Incidental Mutation 'R7675:Casp8'
| ID |
592405 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Casp8
|
| Ensembl Gene |
ENSMUSG00000026029 |
| Gene Name |
caspase 8 |
| Synonyms |
MACH, Caspase-8, Mch5, FLICE |
| MMRRC Submission |
045706-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7675 (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 58863106 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 2
(D2G)
|
| 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: D2G
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000027189
Gene: ENSMUSG00000026029
AA Change: D2G
| 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: D2G
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127375
Gene: ENSMUSG00000026029
AA Change: D2G
| 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: D22G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140335
Gene: ENSMUSG00000026029
AA Change: D22G
| 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: D22G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140546
Gene: ENSMUSG00000026029
AA Change: D22G
| 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 |
0.1973 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
97% (28/29) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010109A12Rik |
T |
C |
5: 93,361,233 (GRCm39) |
S96P |
unknown |
Het |
| Acaca |
A |
G |
11: 84,206,742 (GRCm39) |
E1534G |
probably benign |
Het |
| Adam7 |
A |
T |
14: 68,737,302 (GRCm39) |
D773E |
probably benign |
Het |
| Cacna1s |
T |
A |
1: 136,038,612 (GRCm39) |
I1398N |
probably damaging |
Het |
| Calu |
C |
T |
6: 29,356,516 (GRCm39) |
T14I |
probably benign |
Het |
| Cldn1 |
T |
C |
16: 26,190,261 (GRCm39) |
N39S |
probably benign |
Het |
| Clspn |
T |
C |
4: 126,460,113 (GRCm39) |
S447P |
probably benign |
Het |
| Eef2k |
A |
G |
7: 120,457,727 (GRCm39) |
T29A |
probably benign |
Het |
| Gm5519 |
G |
C |
19: 33,802,428 (GRCm39) |
G157A |
probably benign |
Het |
| Gucy2c |
A |
G |
6: 136,693,030 (GRCm39) |
V723A |
possibly damaging |
Het |
| Ighv1-69 |
A |
T |
12: 115,587,209 (GRCm39) |
W3R |
probably damaging |
Het |
| Inava |
G |
T |
1: 136,143,741 (GRCm39) |
A565E |
probably benign |
Het |
| Krtap16-1 |
A |
G |
11: 99,876,259 (GRCm39) |
C382R |
possibly damaging |
Het |
| Lrrc8a |
G |
A |
2: 30,145,680 (GRCm39) |
D165N |
probably damaging |
Het |
| Mideas |
G |
T |
12: 84,220,574 (GRCm39) |
P127T |
probably damaging |
Het |
| Naaladl2 |
T |
A |
3: 24,605,816 (GRCm39) |
M148L |
probably benign |
Het |
| Nphp3 |
A |
T |
9: 103,893,287 (GRCm39) |
E424D |
probably benign |
Het |
| Prpf40a |
T |
C |
2: 53,035,648 (GRCm39) |
K714R |
possibly damaging |
Het |
| Ptpn23 |
A |
T |
9: 110,216,094 (GRCm39) |
L1254* |
probably null |
Het |
| Sap30l |
A |
G |
11: 57,700,867 (GRCm39) |
K174E |
probably damaging |
Het |
| Serpinb9d |
C |
T |
13: 33,386,759 (GRCm39) |
Q276* |
probably null |
Het |
| Sp140l2 |
C |
T |
1: 85,224,736 (GRCm39) |
M266I |
probably benign |
Het |
| Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
| Tex14 |
A |
G |
11: 87,400,504 (GRCm39) |
D432G |
probably damaging |
Het |
| Tmsb10b |
A |
T |
7: 24,561,784 (GRCm39) |
T28S |
probably benign |
Het |
| Unc119 |
G |
A |
11: 78,234,423 (GRCm39) |
G11R |
probably damaging |
Het |
| Usp36 |
A |
G |
11: 118,154,522 (GRCm39) |
V965A |
probably benign |
Het |
| Vmn2r4 |
A |
T |
3: 64,322,657 (GRCm39) |
Y21N |
probably benign |
Het |
| Zbtb38 |
G |
T |
9: 96,567,594 (GRCm39) |
D1163E |
probably benign |
Het |
| Zfp62 |
A |
G |
11: 49,106,847 (GRCm39) |
I313V |
possibly damaging |
Het |
| Zfp980 |
C |
T |
4: 145,428,164 (GRCm39) |
Q298* |
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 |
|
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'- CTTCCGAGAATCAGGAACTTCC -3'
(R):5'- GTGGAAAAGCAGCTCTTTCAG -3'
Sequencing Primer
(F):5'- GGAACTTCCTGTTTTGTTTCCTG -3'
(R):5'- TTCAGGAAAGACAGATTGCCTTCCTC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation