Incidental Mutation 'IGL03274:Capn15'
ID 415360
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Capn15
Ensembl Gene ENSMUSG00000037326
Gene Name calpain 15
Synonyms Solh
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.285) question?
Stock # IGL03274
Quality Score
Status
Chromosome 17
Chromosomal Location 26177338-26204753 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 26180812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 753 (S753T)
Ref Sequence ENSEMBL: ENSMUSP00000148393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041641] [ENSMUST00000181174] [ENSMUST00000212099] [ENSMUST00000212149] [ENSMUST00000212789] [ENSMUST00000212520]
AlphaFold Q9JLG8
Predicted Effect possibly damaging
Transcript: ENSMUST00000041641
AA Change: S753T

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000039528
Gene: ENSMUSG00000037326
AA Change: S753T

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 silent
Transcript: ENSMUST00000181174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211917
Predicted Effect probably benign
Transcript: ENSMUST00000212099
Predicted Effect possibly damaging
Transcript: ENSMUST00000212149
AA Change: S753T

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably damaging
Transcript: ENSMUST00000212789
AA Change: S753T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000212520
AA Change: S819T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212702
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212735
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adissp A T 2: 130,995,512 (GRCm39) probably null Het
Anln C A 9: 22,293,565 (GRCm39) R26M probably damaging Het
Ccdc62 A G 5: 124,092,743 (GRCm39) N576S probably benign Het
Csmd3 T C 15: 47,508,900 (GRCm39) D2895G probably damaging Het
Dspp T A 5: 104,322,814 (GRCm39) V37E probably damaging Het
Efcab3 A T 11: 104,611,919 (GRCm39) D587V probably benign Het
Efcab6 T C 15: 83,752,450 (GRCm39) D1473G probably damaging Het
Ehhadh T C 16: 21,582,090 (GRCm39) probably benign Het
Fbln1 T C 15: 85,116,879 (GRCm39) probably null Het
Gbp9 A G 5: 105,230,652 (GRCm39) V424A possibly damaging Het
Gda T C 19: 21,394,371 (GRCm39) Y236C possibly damaging Het
Gm4884 A G 7: 40,693,969 (GRCm39) E646G probably damaging Het
Gm4952 C A 19: 12,600,960 (GRCm39) probably benign Het
Gm5422 G T 10: 31,126,348 (GRCm39) noncoding transcript Het
Grin2b C T 6: 135,757,253 (GRCm39) D403N possibly damaging Het
Hsf2bp G A 17: 32,226,744 (GRCm39) R204C probably damaging Het
Il16 T C 7: 83,310,442 (GRCm39) E488G probably damaging Het
Kat6b G T 14: 21,659,831 (GRCm39) D212Y possibly damaging Het
Kctd2 A C 11: 115,320,208 (GRCm39) I247L possibly damaging Het
Kel T A 6: 41,664,929 (GRCm39) probably null Het
Krt20 A T 11: 99,320,855 (GRCm39) probably benign Het
Litaf T C 16: 10,784,433 (GRCm39) T26A probably damaging Het
N4bp2l2 G T 5: 150,584,931 (GRCm39) Q350K probably damaging Het
Nav2 T G 7: 49,011,847 (GRCm39) I26S probably damaging Het
Nfya A G 17: 48,698,375 (GRCm39) Y162H probably damaging Het
Or2g25 C T 17: 37,970,646 (GRCm39) A193T probably benign Het
Pbx4 A T 8: 70,319,200 (GRCm39) S244C probably damaging Het
Pcdhb16 T C 18: 37,612,285 (GRCm39) V415A probably benign Het
Rbbp8 A G 18: 11,874,133 (GRCm39) probably benign Het
Sp100 T C 1: 85,635,025 (GRCm39) probably benign Het
Spag16 A G 1: 69,883,540 (GRCm39) probably benign Het
Star A G 8: 26,301,082 (GRCm39) D138G possibly damaging Het
Other mutations in Capn15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01145:Capn15 APN 17 26,182,024 (GRCm39) missense probably damaging 1.00
IGL01568:Capn15 APN 17 26,184,419 (GRCm39) missense probably damaging 0.99
IGL01724:Capn15 APN 17 26,181,037 (GRCm39) missense probably damaging 1.00
IGL01934:Capn15 APN 17 26,181,998 (GRCm39) missense probably damaging 1.00
IGL02700:Capn15 APN 17 26,181,982 (GRCm39) missense probably damaging 1.00
ANU74:Capn15 UTSW 17 26,184,460 (GRCm39) nonsense probably null
R1350:Capn15 UTSW 17 26,183,666 (GRCm39) missense probably benign 0.00
R1491:Capn15 UTSW 17 26,183,453 (GRCm39) missense probably damaging 1.00
R1632:Capn15 UTSW 17 26,179,639 (GRCm39) missense probably damaging 0.99
R1696:Capn15 UTSW 17 26,183,878 (GRCm39) missense probably benign 0.01
R1871:Capn15 UTSW 17 26,183,203 (GRCm39) missense probably damaging 1.00
R1914:Capn15 UTSW 17 26,183,837 (GRCm39) missense probably benign 0.03
R2295:Capn15 UTSW 17 26,183,555 (GRCm39) nonsense probably null
R4579:Capn15 UTSW 17 26,178,811 (GRCm39) missense probably damaging 0.99
R4658:Capn15 UTSW 17 26,179,742 (GRCm39) missense probably benign 0.11
R5790:Capn15 UTSW 17 26,183,521 (GRCm39) missense probably benign 0.08
R6455:Capn15 UTSW 17 26,184,410 (GRCm39) missense probably damaging 1.00
R6639:Capn15 UTSW 17 26,179,152 (GRCm39) missense probably benign 0.00
R6882:Capn15 UTSW 17 26,179,153 (GRCm39) splice site probably null
R7052:Capn15 UTSW 17 26,180,724 (GRCm39) missense probably damaging 1.00
R7157:Capn15 UTSW 17 26,184,228 (GRCm39) missense probably damaging 1.00
R7287:Capn15 UTSW 17 26,179,429 (GRCm39) missense probably damaging 1.00
R7553:Capn15 UTSW 17 26,179,738 (GRCm39) missense probably damaging 0.96
R7555:Capn15 UTSW 17 26,182,406 (GRCm39) missense probably damaging 1.00
R7706:Capn15 UTSW 17 26,183,125 (GRCm39) missense probably benign 0.00
R8998:Capn15 UTSW 17 26,182,055 (GRCm39) missense probably damaging 1.00
R9099:Capn15 UTSW 17 26,192,141 (GRCm39) missense probably benign 0.34
R9487:Capn15 UTSW 17 26,184,353 (GRCm39) missense possibly damaging 0.89
R9631:Capn15 UTSW 17 26,182,409 (GRCm39) missense probably damaging 1.00
Z1088:Capn15 UTSW 17 26,182,321 (GRCm39) missense probably damaging 1.00
Z1177:Capn15 UTSW 17 26,192,194 (GRCm39) missense probably benign 0.09
Posted On 2016-08-02