Incidental Mutation 'IGL03205:Casp14'
ID 413118
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: 0.084) question?
Stock # IGL03205
Quality Score
Status
Chromosome 10
Chromosomal Location 78547825-78554128 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 78549173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Glutamine at position 258 (*258Q)
Ref Sequence ENSEMBL: ENSMUSP00000151657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005488] [ENSMUST00000219237]
AlphaFold O89094
Predicted Effect probably null
Transcript: ENSMUST00000005488
AA Change: *258Q
SMART Domains Protein: ENSMUSP00000005488
Gene: ENSMUSG00000005355
AA Change: *258Q

DomainStartEndE-ValueType
CASc 15 257 1.42e-33 SMART
Predicted Effect probably null
Transcript: ENSMUST00000219237
AA Change: *258Q
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bsph2 A T 7: 13,290,301 (GRCm39) D120E probably damaging Het
Ccdc54 A C 16: 50,411,254 (GRCm39) F4C possibly damaging Het
Clcn4 C T 7: 7,293,419 (GRCm39) V475M probably damaging Het
D630045J12Rik C T 6: 38,124,194 (GRCm39) R1586H probably damaging Het
Eml4 T A 17: 83,761,873 (GRCm39) S453R probably damaging Het
Flt1 T C 5: 147,636,631 (GRCm39) K118E probably benign Het
Kif20b A T 19: 34,936,863 (GRCm39) E154D probably damaging Het
Meis2 C T 2: 115,694,731 (GRCm39) V471I probably benign Het
Naa16 G A 14: 79,593,952 (GRCm39) T371I possibly damaging Het
Naa20 A G 2: 145,745,251 (GRCm39) T8A possibly damaging Het
Or13a28 G A 7: 140,218,073 (GRCm39) C153Y possibly damaging Het
Pla2g6 G A 15: 79,201,985 (GRCm39) P62L probably damaging Het
Pmel A G 10: 128,552,317 (GRCm39) T384A probably benign Het
Ryr3 T C 2: 112,462,487 (GRCm39) Y4863C probably damaging Het
Slc4a4 G A 5: 89,297,189 (GRCm39) V510I probably benign Het
Smad3 T A 9: 63,575,148 (GRCm39) Y23F probably benign Het
Sugt1 G A 14: 79,834,241 (GRCm39) A81T probably damaging Het
Svs3b A T 2: 164,098,181 (GRCm39) F47I probably damaging Het
Thbs4 T C 13: 92,899,282 (GRCm39) D571G probably damaging Het
Trav15-1-dv6-1 T C 14: 53,797,485 (GRCm39) Y45H probably damaging Het
Zbtb5 A T 4: 44,994,949 (GRCm39) M145K probably damaging Het
Other mutations in Casp14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01833:Casp14 APN 10 78,551,237 (GRCm39) missense probably damaging 1.00
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 2016-08-02