Incidental Mutation 'R9337:Capn13'
| ID |
707270 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capn13
|
| Ensembl Gene |
ENSMUSG00000043705 |
| Gene Name |
calpain 13 |
| Synonyms |
LOC381122 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R9337 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
73613451-73706376 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 73633467 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 null
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (65/65) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
| Adad1 |
T |
C |
3: 37,139,247 (GRCm39) |
V439A |
possibly damaging |
Het |
| Ahnak |
G |
A |
19: 8,989,824 (GRCm39) |
|
probably benign |
Het |
| Arhgef10l |
G |
A |
4: 140,338,624 (GRCm39) |
T46I |
probably damaging |
Het |
| C3ar1 |
A |
G |
6: 122,827,278 (GRCm39) |
V313A |
probably benign |
Het |
| Ccdc30 |
T |
A |
4: 119,190,920 (GRCm39) |
|
probably null |
Het |
| Ccdc7a |
T |
C |
8: 129,616,319 (GRCm39) |
Q928R |
probably benign |
Het |
| Cept1 |
A |
G |
3: 106,412,575 (GRCm39) |
L299S |
possibly damaging |
Het |
| Clba1 |
T |
C |
12: 112,775,898 (GRCm39) |
L218P |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,468,448 (GRCm39) |
I1460M |
probably damaging |
Het |
| Col4a2 |
T |
C |
8: 11,479,346 (GRCm39) |
L743P |
probably benign |
Het |
| Cop1 |
T |
C |
1: 159,072,221 (GRCm39) |
V179A |
probably benign |
Het |
| Cpvl |
A |
G |
6: 53,909,479 (GRCm39) |
I219T |
probably damaging |
Het |
| Cyc1 |
T |
C |
15: 76,228,506 (GRCm39) |
V45A |
probably benign |
Het |
| Dnhd1 |
T |
A |
7: 105,369,806 (GRCm39) |
N4410K |
probably benign |
Het |
| Dok4 |
T |
A |
8: 95,593,469 (GRCm39) |
T106S |
probably benign |
Het |
| Exosc10 |
T |
C |
4: 148,665,588 (GRCm39) |
F842L |
probably damaging |
Het |
| Fam24b |
T |
A |
7: 130,927,949 (GRCm39) |
Y80F |
probably benign |
Het |
| Fbn2 |
G |
A |
18: 58,342,723 (GRCm39) |
A52V |
probably benign |
Het |
| Gal3st3 |
A |
T |
19: 5,356,868 (GRCm39) |
N81I |
probably damaging |
Het |
| Gm13283 |
T |
A |
4: 88,679,036 (GRCm39) |
V9E |
possibly damaging |
Het |
| Gm17026 |
A |
G |
14: 42,080,873 (GRCm39) |
S58P |
|
Het |
| Grm8 |
A |
T |
6: 27,761,214 (GRCm39) |
S337T |
probably benign |
Het |
| Hdac5 |
G |
A |
11: 102,096,178 (GRCm39) |
P332S |
probably damaging |
Het |
| Hr |
A |
T |
14: 70,797,324 (GRCm39) |
E519V |
probably benign |
Het |
| Hspbap1 |
A |
G |
16: 35,645,395 (GRCm39) |
H360R |
probably benign |
Het |
| Iqgap3 |
T |
G |
3: 88,023,425 (GRCm39) |
|
probably null |
Het |
| Krtap5-3 |
T |
A |
7: 141,756,267 (GRCm39) |
H175Q |
unknown |
Het |
| Lrrn4 |
A |
T |
2: 132,712,552 (GRCm39) |
S424T |
probably benign |
Het |
| Lsm10 |
C |
A |
4: 125,991,660 (GRCm39) |
H5Q |
probably damaging |
Het |
| Megf10 |
A |
T |
18: 57,394,252 (GRCm39) |
K459* |
probably null |
Het |
| Myo15b |
A |
C |
11: 115,749,861 (GRCm39) |
K210N |
|
Het |
| Or12e7 |
T |
A |
2: 87,287,527 (GRCm39) |
I6N |
probably benign |
Het |
| Or8k38 |
T |
C |
2: 86,488,476 (GRCm39) |
T109A |
probably benign |
Het |
| Park7 |
A |
T |
4: 150,991,553 (GRCm39) |
C46S |
probably damaging |
Het |
| Pik3cb |
A |
G |
9: 98,943,844 (GRCm39) |
F653S |
probably damaging |
Het |
| Plekha1 |
T |
A |
7: 130,511,348 (GRCm39) |
C311S |
possibly damaging |
Het |
| Pprc1 |
T |
A |
19: 46,052,198 (GRCm39) |
M576K |
unknown |
Het |
| Prelid3b |
G |
A |
2: 174,310,161 (GRCm39) |
T74M |
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,327,116 (GRCm39) |
Y311C |
probably damaging |
Het |
| Prom2 |
A |
C |
2: 127,371,094 (GRCm39) |
V801G |
probably damaging |
Het |
| Psmd9 |
T |
A |
5: 123,386,387 (GRCm39) |
V44D |
probably damaging |
Het |
| Ptpn3 |
C |
G |
4: 57,218,521 (GRCm39) |
L647F |
probably damaging |
Het |
| Ptprj |
T |
C |
2: 90,270,238 (GRCm39) |
D1286G |
probably damaging |
Het |
| Rcc2 |
T |
C |
4: 140,445,689 (GRCm39) |
I449T |
probably damaging |
Het |
| Rev3l |
A |
T |
10: 39,698,850 (GRCm39) |
S1116C |
probably benign |
Het |
| Rnf212 |
A |
T |
5: 108,922,755 (GRCm39) |
S32T |
possibly damaging |
Het |
| Rnf40 |
T |
A |
7: 127,188,172 (GRCm39) |
S2T |
probably benign |
Het |
| Rrp8 |
T |
C |
7: 105,383,384 (GRCm39) |
D294G |
probably damaging |
Het |
| Rtf2 |
A |
T |
2: 172,308,205 (GRCm39) |
K201N |
probably damaging |
Het |
| Runx3 |
A |
G |
4: 134,890,574 (GRCm39) |
T173A |
probably damaging |
Het |
| Sardh |
T |
C |
2: 27,086,678 (GRCm39) |
I827M |
probably benign |
Het |
| Sec22b |
T |
C |
3: 97,828,494 (GRCm39) |
Y186H |
probably benign |
Het |
| Serpina5 |
C |
T |
12: 104,071,542 (GRCm39) |
T383I |
possibly damaging |
Het |
| Slc12a2 |
A |
G |
18: 58,063,238 (GRCm39) |
D906G |
probably damaging |
Het |
| Socs1 |
T |
C |
16: 10,602,578 (GRCm39) |
D53G |
possibly damaging |
Het |
| Stat1 |
G |
T |
1: 52,191,429 (GRCm39) |
A595S |
probably benign |
Het |
| Stat3 |
A |
T |
11: 100,798,815 (GRCm39) |
|
probably null |
Het |
| Styxl1 |
T |
C |
5: 135,794,592 (GRCm39) |
S82G |
probably benign |
Het |
| Taf1b |
T |
A |
12: 24,597,121 (GRCm39) |
D353E |
possibly damaging |
Het |
| Tbce |
T |
C |
13: 14,194,398 (GRCm39) |
K87R |
probably benign |
Het |
| Thada |
T |
C |
17: 84,749,205 (GRCm39) |
M589V |
probably benign |
Het |
| Them5 |
A |
G |
3: 94,254,048 (GRCm39) |
M257V |
unknown |
Het |
| Tln1 |
A |
T |
4: 43,532,927 (GRCm39) |
I2425N |
probably damaging |
Het |
| Tuba8 |
A |
G |
6: 121,202,823 (GRCm39) |
S379G |
probably damaging |
Het |
| Vrk1 |
T |
C |
12: 106,024,957 (GRCm39) |
|
probably null |
Het |
| Zbtb34 |
T |
C |
2: 33,301,716 (GRCm39) |
Y275C |
probably damaging |
Het |
| Zcwpw1 |
T |
C |
5: 137,799,274 (GRCm39) |
C214R |
probably benign |
Het |
| Zeb2 |
A |
G |
2: 44,912,912 (GRCm39) |
V137A |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2022-04-18 |
Incidental Mutation