Incidental Mutation 'IGL01724:Capn15'
ID105224
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? Probably non essential (E-score: 0.178) question?
Stock #IGL01724
Quality Score
Status
Chromosome17
Chromosomal Location25958364-25985796 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 25962063 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 705 (S705P)
Ref Sequence ENSEMBL: ENSMUSP00000148393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041641] [ENSMUST00000181174] [ENSMUST00000212099] [ENSMUST00000212149] [ENSMUST00000212520] [ENSMUST00000212789]
Predicted Effect probably damaging
Transcript: ENSMUST00000041641
AA Change: S705P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039528
Gene: ENSMUSG00000037326
AA Change: S705P

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
AA Change: D138G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211917
Predicted Effect probably benign
Transcript: ENSMUST00000212099
Predicted Effect probably damaging
Transcript: ENSMUST00000212149
AA Change: S705P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212520
AA Change: S771P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212702
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212735
Predicted Effect probably damaging
Transcript: ENSMUST00000212789
AA Change: S705P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik C T 7: 29,247,896 probably null Het
Abcc9 A G 6: 142,664,533 V635A probably benign Het
Adgre1 T A 17: 57,444,064 Y579* probably null Het
Adgrg3 T C 8: 95,039,425 F295L probably benign Het
Arhgap42 A T 9: 8,998,253 probably benign Het
Brd2 T A 17: 34,117,002 Q79L probably damaging Het
Brd2 C A 17: 34,117,001 Q79H probably damaging Het
Cebpz T A 17: 78,935,913 D104V probably benign Het
Chl1 T C 6: 103,649,573 I94T probably damaging Het
Csf2rb C T 15: 78,336,414 A52V probably damaging Het
Ddx27 T C 2: 167,028,389 L459P probably damaging Het
Dhtkd1 T C 2: 5,914,840 T577A probably benign Het
Dync2h1 G A 9: 7,081,077 T2873I probably benign Het
Emg1 A G 6: 124,712,021 F8S possibly damaging Het
Fam46a A G 9: 85,325,050 C232R probably damaging Het
Fermt3 A G 19: 7,001,775 I553T probably damaging Het
Gaa A G 11: 119,275,121 D419G possibly damaging Het
Hdac10 T C 15: 89,124,709 probably benign Het
Hsf1 T A 15: 76,496,837 V122E possibly damaging Het
Lig3 C A 11: 82,790,622 T480K possibly damaging Het
Magi1 T C 6: 93,792,400 probably null Het
Mcm2 G T 6: 88,886,062 H683N probably damaging Het
Ncapg2 G T 12: 116,426,711 A427S probably damaging Het
Nkd1 T C 8: 88,522,295 F23L probably damaging Het
Olfr1501 G A 19: 13,838,861 T104M probably damaging Het
Pcdhb5 T G 18: 37,321,022 S152A probably benign Het
Pdx1 A T 5: 147,274,407 E146V probably damaging Het
Qrsl1 T C 10: 43,874,608 T485A probably benign Het
Slc17a4 A G 13: 23,905,533 Y134H probably benign Het
Slc24a4 A T 12: 102,218,960 M110L possibly damaging Het
Tnni3k T A 3: 154,939,626 I541F possibly damaging Het
Uhrf2 T C 19: 30,075,252 V382A probably benign Het
Vac14 T A 8: 110,618,891 M1K probably null Het
Virma A G 4: 11,528,672 E1303G probably damaging Het
Xirp2 T C 2: 67,526,067 V3724A probably benign 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
IGL01934:Capn15 APN 17 25963024 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
Z1088:Capn15 UTSW 17 25963347 missense probably damaging 1.00
Posted On2014-01-21