Incidental Mutation 'IGL01758:Capn12'
| ID |
153484 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Capn12
|
| Ensembl Gene |
ENSMUSG00000054083 |
| Gene Name |
calpain 12 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01758
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
28580890-28593010 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 28586048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069055
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066880]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000066880
|
| SMART Domains |
Protein: ENSMUSP00000069055
Gene: ENSMUSG00000054083
| Domain | Start | End | E-Value | Type |
|---|
|
CysPc
|
27 |
349 |
7.8e-139 |
SMART |
|
calpain_III
|
353 |
529 |
7.47e-72 |
SMART |
|
SCOP:d1alva_
|
552 |
720 |
3e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208228
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208238
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208299
|
| Coding Region Coverage |
|
| 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 |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
C |
11: 119,901,645 (GRCm39) |
D860G |
possibly damaging |
Het |
| Acot7 |
T |
C |
4: 152,302,250 (GRCm39) |
C121R |
probably damaging |
Het |
| Adam19 |
A |
T |
11: 46,003,751 (GRCm39) |
H193L |
probably benign |
Het |
| AI661453 |
T |
A |
17: 47,777,548 (GRCm39) |
|
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,983,953 (GRCm39) |
|
probably benign |
Het |
| Brd4 |
T |
C |
17: 32,431,803 (GRCm39) |
|
probably benign |
Het |
| Cdh18 |
A |
G |
15: 23,474,269 (GRCm39) |
Q713R |
probably benign |
Het |
| Cfap52 |
A |
T |
11: 67,844,406 (GRCm39) |
L103Q |
possibly damaging |
Het |
| Dpy19l4 |
T |
A |
4: 11,265,846 (GRCm39) |
T475S |
probably damaging |
Het |
| Dync2i1 |
G |
A |
12: 116,182,418 (GRCm39) |
P728L |
possibly damaging |
Het |
| Fat2 |
A |
T |
11: 55,187,035 (GRCm39) |
D1270E |
probably damaging |
Het |
| Hfm1 |
T |
C |
5: 107,052,659 (GRCm39) |
K275E |
probably damaging |
Het |
| Ift172 |
T |
C |
5: 31,438,058 (GRCm39) |
D426G |
probably benign |
Het |
| Mrc1 |
T |
C |
2: 14,243,059 (GRCm39) |
S62P |
probably damaging |
Het |
| Or13f5 |
G |
T |
4: 52,825,468 (GRCm39) |
E24* |
probably null |
Het |
| Or8b50 |
T |
A |
9: 38,518,589 (GRCm39) |
I276K |
probably damaging |
Het |
| Ptgs2 |
A |
T |
1: 149,977,740 (GRCm39) |
|
probably null |
Het |
| Rxfp1 |
T |
A |
3: 79,559,523 (GRCm39) |
I433F |
possibly damaging |
Het |
| Sbf1 |
C |
T |
15: 89,187,418 (GRCm39) |
|
probably benign |
Het |
| Serpinb13 |
T |
G |
1: 106,928,484 (GRCm39) |
F368C |
probably damaging |
Het |
| Slc9c1 |
T |
A |
16: 45,361,824 (GRCm39) |
S80R |
probably damaging |
Het |
| Spats2l |
G |
T |
1: 57,918,715 (GRCm39) |
V30L |
probably damaging |
Het |
| Stat1 |
A |
G |
1: 52,176,080 (GRCm39) |
E195G |
probably damaging |
Het |
| Tbx5 |
T |
A |
5: 119,983,023 (GRCm39) |
|
probably benign |
Het |
| Tmem165 |
A |
G |
5: 76,352,010 (GRCm39) |
T164A |
probably damaging |
Het |
| Trim66 |
A |
T |
7: 109,085,252 (GRCm39) |
|
probably null |
Het |
| Trip10 |
T |
A |
17: 57,568,409 (GRCm39) |
V405E |
possibly damaging |
Het |
| Vmn2r92 |
T |
A |
17: 18,372,275 (GRCm39) |
C28* |
probably null |
Het |
| Zbtb8a |
C |
T |
4: 129,251,640 (GRCm39) |
C277Y |
probably damaging |
Het |
| Zfp638 |
T |
C |
6: 83,956,508 (GRCm39) |
F1705S |
probably damaging |
Het |
|
| Other mutations in Capn12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01717:Capn12
|
APN |
7 |
28,588,530 (GRCm39) |
missense |
probably benign |
|
|
IGL02381:Capn12
|
APN |
7 |
28,585,880 (GRCm39) |
splice site |
probably benign |
|
|
IGL02863:Capn12
|
APN |
7 |
28,582,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03237:Capn12
|
APN |
7 |
28,590,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4418001:Capn12
|
UTSW |
7 |
28,585,961 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0027:Capn12
|
UTSW |
7 |
28,581,385 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0047:Capn12
|
UTSW |
7 |
28,589,812 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0047:Capn12
|
UTSW |
7 |
28,589,812 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0070:Capn12
|
UTSW |
7 |
28,588,551 (GRCm39) |
unclassified |
probably benign |
|
|
R0070:Capn12
|
UTSW |
7 |
28,588,551 (GRCm39) |
unclassified |
probably benign |
|
|
R0533:Capn12
|
UTSW |
7 |
28,587,108 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0932:Capn12
|
UTSW |
7 |
28,587,123 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1524:Capn12
|
UTSW |
7 |
28,582,189 (GRCm39) |
splice site |
probably benign |
|
|
R4758:Capn12
|
UTSW |
7 |
28,592,148 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4793:Capn12
|
UTSW |
7 |
28,592,094 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4983:Capn12
|
UTSW |
7 |
28,589,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5560:Capn12
|
UTSW |
7 |
28,582,285 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5835:Capn12
|
UTSW |
7 |
28,581,383 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5886:Capn12
|
UTSW |
7 |
28,587,030 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6247:Capn12
|
UTSW |
7 |
28,588,077 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6441:Capn12
|
UTSW |
7 |
28,587,427 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7136:Capn12
|
UTSW |
7 |
28,582,532 (GRCm39) |
splice site |
probably null |
|
|
R7757:Capn12
|
UTSW |
7 |
28,582,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8329:Capn12
|
UTSW |
7 |
28,582,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8888:Capn12
|
UTSW |
7 |
28,585,949 (GRCm39) |
splice site |
probably benign |
|
|
R8924:Capn12
|
UTSW |
7 |
28,582,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9150:Capn12
|
UTSW |
7 |
28,590,378 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9209:Capn12
|
UTSW |
7 |
28,581,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Capn12
|
UTSW |
7 |
28,587,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation