Incidental Mutation 'R8747:Casp8'
ID |
663581 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Casp8
|
Ensembl Gene |
ENSMUSG00000026029 |
Gene Name |
caspase 8 |
Synonyms |
MACH, Caspase-8, Mch5, FLICE |
MMRRC Submission |
068618-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8747 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
58834533-58886662 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58883617 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 308
(N308S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027189
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027189]
[ENSMUST00000165549]
[ENSMUST00000190213]
[ENSMUST00000191201]
|
AlphaFold |
O89110 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027189
AA Change: N308S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000027189 Gene: ENSMUSG00000026029 AA Change: N308S
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 |
probably benign
Transcript: ENSMUST00000165549
AA Change: N308S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000127375 Gene: ENSMUSG00000026029 AA Change: N308S
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 |
probably benign
Transcript: ENSMUST00000190213
AA Change: N328S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000140335 Gene: ENSMUSG00000026029 AA Change: N328S
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 |
probably benign
Transcript: ENSMUST00000191201
AA Change: N328S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000140546 Gene: ENSMUSG00000026029 AA Change: N328S
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
Validation Efficiency |
100% (52/52) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700109H08Rik |
A |
G |
5: 3,632,240 (GRCm39) |
D190G |
probably benign |
Het |
Abhd11 |
A |
G |
5: 135,040,760 (GRCm39) |
I271V |
possibly damaging |
Het |
Akap6 |
T |
G |
12: 53,188,999 (GRCm39) |
S2138A |
probably benign |
Het |
Amn |
C |
A |
12: 111,241,440 (GRCm39) |
P235H |
probably damaging |
Het |
Arf2 |
A |
T |
11: 103,859,975 (GRCm39) |
M18L |
probably benign |
Het |
Asic2 |
A |
T |
11: 81,043,233 (GRCm39) |
F20Y |
possibly damaging |
Het |
Bok |
T |
C |
1: 93,622,664 (GRCm39) |
|
probably null |
Het |
Cachd1 |
T |
A |
4: 100,860,045 (GRCm39) |
|
probably benign |
Het |
Cavin3 |
G |
T |
7: 105,131,154 (GRCm39) |
H71Q |
possibly damaging |
Het |
Ccdc87 |
A |
G |
19: 4,891,646 (GRCm39) |
I713V |
probably benign |
Het |
Clcn6 |
A |
T |
4: 148,093,354 (GRCm39) |
|
probably null |
Het |
Cmas |
T |
C |
6: 142,716,927 (GRCm39) |
I273T |
possibly damaging |
Het |
Ctxn3 |
A |
T |
18: 57,610,378 (GRCm39) |
D65V |
probably damaging |
Het |
D130040H23Rik |
C |
A |
8: 69,755,705 (GRCm39) |
N387K |
probably benign |
Het |
Depp1 |
T |
A |
6: 116,629,122 (GRCm39) |
L155Q |
possibly damaging |
Het |
Dnah9 |
T |
C |
11: 65,818,816 (GRCm39) |
K3174R |
possibly damaging |
Het |
Ecpas |
C |
T |
4: 58,828,632 (GRCm39) |
V934I |
probably damaging |
Het |
Efcab14 |
A |
G |
4: 115,603,793 (GRCm39) |
N157S |
probably damaging |
Het |
Ets1 |
G |
A |
9: 32,641,474 (GRCm39) |
G109D |
probably damaging |
Het |
Fbln5 |
G |
A |
12: 101,734,754 (GRCm39) |
R173C |
probably damaging |
Het |
Fchsd1 |
G |
A |
18: 38,096,035 (GRCm39) |
P525L |
probably benign |
Het |
Gmppa |
G |
A |
1: 75,416,025 (GRCm39) |
V156I |
probably damaging |
Het |
Gtpbp1 |
A |
G |
15: 79,603,482 (GRCm39) |
D182G |
|
Het |
Ift140 |
T |
A |
17: 25,254,809 (GRCm39) |
S430T |
probably benign |
Het |
Kat7 |
G |
C |
11: 95,185,392 (GRCm39) |
C161W |
probably damaging |
Het |
Lipk |
T |
A |
19: 33,996,184 (GRCm39) |
M32K |
probably damaging |
Het |
Lum |
A |
T |
10: 97,404,351 (GRCm39) |
D82V |
possibly damaging |
Het |
Macf1 |
C |
A |
4: 123,248,944 (GRCm39) |
A7196S |
probably damaging |
Het |
Mroh2b |
T |
A |
15: 4,964,782 (GRCm39) |
S926T |
probably damaging |
Het |
Nbn |
G |
T |
4: 15,981,555 (GRCm39) |
R549I |
probably damaging |
Het |
Nfu1 |
T |
C |
6: 86,996,400 (GRCm39) |
I117T |
probably damaging |
Het |
Or51f1 |
T |
C |
7: 102,506,139 (GRCm39) |
T117A |
probably benign |
Het |
Or7a39 |
A |
G |
10: 78,715,155 (GRCm39) |
T50A |
probably benign |
Het |
Parp1 |
T |
C |
1: 180,422,275 (GRCm39) |
L778P |
probably damaging |
Het |
Pbld2 |
G |
T |
10: 62,888,069 (GRCm39) |
V125F |
probably benign |
Het |
Prkag2 |
A |
G |
5: 25,085,680 (GRCm39) |
|
probably null |
Het |
Prss54 |
A |
G |
8: 96,286,351 (GRCm39) |
F241L |
probably benign |
Het |
Rnf121 |
T |
C |
7: 101,678,316 (GRCm39) |
D177G |
probably damaging |
Het |
Slc12a7 |
G |
A |
13: 73,933,241 (GRCm39) |
V100I |
probably benign |
Het |
Slc28a1 |
C |
T |
7: 80,774,719 (GRCm39) |
L189F |
possibly damaging |
Het |
Slc35a3 |
T |
C |
3: 116,488,219 (GRCm39) |
Q16R |
probably damaging |
Het |
Snap91 |
A |
G |
9: 86,686,577 (GRCm39) |
F354L |
probably damaging |
Het |
Steap2 |
A |
G |
5: 5,723,539 (GRCm39) |
I447T |
probably benign |
Het |
Tagap |
T |
A |
17: 8,147,602 (GRCm39) |
I104N |
probably damaging |
Het |
Tas1r2 |
A |
G |
4: 139,387,318 (GRCm39) |
D259G |
probably benign |
Het |
Tgm3 |
T |
C |
2: 129,886,452 (GRCm39) |
S558P |
probably benign |
Het |
Tuba3a |
A |
G |
6: 125,258,018 (GRCm39) |
V324A |
probably damaging |
Het |
Vmn1r238 |
T |
G |
18: 3,123,232 (GRCm39) |
I61L |
possibly damaging |
Het |
Vmn1r52 |
A |
G |
6: 90,156,451 (GRCm39) |
T252A |
probably benign |
Het |
Vmp1 |
A |
G |
11: 86,492,885 (GRCm39) |
V308A |
probably damaging |
Het |
Wdfy4 |
A |
C |
14: 32,874,611 (GRCm39) |
V159G |
|
Het |
Zfp180 |
A |
G |
7: 23,804,687 (GRCm39) |
T369A |
possibly damaging |
Het |
Zfp827 |
A |
G |
8: 79,755,316 (GRCm39) |
M1V |
probably null |
Het |
Zmym4 |
A |
G |
4: 126,787,198 (GRCm39) |
I1031T |
probably damaging |
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 |
R4235:Casp8
|
UTSW |
1 |
58,872,857 (GRCm39) |
missense |
possibly damaging |
0.89 |
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 |
R9279:Casp8
|
UTSW |
1 |
58,883,542 (GRCm39) |
missense |
probably benign |
0.20 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCTGTACAATCCGATTGG -3'
(R):5'- TTCCTTGGCAAGCCTGAATG -3'
Sequencing Primer
(F):5'- TGATGCAGAAGGACCGCTC -3'
(R):5'- TTCCTTGGCAAGCCTGAATGAAAAAG -3'
|
Posted On |
2021-03-08 |