Incidental Mutation 'IGL01833:Casp14'
ID 154854
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Casp14
Ensembl Gene ENSMUSG00000005355
Gene Name caspase 14
Synonyms MICE, mini-ICE
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # IGL01833
Quality Score
Status
Chromosome 10
Chromosomal Location 78547825-78554128 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78551237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 16 (Y16F)
Ref Sequence ENSEMBL: ENSMUSP00000151657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005488] [ENSMUST00000219237]
AlphaFold O89094
Predicted Effect probably damaging
Transcript: ENSMUST00000005488
AA Change: Y16F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000005488
Gene: ENSMUSG00000005355
AA Change: Y16F

DomainStartEndE-ValueType
CASc 15 257 1.42e-33 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000219237
AA Change: Y16F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; 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 member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This caspase has been shown to be processed and activated by caspase 8 and caspase 10 in vitro, and by anti-Fas agonist antibody or TNF-related apoptosis inducing ligand in vivo. The expression and processing of this caspase may be involved in keratinocyte terminal differentiation, which is important for the formation of the skin barrier. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit impaired skin barrier function, skin dehydration and increased damage in response to UVB irradiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 A G 17: 57,188,062 (GRCm39) N190S probably benign Het
Adamts18 T A 8: 114,469,728 (GRCm39) Y658F probably benign Het
Camsap3 T A 8: 3,658,508 (GRCm39) L1151Q probably damaging Het
Clip2 A T 5: 134,526,938 (GRCm39) probably benign Het
Clip4 G A 17: 72,134,785 (GRCm39) probably benign Het
Cyb5r4 G A 9: 86,941,505 (GRCm39) probably null Het
Ep400 A T 5: 110,827,874 (GRCm39) N2329K unknown Het
Fam163a T A 1: 155,955,742 (GRCm39) I17F probably damaging Het
Galnt1 T A 18: 24,400,617 (GRCm39) I241N probably damaging Het
Galnt14 T G 17: 73,811,899 (GRCm39) I441L probably benign Het
Gpr45 T C 1: 43,071,402 (GRCm39) L15P probably benign Het
Hivep1 A T 13: 42,308,464 (GRCm39) K235* probably null Het
Kcnip2 T C 19: 45,782,746 (GRCm39) probably null Het
Kpna3 T C 14: 61,607,894 (GRCm39) N437S possibly damaging Het
Lmtk2 A T 5: 144,112,753 (GRCm39) R1158* probably null Het
Lpo A G 11: 87,698,159 (GRCm39) V612A possibly damaging Het
Myh15 T C 16: 48,934,421 (GRCm39) C663R probably damaging Het
Nacad G A 11: 6,555,700 (GRCm39) R17C unknown Het
Or7a35 A T 10: 78,853,770 (GRCm39) M205L probably benign Het
Pcsk2 A G 2: 143,529,500 (GRCm39) Q99R possibly damaging Het
Pkd1l2 T C 8: 117,787,264 (GRCm39) N593S probably benign Het
Plce1 G A 19: 38,709,425 (GRCm39) S1093N probably damaging Het
Prxl2b G T 4: 154,981,059 (GRCm39) probably benign Het
Rhpn2 T A 7: 35,075,596 (GRCm39) Y258N probably benign Het
Serpinb9d T C 13: 33,384,688 (GRCm39) Y222H probably damaging Het
Shprh T C 10: 11,066,806 (GRCm39) L1401P probably damaging Het
Slc5a7 A G 17: 54,588,861 (GRCm39) L262P probably damaging Het
Stat2 T G 10: 128,117,045 (GRCm39) F293V probably benign Het
Stpg4 T A 17: 87,702,585 (GRCm39) probably null Het
Styk1 G T 6: 131,279,329 (GRCm39) probably benign Het
Sult2a2 T A 7: 13,468,721 (GRCm39) D62E probably damaging Het
Sytl2 G A 7: 90,045,745 (GRCm39) V632M probably damaging Het
Themis C T 10: 28,658,307 (GRCm39) Q445* probably null Het
Tmem225 A T 9: 40,059,725 (GRCm39) E35V probably damaging Het
Vmn1r48 T A 6: 90,013,265 (GRCm39) T187S probably damaging Het
Xpnpep1 A G 19: 52,988,824 (GRCm39) Y463H probably damaging Het
Other mutations in Casp14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03205:Casp14 APN 10 78,549,173 (GRCm39) makesense probably null
R2082:Casp14 UTSW 10 78,550,867 (GRCm39) missense probably benign 0.01
R4717:Casp14 UTSW 10 78,550,958 (GRCm39) missense probably benign 0.38
R4840:Casp14 UTSW 10 78,549,178 (GRCm39) nonsense probably null
R5174:Casp14 UTSW 10 78,551,225 (GRCm39) missense possibly damaging 0.58
R5591:Casp14 UTSW 10 78,550,179 (GRCm39) missense unknown
R6797:Casp14 UTSW 10 78,550,975 (GRCm39) missense possibly damaging 0.75
R7477:Casp14 UTSW 10 78,550,138 (GRCm39) missense probably benign 0.00
R7947:Casp14 UTSW 10 78,550,079 (GRCm39) splice site probably null
R8063:Casp14 UTSW 10 78,549,865 (GRCm39) missense probably damaging 1.00
R9585:Casp14 UTSW 10 78,549,194 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04