Incidental Mutation 'R7678:Capn13'
| ID |
592608 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capn13
|
| Ensembl Gene |
ENSMUSG00000043705 |
| Gene Name |
calpain 13 |
| Synonyms |
LOC381122 |
| MMRRC Submission |
045745-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R7678 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
73613451-73706376 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 73622300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 663
(M663I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095208]
|
| AlphaFold |
Q3UW68 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095208
AA Change: M663I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092832
Gene: ENSMUSG00000043705
AA Change: M663I
| 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 |
0.2444 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (67/68) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
C |
A |
5: 8,137,750 (GRCm39) |
|
probably null |
Het |
| Ank1 |
A |
G |
8: 23,607,074 (GRCm39) |
D1325G |
probably damaging |
Het |
| Asxl1 |
T |
C |
2: 153,242,572 (GRCm39) |
S1042P |
probably damaging |
Het |
| Bpifb1 |
C |
T |
2: 154,044,649 (GRCm39) |
H39Y |
possibly damaging |
Het |
| Cemip2 |
C |
A |
19: 21,775,480 (GRCm39) |
T241K |
probably damaging |
Het |
| Clec2g |
A |
G |
6: 128,956,400 (GRCm39) |
E72G |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,558,768 (GRCm39) |
Y1899F |
probably damaging |
Het |
| Ctbp2 |
A |
G |
7: 132,616,353 (GRCm39) |
V194A |
probably benign |
Het |
| Cttnbp2 |
G |
T |
6: 18,382,809 (GRCm39) |
L1320I |
probably damaging |
Het |
| E2f2 |
T |
A |
4: 135,920,137 (GRCm39) |
L374* |
probably null |
Het |
| Echdc3 |
C |
T |
2: 6,217,687 (GRCm39) |
G29S |
probably benign |
Het |
| Ecm1 |
A |
G |
3: 95,643,494 (GRCm39) |
S269P |
probably damaging |
Het |
| Elmo2 |
G |
A |
2: 165,133,664 (GRCm39) |
P775S |
unknown |
Het |
| Eno3 |
T |
A |
11: 70,549,993 (GRCm39) |
|
probably null |
Het |
| Faf1 |
G |
A |
4: 109,687,061 (GRCm39) |
R267K |
probably benign |
Het |
| Fam162a |
G |
A |
16: 35,870,307 (GRCm39) |
|
probably benign |
Het |
| Fam178b |
T |
A |
1: 36,603,532 (GRCm39) |
D473V |
probably damaging |
Het |
| Fat2 |
G |
A |
11: 55,173,156 (GRCm39) |
T2519I |
probably damaging |
Het |
| Foxc2 |
A |
G |
8: 121,844,834 (GRCm39) |
Y494C |
probably damaging |
Het |
| Gcnt2 |
C |
A |
13: 41,107,195 (GRCm39) |
Q355K |
probably benign |
Het |
| Glg1 |
G |
T |
8: 111,905,497 (GRCm39) |
H595N |
probably benign |
Het |
| Gm9913 |
A |
T |
2: 125,348,480 (GRCm39) |
H97L |
unknown |
Het |
| Hbegf |
T |
A |
18: 36,640,601 (GRCm39) |
N152I |
possibly damaging |
Het |
| Hipk1 |
G |
A |
3: 103,667,866 (GRCm39) |
T567I |
probably damaging |
Het |
| Idh3a |
C |
T |
9: 54,502,453 (GRCm39) |
P78S |
probably damaging |
Het |
| Igsf10 |
A |
T |
3: 59,226,761 (GRCm39) |
M2304K |
possibly damaging |
Het |
| Inf2 |
A |
G |
12: 112,573,428 (GRCm39) |
T723A |
unknown |
Het |
| Itpr2 |
A |
T |
6: 146,089,048 (GRCm39) |
F2220Y |
probably benign |
Het |
| Kpnb1 |
C |
T |
11: 97,059,999 (GRCm39) |
R557Q |
probably damaging |
Het |
| Lefty1 |
A |
G |
1: 180,764,325 (GRCm39) |
D155G |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,409,922 (GRCm39) |
C1554R |
probably damaging |
Het |
| Lrrc10 |
A |
G |
10: 116,881,662 (GRCm39) |
D112G |
probably benign |
Het |
| Med12l |
A |
G |
3: 58,984,141 (GRCm39) |
E439G |
probably damaging |
Het |
| Ms4a7 |
A |
T |
19: 11,301,868 (GRCm39) |
F185Y |
probably benign |
Het |
| Mtmr6 |
T |
A |
14: 60,527,101 (GRCm39) |
M234K |
probably damaging |
Het |
| Myh7b |
C |
A |
2: 155,459,698 (GRCm39) |
|
probably null |
Het |
| Myo1d |
T |
C |
11: 80,567,719 (GRCm39) |
M254V |
possibly damaging |
Het |
| Nbas |
T |
C |
12: 13,465,662 (GRCm39) |
V1368A |
probably damaging |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Neb |
A |
G |
2: 52,096,714 (GRCm39) |
V4999A |
probably damaging |
Het |
| Npbwr1 |
G |
T |
1: 5,986,927 (GRCm39) |
Q196K |
probably benign |
Het |
| Nsd3 |
A |
T |
8: 26,149,833 (GRCm39) |
E339D |
possibly damaging |
Het |
| Oog4 |
CAA |
CA |
4: 143,164,022 (GRCm39) |
|
probably null |
Het |
| Or11g1 |
T |
C |
14: 50,651,471 (GRCm39) |
F157L |
probably damaging |
Het |
| Or6c206 |
A |
G |
10: 129,096,937 (GRCm39) |
S36G |
probably damaging |
Het |
| Or7d11 |
T |
C |
9: 19,965,901 (GRCm39) |
N168S |
probably damaging |
Het |
| Plxna1 |
C |
T |
6: 89,308,882 (GRCm39) |
V1199M |
probably damaging |
Het |
| Ppfibp2 |
T |
A |
7: 107,315,873 (GRCm39) |
M285K |
probably damaging |
Het |
| Ppip5k1 |
A |
G |
2: 121,168,142 (GRCm39) |
Y704H |
probably damaging |
Het |
| Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
| Sbspon |
T |
C |
1: 15,929,282 (GRCm39) |
M170V |
probably benign |
Het |
| Scfd2 |
A |
C |
5: 74,619,297 (GRCm39) |
F440V |
probably benign |
Het |
| Slc22a19 |
T |
A |
19: 7,688,302 (GRCm39) |
D86V |
possibly damaging |
Het |
| Smg5 |
A |
G |
3: 88,261,202 (GRCm39) |
N685S |
possibly damaging |
Het |
| Spata46 |
A |
G |
1: 170,139,333 (GRCm39) |
R111G |
possibly damaging |
Het |
| Sry |
A |
T |
Y: 2,663,248 (GRCm39) |
D137E |
possibly damaging |
Het |
| Tbkbp1 |
T |
C |
11: 97,040,309 (GRCm39) |
D35G |
probably damaging |
Het |
| Tcf20 |
A |
T |
15: 82,735,766 (GRCm39) |
V1895D |
possibly damaging |
Het |
| Tfap4 |
G |
T |
16: 4,369,630 (GRCm39) |
Q112K |
possibly damaging |
Het |
| Trmt10c |
T |
A |
16: 55,855,302 (GRCm39) |
D111V |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,688,881 (GRCm39) |
I2415T |
probably benign |
Het |
| Vmn2r107 |
A |
T |
17: 20,576,901 (GRCm39) |
M300L |
probably benign |
Het |
| Vmn2r5 |
A |
T |
3: 64,416,943 (GRCm39) |
F72I |
probably benign |
Het |
| Vmn2r53 |
T |
A |
7: 12,332,425 (GRCm39) |
H408L |
probably benign |
Het |
| Zan |
C |
T |
5: 137,461,802 (GRCm39) |
V1126M |
unknown |
Het |
| Zfp493 |
A |
T |
13: 67,927,814 (GRCm39) |
|
probably benign |
Het |
| Zfp618 |
C |
A |
4: 63,004,858 (GRCm39) |
A86E |
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 |
|
|
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'- GCTCCCGAAGATACACTTTCTG -3'
(R):5'- ACTGGCTTTAAGAATTGGTTCCAC -3'
Sequencing Primer
(F):5'- GAAGATACACTTTCTGAAGCCTCAG -3'
(R):5'- ATCCCTGAAATGTGATGGCC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation