Incidental Mutation 'IGL01109:Casp7'
ID 53259
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 # IGL01109
Quality Score
Status
Chromosome 19
Chromosomal Location 56385561-56430776 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 56425177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 193 (D193E)
Ref Sequence ENSEMBL: ENSMUSP00000026062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026062]
AlphaFold P97864
Predicted Effect probably benign
Transcript: ENSMUST00000026062
AA Change: D193E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000026062
Gene: ENSMUSG00000025076
AA Change: D193E

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 T C 18: 65,440,211 (GRCm39) D861G probably benign Het
Anapc4 A G 5: 53,005,970 (GRCm39) T326A probably damaging Het
Atm T C 9: 53,401,593 (GRCm39) I1425M probably damaging Het
Bend5 T C 4: 111,305,838 (GRCm39) L294P probably damaging Het
Cdc16 T C 8: 13,814,606 (GRCm39) V130A probably benign Het
Chl1 T G 6: 103,692,354 (GRCm39) Y331D probably damaging Het
Cntn1 C A 15: 92,237,458 (GRCm39) Y1017* probably null Het
Cyb5d1 C A 11: 69,284,610 (GRCm39) probably null Het
Cyp2c38 A G 19: 39,451,329 (GRCm39) probably null Het
Dzip3 T C 16: 48,750,037 (GRCm39) M827V probably benign Het
Ehd1 T A 19: 6,348,177 (GRCm39) M385K possibly damaging Het
Eya3 C A 4: 132,420,311 (GRCm39) Y52* probably null Het
Itsn1 C T 16: 91,603,089 (GRCm39) probably benign Het
Ktn1 A T 14: 47,952,178 (GRCm39) N983I probably damaging Het
Lrrk2 T A 15: 91,623,035 (GRCm39) N1068K probably damaging Het
Mup6 T A 4: 60,006,001 (GRCm39) N156K probably damaging Het
Nedd9 T A 13: 41,469,710 (GRCm39) H481L probably benign Het
Obscn T C 11: 59,024,588 (GRCm39) D484G probably damaging Het
Ogdh T C 11: 6,298,790 (GRCm39) V674A probably damaging Het
Or4a27 T C 2: 88,559,409 (GRCm39) D178G probably damaging Het
Or4f54 G A 2: 111,122,864 (GRCm39) D84N probably benign Het
Or5b113 A G 19: 13,342,063 (GRCm39) I24V probably benign Het
Or5d38 T C 2: 87,955,023 (GRCm39) Q102R probably damaging Het
Or8g53 T C 9: 39,683,293 (GRCm39) M268V probably benign Het
Or8k32 T A 2: 86,368,674 (GRCm39) D195V probably benign Het
Osbpl6 A G 2: 76,379,871 (GRCm39) T154A probably damaging Het
P2rx1 T C 11: 72,899,041 (GRCm39) V84A probably damaging Het
Pcdh11x G A X: 119,310,611 (GRCm39) V685I possibly damaging Het
Ppp4r3b T A 11: 29,138,288 (GRCm39) V212E probably damaging Het
Prune2 A G 19: 17,101,243 (GRCm39) D2249G probably benign Het
Slc5a8 T A 10: 88,742,254 (GRCm39) S317T possibly damaging Het
Ssc5d T A 7: 4,940,111 (GRCm39) L822* probably null Het
Swt1 A G 1: 151,286,890 (GRCm39) S201P probably damaging Het
Tet1 T A 10: 62,715,553 (GRCm39) M81L probably benign Het
Tex9 T A 9: 72,395,349 (GRCm39) N39I probably damaging Het
Ttc4 T C 4: 106,520,360 (GRCm39) Y378C probably damaging Het
Ubap2 T C 4: 41,195,155 (GRCm39) N1131S probably damaging Het
Ugt2b35 C T 5: 87,156,165 (GRCm39) T419I probably damaging Het
Ugt3a1 T G 15: 9,367,354 (GRCm39) F366V probably damaging Het
Zfp324 A G 7: 12,703,362 (GRCm39) T95A probably benign Het
Other mutations in Casp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01338:Casp7 APN 19 56,392,896 (GRCm39) missense probably benign
IGL02831:Casp7 APN 19 56,392,855 (GRCm39) missense probably benign 0.01
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 2013-06-21