Incidental Mutation 'R4840:Casp14'
ID 371753
Institutional Source Beutler Lab
Gene Symbol Casp14
Ensembl Gene ENSMUSG00000005355
Gene Name caspase 14
Synonyms MICE, mini-ICE
MMRRC Submission 042453-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R4840 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 78547825-78554128 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 78549178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 256 (L256*)
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: L256*
SMART Domains Protein: ENSMUSP00000005488
Gene: ENSMUSG00000005355
AA Change: L256*

DomainStartEndE-ValueType
CASc 15 257 1.42e-33 SMART
Predicted Effect probably null
Transcript: ENSMUST00000219237
AA Change: L256*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 97% (114/117)
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810459M11Rik C A 1: 85,974,166 (GRCm39) T161K probably benign Het
Actn3 G A 19: 4,914,539 (GRCm39) R530W probably damaging Het
Alg11 C T 8: 22,558,026 (GRCm39) A404V possibly damaging Het
Alkbh8 T A 9: 3,369,751 (GRCm39) V340D probably damaging Het
Arhgef12 T C 9: 42,886,364 (GRCm39) H1166R probably benign Het
Aspm T A 1: 139,398,269 (GRCm39) D978E possibly damaging Het
Bod1l C T 5: 41,975,815 (GRCm39) G1833D probably damaging Het
Brd3 A G 2: 27,339,251 (GRCm39) V676A possibly damaging Het
Brip1 G A 11: 86,037,009 (GRCm39) T454I possibly damaging Het
C3ar1 T C 6: 122,827,723 (GRCm39) I165V probably benign Het
Camta1 T A 4: 151,228,864 (GRCm39) Q656L probably benign Het
Cdh23 G T 10: 60,255,556 (GRCm39) H773Q possibly damaging Het
Chd1 G T 17: 15,989,016 (GRCm39) D1590Y probably damaging Het
Chd1 G A 17: 15,989,015 (GRCm39) W1589* probably null Het
Cldn19 A G 4: 119,112,951 (GRCm39) Q61R probably damaging Het
Cyp2a22 A G 7: 26,631,949 (GRCm39) S436P probably benign Het
Emc10 A C 7: 44,142,051 (GRCm39) V124G probably damaging Het
Enam A T 5: 88,650,885 (GRCm39) D723V probably benign Het
Eps8 C A 6: 137,504,128 (GRCm39) Q158H probably damaging Het
Ercc6 G A 14: 32,263,253 (GRCm39) D486N probably damaging Het
Fasn T C 11: 120,703,885 (GRCm39) E1485G possibly damaging Het
Fat2 T C 11: 55,169,844 (GRCm39) K2972E probably benign Het
Fbxw28 T C 9: 109,168,602 (GRCm39) K30R probably null Het
Flot2 T A 11: 77,948,339 (GRCm39) L164Q probably damaging Het
Fsip2 A T 2: 82,815,815 (GRCm39) L3849F probably benign Het
Fsip2 A T 2: 82,779,739 (GRCm39) I162L probably benign Het
Gabrb1 C G 5: 71,858,154 (GRCm39) P60R probably damaging Het
Galnt14 T C 17: 73,811,893 (GRCm39) R443G probably benign Het
Gas8 C T 8: 124,257,753 (GRCm39) T400M probably benign Het
Gfap T C 11: 102,785,214 (GRCm39) Y254C probably damaging Het
Git2 A G 5: 114,883,543 (GRCm39) S396P probably damaging Het
Glb1l3 A T 9: 26,740,349 (GRCm39) M327K probably benign Het
Gm10715 A C 9: 3,038,062 (GRCm39) probably benign Het
Gm10787 G A 10: 76,857,841 (GRCm39) noncoding transcript Het
Gm1123 T A 9: 98,900,622 (GRCm39) D78V probably damaging Het
Gm27013 T C 6: 130,655,079 (GRCm39) T128A probably benign Het
Gpbp1 A G 13: 111,577,164 (GRCm39) probably null Het
Gphn G A 12: 78,569,729 (GRCm39) probably null Het
Gpr157 A G 4: 150,186,823 (GRCm39) E317G probably benign Het
Gsdmc4 T A 15: 63,765,596 (GRCm39) M318L probably benign Het
Gtf2f2 A T 14: 76,248,131 (GRCm39) W19R probably damaging Het
Gvin-ps3 T C 7: 105,680,627 (GRCm39) noncoding transcript Het
Helb A G 10: 119,920,763 (GRCm39) V1060A probably benign Het
Igfn1 C T 1: 135,895,778 (GRCm39) G1596D probably benign Het
Il1rl2 T C 1: 40,366,547 (GRCm39) I27T possibly damaging Het
Inpp5j A G 11: 3,449,676 (GRCm39) V702A probably damaging Het
Kmt2d A C 15: 98,759,775 (GRCm39) V1161G unknown Het
Krtap1-3 T G 11: 99,481,715 (GRCm39) Y144S possibly damaging Het
Layn C T 9: 50,968,682 (GRCm39) V354M probably damaging Het
Lrba G A 3: 86,526,816 (GRCm39) probably null Het
Lrp8 T A 4: 107,727,234 (GRCm39) L893Q possibly damaging Het
Mrps9 T A 1: 42,937,575 (GRCm39) probably benign Het
Mug1 T A 6: 121,862,813 (GRCm39) M1387K probably damaging Het
Myo18b A C 5: 113,021,895 (GRCm39) V499G probably benign Het
Nbea T C 3: 55,618,091 (GRCm39) E2321G probably benign Het
Nrsn2 C T 2: 152,211,552 (GRCm39) V160I probably benign Het
Nup210 G A 6: 91,008,650 (GRCm39) Q510* probably null Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Or2ag12 T G 7: 106,277,330 (GRCm39) D121A probably damaging Het
P3h3 G T 6: 124,827,600 (GRCm39) Q479K possibly damaging Het
Paqr9 T A 9: 95,442,723 (GRCm39) F238I probably damaging Het
Parp3 A T 9: 106,350,308 (GRCm39) L343H probably damaging Het
Pcdh18 A C 3: 49,699,117 (GRCm39) M1115R probably damaging Het
Pcdh8 A G 14: 80,008,308 (GRCm39) V85A possibly damaging Het
Pcdhb4 A G 18: 37,441,452 (GRCm39) N254S possibly damaging Het
Pld1 T C 3: 28,130,700 (GRCm39) V500A probably benign Het
Pramel29 T C 4: 143,935,144 (GRCm39) K199R probably damaging Het
Prkg2 A T 5: 99,129,002 (GRCm39) D311E probably benign Het
Prss42 T C 9: 110,628,369 (GRCm39) L171P probably damaging Het
Pth2 T A 7: 44,830,767 (GRCm39) L17H probably damaging Het
Reln A T 5: 22,223,844 (GRCm39) probably null Het
Rmi2 G T 16: 10,657,701 (GRCm39) V104L probably damaging Het
Rpusd4 T A 9: 35,179,831 (GRCm39) V108D probably damaging Het
Rufy4 C A 1: 74,168,198 (GRCm39) T82K possibly damaging Het
Scimp G A 11: 70,682,294 (GRCm39) Q141* probably null Het
Sel1l2 T C 2: 140,105,390 (GRCm39) T267A probably benign Het
Sema5a T A 15: 32,550,400 (GRCm39) S146R possibly damaging Het
Sh2d3c T C 2: 32,611,172 (GRCm39) M1T probably null Het
Slc30a6 T C 17: 74,712,716 (GRCm39) L71P probably damaging Het
Srrm3 A G 5: 135,883,449 (GRCm39) Y224C possibly damaging Het
Tacr3 A T 3: 134,560,615 (GRCm39) T185S possibly damaging Het
Tas2r140 T A 6: 133,032,528 (GRCm39) T77S probably benign Het
Thsd7b T C 1: 129,523,581 (GRCm39) V128A probably benign Het
Tnfrsf10b T G 14: 70,013,608 (GRCm39) H179Q probably damaging Het
Tonsl A G 15: 76,517,409 (GRCm39) V770A probably benign Het
Trim42 G A 9: 97,244,982 (GRCm39) P606L probably benign Het
Trim45 A T 3: 100,832,804 (GRCm39) T346S possibly damaging Het
Ttc28 C A 5: 111,433,947 (GRCm39) S2296Y probably damaging Het
Ttc41 C T 10: 86,566,989 (GRCm39) R552C probably benign Het
Tube1 A G 10: 39,020,842 (GRCm39) N243D probably benign Het
Tvp23b G T 11: 62,770,424 (GRCm39) probably null Het
Ubxn11 T A 4: 133,836,919 (GRCm39) I49N probably damaging Het
Usp17le T A 7: 104,418,977 (GRCm39) E55V probably benign Het
Vmn2r114 A T 17: 23,510,353 (GRCm39) V709D probably damaging Het
Vmn2r129 G C 4: 156,685,733 (GRCm39) noncoding transcript Het
Vmn2r23 C T 6: 123,690,033 (GRCm39) T303M probably damaging Het
Vmn2r60 C T 7: 41,785,285 (GRCm39) P166S probably damaging Het
Vmn2r83 A G 10: 79,313,682 (GRCm39) I97V possibly damaging Het
Wbp2nl A T 15: 82,198,537 (GRCm39) K358M possibly damaging Het
Xpo1 T A 11: 23,228,183 (GRCm39) I150N probably damaging Het
Zfp113 G A 5: 138,143,687 (GRCm39) L188F probably damaging Het
Zfp189 T G 4: 49,529,984 (GRCm39) S362R probably damaging Het
Zfp593os A G 4: 133,972,587 (GRCm39) probably benign Het
Other mutations in Casp14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01833:Casp14 APN 10 78,551,237 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACAGTGGCGATCTTAGCTGG -3'
(R):5'- GGATACCAACCTGCCTTTCC -3'

Sequencing Primer
(F):5'- GGTTCAGAAAGCTACTACCTCTG -3'
(R):5'- CCTGCAGCCTCATCCCCATG -3'
Posted On 2016-03-01