Incidental Mutation 'IGL01934:Capn15'
ID180561
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Capn15
Ensembl Gene ENSMUSG00000037326
Gene Namecalpain 15
SynonymsSolh
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.252) question?
Stock #IGL01934
Quality Score
Status
Chromosome17
Chromosomal Location25958364-25985796 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 25963024 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 604 (T604A)
Ref Sequence ENSEMBL: ENSMUSP00000148393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041641] [ENSMUST00000181174] [ENSMUST00000212099] [ENSMUST00000212149] [ENSMUST00000212520] [ENSMUST00000212789]
Predicted Effect possibly damaging
Transcript: ENSMUST00000041641
AA Change: T604A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000039528
Gene: ENSMUSG00000037326
AA Change: T604A

DomainStartEndE-ValueType
ZnF_RBZ 5 29 8.92e-8 SMART
ZnF_RBZ 46 70 3.46e-5 SMART
low complexity region 117 150 N/A INTRINSIC
ZnF_RBZ 151 175 2.28e-5 SMART
low complexity region 184 196 N/A INTRINSIC
low complexity region 258 271 N/A INTRINSIC
low complexity region 280 301 N/A INTRINSIC
low complexity region 310 322 N/A INTRINSIC
ZnF_RBZ 352 376 1.21e-4 SMART
ZnF_RBZ 424 448 4.78e-8 SMART
CysPc 479 811 6.54e-132 SMART
low complexity region 868 879 N/A INTRINSIC
low complexity region 913 930 N/A INTRINSIC
low complexity region 972 981 N/A INTRINSIC
Blast:CysPc 982 1028 9e-21 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180868
Predicted Effect probably benign
Transcript: ENSMUST00000181174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211917
Predicted Effect probably benign
Transcript: ENSMUST00000212099
Predicted Effect possibly damaging
Transcript: ENSMUST00000212149
AA Change: T604A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000212520
AA Change: T670A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212702
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212735
Predicted Effect probably damaging
Transcript: ENSMUST00000212789
AA Change: T604A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing zinc-finger-like repeats and a calpain-like protease domain. The encoded protein may function as a transcription factor, RNA-binding protein, or in protein-protein interactions during visual system development. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,585,655 K362E probably damaging Het
4932438H23Rik T A 16: 91,055,865 T128S probably damaging Het
Aars T A 8: 111,048,018 I593N probably damaging Het
Abca6 A T 11: 110,188,655 N1224K probably benign Het
Abcc5 A T 16: 20,422,441 probably benign Het
Adam7 A G 14: 68,532,599 L35P probably damaging Het
Ahnak T A 19: 9,002,657 L435Q probably damaging Het
Ankef1 A G 2: 136,552,531 E620G possibly damaging Het
Ap3d1 A T 10: 80,709,258 L1082* probably null Het
Atp6v0a4 T A 6: 38,051,546 I712F possibly damaging Het
Bco1 T A 8: 117,096,045 F5L possibly damaging Het
Cacna2d4 A T 6: 119,308,768 S794C probably damaging Het
Camk2d T C 3: 126,834,655 probably null Het
Cd180 A T 13: 102,702,858 D83V probably damaging Het
Ces1a C A 8: 93,032,650 R286L probably damaging Het
Col6a6 A G 9: 105,698,659 probably null Het
Crnkl1 A G 2: 145,931,282 V148A probably benign Het
Epas1 A T 17: 86,823,729 K312N probably damaging Het
Fbxw2 T C 2: 34,822,606 S148G probably damaging Het
Fig4 T C 10: 41,228,112 T791A probably benign Het
Galnt9 A T 5: 110,602,636 I340F possibly damaging Het
Gfap G A 11: 102,894,460 A230V probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm454 T C 5: 138,207,162 noncoding transcript Het
Il24 A T 1: 130,883,877 L115Q probably damaging Het
Ipp C A 4: 116,510,655 N28K probably damaging Het
Kalrn A T 16: 34,198,512 probably null Het
Klf10 C T 15: 38,297,284 V171M probably benign Het
Man1b1 T C 2: 25,345,511 S350P probably benign Het
Mfsd4a T C 1: 132,046,311 Y343C probably damaging Het
Mrpl58 C A 11: 115,410,729 probably benign Het
Myo7b A G 18: 32,001,341 probably null Het
Nbas T C 12: 13,289,879 probably benign Het
Nisch A G 14: 31,176,739 probably benign Het
Olfr494 A G 7: 108,368,161 I224V probably damaging Het
Olfr619 T C 7: 103,603,975 F107S probably damaging Het
Olfr97 A T 17: 37,231,548 V274D probably damaging Het
Parva T A 7: 112,588,553 C352* probably null Het
Ptf1a T A 2: 19,446,620 C254S possibly damaging Het
R3hdm1 G T 1: 128,236,535 R1062L probably benign Het
Rnf44 A G 13: 54,681,950 V407A probably damaging Het
Shank3 T C 15: 89,549,846 L1598P probably damaging Het
Slit2 T C 5: 48,238,405 S717P possibly damaging Het
Svs1 A T 6: 48,988,761 I568F probably damaging Het
Tdpoz4 A G 3: 93,797,472 K359E probably damaging Het
Tmtc4 A T 14: 122,927,635 L604* probably null Het
Tnfrsf21 A T 17: 43,065,187 N488I probably benign Het
Tnfsf8 A G 4: 63,834,510 probably benign Het
Tnpo3 A T 6: 29,575,020 L382M probably benign Het
Tut1 T C 19: 8,953,991 C18R probably damaging Het
Ugt8a A G 3: 125,914,775 S229P probably benign Het
Usp22 T C 11: 61,155,288 E476G probably damaging Het
Vill G T 9: 119,066,809 A146S probably damaging Het
Vmn1r178 T C 7: 23,893,937 Y137H probably damaging Het
Wdfy1 A T 1: 79,740,116 W51R probably damaging Het
Zc3hav1 A T 6: 38,319,833 probably null Het
Zfp236 A T 18: 82,633,120 V889E probably damaging Het
Zscan20 T C 4: 128,592,484 D141G possibly damaging Het
Other mutations in Capn15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01145:Capn15 APN 17 25963050 missense probably damaging 1.00
IGL01568:Capn15 APN 17 25965445 missense probably damaging 0.99
IGL01724:Capn15 APN 17 25962063 missense probably damaging 1.00
IGL02700:Capn15 APN 17 25963008 missense probably damaging 1.00
IGL03274:Capn15 APN 17 25961838 missense probably damaging 1.00
ANU74:Capn15 UTSW 17 25965486 nonsense probably null
R1350:Capn15 UTSW 17 25964692 missense probably benign 0.00
R1491:Capn15 UTSW 17 25964479 missense probably damaging 1.00
R1632:Capn15 UTSW 17 25960665 missense probably damaging 0.99
R1696:Capn15 UTSW 17 25964904 missense probably benign 0.01
R1871:Capn15 UTSW 17 25964229 missense probably damaging 1.00
R1914:Capn15 UTSW 17 25964863 missense probably benign 0.03
R2295:Capn15 UTSW 17 25964581 nonsense probably null
R4579:Capn15 UTSW 17 25959837 missense probably damaging 0.99
R4658:Capn15 UTSW 17 25960768 missense probably benign 0.11
R5790:Capn15 UTSW 17 25964547 missense probably benign 0.08
R6455:Capn15 UTSW 17 25965436 missense probably damaging 1.00
R6639:Capn15 UTSW 17 25960178 missense probably benign 0.00
R6882:Capn15 UTSW 17 25960179 splice site probably null
R7052:Capn15 UTSW 17 25961750 missense probably damaging 1.00
R7157:Capn15 UTSW 17 25965254 missense probably damaging 1.00
R7287:Capn15 UTSW 17 25960455 missense probably damaging 1.00
R7553:Capn15 UTSW 17 25960764 missense probably damaging 0.96
R7555:Capn15 UTSW 17 25963432 missense probably damaging 1.00
R7706:Capn15 UTSW 17 25964151 missense probably benign 0.00
Z1088:Capn15 UTSW 17 25963347 missense probably damaging 1.00
Z1177:Capn15 UTSW 17 25973220 missense probably benign 0.09
Posted On2014-05-07