Incidental Mutation 'IGL01314:Capn1'
ID |
73806 |
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 # |
IGL01314
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
6038573-6065855 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 6040014 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127498
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025891]
[ENSMUST00000041827]
[ENSMUST00000164843]
|
AlphaFold |
O35350 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025891
|
SMART Domains |
Protein: ENSMUSP00000025891 Gene: ENSMUSG00000024942
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 benign
Transcript: ENSMUST00000041827
|
SMART Domains |
Protein: ENSMUSP00000049473 Gene: ENSMUSG00000037451
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
low complexity region
|
42 |
53 |
N/A |
INTRINSIC |
Pfam:Sugar_tr
|
100 |
521 |
2.5e-27 |
PFAM |
Pfam:MFS_1
|
132 |
475 |
1.6e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164843
|
SMART Domains |
Protein: ENSMUSP00000127498 Gene: ENSMUSG00000024942
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
C |
T |
15: 11,071,939 (GRCm39) |
A161V |
probably benign |
Het |
Bptf |
A |
T |
11: 106,945,679 (GRCm39) |
V2520E |
probably damaging |
Het |
C87436 |
T |
C |
6: 86,434,837 (GRCm39) |
F395S |
probably damaging |
Het |
Ceacam5 |
T |
A |
7: 17,481,181 (GRCm39) |
Y309* |
probably null |
Het |
Clasp2 |
A |
G |
9: 113,735,195 (GRCm39) |
D1011G |
possibly damaging |
Het |
Csmd3 |
A |
G |
15: 47,713,151 (GRCm39) |
Y1608H |
probably damaging |
Het |
Dcaf1 |
T |
C |
9: 106,711,390 (GRCm39) |
I77T |
probably benign |
Het |
Dcdc2a |
T |
C |
13: 25,286,587 (GRCm39) |
L170P |
probably damaging |
Het |
Ddx28 |
A |
G |
8: 106,737,212 (GRCm39) |
F282S |
probably damaging |
Het |
Egf |
A |
G |
3: 129,479,909 (GRCm39) |
I497T |
probably benign |
Het |
Emsy |
A |
G |
7: 98,242,662 (GRCm39) |
V1159A |
probably benign |
Het |
Hk3 |
C |
A |
13: 55,154,876 (GRCm39) |
|
probably benign |
Het |
Htt |
A |
G |
5: 35,036,200 (GRCm39) |
D2049G |
probably benign |
Het |
Inpp5d |
C |
A |
1: 87,611,472 (GRCm39) |
S45* |
probably null |
Het |
Irf8 |
A |
G |
8: 121,480,119 (GRCm39) |
Y119C |
probably damaging |
Het |
Klk1b4 |
T |
C |
7: 43,860,600 (GRCm39) |
|
probably null |
Het |
Macf1 |
A |
G |
4: 123,380,513 (GRCm39) |
S1273P |
probably damaging |
Het |
Man2c1 |
A |
T |
9: 57,049,103 (GRCm39) |
H867L |
probably benign |
Het |
Mgat4e |
T |
C |
1: 134,469,187 (GRCm39) |
T286A |
probably damaging |
Het |
Mug2 |
T |
C |
6: 122,058,238 (GRCm39) |
F1267L |
possibly damaging |
Het |
Necab1 |
T |
A |
4: 15,005,079 (GRCm39) |
E128D |
probably damaging |
Het |
Or10ak9 |
G |
A |
4: 118,726,328 (GRCm39) |
V117I |
probably benign |
Het |
Pds5a |
A |
G |
5: 65,772,637 (GRCm39) |
V1322A |
probably benign |
Het |
Poc1b |
C |
T |
10: 98,965,503 (GRCm39) |
T144I |
probably damaging |
Het |
Prcc |
T |
A |
3: 87,777,387 (GRCm39) |
N196Y |
probably damaging |
Het |
Psma5 |
G |
A |
3: 108,187,111 (GRCm39) |
V237M |
possibly damaging |
Het |
Rap1gds1 |
A |
G |
3: 138,756,322 (GRCm39) |
L11P |
probably damaging |
Het |
Rapgef3 |
A |
G |
15: 97,646,104 (GRCm39) |
F132S |
probably damaging |
Het |
Rgs13 |
T |
G |
1: 144,047,179 (GRCm39) |
D14A |
probably benign |
Het |
Rlig1 |
A |
C |
10: 100,409,473 (GRCm39) |
D313E |
probably damaging |
Het |
Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
Tcerg1 |
C |
A |
18: 42,706,374 (GRCm39) |
A1017D |
probably damaging |
Het |
Tent5c |
T |
C |
3: 100,380,490 (GRCm39) |
K89E |
probably benign |
Het |
Tmem79 |
T |
C |
3: 88,239,883 (GRCm39) |
I276V |
possibly damaging |
Het |
Tmem94 |
C |
A |
11: 115,680,835 (GRCm39) |
H113N |
probably damaging |
Het |
Vil1 |
G |
A |
1: 74,467,397 (GRCm39) |
D715N |
probably damaging |
Het |
Vmn2r96 |
A |
G |
17: 18,803,226 (GRCm39) |
T187A |
probably benign |
Het |
Zfhx4 |
T |
A |
3: 5,478,154 (GRCm39) |
S3590T |
probably damaging |
Het |
|
Other mutations in Capn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00582:Capn1
|
APN |
19 |
6,057,299 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-10-07 |