst |
T |
A |
1: 34,193,673 (GRCm39) |
M294K |
probably damaging |
Het |
| Eml4 |
G |
T |
17: 83,781,135 (GRCm39) |
D778Y |
probably benign |
Het |
| Exoc3l4 |
A |
C |
12: 111,389,974 (GRCm39) |
D183A |
probably damaging |
Het |
| Eya4 |
A |
T |
10: 22,989,825 (GRCm39) |
S511T |
probably damaging |
Het |
| Fbrsl1 |
T |
C |
5: 110,595,885 (GRCm39) |
H50R |
probably benign |
Het |
| Gemin5 |
G |
A |
11: 58,015,819 (GRCm39) |
P1396S |
probably benign |
Het |
| Gnb4 |
A |
G |
3: 32,644,192 (GRCm39) |
F151L |
possibly damaging |
Het |
| Gnptab |
A |
G |
10: 88,276,084 (GRCm39) |
|
probably null |
Het |
| Gpbp1l1 |
T |
A |
4: 116,431,617 (GRCm39) |
W92R |
probably damaging |
Het |
| Gucy1b1 |
A |
T |
3: 81,942,704 (GRCm39) |
Y479* |
probably null |
Het |
| Htr3a |
T |
A |
9: 48,812,875 (GRCm39) |
Q188L |
possibly damaging |
Het |
| Ighv5-9-1 |
A |
G |
12: 113,700,165 (GRCm39) |
F18S |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,471,425 (GRCm39) |
T1004A |
probably damaging |
Het |
| Mansc4 |
G |
A |
6: 146,983,042 (GRCm39) |
L132F |
unknown |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mtor |
G |
T |
4: 148,547,397 (GRCm39) |
R460L |
probably benign |
Het |
| Mtus1 |
A |
T |
8: 41,536,417 (GRCm39) |
F433Y |
possibly damaging |
Het |
| Myoc |
T |
C |
1: 162,476,690 (GRCm39) |
Y465H |
probably damaging |
Het |
| N4bp1 |
A |
G |
8: 87,579,831 (GRCm39) |
V657A |
probably damaging |
Het |
| Ndufv1 |
A |
T |
19: 4,061,533 (GRCm39) |
|
probably null |
Het |
| Nectin1 |
T |
C |
9: 43,703,336 (GRCm39) |
I198T |
probably benign |
Het |
| Or10h1 |
T |
A |
17: 33,418,326 (GRCm39) |
C101* |
probably null |
Het |
| Or8g20 |
T |
C |
9: 39,396,177 (GRCm39) |
D124G |
probably damaging |
Het |
| Padi2 |
C |
T |
4: 140,644,907 (GRCm39) |
T47I |
probably benign |
Het |
| Pdia4 |
A |
T |
6: 47,784,056 (GRCm39) |
I116N |
probably damaging |
Het |
| Pkdrej |
T |
A |
15: 85,700,132 (GRCm39) |
I1935L |
possibly damaging |
Het |
| Pnpla7 |
C |
A |
2: 24,942,078 (GRCm39) |
A1173D |
probably damaging |
Het |
| Ralgapa1 |
A |
T |
12: 55,788,304 (GRCm39) |
L593Q |
probably damaging |
Het |
| Scn5a |
A |
G |
9: 119,372,402 (GRCm39) |
S231P |
possibly damaging |
Het |
| Slc13a2 |
A |
G |
11: 78,312,890 (GRCm39) |
|
probably null |
Het |
| Spdl1 |
A |
G |
11: 34,704,304 (GRCm39) |
S510P |
possibly damaging |
Het |
| Tbxa2r |
G |
T |
10: 81,170,540 (GRCm39) |
*342L |
probably null |
Het |
| Tfrc |
A |
G |
16: 32,437,985 (GRCm39) |
K346R |
probably benign |
Het |
| Tmem52b |
A |
G |
6: 129,489,966 (GRCm39) |
|
probably benign |
Het |
| Tsc1 |
T |
C |
2: 28,571,960 (GRCm39) |
F844L |
probably damaging |
Het |
| Ttc39a |
A |
G |
4: 109,283,544 (GRCm39) |
N158S |
probably benign |
Het |
| Ulk4 |
C |
T |
9: 121,092,734 (GRCm39) |
E168K |
possibly damaging |
Het |
| Vgf |
T |
C |
5: 137,060,885 (GRCm39) |
L349P |
unknown |
Het |
| Vil1 |
T |
C |
1: 74,467,295 (GRCm39) |
Y681H |
probably damaging |
Het |
| Zfp654 |
A |
G |
16: 64,603,634 (GRCm39) |
*572R |
probably null |
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 |
|
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 |
|
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'- ACTGGATGTTAAGACTGCAGCAG -3'
(R):5'- CGCAATGTTCTGGCACTCATC -3'
Sequencing Primer
(F):5'- CTGCAGCAGAGAAATTAGATGAATC -3'
(R):5'- GCAATGTTCTGGCACTCATCATTTTC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation