Incidental Mutation 'IGL01116:Capn11'
ID53078
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 #IGL01116
Quality Score
Status
Chromosome17
Chromosomal Location45630204-45659325 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to T at 45638880 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120717] [ENSMUST00000151350]
Predicted Effect probably benign
Transcript: ENSMUST00000120717
SMART Domains Protein: ENSMUSP00000113132
Gene: ENSMUSG00000058626

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
Predicted Effect probably benign
Transcript: ENSMUST00000151350
SMART Domains Protein: ENSMUSP00000119679
Gene: ENSMUSG00000058626

DomainStartEndE-ValueType
Pfam:Peptidase_C2 94 153 1.5e-14 PFAM
low complexity region 163 174 N/A INTRINSIC
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,886,176 M951L probably benign Het
Als2 T C 1: 59,186,004 probably benign Het
Arhgap26 T C 18: 39,111,803 V167A probably damaging Het
Bbs1 A G 19: 4,902,839 probably benign Het
Cenpl G T 1: 161,083,287 S268I possibly damaging Het
Coq8b T C 7: 27,239,857 V144A possibly damaging Het
Exo1 T A 1: 175,901,397 C10S possibly damaging Het
Fam193b A T 13: 55,543,453 S203T probably damaging Het
Ggact T C 14: 122,891,755 N16S probably damaging Het
Gm3940 A T 1: 52,090,723 probably benign Het
Gm5458 G T 14: 19,599,692 L155I probably damaging Het
Golm1 T C 13: 59,649,656 K125R probably damaging Het
Gpatch4 A G 3: 88,055,005 E175G probably damaging Het
Gria1 A G 11: 57,236,975 N337D probably damaging Het
Gripap1 G A X: 7,812,466 G464D probably benign Het
Grk1 A G 8: 13,405,404 D96G possibly damaging Het
Hsf1 T C 15: 76,498,203 V258A probably benign Het
Ighv7-4 A G 12: 114,223,033 S40P probably damaging Het
Igkv4-50 G A 6: 69,700,937 S61L probably benign Het
Igkv4-62 C T 6: 69,400,051 G38E probably damaging Het
Ints1 T C 5: 139,771,682 D358G probably damaging Het
Madd A G 2: 91,154,543 probably benign Het
Map3k6 A G 4: 133,247,128 S580G probably damaging Het
Myef2 A G 2: 125,098,482 M383T probably damaging Het
Myo3b T C 2: 70,289,386 L930P probably damaging Het
Ndufaf3 C T 9: 108,566,869 R20Q probably benign Het
Npr2 T C 4: 43,640,248 S328P probably damaging Het
Olfr398 A T 11: 73,984,318 C97S probably damaging Het
Olfr725 T A 14: 50,035,050 M118L probably benign Het
Pdpr T C 8: 111,112,710 I155T possibly damaging Het
Phf11b A T 14: 59,323,182 I216K probably benign Het
Phkg1 T C 5: 129,864,972 probably null Het
Pik3r6 A G 11: 68,531,450 Y225C probably benign Het
Plekhh2 A T 17: 84,606,928 D1253V possibly damaging Het
Plppr3 T C 10: 79,866,923 T155A probably damaging Het
Ppp6r2 T C 15: 89,281,989 F732S probably damaging Het
Ryr1 A G 7: 29,100,202 probably benign Het
Slc16a8 T G 15: 79,251,232 S459R probably damaging Het
Slc25a12 A T 2: 71,293,352 probably benign Het
Slc38a2 T C 15: 96,693,185 probably benign Het
Slit1 C A 19: 41,606,385 W1182L possibly damaging Het
Snx2 C T 18: 53,194,423 probably benign Het
Sos1 A T 17: 80,445,500 V335D probably damaging Het
St18 A G 1: 6,802,632 D197G probably damaging Het
Ston2 G T 12: 91,648,748 N295K possibly damaging Het
Stpg3 A G 2: 25,213,179 probably benign Het
Tmem63a A G 1: 180,972,089 I675V probably damaging Het
Vmn2r16 T A 5: 109,340,428 L389Q probably damaging Het
Vps13d C A 4: 144,972,750 probably benign Het
Wdfy4 A T 14: 32,959,977 D3012E probably damaging Het
Other mutations in Capn11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Capn11 APN 17 45643767 missense probably damaging 1.00
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
IGL02711:Capn11 APN 17 45632415 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
R7999:Capn11 UTSW 17 45639206 missense probably damaging 1.00
R8058:Capn11 UTSW 17 45643755 missense probably null 1.00
Posted On2013-06-21