Incidental Mutation 'R7425:Capn13'
| ID |
576023 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capn13
|
| Ensembl Gene |
ENSMUSG00000043705 |
| Gene Name |
calpain 13 |
| Synonyms |
LOC381122 |
| MMRRC Submission |
045503-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R7425 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
73613451-73706376 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73625053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 632
(I632M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095208]
|
| AlphaFold |
Q3UW68 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095208
AA Change: I632M
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000092832
Gene: ENSMUSG00000043705
AA Change: I632M
| 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: 99.3%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,771,456 (GRCm39) |
E215G |
probably benign |
Het |
| Adam8 |
T |
A |
7: 139,572,394 (GRCm39) |
|
probably benign |
Het |
| Ankrd35 |
A |
G |
3: 96,592,104 (GRCm39) |
S797G |
not run |
Het |
| Anxa3 |
T |
A |
5: 96,982,680 (GRCm39) |
H259Q |
probably benign |
Het |
| Ap3d1 |
T |
A |
10: 80,557,426 (GRCm39) |
Q302L |
probably damaging |
Het |
| Atg2a |
T |
C |
19: 6,305,682 (GRCm39) |
V1294A |
probably benign |
Het |
| Atp13a5 |
G |
A |
16: 29,116,278 (GRCm39) |
Q613* |
probably null |
Het |
| Bltp1 |
T |
A |
3: 37,002,490 (GRCm39) |
H1478Q |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,037,543 (GRCm39) |
H2448L |
probably benign |
Het |
| Bmpr2 |
T |
G |
1: 59,906,510 (GRCm39) |
N534K |
probably benign |
Het |
| C1qbp |
T |
C |
11: 70,869,072 (GRCm39) |
|
probably null |
Het |
| C1qbp |
G |
T |
11: 70,869,073 (GRCm39) |
|
probably null |
Het |
| C1ql3 |
T |
G |
2: 13,015,229 (GRCm39) |
K144Q |
possibly damaging |
Het |
| C3 |
T |
C |
17: 57,511,039 (GRCm39) |
M1656V |
possibly damaging |
Het |
| Cand1 |
A |
T |
10: 119,052,148 (GRCm39) |
Y252N |
probably benign |
Het |
| Catsperb |
A |
G |
12: 101,557,757 (GRCm39) |
E776G |
probably damaging |
Het |
| Ccnl1 |
A |
T |
3: 65,856,179 (GRCm39) |
V242D |
probably damaging |
Het |
| Cd68 |
T |
C |
11: 69,555,938 (GRCm39) |
D200G |
probably benign |
Het |
| Cela3a |
T |
C |
4: 137,132,899 (GRCm39) |
N118D |
probably benign |
Het |
| Celsr2 |
A |
G |
3: 108,309,773 (GRCm39) |
C1609R |
probably damaging |
Het |
| Cep85l |
G |
C |
10: 53,177,666 (GRCm39) |
Q458E |
probably damaging |
Het |
| Cnga1 |
T |
G |
5: 72,766,868 (GRCm39) |
E190D |
probably benign |
Het |
| Cntnap3 |
G |
A |
13: 64,906,066 (GRCm39) |
R847C |
probably damaging |
Het |
| Cntrob |
G |
A |
11: 69,205,560 (GRCm39) |
Q425* |
probably null |
Het |
| Commd9 |
G |
A |
2: 101,730,245 (GRCm39) |
W128* |
probably null |
Het |
| Csnk1a1 |
C |
T |
18: 61,718,330 (GRCm39) |
S352L |
unknown |
Het |
| Dact2 |
A |
G |
17: 14,416,593 (GRCm39) |
S536P |
probably damaging |
Het |
| Ddx25 |
A |
G |
9: 35,465,882 (GRCm39) |
I113T |
probably benign |
Het |
| Dscam |
T |
A |
16: 96,430,598 (GRCm39) |
D1630V |
probably damaging |
Het |
| Fndc7 |
A |
C |
3: 108,783,975 (GRCm39) |
F211L |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,262,091 (GRCm39) |
T559A |
probably damaging |
Het |
| Hpx |
C |
A |
7: 105,241,068 (GRCm39) |
D402Y |
probably damaging |
Het |
| Ints13 |
A |
G |
6: 146,476,198 (GRCm39) |
|
probably null |
Het |
| Ipcef1 |
T |
C |
10: 6,906,066 (GRCm39) |
K76E |
probably damaging |
Het |
| Kcnb2 |
A |
C |
1: 15,780,031 (GRCm39) |
Q301P |
probably damaging |
Het |
| Lamp3 |
C |
T |
16: 19,518,362 (GRCm39) |
|
probably null |
Het |
| Lmod2 |
A |
T |
6: 24,603,475 (GRCm39) |
H150L |
probably benign |
Het |
| Lrch3 |
T |
C |
16: 32,826,077 (GRCm39) |
F718S |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,596,287 (GRCm39) |
V1082A |
probably benign |
Het |
| Nbas |
G |
T |
12: 13,519,881 (GRCm39) |
V1598L |
probably damaging |
Het |
| Nrxn3 |
C |
T |
12: 89,479,870 (GRCm39) |
R671* |
probably null |
Het |
| Or4c110 |
A |
T |
2: 88,832,544 (GRCm39) |
F29L |
|
Het |
| Or4c58 |
A |
G |
2: 89,674,789 (GRCm39) |
L176P |
probably damaging |
Het |
| Or52e8 |
A |
T |
7: 104,624,268 (GRCm39) |
L312* |
probably null |
Het |
| Or5a3 |
A |
C |
19: 12,400,204 (GRCm39) |
H177P |
probably damaging |
Het |
| Or6d14 |
A |
T |
6: 116,533,398 (GRCm39) |
E4V |
possibly damaging |
Het |
| Pcdhga6 |
T |
A |
18: 37,841,619 (GRCm39) |
N446K |
probably damaging |
Het |
| Phlpp1 |
A |
T |
1: 106,320,303 (GRCm39) |
I1433F |
probably benign |
Het |
| Pla2g6 |
G |
A |
15: 79,192,933 (GRCm39) |
R245C |
probably damaging |
Het |
| Rgl3 |
G |
A |
9: 21,888,123 (GRCm39) |
Q464* |
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,720,530 (GRCm39) |
D2706G |
probably benign |
Het |
| Sbf2 |
G |
A |
7: 109,974,984 (GRCm39) |
Q718* |
probably null |
Het |
| Sdad1 |
T |
C |
5: 92,447,980 (GRCm39) |
T252A |
probably benign |
Het |
| Sgk1 |
T |
C |
10: 21,870,009 (GRCm39) |
L16P |
probably damaging |
Het |
| Slc38a8 |
A |
G |
8: 120,212,327 (GRCm39) |
S339P |
possibly damaging |
Het |
| Slc44a4 |
T |
C |
17: 35,140,667 (GRCm39) |
S287P |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,375,760 (GRCm39) |
I111V |
probably damaging |
Het |
| Synm |
A |
C |
7: 67,383,194 (GRCm39) |
S1489R |
probably damaging |
Het |
| Tfb2m |
A |
G |
1: 179,365,269 (GRCm39) |
F232L |
probably benign |
Het |
| Traf3 |
A |
T |
12: 111,227,095 (GRCm39) |
K328* |
probably null |
Het |
| Trim38 |
C |
A |
13: 23,972,365 (GRCm39) |
Q229K |
probably benign |
Het |
| Vcan |
A |
G |
13: 89,837,951 (GRCm39) |
I2531T |
probably damaging |
Het |
| Virma |
T |
A |
4: 11,546,211 (GRCm39) |
I1683N |
possibly damaging |
Het |
| Vmn1r18 |
A |
T |
6: 57,367,551 (GRCm39) |
M1K |
probably null |
Het |
| Vmn2r87 |
T |
C |
10: 130,314,761 (GRCm39) |
N275S |
probably damaging |
Het |
| Vps13a |
T |
A |
19: 16,701,066 (GRCm39) |
H701L |
probably benign |
Het |
| Vrk3 |
T |
A |
7: 44,420,348 (GRCm39) |
|
probably null |
Het |
| Zfp993 |
T |
A |
4: 146,742,098 (GRCm39) |
S141T |
possibly damaging |
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 |
|
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'- ACTTGAAGTCTCAGTGCCTTG -3'
(R):5'- ATAGATGGCTGCTGGACCATC -3'
Sequencing Primer
(F):5'- GGCCCTCTTAGATCATGAGAGTC -3'
(R):5'- GCTGCTGGACCATCTTAGTAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation