Incidental Mutation 'R4853:Capn13'
ID |
373749 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Capn13
|
Ensembl Gene |
ENSMUSG00000043705 |
Gene Name |
calpain 13 |
Synonyms |
LOC381122 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R4853 (G1)
|
Quality Score |
217 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
73613451-73706376 bp(-) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
GCA to G
at 73658501 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: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.8%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim2 |
C |
T |
5: 35,959,766 (GRCm39) |
R73C |
possibly damaging |
Het |
Abr |
T |
C |
11: 76,355,087 (GRCm39) |
T244A |
probably damaging |
Het |
Adcy10 |
T |
A |
1: 165,375,782 (GRCm39) |
N803K |
probably benign |
Het |
Afm |
T |
C |
5: 90,699,326 (GRCm39) |
F590S |
probably damaging |
Het |
Agk |
T |
C |
6: 40,360,753 (GRCm39) |
|
probably null |
Het |
Agrn |
C |
T |
4: 156,270,007 (GRCm39) |
|
probably null |
Het |
Apon |
A |
G |
10: 128,090,951 (GRCm39) |
S210G |
probably benign |
Het |
Atad5 |
A |
G |
11: 79,986,098 (GRCm39) |
E395G |
probably damaging |
Het |
AU018091 |
A |
T |
7: 3,205,861 (GRCm39) |
L671H |
probably damaging |
Het |
Ccdc154 |
A |
T |
17: 25,389,941 (GRCm39) |
I524F |
probably damaging |
Het |
Clspn |
T |
A |
4: 126,460,348 (GRCm39) |
I525K |
probably damaging |
Het |
Cpne5 |
A |
T |
17: 29,380,172 (GRCm39) |
V448E |
probably benign |
Het |
Cps1 |
A |
G |
1: 67,195,361 (GRCm39) |
I261V |
possibly damaging |
Het |
Crybb2 |
T |
C |
5: 113,211,054 (GRCm39) |
E78G |
probably damaging |
Het |
Ctps1 |
G |
T |
4: 120,411,207 (GRCm39) |
L270I |
probably damaging |
Het |
Cyp19a1 |
T |
C |
9: 54,074,060 (GRCm39) |
D431G |
probably benign |
Het |
Cyp3a57 |
T |
G |
5: 145,302,489 (GRCm39) |
V95G |
probably damaging |
Het |
Ddx54 |
A |
G |
5: 120,761,694 (GRCm39) |
D490G |
probably benign |
Het |
Dnai2 |
A |
T |
11: 114,635,917 (GRCm39) |
I301F |
probably benign |
Het |
Dsg1b |
A |
G |
18: 20,541,793 (GRCm39) |
S767G |
probably benign |
Het |
Dsg1b |
A |
T |
18: 20,523,189 (GRCm39) |
|
probably null |
Het |
Ermap |
G |
A |
4: 119,044,451 (GRCm39) |
P115L |
probably damaging |
Het |
Esrra |
T |
G |
19: 6,897,440 (GRCm39) |
T106P |
probably damaging |
Het |
Exoc5 |
GTATT |
GT |
14: 49,289,826 (GRCm39) |
|
probably benign |
Het |
Flt1 |
C |
A |
5: 147,620,749 (GRCm39) |
A132S |
probably benign |
Het |
Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
Gnl3 |
T |
C |
14: 30,737,270 (GRCm39) |
K203E |
probably damaging |
Het |
H2ac13 |
A |
G |
13: 21,900,866 (GRCm39) |
E92G |
probably damaging |
Het |
Habp2 |
G |
A |
19: 56,299,623 (GRCm39) |
|
probably null |
Het |
Kcnh3 |
A |
C |
15: 99,139,970 (GRCm39) |
D952A |
possibly damaging |
Het |
Kif27 |
T |
C |
13: 58,459,072 (GRCm39) |
K920E |
probably benign |
Het |
Kmt2e |
C |
T |
5: 23,707,339 (GRCm39) |
P1634L |
probably damaging |
Het |
Lamc1 |
A |
T |
1: 153,104,846 (GRCm39) |
M1312K |
possibly damaging |
Het |
Myh14 |
T |
A |
7: 44,257,872 (GRCm39) |
Q1921L |
probably damaging |
Het |
Ncor2 |
A |
G |
5: 125,102,169 (GRCm39) |
V68A |
probably damaging |
Het |
Ncor2 |
A |
G |
5: 125,158,247 (GRCm39) |
F444L |
unknown |
Het |
Nedd9 |
A |
G |
13: 41,469,837 (GRCm39) |
Y439H |
probably benign |
Het |
Nsd1 |
T |
A |
13: 55,416,317 (GRCm39) |
H1454Q |
probably benign |
Het |
Or10v9 |
T |
A |
19: 11,832,645 (GRCm39) |
D224V |
probably benign |
Het |
Or51v8 |
G |
T |
7: 103,320,010 (GRCm39) |
T76K |
probably damaging |
Het |
Or5i1 |
T |
G |
2: 87,613,526 (GRCm39) |
F214C |
probably benign |
Het |
Or9m1b |
A |
G |
2: 87,836,448 (GRCm39) |
S216P |
probably damaging |
Het |
P4ha2 |
G |
A |
11: 54,010,996 (GRCm39) |
S337N |
probably benign |
Het |
Pck1 |
T |
A |
2: 172,996,507 (GRCm39) |
Y140* |
probably null |
Het |
Phldb2 |
T |
C |
16: 45,623,079 (GRCm39) |
M656V |
probably damaging |
Het |
Pif1 |
T |
C |
9: 65,500,858 (GRCm39) |
W559R |
probably damaging |
Het |
Pllp |
T |
C |
8: 95,406,022 (GRCm39) |
Y87C |
probably damaging |
Het |
Ppp1r3a |
T |
C |
6: 14,719,046 (GRCm39) |
N623D |
probably benign |
Het |
Prkcg |
C |
T |
7: 3,367,469 (GRCm39) |
R345C |
probably damaging |
Het |
Rgl1 |
T |
C |
1: 152,433,325 (GRCm39) |
I147V |
probably benign |
Het |
Sdk1 |
T |
A |
5: 142,132,018 (GRCm39) |
L1649Q |
probably damaging |
Het |
Sema3b |
C |
T |
9: 107,479,266 (GRCm39) |
|
probably null |
Het |
Sh3rf3 |
G |
A |
10: 58,919,341 (GRCm39) |
R486H |
probably damaging |
Het |
Shoc1 |
T |
C |
4: 59,072,345 (GRCm39) |
K624E |
possibly damaging |
Het |
Slain2 |
A |
G |
5: 73,105,941 (GRCm39) |
N192S |
probably benign |
Het |
Slc22a16 |
T |
A |
10: 40,450,047 (GRCm39) |
I161N |
probably damaging |
Het |
Strip1 |
T |
C |
3: 107,524,232 (GRCm39) |
K562E |
possibly damaging |
Het |
Sumf1 |
A |
G |
6: 108,162,456 (GRCm39) |
L21S |
probably benign |
Het |
Sytl3 |
T |
A |
17: 7,005,164 (GRCm39) |
S380T |
probably damaging |
Het |
Tgfb1i1 |
T |
A |
7: 127,847,840 (GRCm39) |
C74* |
probably null |
Het |
Tmprss15 |
T |
G |
16: 78,757,479 (GRCm39) |
I939L |
probably benign |
Het |
Tpsb2 |
GGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTG |
17: 25,585,536 (GRCm39) |
|
probably benign |
Het |
Vwde |
A |
T |
6: 13,215,639 (GRCm39) |
V139E |
probably damaging |
Het |
Wdr27 |
A |
G |
17: 15,137,475 (GRCm39) |
|
probably null |
Het |
Zkscan14 |
A |
G |
5: 145,132,001 (GRCm39) |
V510A |
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 |
|
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'- ATGATATGTGTTTGGAATCCCTGC -3'
(R):5'- TTCTCTTCTCCTGAGAGGGC -3'
Sequencing Primer
(F):5'- TTTGGAATCCCTGCCTCAGAGAG -3'
(R):5'- CCATGGGTCCCCTGTAGATG -3'
|
Posted On |
2016-03-01 |