Incidental Mutation 'IGL01717:Capn12'
| ID |
104965 |
| 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 # |
IGL01717
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
28580890-28593010 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28588530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 540
(D540G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069055
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066880]
[ENSMUST00000068045]
[ENSMUST00000217157]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066880
AA Change: D540G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000069055
Gene: ENSMUSG00000054083
AA Change: D540G
| 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 |
probably benign
Transcript: ENSMUST00000068045
|
| SMART Domains |
Protein: ENSMUSP00000066068
Gene: ENSMUSG00000054808
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
30 |
N/A |
INTRINSIC |
|
CH
|
53 |
153 |
1.08e-24 |
SMART |
|
CH
|
166 |
265 |
3.49e-24 |
SMART |
|
SPEC
|
297 |
403 |
2.83e0 |
SMART |
|
SPEC
|
417 |
518 |
3.78e-23 |
SMART |
|
SPEC
|
532 |
639 |
8.64e-9 |
SMART |
|
SPEC
|
653 |
752 |
3.56e0 |
SMART |
|
EFh
|
770 |
798 |
1.92e-3 |
SMART |
|
EFh
|
811 |
839 |
1.56e-3 |
SMART |
|
efhand_Ca_insen
|
842 |
908 |
1.27e-36 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144909
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208228
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208238
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208299
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216863
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217157
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aif1 |
A |
T |
17: 35,390,531 (GRCm39) |
M73K |
probably damaging |
Het |
| Alk |
T |
C |
17: 72,910,377 (GRCm39) |
I110V |
probably benign |
Het |
| Aoah |
T |
C |
13: 21,184,147 (GRCm39) |
S404P |
probably damaging |
Het |
| Bhlhe41 |
A |
G |
6: 145,808,763 (GRCm39) |
S350P |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,088,885 (GRCm39) |
S4112G |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,807,179 (GRCm39) |
Y2012H |
possibly damaging |
Het |
| Col1a1 |
A |
G |
11: 94,841,603 (GRCm39) |
T1284A |
unknown |
Het |
| Col24a1 |
T |
C |
3: 145,230,018 (GRCm39) |
|
probably benign |
Het |
| Col4a5 |
T |
A |
X: 140,422,234 (GRCm39) |
V1070D |
unknown |
Het |
| Col6a5 |
T |
C |
9: 105,817,472 (GRCm39) |
T280A |
unknown |
Het |
| Dicer1 |
A |
T |
12: 104,669,046 (GRCm39) |
L1212* |
probably null |
Het |
| Gigyf1 |
T |
A |
5: 137,523,953 (GRCm39) |
V1041E |
probably damaging |
Het |
| Gm4978 |
C |
T |
9: 69,358,155 (GRCm39) |
|
probably benign |
Het |
| Gnai1 |
A |
G |
5: 18,496,459 (GRCm39) |
|
probably null |
Het |
| Golgb1 |
C |
T |
16: 36,735,864 (GRCm39) |
R1704* |
probably null |
Het |
| Incenp |
A |
G |
19: 9,870,629 (GRCm39) |
|
probably benign |
Het |
| Lrrc39 |
A |
T |
3: 116,373,146 (GRCm39) |
|
probably benign |
Het |
| Man2a2 |
T |
C |
7: 80,017,113 (GRCm39) |
K319E |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,079,879 (GRCm39) |
D83G |
probably damaging |
Het |
| Osbpl6 |
T |
C |
2: 76,418,938 (GRCm39) |
I732T |
probably damaging |
Het |
| Pacs1 |
T |
A |
19: 5,218,000 (GRCm39) |
K130N |
probably damaging |
Het |
| Pappa2 |
A |
G |
1: 158,684,702 (GRCm39) |
|
probably null |
Het |
| Pole2 |
T |
C |
12: 69,260,623 (GRCm39) |
M186V |
probably damaging |
Het |
| Rwdd4a |
T |
C |
8: 47,997,140 (GRCm39) |
|
probably benign |
Het |
| Sel1l3 |
A |
G |
5: 53,357,510 (GRCm39) |
Y161H |
probably damaging |
Het |
| Sf3a2 |
C |
T |
10: 80,640,526 (GRCm39) |
Q446* |
probably null |
Het |
| Slc26a3 |
T |
C |
12: 31,513,476 (GRCm39) |
I466T |
probably benign |
Het |
| Slc29a4 |
A |
T |
5: 142,704,501 (GRCm39) |
I348F |
probably damaging |
Het |
| Tbl1xr1 |
A |
G |
3: 22,247,335 (GRCm39) |
|
probably benign |
Het |
| Tlr5 |
A |
T |
1: 182,802,963 (GRCm39) |
I756F |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,560,748 (GRCm39) |
L29218I |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,560,746 (GRCm39) |
L29218F |
probably damaging |
Het |
|
| Other mutations in Capn12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01758:Capn12
|
APN |
7 |
28,586,048 (GRCm39) |
splice site |
probably null |
|
|
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 |
2014-01-21 |
Incidental Mutation