Incidental Mutation 'IGL01753:Casp3'
ID |
153169 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Casp3
|
Ensembl Gene |
ENSMUSG00000031628 |
Gene Name |
caspase 3 |
Synonyms |
AC-3, Apopain, Caspase-3, CPP32, Yama, A830040C14Rik, CC3, mldy |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01753
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
47070326-47092724 bp(+) (GRCm39) |
Type of Mutation |
utr 5 prime |
DNA Base Change (assembly) |
A to G
at 47082776 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147767
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093517]
[ENSMUST00000210534]
[ENSMUST00000211115]
|
AlphaFold |
P70677 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000093517
|
SMART Domains |
Protein: ENSMUSP00000091238 Gene: ENSMUSG00000031628
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts1 |
A |
G |
16: 85,599,112 (GRCm39) |
F163L |
probably benign |
Het |
Ap2b1 |
A |
G |
11: 83,212,799 (GRCm39) |
T60A |
probably damaging |
Het |
Ces1d |
T |
C |
8: 93,919,438 (GRCm39) |
Y118C |
probably damaging |
Het |
Chuk |
T |
C |
19: 44,087,015 (GRCm39) |
|
probably benign |
Het |
Clec4b2 |
A |
T |
6: 123,179,169 (GRCm39) |
Y157F |
possibly damaging |
Het |
Crppa |
C |
T |
12: 36,523,176 (GRCm39) |
L202F |
probably damaging |
Het |
Dlg4 |
T |
A |
11: 69,932,173 (GRCm39) |
F480I |
probably damaging |
Het |
Dock8 |
T |
A |
19: 25,038,656 (GRCm39) |
|
probably benign |
Het |
Dsg1b |
T |
C |
18: 20,530,906 (GRCm39) |
|
probably benign |
Het |
Dstyk |
T |
C |
1: 132,390,677 (GRCm39) |
Y830H |
probably damaging |
Het |
Hook2 |
T |
C |
8: 85,719,865 (GRCm39) |
|
probably null |
Het |
Ighv2-9-1 |
T |
C |
12: 113,733,548 (GRCm39) |
D91G |
probably damaging |
Het |
Igkv12-41 |
T |
C |
6: 69,835,510 (GRCm39) |
R81G |
probably damaging |
Het |
Jmjd1c |
T |
A |
10: 67,067,794 (GRCm39) |
S1766T |
probably damaging |
Het |
Mdn1 |
G |
A |
4: 32,708,483 (GRCm39) |
V1670I |
probably benign |
Het |
Naa15 |
T |
C |
3: 51,350,274 (GRCm39) |
F124L |
probably damaging |
Het |
Nek2 |
C |
T |
1: 191,557,598 (GRCm39) |
Q187* |
probably null |
Het |
Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
Pif1 |
G |
A |
9: 65,500,590 (GRCm39) |
G505D |
probably damaging |
Het |
Plxna4 |
T |
A |
6: 32,287,413 (GRCm39) |
I495F |
probably benign |
Het |
Ppp1r21 |
T |
C |
17: 88,869,530 (GRCm39) |
|
probably benign |
Het |
Prex1 |
T |
C |
2: 166,444,802 (GRCm39) |
I282V |
probably benign |
Het |
Pzp |
A |
T |
6: 128,479,146 (GRCm39) |
I669N |
possibly damaging |
Het |
Sipa1l2 |
T |
A |
8: 126,180,031 (GRCm39) |
|
probably benign |
Het |
Top2a |
T |
A |
11: 98,898,100 (GRCm39) |
T689S |
probably damaging |
Het |
Trerf1 |
T |
A |
17: 47,626,362 (GRCm39) |
|
noncoding transcript |
Het |
Uso1 |
T |
C |
5: 92,300,777 (GRCm39) |
|
probably null |
Het |
Vmn2r-ps158 |
T |
A |
7: 42,674,139 (GRCm39) |
V399E |
probably damaging |
Het |
Zcchc7 |
A |
G |
4: 44,929,217 (GRCm39) |
I390V |
probably benign |
Het |
Zfp90 |
C |
T |
8: 107,150,782 (GRCm39) |
T165I |
probably benign |
Het |
|
Other mutations in Casp3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
warner
|
UTSW |
8 |
47,088,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R0601:Casp3
|
UTSW |
8 |
47,089,262 (GRCm39) |
missense |
probably benign |
0.00 |
R1541:Casp3
|
UTSW |
8 |
47,087,369 (GRCm39) |
missense |
probably benign |
0.02 |
R1648:Casp3
|
UTSW |
8 |
47,091,109 (GRCm39) |
missense |
probably benign |
|
R2046:Casp3
|
UTSW |
8 |
47,082,761 (GRCm39) |
splice site |
probably benign |
|
R2159:Casp3
|
UTSW |
8 |
47,087,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R2176:Casp3
|
UTSW |
8 |
47,082,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R2251:Casp3
|
UTSW |
8 |
47,090,990 (GRCm39) |
missense |
probably damaging |
0.98 |
R2252:Casp3
|
UTSW |
8 |
47,090,990 (GRCm39) |
missense |
probably damaging |
0.98 |
R2253:Casp3
|
UTSW |
8 |
47,090,990 (GRCm39) |
missense |
probably damaging |
0.98 |
R4095:Casp3
|
UTSW |
8 |
47,087,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R4209:Casp3
|
UTSW |
8 |
47,088,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R4211:Casp3
|
UTSW |
8 |
47,088,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R4868:Casp3
|
UTSW |
8 |
47,087,314 (GRCm39) |
missense |
probably benign |
0.01 |
R5713:Casp3
|
UTSW |
8 |
47,089,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R6847:Casp3
|
UTSW |
8 |
47,089,301 (GRCm39) |
missense |
probably benign |
0.00 |
R6957:Casp3
|
UTSW |
8 |
47,087,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R7196:Casp3
|
UTSW |
8 |
47,088,498 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7608:Casp3
|
UTSW |
8 |
47,087,368 (GRCm39) |
missense |
probably benign |
|
R7682:Casp3
|
UTSW |
8 |
47,085,420 (GRCm39) |
missense |
probably benign |
0.05 |
|
Posted On |
2014-02-04 |