Incidental Mutation 'IGL00582:Capn1'
| ID |
12503 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Capn1
|
| Ensembl Gene |
ENSMUSG00000024942 |
| Gene Name |
calpain 1 |
| Synonyms |
Capa1, Capa-1, mu-calpin |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00582
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
6038573-6065855 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 6057299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 383
(G383V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025891]
[ENSMUST00000164843]
|
| AlphaFold |
O35350 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025891
AA Change: G383V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025891
Gene: ENSMUSG00000024942
AA Change: G383V
| Domain | Start | End | E-Value | Type |
|---|
|
CysPc
|
37 |
362 |
6.79e-180 |
SMART |
|
calpain_III
|
365 |
521 |
7.38e-94 |
SMART |
|
EFh
|
588 |
616 |
1.13e1 |
SMART |
|
EFh
|
618 |
646 |
2.95e0 |
SMART |
|
EFh
|
683 |
711 |
7.65e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164843
AA Change: G383V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127498
Gene: ENSMUSG00000024942
AA Change: G383V
| Domain | Start | End | E-Value | Type |
|---|
|
CysPc
|
37 |
362 |
6.79e-180 |
SMART |
|
calpain_III
|
365 |
521 |
7.38e-94 |
SMART |
|
EFh
|
588 |
616 |
1.13e1 |
SMART |
|
EFh
|
618 |
646 |
2.95e0 |
SMART |
|
EFh
|
683 |
711 |
7.65e1 |
SMART |
|
| 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 the large subunit of the ubiquitous enzyme, calpain 1. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Animals homozygous for a mutation of this gene exhibit decreased platelet aggregation and defective clot retraction although bleeding times remain similar to wild-type. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam10 |
C |
A |
9: 70,674,177 (GRCm39) |
T513K |
possibly damaging |
Het |
| Csf1 |
A |
G |
3: 107,664,043 (GRCm39) |
S42P |
probably benign |
Het |
| Hipk2 |
A |
G |
6: 38,796,257 (GRCm39) |
|
probably benign |
Het |
| Knl1 |
A |
T |
2: 118,932,980 (GRCm39) |
E2046D |
probably benign |
Het |
| Lamc3 |
T |
C |
2: 31,790,593 (GRCm39) |
V271A |
probably damaging |
Het |
| Pik3c2a |
G |
T |
7: 115,975,518 (GRCm39) |
T683K |
possibly damaging |
Het |
| Ranbp17 |
G |
A |
11: 33,454,683 (GRCm39) |
T55I |
probably damaging |
Het |
| Sema3d |
C |
T |
5: 12,635,162 (GRCm39) |
R743C |
probably damaging |
Het |
| Setbp1 |
G |
A |
18: 78,798,894 (GRCm39) |
Q1429* |
probably null |
Het |
| Sirt7 |
A |
G |
11: 120,509,735 (GRCm39) |
I383T |
probably benign |
Het |
| Sis |
T |
C |
3: 72,853,969 (GRCm39) |
I503V |
probably benign |
Het |
| Spmap2l |
A |
T |
5: 77,208,678 (GRCm39) |
Y402F |
probably damaging |
Het |
| Usp17le |
T |
C |
7: 104,417,994 (GRCm39) |
T383A |
probably benign |
Het |
| Zfp248 |
A |
T |
6: 118,406,693 (GRCm39) |
Y299N |
probably damaging |
Het |
| Zfp420 |
T |
C |
7: 29,574,518 (GRCm39) |
I246T |
probably damaging |
Het |
|
| Other mutations in Capn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01314:Capn1
|
APN |
19 |
6,040,014 (GRCm39) |
splice site |
probably benign |
|
|
R0044:Capn1
|
UTSW |
19 |
6,064,373 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1496:Capn1
|
UTSW |
19 |
6,057,528 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1646:Capn1
|
UTSW |
19 |
6,047,760 (GRCm39) |
missense |
probably benign |
|
|
R1852:Capn1
|
UTSW |
19 |
6,059,133 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1924:Capn1
|
UTSW |
19 |
6,040,086 (GRCm39) |
splice site |
probably null |
|
|
R2006:Capn1
|
UTSW |
19 |
6,041,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2109:Capn1
|
UTSW |
19 |
6,064,388 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3704:Capn1
|
UTSW |
19 |
6,057,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3705:Capn1
|
UTSW |
19 |
6,057,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3830:Capn1
|
UTSW |
19 |
6,044,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4664:Capn1
|
UTSW |
19 |
6,061,045 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4665:Capn1
|
UTSW |
19 |
6,061,045 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4666:Capn1
|
UTSW |
19 |
6,061,045 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4694:Capn1
|
UTSW |
19 |
6,044,761 (GRCm39) |
nonsense |
probably null |
|
|
R4745:Capn1
|
UTSW |
19 |
6,043,946 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5103:Capn1
|
UTSW |
19 |
6,059,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5149:Capn1
|
UTSW |
19 |
6,040,364 (GRCm39) |
splice site |
probably null |
|
|
R5569:Capn1
|
UTSW |
19 |
6,063,690 (GRCm39) |
missense |
probably benign |
|
|
R5636:Capn1
|
UTSW |
19 |
6,064,472 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5906:Capn1
|
UTSW |
19 |
6,061,451 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5907:Capn1
|
UTSW |
19 |
6,047,827 (GRCm39) |
missense |
probably benign |
|
|
R7038:Capn1
|
UTSW |
19 |
6,064,349 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7091:Capn1
|
UTSW |
19 |
6,041,586 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7307:Capn1
|
UTSW |
19 |
6,043,938 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7592:Capn1
|
UTSW |
19 |
6,064,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7779:Capn1
|
UTSW |
19 |
6,044,116 (GRCm39) |
missense |
probably benign |
|
|
R8514:Capn1
|
UTSW |
19 |
6,047,854 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8708:Capn1
|
UTSW |
19 |
6,061,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9452:Capn1
|
UTSW |
19 |
6,057,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Capn1
|
UTSW |
19 |
6,064,308 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2012-12-06 |
Incidental Mutation