Incidental Mutation 'IGL02381:Capn12'
| ID |
291394 |
| 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 # |
IGL02381
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
28580890-28593010 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 28585880 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 benign
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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,904,413 (GRCm39) |
I126F |
probably damaging |
Het |
| Antxrl |
T |
G |
14: 33,778,568 (GRCm39) |
|
probably null |
Het |
| Arsa |
A |
T |
15: 89,359,740 (GRCm39) |
Y62* |
probably null |
Het |
| Atg2b |
C |
A |
12: 105,614,607 (GRCm39) |
C1108F |
probably damaging |
Het |
| Atp8a1 |
T |
C |
5: 67,863,338 (GRCm39) |
Q651R |
probably benign |
Het |
| Atxn7l2 |
A |
G |
3: 108,111,811 (GRCm39) |
|
probably benign |
Het |
| Cacna1f |
A |
G |
X: 7,482,307 (GRCm39) |
D597G |
probably damaging |
Het |
| Ctnna2 |
A |
T |
6: 76,931,766 (GRCm39) |
D624E |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,337,118 (GRCm39) |
E3274G |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,316,280 (GRCm39) |
N3131I |
probably damaging |
Het |
| Fam3a |
C |
T |
X: 73,430,690 (GRCm39) |
G112E |
probably damaging |
Het |
| Focad |
T |
G |
4: 88,192,327 (GRCm39) |
|
probably benign |
Het |
| Fyb2 |
G |
A |
4: 104,805,863 (GRCm39) |
|
probably benign |
Het |
| Htt |
C |
T |
5: 34,987,104 (GRCm39) |
P1108S |
probably benign |
Het |
| Ift80 |
A |
T |
3: 68,869,653 (GRCm39) |
|
probably null |
Het |
| Insc |
T |
C |
7: 114,449,177 (GRCm39) |
*533Q |
probably null |
Het |
| Itga2 |
A |
G |
13: 114,993,258 (GRCm39) |
C786R |
probably damaging |
Het |
| Lman2 |
A |
G |
13: 55,499,282 (GRCm39) |
W198R |
possibly damaging |
Het |
| Med23 |
A |
G |
10: 24,776,626 (GRCm39) |
T713A |
possibly damaging |
Het |
| Mtus1 |
A |
T |
8: 41,536,156 (GRCm39) |
M520K |
probably benign |
Het |
| Mvd |
C |
A |
8: 123,163,894 (GRCm39) |
G252V |
probably benign |
Het |
| Ncoa3 |
T |
A |
2: 165,894,737 (GRCm39) |
V340E |
probably damaging |
Het |
| Necab1 |
A |
G |
4: 15,148,812 (GRCm39) |
|
probably null |
Het |
| Noxred1 |
T |
C |
12: 87,271,776 (GRCm39) |
D131G |
probably damaging |
Het |
| P2ry4 |
C |
A |
X: 99,637,807 (GRCm39) |
K30N |
probably damaging |
Het |
| Pcdhac2 |
T |
A |
18: 37,277,320 (GRCm39) |
V100D |
possibly damaging |
Het |
| Piezo1 |
C |
A |
8: 123,225,283 (GRCm39) |
R571L |
probably benign |
Het |
| Pkd1l2 |
C |
T |
8: 117,762,539 (GRCm39) |
|
probably benign |
Het |
| Plekhm2 |
T |
C |
4: 141,370,034 (GRCm39) |
T32A |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,697,342 (GRCm39) |
V613A |
possibly damaging |
Het |
| Rp1 |
A |
G |
1: 4,422,613 (GRCm39) |
S156P |
probably benign |
Het |
| Sema3f |
A |
T |
9: 107,569,594 (GRCm39) |
D48E |
probably damaging |
Het |
| Shisal1 |
A |
G |
15: 84,290,654 (GRCm39) |
S218P |
probably damaging |
Het |
| Slc29a4 |
T |
C |
5: 142,705,854 (GRCm39) |
V446A |
probably benign |
Het |
| Sppl3 |
C |
T |
5: 115,212,969 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,599,982 (GRCm39) |
E19064G |
probably damaging |
Het |
| Vps35l |
A |
G |
7: 118,374,598 (GRCm39) |
Y342C |
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 |
|
|
IGL01758:Capn12
|
APN |
7 |
28,586,048 (GRCm39) |
splice site |
probably null |
|
|
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 |
2015-04-16 |
Incidental Mutation