Incidental Mutation 'R7776:Capn13'
| ID |
598926 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capn13
|
| Ensembl Gene |
ENSMUSG00000043705 |
| Gene Name |
calpain 13 |
| Synonyms |
LOC381122 |
| MMRRC Submission |
045832-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R7776 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
73613451-73706376 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 73629049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 586
(S586L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095208]
|
| AlphaFold |
Q3UW68 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095208
AA Change: S586L
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000092832
Gene: ENSMUSG00000043705
AA Change: S586L
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
C |
7: 119,832,214 (GRCm39) |
|
probably null |
Het |
| Abca3 |
T |
A |
17: 24,605,250 (GRCm39) |
V716D |
possibly damaging |
Het |
| Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
| Alkbh1 |
A |
G |
12: 87,478,215 (GRCm39) |
V232A |
probably damaging |
Het |
| Arhgef10l |
T |
A |
4: 140,302,642 (GRCm39) |
I271F |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,407,584 (GRCm39) |
M2157K |
possibly damaging |
Het |
| Cd3g |
A |
T |
9: 44,885,459 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
A |
T |
10: 92,704,603 (GRCm39) |
Y2826N |
unknown |
Het |
| Cmas |
T |
C |
6: 142,710,283 (GRCm39) |
V134A |
probably damaging |
Het |
| Cnp |
A |
G |
11: 100,469,814 (GRCm39) |
H250R |
probably damaging |
Het |
| Dact1 |
G |
A |
12: 71,364,688 (GRCm39) |
A453T |
probably benign |
Het |
| Dcaf6 |
T |
A |
1: 165,179,623 (GRCm39) |
R506* |
probably null |
Het |
| Dph1 |
A |
G |
11: 75,081,272 (GRCm39) |
V5A |
probably benign |
Het |
| Entpd3 |
A |
G |
9: 120,387,568 (GRCm39) |
Y255C |
probably damaging |
Het |
| Etl4 |
A |
T |
2: 20,811,957 (GRCm39) |
T1715S |
probably damaging |
Het |
| Exd2 |
T |
A |
12: 80,539,334 (GRCm39) |
H466Q |
probably damaging |
Het |
| Fbln2 |
A |
G |
6: 91,246,181 (GRCm39) |
N1056S |
probably damaging |
Het |
| Fcrl5 |
A |
T |
3: 87,351,502 (GRCm39) |
Q250L |
possibly damaging |
Het |
| Fignl2 |
A |
G |
15: 100,951,301 (GRCm39) |
V327A |
unknown |
Het |
| Gm10226 |
T |
A |
17: 21,910,866 (GRCm39) |
C34S |
possibly damaging |
Het |
| H2bc6 |
A |
T |
13: 23,769,938 (GRCm39) |
M1K |
probably null |
Het |
| Kdm6b |
A |
G |
11: 69,296,960 (GRCm39) |
S436P |
possibly damaging |
Het |
| Lmnb2 |
G |
T |
10: 80,753,991 (GRCm39) |
A21E |
possibly damaging |
Het |
| Mcf2l |
A |
T |
8: 12,930,127 (GRCm39) |
E49V |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,290,942 (GRCm39) |
E76G |
|
Het |
| Naa60 |
T |
C |
16: 3,718,573 (GRCm39) |
I135T |
probably benign |
Het |
| Neb |
T |
C |
2: 52,097,713 (GRCm39) |
Y4924C |
possibly damaging |
Het |
| Nlrp10 |
T |
A |
7: 108,524,656 (GRCm39) |
I275F |
probably damaging |
Het |
| Nr3c2 |
T |
C |
8: 77,636,174 (GRCm39) |
V425A |
possibly damaging |
Het |
| Nucb2 |
T |
A |
7: 116,128,248 (GRCm39) |
D286E |
probably damaging |
Het |
| Nynrin |
G |
A |
14: 56,103,420 (GRCm39) |
G755S |
probably damaging |
Het |
| Or5d41 |
T |
C |
2: 88,054,429 (GRCm39) |
T316A |
probably damaging |
Het |
| Padi2 |
T |
A |
4: 140,651,656 (GRCm39) |
D135E |
probably benign |
Het |
| Pcdha6 |
T |
A |
18: 37,103,034 (GRCm39) |
S742R |
probably benign |
Het |
| Pcdhgb5 |
T |
A |
18: 37,866,007 (GRCm39) |
S601T |
probably damaging |
Het |
| Pira13 |
T |
C |
7: 3,826,246 (GRCm39) |
N249S |
unknown |
Het |
| Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
| Prr15l |
T |
C |
11: 96,825,390 (GRCm39) |
W7R |
possibly damaging |
Het |
| Ptpn23 |
G |
A |
9: 110,215,368 (GRCm39) |
H1431Y |
possibly damaging |
Het |
| Rnf20 |
C |
T |
4: 49,644,592 (GRCm39) |
Q286* |
probably null |
Het |
| Rptor |
T |
C |
11: 119,783,453 (GRCm39) |
I1149T |
probably benign |
Het |
| Sfrp2 |
A |
G |
3: 83,674,086 (GRCm39) |
I80V |
probably benign |
Het |
| Slc38a2 |
T |
C |
15: 96,588,033 (GRCm39) |
D497G |
probably benign |
Het |
| Slc43a1 |
T |
A |
2: 84,671,197 (GRCm39) |
M44K |
probably damaging |
Het |
| Stil |
T |
A |
4: 114,890,035 (GRCm39) |
V841E |
possibly damaging |
Het |
| Stip1 |
T |
A |
19: 6,999,141 (GRCm39) |
H479L |
probably benign |
Het |
| Supt6 |
A |
G |
11: 78,100,355 (GRCm39) |
Y1486H |
probably damaging |
Het |
| Taf6 |
T |
C |
5: 138,180,282 (GRCm39) |
D324G |
probably damaging |
Het |
| Tgif1 |
T |
A |
17: 71,158,452 (GRCm39) |
|
probably benign |
Het |
| Tmprss11f |
T |
C |
5: 86,681,605 (GRCm39) |
E216G |
probably benign |
Het |
| Tmprss7 |
C |
A |
16: 45,488,014 (GRCm39) |
A472S |
probably benign |
Het |
| Trpm1 |
T |
A |
7: 63,897,939 (GRCm39) |
F1191I |
probably benign |
Het |
| Tspan12 |
T |
A |
6: 21,836,442 (GRCm39) |
N40I |
probably damaging |
Het |
| Ttll3 |
AAGTA |
AAGTACAGTA |
6: 113,376,120 (GRCm39) |
|
probably null |
Het |
| Unc13c |
A |
T |
9: 73,602,232 (GRCm39) |
I1338N |
probably damaging |
Het |
| Vegfc |
T |
A |
8: 54,530,835 (GRCm39) |
S8T |
unknown |
Het |
| Vmn1r59 |
T |
A |
7: 5,457,634 (GRCm39) |
Q42L |
probably damaging |
Het |
| Vmn2r-ps117 |
A |
T |
17: 19,043,934 (GRCm39) |
I337F |
probably damaging |
Het |
| Xylb |
G |
A |
9: 119,209,766 (GRCm39) |
|
probably null |
Het |
| Zfp551 |
T |
A |
7: 12,152,569 (GRCm39) |
I55F |
probably damaging |
Het |
| Zfp972 |
T |
C |
2: 177,563,532 (GRCm39) |
N27S |
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 |
|
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 |
|
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'- CCCAGAAAGATCAATCTAGGTAGGG -3'
(R):5'- AAGGAGTGTGGTCATCCCTG -3'
Sequencing Primer
(F):5'- GGGAAGACACATAAGTTATAGCCCC -3'
(R):5'- GTGGTCATCCCTGCCTGC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation