Incidental Mutation 'R7602:Casp8'
ID |
588036 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Casp8
|
Ensembl Gene |
ENSMUSG00000026029 |
Gene Name |
caspase 8 |
Synonyms |
MACH, Caspase-8, Mch5, FLICE |
MMRRC Submission |
045674-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7602 (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 C
at 58872898 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Threonine
at position 258
(K258T)
|
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: K258T
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000027189 Gene: ENSMUSG00000026029 AA Change: K258T
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: K258T
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000127375 Gene: ENSMUSG00000026029 AA Change: K258T
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: K278T
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000140335 Gene: ENSMUSG00000026029 AA Change: K278T
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: K278T
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000140546 Gene: ENSMUSG00000026029 AA Change: K278T
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 |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (58/58) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700025G04Rik |
A |
T |
1: 151,856,266 (GRCm39) |
Y34N |
probably damaging |
Het |
A2m |
T |
C |
6: 121,618,966 (GRCm39) |
V237A |
probably damaging |
Het |
A2m |
A |
T |
6: 121,647,895 (GRCm39) |
D1129V |
possibly damaging |
Het |
Aadacl2fm3 |
T |
C |
3: 59,784,697 (GRCm39) |
I390T |
probably benign |
Het |
Abca7 |
A |
G |
10: 79,833,846 (GRCm39) |
|
probably null |
Het |
Adam34l |
C |
T |
8: 44,079,703 (GRCm39) |
G174R |
probably damaging |
Het |
Ap3m2 |
T |
C |
8: 23,282,770 (GRCm39) |
N256S |
probably benign |
Het |
Atr |
C |
T |
9: 95,789,436 (GRCm39) |
H1531Y |
possibly damaging |
Het |
Carmil3 |
C |
T |
14: 55,738,965 (GRCm39) |
A873V |
probably null |
Het |
Cast |
A |
G |
13: 74,885,084 (GRCm39) |
S222P |
probably benign |
Het |
Cpsf7 |
C |
T |
19: 10,512,737 (GRCm39) |
P274S |
probably damaging |
Het |
Ddx24 |
A |
T |
12: 103,382,519 (GRCm39) |
L688* |
probably null |
Het |
Ddx59 |
A |
G |
1: 136,361,559 (GRCm39) |
I475V |
probably benign |
Het |
Dhx29 |
T |
A |
13: 113,081,093 (GRCm39) |
S376T |
possibly damaging |
Het |
Dhx57 |
G |
T |
17: 80,582,290 (GRCm39) |
N438K |
probably benign |
Het |
Dlk1 |
T |
A |
12: 109,421,551 (GRCm39) |
|
probably null |
Het |
Efcab15 |
T |
C |
11: 103,091,004 (GRCm39) |
M114V |
probably benign |
Het |
Epha6 |
T |
C |
16: 59,595,931 (GRCm39) |
D920G |
probably damaging |
Het |
Exo5 |
A |
T |
4: 120,778,818 (GRCm39) |
V349E |
probably benign |
Het |
Fam234b |
T |
C |
6: 135,202,241 (GRCm39) |
V321A |
possibly damaging |
Het |
Gbp3 |
A |
G |
3: 142,274,822 (GRCm39) |
E383G |
probably benign |
Het |
Gga2 |
T |
C |
7: 121,596,553 (GRCm39) |
N408S |
probably benign |
Het |
Gse1 |
T |
C |
8: 121,296,043 (GRCm39) |
V532A |
unknown |
Het |
Hnrnpul2 |
T |
C |
19: 8,808,673 (GRCm39) |
Y712H |
probably damaging |
Het |
Hpca |
T |
C |
4: 129,014,019 (GRCm39) |
|
probably benign |
Het |
Ifitm3 |
A |
G |
7: 140,590,372 (GRCm39) |
F63L |
probably damaging |
Het |
Inava |
G |
T |
1: 136,153,135 (GRCm39) |
C252* |
probably null |
Het |
Kank1 |
A |
T |
19: 25,399,525 (GRCm39) |
T940S |
probably benign |
Het |
Klhl9 |
C |
A |
4: 88,640,646 (GRCm39) |
|
probably benign |
Het |
Krt36 |
T |
C |
11: 99,993,786 (GRCm39) |
M351V |
probably benign |
Het |
Mthfd2 |
T |
C |
6: 83,288,830 (GRCm39) |
N125D |
probably benign |
Het |
Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
Ncoa2 |
A |
G |
1: 13,247,350 (GRCm39) |
S358P |
possibly damaging |
Het |
Nmnat1 |
T |
C |
4: 149,557,808 (GRCm39) |
H78R |
probably benign |
Het |
Or10s1 |
T |
G |
9: 39,986,455 (GRCm39) |
L288R |
probably damaging |
Het |
Or5k1 |
T |
C |
16: 58,617,343 (GRCm39) |
I289V |
possibly damaging |
Het |
Or5m13b |
A |
T |
2: 85,754,146 (GRCm39) |
Y178F |
probably damaging |
Het |
Or9r3 |
A |
G |
10: 129,948,179 (GRCm39) |
M160T |
probably benign |
Het |
Pabpc4 |
A |
T |
4: 123,186,685 (GRCm39) |
D302V |
possibly damaging |
Het |
Pgap1 |
A |
T |
1: 54,582,345 (GRCm39) |
S167R |
probably damaging |
Het |
Phf12 |
T |
C |
11: 77,914,109 (GRCm39) |
L517P |
probably benign |
Het |
Rcan2 |
A |
G |
17: 44,328,689 (GRCm39) |
D86G |
probably benign |
Het |
Ryk |
T |
C |
9: 102,775,715 (GRCm39) |
Y442H |
probably damaging |
Het |
Scfd2 |
G |
T |
5: 74,623,271 (GRCm39) |
Q421K |
probably benign |
Het |
Sirpa |
G |
T |
2: 129,451,072 (GRCm39) |
V111F |
probably damaging |
Het |
Skint4 |
A |
T |
4: 111,975,468 (GRCm39) |
T143S |
possibly damaging |
Het |
Slc12a8 |
C |
A |
16: 33,445,494 (GRCm39) |
H463N |
probably benign |
Het |
Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
Sptlc2 |
A |
G |
12: 87,388,463 (GRCm39) |
Y340H |
probably damaging |
Het |
Ssc5d |
T |
A |
7: 4,945,745 (GRCm39) |
W926R |
possibly damaging |
Het |
Tgfa |
A |
G |
6: 86,246,944 (GRCm39) |
E82G |
probably damaging |
Het |
Thrsp |
A |
G |
7: 97,066,514 (GRCm39) |
I66T |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,681,988 (GRCm39) |
E1003G |
unknown |
Het |
Tube1 |
A |
T |
10: 39,018,262 (GRCm39) |
H113L |
probably benign |
Het |
Uri1 |
A |
G |
7: 37,681,053 (GRCm39) |
V117A |
probably benign |
Het |
Ush2a |
G |
A |
1: 188,380,606 (GRCm39) |
C2305Y |
probably damaging |
Het |
Zbtb7a |
T |
G |
10: 80,980,010 (GRCm39) |
V68G |
probably damaging |
Het |
Zfr |
T |
A |
15: 12,159,763 (GRCm39) |
D686E |
possibly damaging |
Het |
Zscan4f |
G |
A |
7: 11,135,308 (GRCm39) |
S238N |
possibly 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 |
|
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'- TCTTCCTGAGCACTTGGACATAG -3'
(R):5'- CCAGTATAGGGTAATGCCAGGG -3'
Sequencing Primer
(F):5'- ACTTGGACATAGCCAGTGTC -3'
(R):5'- GGATTTTCTGGATAGCATTTGAAATG -3'
|
Posted On |
2019-10-24 |