Incidental Mutation 'IGL02696:Capn11'
ID 303936
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Capn11
Ensembl Gene ENSMUSG00000058626
Gene Name calpain 11
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02696
Quality Score
Status
Chromosome 17
Chromosomal Location 45941130-45970251 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45943635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 596 (N596S)
Ref Sequence ENSEMBL: ENSMUSP00000113132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120717]
AlphaFold Q6J756
Predicted Effect probably damaging
Transcript: ENSMUST00000120717
AA Change: N596S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113132
Gene: ENSMUSG00000058626
AA Change: N596S

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A G 14: 29,704,628 (GRCm39) T43A probably benign Het
Adgrd1 T C 5: 129,217,918 (GRCm39) probably benign Het
Asxl1 T A 2: 153,242,115 (GRCm39) Y888* probably null Het
Atp8b5 T C 4: 43,369,634 (GRCm39) V924A possibly damaging Het
AU040320 T C 4: 126,736,380 (GRCm39) L821P probably damaging Het
Cnot1 C A 8: 96,471,645 (GRCm39) V1219F probably benign Het
Cope T C 8: 70,763,143 (GRCm39) probably null Het
Crim1 A G 17: 78,587,402 (GRCm39) E169G probably damaging Het
Csmd3 A T 15: 47,533,065 (GRCm39) F2395I probably benign Het
Ctso A C 3: 81,858,691 (GRCm39) D220A possibly damaging Het
Cttnbp2 G A 6: 18,434,128 (GRCm39) P577S probably benign Het
D930048N14Rik T A 11: 51,544,821 (GRCm39) probably benign Het
Dck T A 5: 88,920,666 (GRCm39) S129T probably damaging Het
Dlc1 A G 8: 37,041,326 (GRCm39) V1301A possibly damaging Het
Dusp16 G A 6: 134,695,398 (GRCm39) R478C probably damaging Het
Ermap C T 4: 119,044,904 (GRCm39) R49K possibly damaging Het
Flnc A G 6: 29,446,697 (GRCm39) K969R probably damaging Het
Gjb2 A T 14: 57,337,769 (GRCm39) F146L probably damaging Het
Hdc A T 2: 126,436,220 (GRCm39) D550E probably damaging Het
Hs6st3 A T 14: 120,106,731 (GRCm39) I380F probably damaging Het
Htr1d T C 4: 136,170,722 (GRCm39) V317A probably benign Het
Kalrn A T 16: 34,040,484 (GRCm39) M963K probably damaging Het
Kl T A 5: 150,904,450 (GRCm39) S401T probably benign Het
Lair1 A G 7: 4,013,848 (GRCm39) probably benign Het
Lrp5 C T 19: 3,652,253 (GRCm39) V1206I probably benign Het
Matn4 A G 2: 164,238,758 (GRCm39) F343S probably benign Het
Mrgpra4 G T 7: 47,631,251 (GRCm39) R117S possibly damaging Het
Myh14 T C 7: 44,314,530 (GRCm39) Y131C probably damaging Het
Nap1l4 A T 7: 143,077,898 (GRCm39) N345K possibly damaging Het
Oas1c T C 5: 120,943,528 (GRCm39) R204G probably benign Het
Or52e4 A G 7: 104,705,569 (GRCm39) T39A probably benign Het
Or8k25 T A 2: 86,243,959 (GRCm39) T146S probably benign Het
Pakap T A 4: 57,854,663 (GRCm39) D58E probably damaging Het
Pin1 G A 9: 20,574,531 (GRCm39) G150E probably benign Het
R3hdm2 T C 10: 127,300,888 (GRCm39) probably null Het
Rai1 C A 11: 60,084,782 (GRCm39) H1843Q probably benign Het
Siae G T 9: 37,542,680 (GRCm39) A194S probably damaging Het
Slc6a12 G T 6: 121,340,211 (GRCm39) V485L probably benign Het
Stil T G 4: 114,898,692 (GRCm39) S1107R probably damaging Het
Syt16 T C 12: 74,176,185 (GRCm39) V18A possibly damaging Het
Trpm8 A G 1: 88,275,773 (GRCm39) D457G probably damaging Het
Tshr A T 12: 91,460,103 (GRCm39) T66S possibly damaging Het
Ttn T A 2: 76,537,639 (GRCm39) Q34763L probably benign Het
Ubr2 T A 17: 47,274,691 (GRCm39) M830L probably benign Het
Ulk1 A G 5: 110,940,918 (GRCm39) F337S probably damaging Het
Other mutations in Capn11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Capn11 APN 17 45,954,693 (GRCm39) missense probably damaging 1.00
IGL01116:Capn11 APN 17 45,949,806 (GRCm39) unclassified probably benign
IGL01121:Capn11 APN 17 45,950,058 (GRCm39) missense probably benign 0.04
IGL01366:Capn11 APN 17 45,964,126 (GRCm39) missense probably damaging 1.00
IGL01533:Capn11 APN 17 45,943,830 (GRCm39) missense probably benign
IGL01595:Capn11 APN 17 45,950,360 (GRCm39) missense probably benign 0.02
IGL02197:Capn11 APN 17 45,950,782 (GRCm39) missense probably benign 0.14
IGL02683:Capn11 APN 17 45,964,517 (GRCm39) missense probably damaging 1.00
IGL02711:Capn11 APN 17 45,943,341 (GRCm39) missense probably damaging 1.00
IGL02900:Capn11 APN 17 45,941,540 (GRCm39) splice site probably null
IGL03033:Capn11 APN 17 45,953,473 (GRCm39) missense probably damaging 1.00
R0883:Capn11 UTSW 17 45,949,807 (GRCm39) unclassified probably benign
R1494:Capn11 UTSW 17 45,954,735 (GRCm39) missense probably damaging 1.00
R1735:Capn11 UTSW 17 45,943,327 (GRCm39) nonsense probably null
R1785:Capn11 UTSW 17 45,949,623 (GRCm39) missense probably benign 0.02
R1952:Capn11 UTSW 17 45,953,885 (GRCm39) missense probably damaging 1.00
R2149:Capn11 UTSW 17 45,944,033 (GRCm39) critical splice acceptor site probably null
R2397:Capn11 UTSW 17 45,964,147 (GRCm39) missense probably damaging 1.00
R2495:Capn11 UTSW 17 45,949,689 (GRCm39) missense probably damaging 0.97
R2516:Capn11 UTSW 17 45,944,725 (GRCm39) missense probably damaging 0.98
R3934:Capn11 UTSW 17 45,945,213 (GRCm39) splice site probably benign
R4016:Capn11 UTSW 17 45,964,682 (GRCm39) missense probably damaging 1.00
R4226:Capn11 UTSW 17 45,953,392 (GRCm39) critical splice donor site probably null
R4227:Capn11 UTSW 17 45,953,392 (GRCm39) critical splice donor site probably null
R4774:Capn11 UTSW 17 45,944,006 (GRCm39) missense probably benign 0.00
R4892:Capn11 UTSW 17 45,944,023 (GRCm39) frame shift probably null
R5244:Capn11 UTSW 17 45,944,818 (GRCm39) missense probably damaging 1.00
R5667:Capn11 UTSW 17 45,950,600 (GRCm39) missense possibly damaging 0.87
R5671:Capn11 UTSW 17 45,950,600 (GRCm39) missense possibly damaging 0.87
R5991:Capn11 UTSW 17 45,970,278 (GRCm39) splice site probably null
R6180:Capn11 UTSW 17 45,941,692 (GRCm39) missense probably damaging 1.00
R6193:Capn11 UTSW 17 45,964,430 (GRCm39) critical splice donor site probably null
R6774:Capn11 UTSW 17 45,968,256 (GRCm39) intron probably benign
R7047:Capn11 UTSW 17 45,949,622 (GRCm39) nonsense probably null
R7302:Capn11 UTSW 17 45,954,738 (GRCm39) missense probably damaging 1.00
R7516:Capn11 UTSW 17 45,949,766 (GRCm39) missense possibly damaging 0.95
R7563:Capn11 UTSW 17 45,944,891 (GRCm39) missense probably damaging 0.99
R7718:Capn11 UTSW 17 45,954,707 (GRCm39) missense probably damaging 1.00
R7999:Capn11 UTSW 17 45,950,132 (GRCm39) missense probably damaging 1.00
R8058:Capn11 UTSW 17 45,954,681 (GRCm39) missense probably null 1.00
R8194:Capn11 UTSW 17 45,944,325 (GRCm39) missense probably damaging 0.96
R8737:Capn11 UTSW 17 45,943,801 (GRCm39) missense probably benign 0.01
R8989:Capn11 UTSW 17 45,954,783 (GRCm39) missense probably damaging 1.00
R9037:Capn11 UTSW 17 45,950,357 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16