Incidental Mutation 'R1594:Capn13'
| ID |
175589 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capn13
|
| Ensembl Gene |
ENSMUSG00000043705 |
| Gene Name |
calpain 13 |
| Synonyms |
LOC381122 |
| MMRRC Submission |
039631-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R1594 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
73613451-73706376 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73658474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 198
(V198A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095208]
|
| AlphaFold |
Q3UW68 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095208
AA Change: V198A
PolyPhen 2
Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000092832
Gene: ENSMUSG00000043705
AA Change: V198A
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.7%
|
| Validation Efficiency |
100% (55/55) |
| 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 |
|---|
| Acap2 |
G |
A |
16: 30,946,205 (GRCm39) |
A264V |
probably benign |
Het |
| Adam17 |
A |
G |
12: 21,390,471 (GRCm39) |
|
probably null |
Het |
| Adcy10 |
A |
G |
1: 165,352,602 (GRCm39) |
N479D |
probably benign |
Het |
| C2cd2l |
A |
G |
9: 44,228,070 (GRCm39) |
S84P |
probably damaging |
Het |
| Cblc |
G |
A |
7: 19,526,471 (GRCm39) |
S206F |
probably damaging |
Het |
| Ccdc7b |
A |
T |
8: 129,904,838 (GRCm39) |
T159S |
possibly damaging |
Het |
| Clpx |
A |
G |
9: 65,231,552 (GRCm39) |
T546A |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 76,948,870 (GRCm39) |
V214A |
possibly damaging |
Het |
| Csgalnact1 |
A |
T |
8: 68,811,284 (GRCm39) |
V462E |
probably damaging |
Het |
| Cts6 |
G |
A |
13: 61,346,181 (GRCm39) |
T202I |
probably damaging |
Het |
| Cwf19l2 |
A |
G |
9: 3,430,973 (GRCm39) |
Y435C |
probably benign |
Het |
| D630003M21Rik |
T |
A |
2: 158,053,550 (GRCm39) |
Q646L |
probably damaging |
Het |
| E2f2 |
A |
G |
4: 135,914,141 (GRCm39) |
Q297R |
possibly damaging |
Het |
| Eef1d |
T |
C |
15: 75,768,195 (GRCm39) |
E189G |
probably damaging |
Het |
| Fam114a2 |
A |
C |
11: 57,404,066 (GRCm39) |
|
probably null |
Het |
| Fam24b |
A |
C |
7: 130,928,025 (GRCm39) |
Y55D |
probably benign |
Het |
| Gimap6 |
T |
C |
6: 48,679,125 (GRCm39) |
T304A |
probably benign |
Het |
| Gm11232 |
T |
C |
4: 71,675,572 (GRCm39) |
E63G |
possibly damaging |
Het |
| Hbs1l |
A |
G |
10: 21,227,922 (GRCm39) |
M152V |
probably benign |
Het |
| Herc3 |
C |
A |
6: 58,864,569 (GRCm39) |
|
probably benign |
Het |
| Hmx2 |
A |
G |
7: 131,157,231 (GRCm39) |
D115G |
probably benign |
Het |
| Igsf3 |
C |
A |
3: 101,358,393 (GRCm39) |
Y761* |
probably null |
Het |
| Kbtbd13 |
A |
G |
9: 65,298,901 (GRCm39) |
W12R |
probably benign |
Het |
| Kif2c |
C |
A |
4: 117,035,385 (GRCm39) |
R21L |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,519,876 (GRCm39) |
N2078S |
probably benign |
Het |
| Mgst3 |
T |
A |
1: 167,201,379 (GRCm39) |
Y102F |
probably damaging |
Het |
| Mov10 |
G |
T |
3: 104,702,727 (GRCm39) |
T946N |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,344,450 (GRCm39) |
I2317N |
possibly damaging |
Het |
| Nid2 |
T |
A |
14: 19,831,329 (GRCm39) |
I741N |
probably benign |
Het |
| Nlrp9a |
G |
A |
7: 26,269,932 (GRCm39) |
W786* |
probably null |
Het |
| Or8g20 |
A |
C |
9: 39,396,042 (GRCm39) |
I166S |
probably benign |
Het |
| Or9a7 |
T |
C |
6: 40,521,281 (GRCm39) |
I211V |
probably benign |
Het |
| Pi4ka |
G |
T |
16: 17,191,283 (GRCm39) |
|
probably benign |
Het |
| Plcb4 |
A |
G |
2: 135,812,310 (GRCm39) |
|
probably benign |
Het |
| Psg16 |
A |
G |
7: 16,827,748 (GRCm39) |
T144A |
probably damaging |
Het |
| Sec24b |
A |
G |
3: 129,785,000 (GRCm39) |
V1002A |
probably benign |
Het |
| Shank1 |
A |
T |
7: 43,976,647 (GRCm39) |
K582* |
probably null |
Het |
| Slc22a7 |
T |
C |
17: 46,748,957 (GRCm39) |
D120G |
possibly damaging |
Het |
| Slco6c1 |
T |
A |
1: 96,990,163 (GRCm39) |
T676S |
probably benign |
Het |
| Sulf2 |
A |
G |
2: 165,926,367 (GRCm39) |
|
probably benign |
Het |
| Tgm1 |
T |
C |
14: 55,946,976 (GRCm39) |
D344G |
probably damaging |
Het |
| Tle4 |
C |
T |
19: 14,430,970 (GRCm39) |
W604* |
probably null |
Het |
| Tmco3 |
T |
C |
8: 13,342,052 (GRCm39) |
S109P |
probably damaging |
Het |
| Unc13d |
T |
G |
11: 115,959,538 (GRCm39) |
D647A |
probably benign |
Het |
| Usp19 |
T |
C |
9: 108,375,721 (GRCm39) |
V887A |
probably damaging |
Het |
| Vmn2r49 |
A |
T |
7: 9,710,550 (GRCm39) |
D727E |
probably damaging |
Het |
| Ypel1 |
A |
G |
16: 16,899,985 (GRCm39) |
H72R |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,227,456 (GRCm39) |
V2051A |
probably benign |
Het |
| Zfp438 |
A |
G |
18: 5,213,515 (GRCm39) |
L481P |
possibly damaging |
Het |
| Zfp850 |
C |
A |
7: 27,688,816 (GRCm39) |
R464L |
probably benign |
Het |
| Zfp985 |
T |
C |
4: 147,667,537 (GRCm39) |
V135A |
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 |
|
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'- CCCTGAACTGTGTGACTCGGAAAC -3'
(R):5'- GGGGAAGTCCCTCAAATAGGCAAC -3'
Sequencing Primer
(F):5'- TGACTCGGAAACTTCGCTTAG -3'
(R):5'- CAACATGCACAGGGTTGATG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation