Incidental Mutation 'R4235:Casp8'
ID |
321041 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Casp8
|
Ensembl Gene |
ENSMUSG00000026029 |
Gene Name |
caspase 8 |
Synonyms |
MACH, Caspase-8, Mch5, FLICE |
MMRRC Submission |
041052-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4235 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
58834533-58886662 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 58872857 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 264
(H264Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027189]
[ENSMUST00000165549]
[ENSMUST00000190213]
[ENSMUST00000191201]
|
AlphaFold |
O89110 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027189
AA Change: H244Q
PolyPhen 2
Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000027189 Gene: ENSMUSG00000026029 AA Change: H244Q
Domain | Start | End | E-Value | Type |
DED
|
1 |
80 |
3.21e-23 |
SMART |
DED
|
99 |
178 |
1.01e-15 |
SMART |
CASc
|
227 |
480 |
2.13e-110 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165549
AA Change: H244Q
PolyPhen 2
Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000127375 Gene: ENSMUSG00000026029 AA Change: H244Q
Domain | Start | End | E-Value | Type |
DED
|
1 |
80 |
3.21e-23 |
SMART |
DED
|
99 |
178 |
1.01e-15 |
SMART |
CASc
|
227 |
480 |
2.13e-110 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190213
AA Change: H264Q
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000140335 Gene: ENSMUSG00000026029 AA Change: H264Q
Domain | Start | End | E-Value | Type |
DED
|
21 |
100 |
1.5e-25 |
SMART |
DED
|
119 |
198 |
5e-18 |
SMART |
CASc
|
247 |
500 |
1.1e-112 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000191201
AA Change: H264Q
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000140546 Gene: ENSMUSG00000026029 AA Change: H264Q
Domain | Start | End | E-Value | Type |
DED
|
21 |
100 |
1.5e-25 |
SMART |
DED
|
119 |
198 |
5e-18 |
SMART |
CASc
|
247 |
500 |
1.1e-112 |
SMART |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
97% (68/70) |
MGI Phenotype |
FUNCTION: This gene is part of a family of caspases, aspartate-specific cysteine proteases well studied for their involvement in immune and apoptosis signaling. This protein, an initiator of apoptotic cell death, is activated by death-inducing tumor necrosis family receptors and targets downstream effectors. In mouse deficiency of this gene can cause embryonic lethality. This protein may have a role in embryogenesis. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Apr 2013] PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired cardiac muscle development, cardiac erythrocyte congestion, low numbers of colony-forming cells, and prenatal lethality. T-cell restricted knockout mice are viable, but immunodeficient. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
5730596B20Rik |
G |
T |
6: 52,155,941 (GRCm39) |
|
probably benign |
Het |
Akap6 |
T |
A |
12: 53,186,454 (GRCm39) |
N1289K |
probably damaging |
Het |
Arhgap21 |
A |
G |
2: 20,891,948 (GRCm39) |
V161A |
probably damaging |
Het |
Arhgef18 |
T |
C |
8: 3,500,317 (GRCm39) |
I541T |
possibly damaging |
Het |
Atp7b |
A |
G |
8: 22,501,039 (GRCm39) |
Y955H |
possibly damaging |
Het |
Bnc2 |
A |
G |
4: 84,211,751 (GRCm39) |
V231A |
probably damaging |
Het |
Bod1l |
A |
G |
5: 41,978,798 (GRCm39) |
S839P |
probably damaging |
Het |
Cc2d1b |
A |
T |
4: 108,482,549 (GRCm39) |
|
probably benign |
Het |
Cpne6 |
A |
T |
14: 55,751,057 (GRCm39) |
|
probably benign |
Het |
Ddx1 |
C |
T |
12: 13,273,858 (GRCm39) |
V590I |
possibly damaging |
Het |
Dgkd |
T |
A |
1: 87,859,704 (GRCm39) |
L774* |
probably null |
Het |
Fbxl2 |
T |
A |
9: 113,818,231 (GRCm39) |
N205I |
probably benign |
Het |
Fcgbpl1 |
T |
A |
7: 27,856,073 (GRCm39) |
D1953E |
probably damaging |
Het |
Fkbp15 |
A |
T |
4: 62,254,693 (GRCm39) |
I269K |
probably benign |
Het |
Gm26678 |
T |
C |
3: 54,540,504 (GRCm39) |
|
noncoding transcript |
Het |
Has1 |
G |
T |
17: 18,070,298 (GRCm39) |
R208S |
possibly damaging |
Het |
Hecw1 |
C |
G |
13: 14,491,724 (GRCm39) |
A423P |
probably benign |
Het |
Hspa12b |
T |
C |
2: 130,980,932 (GRCm39) |
V162A |
probably benign |
Het |
Ifi208 |
T |
G |
1: 173,510,477 (GRCm39) |
S211A |
probably benign |
Het |
Ighv6-3 |
T |
C |
12: 114,355,494 (GRCm39) |
E65G |
probably damaging |
Het |
Igkv9-120 |
A |
T |
6: 68,027,317 (GRCm39) |
D77V |
probably benign |
Het |
Impg1 |
A |
G |
9: 80,252,611 (GRCm39) |
L523P |
probably damaging |
Het |
Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
Kdm2a |
A |
G |
19: 4,372,549 (GRCm39) |
I932T |
probably damaging |
Het |
Krt17 |
T |
C |
11: 100,148,694 (GRCm39) |
T279A |
possibly damaging |
Het |
Lamp1 |
T |
C |
8: 13,217,192 (GRCm39) |
V67A |
possibly damaging |
Het |
Limk1 |
T |
C |
5: 134,699,332 (GRCm39) |
I142V |
probably benign |
Het |
Mamdc2 |
T |
C |
19: 23,351,381 (GRCm39) |
N182D |
possibly damaging |
Het |
Mcpt1 |
G |
A |
14: 56,256,017 (GRCm39) |
|
probably null |
Het |
Med12l |
T |
G |
3: 59,164,644 (GRCm39) |
|
probably null |
Het |
Mfsd10 |
G |
T |
5: 34,792,969 (GRCm39) |
T44N |
probably damaging |
Het |
Mrps27 |
T |
C |
13: 99,541,549 (GRCm39) |
S218P |
probably damaging |
Het |
Mrps30 |
T |
C |
13: 118,523,376 (GRCm39) |
D132G |
probably damaging |
Het |
Neil2 |
A |
C |
14: 63,429,290 (GRCm39) |
M1R |
probably null |
Het |
Nelfcd |
T |
C |
2: 174,268,841 (GRCm39) |
F587L |
probably damaging |
Het |
Nfil3 |
T |
C |
13: 53,122,835 (GRCm39) |
D23G |
probably benign |
Het |
Nit2 |
T |
C |
16: 56,977,523 (GRCm39) |
K169R |
probably benign |
Het |
Nxt1 |
T |
C |
2: 148,517,267 (GRCm39) |
S3P |
probably benign |
Het |
Ogt |
A |
G |
X: 100,711,131 (GRCm39) |
N434D |
probably damaging |
Het |
Or56a3 |
T |
A |
7: 104,734,994 (GRCm39) |
S24T |
possibly damaging |
Het |
Pcdhga5 |
A |
G |
18: 37,829,001 (GRCm39) |
D483G |
possibly damaging |
Het |
Pramel25 |
G |
C |
4: 143,521,344 (GRCm39) |
C320S |
probably damaging |
Het |
Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
Rsl1 |
T |
C |
13: 67,325,226 (GRCm39) |
|
probably null |
Het |
Sobp |
G |
A |
10: 42,898,896 (GRCm39) |
H230Y |
probably damaging |
Het |
Sptan1 |
A |
G |
2: 29,916,600 (GRCm39) |
E2096G |
probably damaging |
Het |
Tie1 |
G |
T |
4: 118,335,602 (GRCm39) |
S797* |
probably null |
Het |
Tmem266 |
T |
C |
9: 55,325,391 (GRCm39) |
I186T |
probably damaging |
Het |
Tmem38b |
T |
C |
4: 53,840,710 (GRCm39) |
C66R |
probably damaging |
Het |
Tnfaip6 |
T |
C |
2: 51,940,876 (GRCm39) |
F139S |
probably damaging |
Het |
Tnrc6a |
T |
C |
7: 122,770,903 (GRCm39) |
S898P |
probably benign |
Het |
Trim24 |
A |
G |
6: 37,941,675 (GRCm39) |
D911G |
probably damaging |
Het |
Tyw5 |
T |
C |
1: 57,427,647 (GRCm39) |
|
probably benign |
Het |
Ubr3 |
C |
T |
2: 69,846,729 (GRCm39) |
Q1651* |
probably null |
Het |
Unc13c |
T |
A |
9: 73,438,234 (GRCm39) |
I1943F |
possibly damaging |
Het |
Usp47 |
T |
A |
7: 111,709,255 (GRCm39) |
S1334T |
probably damaging |
Het |
Vmn1r215 |
T |
A |
13: 23,260,101 (GRCm39) |
V47E |
probably benign |
Het |
Vmn1r224 |
T |
A |
17: 20,639,624 (GRCm39) |
M67K |
possibly damaging |
Het |
Wdfy3 |
T |
A |
5: 102,070,500 (GRCm39) |
|
probably null |
Het |
Zfc3h1 |
T |
C |
10: 115,254,704 (GRCm39) |
Y1433H |
probably benign |
Het |
|
Other mutations in Casp8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00684:Casp8
|
APN |
1 |
58,866,473 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00825:Casp8
|
APN |
1 |
58,868,165 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02025:Casp8
|
APN |
1 |
58,863,306 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02549:Casp8
|
APN |
1 |
58,872,925 (GRCm39) |
missense |
probably benign |
|
amontillado
|
UTSW |
1 |
58,883,929 (GRCm39) |
missense |
probably damaging |
1.00 |
Porto
|
UTSW |
1 |
58,872,857 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02991:Casp8
|
UTSW |
1 |
58,866,438 (GRCm39) |
missense |
probably benign |
0.00 |
R0609:Casp8
|
UTSW |
1 |
58,883,951 (GRCm39) |
missense |
probably benign |
0.00 |
R0960:Casp8
|
UTSW |
1 |
58,868,172 (GRCm39) |
critical splice donor site |
probably null |
|
R1433:Casp8
|
UTSW |
1 |
58,863,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R1505:Casp8
|
UTSW |
1 |
58,868,081 (GRCm39) |
missense |
probably damaging |
0.99 |
R1506:Casp8
|
UTSW |
1 |
58,863,355 (GRCm39) |
missense |
probably damaging |
0.97 |
R1596:Casp8
|
UTSW |
1 |
58,870,833 (GRCm39) |
splice site |
probably benign |
|
R1674:Casp8
|
UTSW |
1 |
58,883,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R1676:Casp8
|
UTSW |
1 |
58,883,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R1981:Casp8
|
UTSW |
1 |
58,868,121 (GRCm39) |
splice site |
probably null |
|
R3909:Casp8
|
UTSW |
1 |
58,883,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R3911:Casp8
|
UTSW |
1 |
58,872,864 (GRCm39) |
missense |
probably damaging |
1.00 |
R4231:Casp8
|
UTSW |
1 |
58,883,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R4233:Casp8
|
UTSW |
1 |
58,883,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R4234:Casp8
|
UTSW |
1 |
58,883,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R4236:Casp8
|
UTSW |
1 |
58,883,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R4917:Casp8
|
UTSW |
1 |
58,866,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R4918:Casp8
|
UTSW |
1 |
58,866,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R5063:Casp8
|
UTSW |
1 |
58,883,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R5092:Casp8
|
UTSW |
1 |
58,883,835 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5153:Casp8
|
UTSW |
1 |
58,884,004 (GRCm39) |
missense |
probably benign |
0.00 |
R5964:Casp8
|
UTSW |
1 |
58,872,895 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5979:Casp8
|
UTSW |
1 |
58,868,071 (GRCm39) |
missense |
probably benign |
|
R7602:Casp8
|
UTSW |
1 |
58,872,898 (GRCm39) |
missense |
probably benign |
0.43 |
R7675:Casp8
|
UTSW |
1 |
58,863,106 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8272:Casp8
|
UTSW |
1 |
58,872,901 (GRCm39) |
missense |
probably damaging |
0.96 |
R8714:Casp8
|
UTSW |
1 |
58,872,812 (GRCm39) |
missense |
possibly damaging |
0.57 |
R8747:Casp8
|
UTSW |
1 |
58,883,617 (GRCm39) |
missense |
probably benign |
0.00 |
R9279:Casp8
|
UTSW |
1 |
58,883,542 (GRCm39) |
missense |
probably benign |
0.20 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAATGGAAGGAGCCTATGC -3'
(R):5'- CCAGTATAGGGTAATGCCAGG -3'
Sequencing Primer
(F):5'- GCCTATGCTTGCCTGAGG -3'
(R):5'- GGATTTTCTGGATAGCATTTGAAATG -3'
|
Posted On |
2015-06-12 |