Incidental Mutation 'IGL03177:Capn10'
ID |
412041 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Capn10
|
Ensembl Gene |
ENSMUSG00000026270 |
Gene Name |
calpain 10 |
Synonyms |
Capn8 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
IGL03177
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
92862130-92875670 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 92862704 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 37
(F37L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112831
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027488]
[ENSMUST00000117814]
[ENSMUST00000152983]
|
AlphaFold |
Q9ESK3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027488
AA Change: F37L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000027488 Gene: ENSMUSG00000026270 AA Change: F37L
Domain | Start | End | E-Value | Type |
CysPc
|
2 |
329 |
1.75e-59 |
SMART |
calpain_III
|
338 |
488 |
2.05e-60 |
SMART |
calpain_III
|
507 |
645 |
1.3e-39 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117814
AA Change: F37L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000112831 Gene: ENSMUSG00000026270 AA Change: F37L
Domain | Start | End | E-Value | Type |
CysPc
|
2 |
263 |
1.29e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152983
AA Change: F37L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000122158 Gene: ENSMUSG00000026270 AA Change: F37L
Domain | Start | End | E-Value | Type |
CysPc
|
2 |
329 |
1.75e-59 |
SMART |
calpain_III
|
338 |
488 |
2.71e-60 |
SMART |
low complexity region
|
490 |
499 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191563
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calpains represent a ubiquitous, well-conserved family of calcium-dependent cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus (NIDDM), and is located within the NIDDM1 region. Multiple alternative transcript variants have been described for this gene. [provided by RefSeq, Sep 2010] PHENOTYPE: Mice homozygous for a knock-out allele exhibit resistance to ryanodine- and palmitate-induced pancreatic apoptosis. Mice homozygous for a different knock-out allele exhibit increased adiposity, body and organ weights, and leptin serum levels on background containing LG/J. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg2 |
T |
C |
X: 159,221,259 (GRCm39) |
I23T |
possibly damaging |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Anxa7 |
T |
C |
14: 20,506,654 (GRCm39) |
I451V |
probably benign |
Het |
Cyp4f13 |
A |
G |
17: 33,165,888 (GRCm39) |
I30T |
possibly damaging |
Het |
Ddx27 |
A |
G |
2: 166,869,840 (GRCm39) |
N392D |
possibly damaging |
Het |
Dhx30 |
T |
C |
9: 109,917,078 (GRCm39) |
H479R |
possibly damaging |
Het |
Dnah5 |
A |
G |
15: 28,295,545 (GRCm39) |
Y1426C |
probably damaging |
Het |
Dnajc2 |
A |
G |
5: 21,980,079 (GRCm39) |
|
probably benign |
Het |
Fbxw8 |
C |
A |
5: 118,267,045 (GRCm39) |
|
probably benign |
Het |
Grik5 |
G |
A |
7: 24,714,879 (GRCm39) |
T705I |
probably damaging |
Het |
H2ac4 |
T |
A |
13: 23,935,509 (GRCm39) |
|
probably benign |
Het |
H2-M3 |
G |
T |
17: 37,581,207 (GRCm39) |
V19F |
possibly damaging |
Het |
Hapln2 |
C |
A |
3: 87,930,078 (GRCm39) |
C266F |
probably damaging |
Het |
Hspbp1 |
A |
T |
7: 4,667,700 (GRCm39) |
|
probably null |
Het |
Jak3 |
T |
A |
8: 72,135,014 (GRCm39) |
V549D |
probably damaging |
Het |
Mark1 |
A |
G |
1: 184,677,104 (GRCm39) |
S49P |
probably damaging |
Het |
Mdfic |
T |
C |
6: 15,770,450 (GRCm39) |
V152A |
probably damaging |
Het |
Mgat4a |
C |
A |
1: 37,483,968 (GRCm39) |
V501L |
probably damaging |
Het |
Mlxip |
C |
A |
5: 123,584,044 (GRCm39) |
P536T |
possibly damaging |
Het |
Mrpl2 |
A |
T |
17: 46,959,963 (GRCm39) |
T213S |
probably damaging |
Het |
Nos1ap |
C |
A |
1: 170,218,299 (GRCm39) |
|
probably null |
Het |
Or4a74 |
C |
T |
2: 89,439,826 (GRCm39) |
V207I |
probably benign |
Het |
Or6c1b |
T |
C |
10: 129,272,684 (GRCm39) |
M1T |
probably null |
Het |
Or8b50 |
T |
A |
9: 38,517,867 (GRCm39) |
Y35* |
probably null |
Het |
P2rx2 |
T |
C |
5: 110,489,479 (GRCm39) |
I251V |
probably damaging |
Het |
Parva |
T |
A |
7: 112,172,140 (GRCm39) |
|
probably benign |
Het |
Phf10 |
G |
A |
17: 15,166,493 (GRCm39) |
T459I |
probably damaging |
Het |
Prg4 |
T |
A |
1: 150,331,354 (GRCm39) |
|
probably benign |
Het |
Pum3 |
A |
T |
19: 27,367,612 (GRCm39) |
I639N |
probably benign |
Het |
Rlf |
T |
A |
4: 121,005,276 (GRCm39) |
K1235* |
probably null |
Het |
Ryr3 |
T |
A |
2: 112,859,016 (GRCm39) |
I46F |
probably benign |
Het |
Sall3 |
A |
G |
18: 81,016,183 (GRCm39) |
S582P |
probably benign |
Het |
Scn3b |
A |
C |
9: 40,181,338 (GRCm39) |
Y17S |
probably benign |
Het |
Senp8 |
A |
G |
9: 59,644,611 (GRCm39) |
C169R |
probably damaging |
Het |
Sgsm1 |
C |
T |
5: 113,398,859 (GRCm39) |
A1025T |
probably damaging |
Het |
Six1 |
T |
C |
12: 73,090,514 (GRCm39) |
E217G |
possibly damaging |
Het |
Slc38a8 |
T |
C |
8: 120,212,251 (GRCm39) |
D364G |
probably damaging |
Het |
Stk10 |
A |
T |
11: 32,564,592 (GRCm39) |
E801V |
probably damaging |
Het |
Ston2 |
A |
T |
12: 91,614,431 (GRCm39) |
I659N |
probably damaging |
Het |
Stxbp4 |
T |
C |
11: 90,462,579 (GRCm39) |
Q331R |
probably benign |
Het |
Synpo2 |
A |
T |
3: 122,914,864 (GRCm39) |
V54E |
probably damaging |
Het |
Tax1bp1 |
A |
G |
6: 52,713,932 (GRCm39) |
D237G |
possibly damaging |
Het |
Tmigd1 |
T |
C |
11: 76,797,774 (GRCm39) |
Y39H |
probably benign |
Het |
Vmn1r15 |
A |
G |
6: 57,235,458 (GRCm39) |
T109A |
probably benign |
Het |
Vmn1r209 |
T |
C |
13: 22,990,024 (GRCm39) |
Y222C |
possibly damaging |
Het |
Zfp809 |
A |
G |
9: 22,146,347 (GRCm39) |
D12G |
probably damaging |
Het |
|
Other mutations in Capn10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00902:Capn10
|
APN |
1 |
92,870,281 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01071:Capn10
|
APN |
1 |
92,872,797 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01682:Capn10
|
APN |
1 |
92,868,106 (GRCm39) |
missense |
probably benign |
0.16 |
IGL01771:Capn10
|
APN |
1 |
92,868,087 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02952:Capn10
|
APN |
1 |
92,872,896 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03224:Capn10
|
APN |
1 |
92,867,046 (GRCm39) |
missense |
probably damaging |
1.00 |
P4717OSA:Capn10
|
UTSW |
1 |
92,867,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R1256:Capn10
|
UTSW |
1 |
92,874,668 (GRCm39) |
missense |
probably damaging |
1.00 |
R1405:Capn10
|
UTSW |
1 |
92,872,744 (GRCm39) |
missense |
probably benign |
0.34 |
R1405:Capn10
|
UTSW |
1 |
92,872,744 (GRCm39) |
missense |
probably benign |
0.34 |
R1653:Capn10
|
UTSW |
1 |
92,874,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R1737:Capn10
|
UTSW |
1 |
92,862,677 (GRCm39) |
missense |
probably benign |
0.10 |
R2127:Capn10
|
UTSW |
1 |
92,865,756 (GRCm39) |
nonsense |
probably null |
|
R2433:Capn10
|
UTSW |
1 |
92,870,247 (GRCm39) |
missense |
probably benign |
0.22 |
R2484:Capn10
|
UTSW |
1 |
92,872,565 (GRCm39) |
missense |
probably damaging |
0.97 |
R4004:Capn10
|
UTSW |
1 |
92,868,313 (GRCm39) |
missense |
probably damaging |
0.98 |
R4005:Capn10
|
UTSW |
1 |
92,868,313 (GRCm39) |
missense |
probably damaging |
0.98 |
R4560:Capn10
|
UTSW |
1 |
92,867,084 (GRCm39) |
missense |
probably damaging |
1.00 |
R4684:Capn10
|
UTSW |
1 |
92,871,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R4766:Capn10
|
UTSW |
1 |
92,871,141 (GRCm39) |
missense |
probably damaging |
0.98 |
R4996:Capn10
|
UTSW |
1 |
92,872,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R5665:Capn10
|
UTSW |
1 |
92,865,653 (GRCm39) |
splice site |
probably null |
|
R5733:Capn10
|
UTSW |
1 |
92,871,635 (GRCm39) |
missense |
probably benign |
0.03 |
R5937:Capn10
|
UTSW |
1 |
92,867,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R6985:Capn10
|
UTSW |
1 |
92,871,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R7140:Capn10
|
UTSW |
1 |
92,872,993 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7495:Capn10
|
UTSW |
1 |
92,871,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R8170:Capn10
|
UTSW |
1 |
92,862,686 (GRCm39) |
missense |
probably damaging |
0.98 |
R8393:Capn10
|
UTSW |
1 |
92,871,130 (GRCm39) |
missense |
probably benign |
0.09 |
R8943:Capn10
|
UTSW |
1 |
92,871,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R9303:Capn10
|
UTSW |
1 |
92,871,665 (GRCm39) |
critical splice donor site |
probably null |
|
R9305:Capn10
|
UTSW |
1 |
92,871,665 (GRCm39) |
critical splice donor site |
probably null |
|
R9655:Capn10
|
UTSW |
1 |
92,867,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R9776:Capn10
|
UTSW |
1 |
92,871,586 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Posted On |
2016-08-02 |