Incidental Mutation 'IGL01753:Casp3'
ID153169
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Casp3
Ensembl Gene ENSMUSG00000031628
Gene Namecaspase 3
Synonymsmldy, Yama, Caspase-3, Apopain, CPP32, A830040C14Rik, CC3, AC-3
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01753
Quality Score
Status
Chromosome8
Chromosomal Location46617291-46639689 bp(+) (GRCm38)
Type of Mutationutr 5 prime
DNA Base Change (assembly) A to G at 46629741 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093517] [ENSMUST00000210534] [ENSMUST00000211115]
Predicted Effect probably benign
Transcript: ENSMUST00000093517
SMART Domains Protein: ENSMUSP00000091238
Gene: ENSMUSG00000031628

DomainStartEndE-ValueType
CASc 36 277 9.95e-143 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209668
Predicted Effect probably benign
Transcript: ENSMUST00000210534
Predicted Effect probably benign
Transcript: ENSMUST00000211115
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein that belongs to a highly conserved family of cysteinyl aspartate-specific proteases that function as essential regulators of programmed cell death through apoptosis. Members of this family contain an N-terminal pro-domain and require cleavage at specific aspartate residues to become mature. The protein encoded by this gene belongs to a subgroup of cysteinyl aspartate-specific proteases that are activated by initiator caspases and that perform the proteolytic cleavage of apoptotic target proteins. Mice defective for this gene exhibit a variety of phenotypes including reduced neuronal apoptosis resulting in hyperplasias, hearing loss, attenuated osteogenic differentiation of bone marrow stromal stem cells, and pre- and post-natal lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Some homozygous animals show defects in brain development by embryonic day 12, reduced neuronal apoptosis causing hyperplasias, and pre- and postnatal lethality. Other homozygous animals exhibit only hearing loss, inner ear defects and degeneration of spiral ganglion neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts1 A G 16: 85,802,224 F163L probably benign Het
Ap2b1 A G 11: 83,321,973 T60A probably damaging Het
Ces1d T C 8: 93,192,810 Y118C probably damaging Het
Chuk T C 19: 44,098,576 probably benign Het
Clec4b2 A T 6: 123,202,210 Y157F possibly damaging Het
Dlg4 T A 11: 70,041,347 F480I probably damaging Het
Dock8 T A 19: 25,061,292 probably benign Het
Dsg1b T C 18: 20,397,849 probably benign Het
Dstyk T C 1: 132,462,939 Y830H probably damaging Het
Gm9268 T A 7: 43,024,715 V399E probably damaging Het
Hook2 T C 8: 84,993,236 probably null Het
Ighv2-9-1 T C 12: 113,769,928 D91G probably damaging Het
Igkv12-41 T C 6: 69,858,526 R81G probably damaging Het
Ispd C T 12: 36,473,177 L202F probably damaging Het
Jmjd1c T A 10: 67,232,015 S1766T probably damaging Het
Mdn1 G A 4: 32,708,483 V1670I probably benign Het
Naa15 T C 3: 51,442,853 F124L probably damaging Het
Nek2 C T 1: 191,825,486 Q187* probably null Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Pif1 G A 9: 65,593,308 G505D probably damaging Het
Plxna4 T A 6: 32,310,478 I495F probably benign Het
Ppp1r21 T C 17: 88,562,102 probably benign Het
Prex1 T C 2: 166,602,882 I282V probably benign Het
Pzp A T 6: 128,502,183 I669N possibly damaging Het
Sipa1l2 T A 8: 125,453,292 probably benign Het
Top2a T A 11: 99,007,274 T689S probably damaging Het
Trerf1 T A 17: 47,315,436 noncoding transcript Het
Uso1 T C 5: 92,152,918 probably null Het
Zcchc7 A G 4: 44,929,217 I390V probably benign Het
Zfp90 C T 8: 106,424,150 T165I probably benign Het
Other mutations in Casp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
warner UTSW 8 46635388 missense probably damaging 1.00
R0601:Casp3 UTSW 8 46636227 missense probably benign 0.00
R1541:Casp3 UTSW 8 46634334 missense probably benign 0.02
R1648:Casp3 UTSW 8 46638074 missense probably benign
R2046:Casp3 UTSW 8 46629726 splice site probably benign
R2159:Casp3 UTSW 8 46634288 missense probably damaging 1.00
R2176:Casp3 UTSW 8 46629756 missense probably damaging 1.00
R2251:Casp3 UTSW 8 46637955 missense probably damaging 0.98
R2252:Casp3 UTSW 8 46637955 missense probably damaging 0.98
R2253:Casp3 UTSW 8 46637955 missense probably damaging 0.98
R4095:Casp3 UTSW 8 46634216 missense probably damaging 1.00
R4209:Casp3 UTSW 8 46635388 missense probably damaging 1.00
R4211:Casp3 UTSW 8 46635388 missense probably damaging 1.00
R4868:Casp3 UTSW 8 46634279 missense probably benign 0.01
R5713:Casp3 UTSW 8 46636314 missense probably damaging 1.00
R6847:Casp3 UTSW 8 46636266 missense probably benign 0.00
R6957:Casp3 UTSW 8 46634273 missense probably damaging 1.00
R7196:Casp3 UTSW 8 46635463 missense possibly damaging 0.94
Posted On2014-02-04