Incidental Mutation 'IGL02831:Casp7'
ID 361433
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Casp7
Ensembl Gene ENSMUSG00000025076
Gene Name caspase 7
Synonyms ICE-IAP3, CMH-1, caspase-7, Mch3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02831
Quality Score
Status
Chromosome 19
Chromosomal Location 56385561-56430776 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56392855 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P97864
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: 109,943,907 (GRCm39) V1121M probably damaging Het
Acrbp C A 6: 125,038,212 (GRCm39) T471N possibly damaging Het
Blnk C T 19: 40,950,873 (GRCm39) D93N probably damaging Het
Coro1c A T 5: 113,982,469 (GRCm39) C456S probably benign Het
Dlec1 T G 9: 118,972,983 (GRCm39) L1499R probably damaging Het
Dnah8 T C 17: 30,931,250 (GRCm39) S1422P probably benign Het
Exd1 T C 2: 119,359,235 (GRCm39) D216G probably damaging Het
Fhit T C 14: 9,870,080 (GRCm38) T130A probably benign Het
Frem1 A T 4: 82,874,395 (GRCm39) M1409K probably benign Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Glb1l2 A G 9: 26,678,746 (GRCm39) V465A probably benign Het
Ints8 T C 4: 11,245,896 (GRCm39) Q194R possibly damaging Het
Ip6k2 C T 9: 108,681,733 (GRCm39) probably benign Het
Kctd2 T A 11: 115,321,166 (GRCm39) *264K probably null Het
Krt34 C A 11: 99,930,973 (GRCm39) probably benign Het
Lamc1 A G 1: 153,122,801 (GRCm39) S760P probably benign Het
Lrp1b T C 2: 41,083,603 (GRCm39) N1702S probably damaging Het
Lrrc8e T A 8: 4,285,429 (GRCm39) S551R probably damaging Het
Map3k20 T C 2: 72,202,071 (GRCm39) V139A probably damaging Het
Mrtfa A G 15: 80,988,994 (GRCm39) L9P probably benign Het
Napsa A G 7: 44,236,184 (GRCm39) T408A probably benign Het
Or2h15 T C 17: 38,441,403 (GRCm39) K227E probably benign Het
Or2w6 T C 13: 21,843,074 (GRCm39) I140V probably benign Het
Or5l13 T C 2: 87,780,020 (GRCm39) probably null Het
Panx1 A G 9: 14,918,944 (GRCm39) L305P probably damaging Het
Pkhd1l1 A G 15: 44,364,889 (GRCm39) H676R probably benign Het
Pld1 T A 3: 28,130,574 (GRCm39) V458E probably damaging Het
Ppp5c A G 7: 16,742,570 (GRCm39) L256P probably damaging Het
Pyroxd2 G T 19: 42,724,342 (GRCm39) T307K probably damaging Het
Scart1 G T 7: 139,808,434 (GRCm39) V782L probably benign Het
Sin3b A G 8: 73,471,190 (GRCm39) E379G probably damaging Het
Slc22a23 T C 13: 34,483,052 (GRCm39) T276A possibly damaging Het
Slc26a3 T C 12: 31,502,628 (GRCm39) I283T probably damaging Het
Sltm A G 9: 70,492,147 (GRCm39) D712G probably damaging Het
Slu7 C T 11: 43,333,480 (GRCm39) Q367* probably null Het
Srbd1 T C 17: 86,311,299 (GRCm39) N706S probably damaging Het
Supt16 A T 14: 52,408,335 (GRCm39) M870K possibly damaging Het
Tnxb T C 17: 34,922,545 (GRCm39) Y2453H possibly damaging Het
Tomm40 A G 7: 19,437,014 (GRCm39) Y274H probably damaging Het
Utp20 A T 10: 88,651,770 (GRCm39) D404E probably benign Het
Vmn2r23 T A 6: 123,681,344 (GRCm39) M84K probably benign Het
Wdr70 A G 15: 7,913,787 (GRCm39) Y621H possibly damaging Het
Wfdc8 C T 2: 164,447,685 (GRCm39) probably null Het
Other mutations in Casp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:Casp7 APN 19 56,425,177 (GRCm39) missense probably benign 0.00
IGL01338:Casp7 APN 19 56,392,896 (GRCm39) missense probably benign
IGL02886:Casp7 APN 19 56,421,775 (GRCm39) missense probably damaging 1.00
R1558:Casp7 UTSW 19 56,421,684 (GRCm39) nonsense probably null
R2026:Casp7 UTSW 19 56,424,830 (GRCm39) missense probably damaging 1.00
R5445:Casp7 UTSW 19 56,421,770 (GRCm39) splice site probably null
R5665:Casp7 UTSW 19 56,429,414 (GRCm39) missense probably benign 0.00
R5765:Casp7 UTSW 19 56,422,315 (GRCm39) missense possibly damaging 0.87
R6207:Casp7 UTSW 19 56,429,452 (GRCm39) missense possibly damaging 0.53
R6893:Casp7 UTSW 19 56,421,741 (GRCm39) missense probably damaging 1.00
R7261:Casp7 UTSW 19 56,424,765 (GRCm39) missense probably benign 0.00
R7271:Casp7 UTSW 19 56,424,793 (GRCm39) missense probably damaging 1.00
R8331:Casp7 UTSW 19 56,429,397 (GRCm39) missense probably damaging 1.00
R9498:Casp7 UTSW 19 56,424,767 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18