Incidental Mutation 'IGL02711:Capn11'
ID304571
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Capn11
Ensembl Gene ENSMUSG00000058626
Gene Namecalpain 11
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02711
Quality Score
Status
Chromosome17
Chromosomal Location45630204-45659325 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 45632415 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 611 (F611S)
Ref Sequence ENSEMBL: ENSMUSP00000113132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120717]
Predicted Effect probably damaging
Transcript: ENSMUST00000120717
AA Change: F611S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113132
Gene: ENSMUSG00000058626
AA Change: F611S

DomainStartEndE-ValueType
CysPc 37 362 2.75e-157 SMART
calpain_III 366 523 2.57e-84 SMART
EFh 590 618 3.91e-4 SMART
EFh 620 648 6.88e-1 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calpains constitute a family of intracellular calcium-dependent cysteine proteases. There are eight members in this superfamily. They consist of a variable 80 kDa subunit and an invariant 30 kDa subunit. This calpain protein appears to have protease activity and calcium-binding ability. A similar mouse protein may play a functional role in spermatogenesis and in the regulation of calcium-dependent signal transduction events during meiosis. [provided by RefSeq, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A T 5: 8,723,245 probably null Het
Adamts10 T A 17: 33,538,272 M400K probably damaging Het
Adamts17 G A 7: 67,052,040 probably benign Het
Adh5 A G 3: 138,454,673 K323E probably damaging Het
Angptl2 T C 2: 33,228,243 W10R probably benign Het
Arhgap15 T C 2: 44,116,662 F264L possibly damaging Het
Atp6v1g3 T A 1: 138,283,681 L33Q probably damaging Het
Baz2b A T 2: 59,917,505 probably benign Het
BC027072 T C 17: 71,749,382 D1100G probably benign Het
Cep152 T A 2: 125,563,942 T1557S possibly damaging Het
Cep76 A T 18: 67,638,336 S75R probably benign Het
Cps1 A G 1: 67,212,517 probably benign Het
Dbf4 G T 5: 8,408,235 A199E probably benign Het
Gldc C T 19: 30,145,146 probably null Het
Hspa14 G A 2: 3,502,520 A117V probably benign Het
Igkv4-80 G A 6: 69,016,817 P30L probably damaging Het
Itga2b A T 11: 102,465,725 W292R possibly damaging Het
Kansl1 A T 11: 104,335,575 S982T probably damaging Het
Klhdc7b A T 15: 89,388,043 K1043* probably null Het
Kmt2a A T 9: 44,824,523 probably benign Het
Krt86 T C 15: 101,473,662 Y38H probably damaging Het
Lingo4 T C 3: 94,403,393 I546T probably benign Het
Lrrk1 A G 7: 66,330,767 S222P probably damaging Het
Lrrk2 T C 15: 91,685,822 V178A possibly damaging Het
Maml2 T C 9: 13,620,063 V191A probably benign Het
Msh3 T C 13: 92,351,311 T133A probably damaging Het
Nck1 T C 9: 100,508,620 D12G probably damaging Het
Nox4 T C 7: 87,396,868 Y572H probably damaging Het
Nqo1 A T 8: 107,392,931 L30Q probably damaging Het
Olfr994 A T 2: 85,430,739 V30E probably damaging Het
Oxr1 A G 15: 41,653,671 probably benign Het
Pcdhb10 A C 18: 37,412,726 D285A possibly damaging Het
Pclo A G 5: 14,522,308 N569S unknown Het
Ppfibp1 T A 6: 147,026,238 Y794* probably null Het
Ripor3 T G 2: 168,006,280 probably benign Het
Rpe65 C A 3: 159,622,877 H441N possibly damaging Het
St14 A G 9: 31,089,900 V845A probably benign Het
Tmem116 T A 5: 121,487,741 probably benign Het
Tnfrsf11b A T 15: 54,256,136 D147E probably benign Het
Ttn C A 2: 76,730,122 G27566* probably null Het
Zscan18 G T 7: 12,775,117 probably benign Het
Other mutations in Capn11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Capn11 APN 17 45643767 missense probably damaging 1.00
IGL01116:Capn11 APN 17 45638880 unclassified probably benign
IGL01121:Capn11 APN 17 45639132 missense probably benign 0.04
IGL01366:Capn11 APN 17 45653200 missense probably damaging 1.00
IGL01533:Capn11 APN 17 45632904 missense probably benign
IGL01595:Capn11 APN 17 45639434 missense probably benign 0.02
IGL02197:Capn11 APN 17 45639856 missense probably benign 0.14
IGL02683:Capn11 APN 17 45653591 missense probably damaging 1.00
IGL02696:Capn11 APN 17 45632709 missense probably damaging 1.00
IGL02900:Capn11 APN 17 45630614 splice site probably null
IGL03033:Capn11 APN 17 45642547 missense probably damaging 1.00
R0883:Capn11 UTSW 17 45638881 unclassified probably benign
R1494:Capn11 UTSW 17 45643809 missense probably damaging 1.00
R1735:Capn11 UTSW 17 45632401 nonsense probably null
R1785:Capn11 UTSW 17 45638697 missense probably benign 0.02
R1952:Capn11 UTSW 17 45642959 missense probably damaging 1.00
R2149:Capn11 UTSW 17 45633107 critical splice acceptor site probably null
R2397:Capn11 UTSW 17 45653221 missense probably damaging 1.00
R2495:Capn11 UTSW 17 45638763 missense probably damaging 0.97
R2516:Capn11 UTSW 17 45633799 missense probably damaging 0.98
R3934:Capn11 UTSW 17 45634287 splice site probably benign
R4016:Capn11 UTSW 17 45653756 missense probably damaging 1.00
R4226:Capn11 UTSW 17 45642466 critical splice donor site probably null
R4227:Capn11 UTSW 17 45642466 critical splice donor site probably null
R4774:Capn11 UTSW 17 45633080 missense probably benign 0.00
R4892:Capn11 UTSW 17 45633097 frame shift probably null
R5244:Capn11 UTSW 17 45633892 missense probably damaging 1.00
R5667:Capn11 UTSW 17 45639674 missense possibly damaging 0.87
R5671:Capn11 UTSW 17 45639674 missense possibly damaging 0.87
R5991:Capn11 UTSW 17 45659352 unclassified probably null
R6180:Capn11 UTSW 17 45630766 missense probably damaging 1.00
R6193:Capn11 UTSW 17 45653504 critical splice donor site probably null
R6774:Capn11 UTSW 17 45657330 intron probably benign
R7047:Capn11 UTSW 17 45638696 nonsense probably null
R7302:Capn11 UTSW 17 45643812 missense probably damaging 1.00
R7516:Capn11 UTSW 17 45638840 missense possibly damaging 0.95
R7563:Capn11 UTSW 17 45633965 missense probably damaging 0.99
R7718:Capn11 UTSW 17 45643781 missense probably damaging 1.00
Posted On2015-04-16