Incidental Mutation 'R8714:Casp8'
ID |
669744 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Casp8
|
Ensembl Gene |
ENSMUSG00000026029 |
Gene Name |
caspase 8 |
Synonyms |
MACH, Caspase-8, Mch5, FLICE |
MMRRC Submission |
068568-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8714 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
58834533-58886662 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 58872812 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Histidine
at position 229
(Q229H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027189
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027189]
[ENSMUST00000165549]
[ENSMUST00000190213]
[ENSMUST00000191201]
|
AlphaFold |
O89110 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027189
AA Change: Q229H
PolyPhen 2
Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000027189 Gene: ENSMUSG00000026029 AA Change: Q229H
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: Q229H
PolyPhen 2
Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000127375 Gene: ENSMUSG00000026029 AA Change: Q229H
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 damaging
Transcript: ENSMUST00000190213
AA Change: Q249H
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140335 Gene: ENSMUSG00000026029 AA Change: Q249H
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 damaging
Transcript: ENSMUST00000191201
AA Change: Q249H
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140546 Gene: ENSMUSG00000026029 AA Change: Q249H
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: 98.7%
|
Validation Efficiency |
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
C |
T |
4: 103,100,093 (GRCm39) |
A137T |
probably benign |
Het |
4930474N05Rik |
T |
A |
14: 35,818,456 (GRCm39) |
C151* |
probably null |
Het |
Abca4 |
A |
G |
3: 121,942,528 (GRCm39) |
T1674A |
probably benign |
Het |
Acat3 |
A |
T |
17: 13,147,516 (GRCm39) |
V167E |
probably benign |
Het |
Alb |
T |
C |
5: 90,608,874 (GRCm39) |
|
probably null |
Het |
Apol9a |
T |
C |
15: 77,288,942 (GRCm39) |
T142A |
probably benign |
Het |
Asb14 |
C |
T |
14: 26,623,032 (GRCm39) |
P135S |
possibly damaging |
Het |
Asb17 |
A |
G |
3: 153,556,313 (GRCm39) |
Y140C |
probably damaging |
Het |
Atp4a |
T |
A |
7: 30,420,013 (GRCm39) |
I750N |
probably damaging |
Het |
Bard1 |
T |
C |
1: 71,069,986 (GRCm39) |
Y664C |
probably damaging |
Het |
Cacnb3 |
G |
A |
15: 98,530,262 (GRCm39) |
|
probably benign |
Het |
Card11 |
T |
A |
5: 140,899,147 (GRCm39) |
D9V |
possibly damaging |
Het |
Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
Cd209d |
CAT |
C |
8: 3,923,772 (GRCm39) |
|
probably null |
Het |
Cep350 |
T |
C |
1: 155,736,477 (GRCm39) |
D2853G |
probably damaging |
Het |
Cfap161 |
T |
C |
7: 83,442,482 (GRCm39) |
I110M |
probably benign |
Het |
Chid1 |
T |
A |
7: 141,093,678 (GRCm39) |
K313* |
probably null |
Het |
Col16a1 |
T |
A |
4: 129,947,961 (GRCm39) |
I227N |
unknown |
Het |
D3Ertd751e |
G |
T |
3: 41,700,998 (GRCm39) |
E6* |
probably null |
Het |
Ddx41 |
T |
C |
13: 55,682,250 (GRCm39) |
Q208R |
probably damaging |
Het |
Dhrs13 |
G |
C |
11: 77,923,492 (GRCm39) |
R70P |
possibly damaging |
Het |
Dmrta1 |
A |
T |
4: 89,579,682 (GRCm39) |
Q214L |
probably benign |
Het |
Eif2ak4 |
T |
C |
2: 118,292,765 (GRCm39) |
F1330L |
possibly damaging |
Het |
Fbxw13 |
C |
T |
9: 109,023,832 (GRCm39) |
V71I |
probably benign |
Het |
H2-Q2 |
T |
C |
17: 35,562,338 (GRCm39) |
L195P |
possibly damaging |
Het |
Hemgn |
C |
T |
4: 46,395,904 (GRCm39) |
G444D |
probably damaging |
Het |
Lmtk2 |
A |
G |
5: 144,112,876 (GRCm39) |
T1199A |
probably damaging |
Het |
Ly75 |
T |
C |
2: 60,164,829 (GRCm39) |
D783G |
probably damaging |
Het |
Micall1 |
G |
A |
15: 79,011,510 (GRCm39) |
A627T |
probably benign |
Het |
Morc2a |
C |
T |
11: 3,625,877 (GRCm39) |
T159I |
probably benign |
Het |
Mthfr |
C |
A |
4: 148,126,275 (GRCm39) |
N115K |
probably damaging |
Het |
Muc1 |
G |
A |
3: 89,138,821 (GRCm39) |
V477M |
possibly damaging |
Het |
Mug1 |
C |
T |
6: 121,859,681 (GRCm39) |
P1227S |
probably benign |
Het |
Ogfod3 |
T |
A |
11: 121,087,608 (GRCm39) |
D163V |
possibly damaging |
Het |
Or51a43 |
T |
A |
7: 103,717,483 (GRCm39) |
I252F |
probably damaging |
Het |
Pcnx2 |
C |
T |
8: 126,500,546 (GRCm39) |
V1515I |
probably benign |
Het |
Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
Plscr3 |
G |
T |
11: 69,738,838 (GRCm39) |
G167C |
probably benign |
Het |
Plxna4 |
T |
A |
6: 32,140,379 (GRCm39) |
K1670* |
probably null |
Het |
Prb1c |
G |
A |
6: 132,341,051 (GRCm39) |
T7I |
unknown |
Het |
Rab7 |
T |
C |
6: 87,989,369 (GRCm39) |
S34G |
probably damaging |
Het |
Rnf157 |
C |
A |
11: 116,237,891 (GRCm39) |
A577S |
probably benign |
Het |
Rnf213 |
C |
T |
11: 119,359,720 (GRCm39) |
S4371L |
|
Het |
S1pr1 |
A |
T |
3: 115,505,470 (GRCm39) |
S375T |
probably benign |
Het |
Spen |
T |
C |
4: 141,215,314 (GRCm39) |
N506S |
unknown |
Het |
Sulf1 |
T |
A |
1: 12,878,141 (GRCm39) |
Y210N |
probably benign |
Het |
Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
Tg |
A |
G |
15: 66,555,891 (GRCm39) |
N861S |
probably damaging |
Het |
Ttc29 |
A |
G |
8: 79,060,331 (GRCm39) |
E417G |
possibly damaging |
Het |
Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
Ubxn7 |
T |
A |
16: 32,186,229 (GRCm39) |
|
probably benign |
Het |
Vmn1r62 |
C |
A |
7: 5,678,629 (GRCm39) |
Y103* |
probably null |
Het |
Zfp804b |
A |
T |
5: 6,822,378 (GRCm39) |
Y228* |
probably null |
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 |
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'- ATTCAGCAGGTCCAGGCCTA -3'
(R):5'- AAGTATAACTACTGCTCTCTCCTTT -3'
Sequencing Primer
(F):5'- AGGCCTACTGACCATGCAG -3'
(R):5'- CTCCTTTTTGGTTAAAGAAAGGTCC -3'
|
Posted On |
2021-04-30 |