Incidental Mutation 'IGL02831:Casp7'
ID361433
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Casp7
Ensembl Gene ENSMUSG00000025076
Gene Namecaspase 7
Synonymscaspase-7, ICE-IAP3, CMH-1, Mch3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02831
Quality Score
Status
Chromosome19
Chromosomal Location56397129-56442344 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 56404423 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 3 (D3G)
Ref Sequence ENSEMBL: ENSMUSP00000026062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026062]
Predicted Effect probably benign
Transcript: ENSMUST00000026062
AA Change: D3G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000026062
Gene: ENSMUSG00000025076
AA Change: D3G

DomainStartEndE-ValueType
low complexity region 29 40 N/A INTRINSIC
CASc 59 303 2.2e-135 SMART
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. The precursor of the encoded protein is cleaved by caspase 3 and 10, is activated upon cell death stimuli and induces apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a targeted mutation have normal appearance, organ morphology and lymphoid development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a C T 11: 110,053,081 V1121M probably damaging Het
Acrbp C A 6: 125,061,249 T471N possibly damaging Het
Blnk C T 19: 40,962,429 D93N probably damaging Het
Cd163l1 G T 7: 140,228,521 V782L probably benign Het
Coro1c A T 5: 113,844,408 C456S probably benign Het
Dlec1 T G 9: 119,143,915 L1499R probably damaging Het
Dnah8 T C 17: 30,712,276 S1422P probably benign Het
Exd1 T C 2: 119,528,754 D216G probably damaging Het
Fhit T C 14: 9,870,080 T130A probably benign Het
Frem1 A T 4: 82,956,158 M1409K probably benign Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Glb1l2 A G 9: 26,767,450 V465A probably benign Het
Ints8 T C 4: 11,245,896 Q194R possibly damaging Het
Ip6k2 C T 9: 108,804,534 probably benign Het
Kctd2 T A 11: 115,430,340 *264K probably null Het
Krt34 C A 11: 100,040,147 probably benign Het
Lamc1 A G 1: 153,247,055 S760P probably benign Het
Lrp1b T C 2: 41,193,591 N1702S probably damaging Het
Lrrc8e T A 8: 4,235,429 S551R probably damaging Het
Map3k20 T C 2: 72,371,727 V139A probably damaging Het
Mkl1 A G 15: 81,104,793 L9P probably benign Het
Napsa A G 7: 44,586,760 T408A probably benign Het
Olfr1156 T C 2: 87,949,676 probably null Het
Olfr132 T C 17: 38,130,512 K227E probably benign Het
Olfr1361 T C 13: 21,658,904 I140V probably benign Het
Panx1 A G 9: 15,007,648 L305P probably damaging Het
Pkhd1l1 A G 15: 44,501,493 H676R probably benign Het
Pld1 T A 3: 28,076,425 V458E probably damaging Het
Ppp5c A G 7: 17,008,645 L256P probably damaging Het
Pyroxd2 G T 19: 42,735,903 T307K probably damaging Het
Sin3b A G 8: 72,744,562 E379G probably damaging Het
Slc22a23 T C 13: 34,299,069 T276A possibly damaging Het
Slc26a3 T C 12: 31,452,629 I283T probably damaging Het
Sltm A G 9: 70,584,865 D712G probably damaging Het
Slu7 C T 11: 43,442,653 Q367* probably null Het
Srbd1 T C 17: 86,003,871 N706S probably damaging Het
Supt16 A T 14: 52,170,878 M870K possibly damaging Het
Tnxb T C 17: 34,703,571 Y2453H possibly damaging Het
Tomm40 A G 7: 19,703,089 Y274H probably damaging Het
Utp20 A T 10: 88,815,908 D404E probably benign Het
Vmn2r23 T A 6: 123,704,385 M84K probably benign Het
Wdr70 A G 15: 7,884,306 Y621H possibly damaging Het
Wfdc8 C T 2: 164,605,765 probably null Het
Other mutations in Casp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:Casp7 APN 19 56436745 missense probably benign 0.00
IGL01338:Casp7 APN 19 56404464 missense probably benign
IGL02886:Casp7 APN 19 56433343 missense probably damaging 1.00
R1558:Casp7 UTSW 19 56433252 nonsense probably null
R2026:Casp7 UTSW 19 56436398 missense probably damaging 1.00
R5445:Casp7 UTSW 19 56433338 splice site probably null
R5665:Casp7 UTSW 19 56440982 missense probably benign 0.00
R5765:Casp7 UTSW 19 56433883 missense possibly damaging 0.87
R6207:Casp7 UTSW 19 56441020 missense possibly damaging 0.53
R6893:Casp7 UTSW 19 56433309 missense probably damaging 1.00
R7261:Casp7 UTSW 19 56436333 missense probably benign 0.00
R7271:Casp7 UTSW 19 56436361 missense probably damaging 1.00
R8331:Casp7 UTSW 19 56440965 missense probably damaging 1.00
Posted On2015-12-18