Incidental Mutation 'R5063:Casp8'
| ID |
386724 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Casp8
|
| Ensembl Gene |
ENSMUSG00000026029 |
| Gene Name |
caspase 8 |
| Synonyms |
MACH, Caspase-8, Mch5, FLICE |
| MMRRC Submission |
042653-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5063 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
58834533-58886662 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58883533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 280
(H280L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127375
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027189]
[ENSMUST00000165549]
[ENSMUST00000190213]
[ENSMUST00000191201]
|
| AlphaFold |
O89110 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027189
AA Change: H280L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027189
Gene: ENSMUSG00000026029
AA Change: H280L
| 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: ENSMUST00000165549
AA Change: H280L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127375
Gene: ENSMUSG00000026029
AA Change: H280L
| 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: H300L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140335
Gene: ENSMUSG00000026029
AA Change: H300L
| 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: H300L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140546
Gene: ENSMUSG00000026029
AA Change: H300L
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| 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 |
|---|
| Aatk |
T |
C |
11: 119,901,315 (GRCm39) |
H970R |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,471,469 (GRCm39) |
M1496V |
possibly damaging |
Het |
| Arhgef4 |
A |
T |
1: 34,763,296 (GRCm39) |
T851S |
probably benign |
Het |
| Armh3 |
A |
G |
19: 45,874,394 (GRCm39) |
I593T |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 29,773,340 (GRCm39) |
S1782P |
probably benign |
Het |
| Capn13 |
T |
A |
17: 73,629,074 (GRCm39) |
R578* |
probably null |
Het |
| Cd274 |
G |
T |
19: 29,361,543 (GRCm39) |
D284Y |
probably damaging |
Het |
| Cenpe |
T |
A |
3: 134,976,715 (GRCm39) |
C2441S |
probably damaging |
Het |
| Chn2 |
A |
T |
6: 54,267,272 (GRCm39) |
K118* |
probably null |
Het |
| Chst12 |
G |
T |
5: 140,510,167 (GRCm39) |
E265* |
probably null |
Het |
| Cp |
C |
A |
3: 20,043,379 (GRCm39) |
Q22K |
probably benign |
Het |
| Diaph3 |
A |
T |
14: 87,222,306 (GRCm39) |
W404R |
probably damaging |
Het |
| Dnajb13 |
T |
G |
7: 100,160,030 (GRCm39) |
E69A |
probably damaging |
Het |
| Dzip1l |
A |
G |
9: 99,549,705 (GRCm39) |
E725G |
probably damaging |
Het |
| Dzip3 |
T |
A |
16: 48,774,117 (GRCm39) |
K373* |
probably null |
Het |
| Fmn1 |
C |
T |
2: 113,195,266 (GRCm39) |
T322I |
unknown |
Het |
| Gbp9 |
T |
C |
5: 105,233,028 (GRCm39) |
Y208C |
probably benign |
Het |
| Gtf2i |
T |
A |
5: 134,289,425 (GRCm39) |
K418N |
probably damaging |
Het |
| Herc3 |
C |
T |
6: 58,832,745 (GRCm39) |
Q137* |
probably null |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Iqcm |
A |
T |
8: 76,472,914 (GRCm39) |
D251V |
probably damaging |
Het |
| Itpr3 |
A |
T |
17: 27,308,885 (GRCm39) |
I363F |
possibly damaging |
Het |
| Khnyn |
A |
T |
14: 56,124,660 (GRCm39) |
K305* |
probably null |
Het |
| Klf17 |
A |
G |
4: 117,617,856 (GRCm39) |
V167A |
possibly damaging |
Het |
| Letm2 |
T |
C |
8: 26,071,795 (GRCm39) |
D369G |
probably benign |
Het |
| Lrrc31 |
A |
G |
3: 30,744,085 (GRCm39) |
V141A |
possibly damaging |
Het |
| Msh5 |
A |
T |
17: 35,261,164 (GRCm39) |
|
probably null |
Het |
| Neb |
G |
A |
2: 52,113,224 (GRCm39) |
|
probably benign |
Het |
| Or10j5 |
T |
A |
1: 172,785,009 (GRCm39) |
S216T |
possibly damaging |
Het |
| Or2t6 |
A |
T |
14: 14,175,593 (GRCm38) |
M163K |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Padi6 |
T |
C |
4: 140,469,191 (GRCm39) |
I50V |
probably benign |
Het |
| Pcdhb22 |
G |
T |
18: 37,652,179 (GRCm39) |
G216C |
probably damaging |
Het |
| Ppy |
A |
G |
11: 101,991,525 (GRCm39) |
Y5H |
probably benign |
Het |
| Psmc1 |
T |
C |
12: 100,081,734 (GRCm39) |
L112S |
probably damaging |
Het |
| Ptov1 |
A |
G |
7: 44,515,026 (GRCm39) |
I195T |
possibly damaging |
Het |
| Rassf10 |
C |
A |
7: 112,553,631 (GRCm39) |
D77E |
probably benign |
Het |
| Slc25a45 |
T |
C |
19: 5,934,490 (GRCm39) |
S153P |
possibly damaging |
Het |
| Slco1a5 |
G |
A |
6: 142,204,791 (GRCm39) |
R126C |
probably damaging |
Het |
| Srebf2 |
T |
C |
15: 82,061,652 (GRCm39) |
V366A |
probably benign |
Het |
| St6galnac5 |
T |
C |
3: 152,686,772 (GRCm39) |
S61G |
probably benign |
Het |
| Sult6b1 |
A |
T |
17: 79,213,005 (GRCm39) |
V82D |
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,088,084 (GRCm39) |
C818S |
possibly damaging |
Het |
| Tex15 |
T |
G |
8: 34,072,638 (GRCm39) |
F2728L |
possibly damaging |
Het |
| Tm9sf2 |
T |
A |
14: 122,382,558 (GRCm39) |
F190Y |
probably damaging |
Het |
| Tmem175 |
T |
C |
5: 108,794,298 (GRCm39) |
L476P |
probably damaging |
Het |
| Tmprss11c |
T |
C |
5: 86,385,689 (GRCm39) |
K248R |
probably benign |
Het |
| Tnk2 |
T |
A |
16: 32,489,668 (GRCm39) |
F316I |
probably damaging |
Het |
| Vmn2r75 |
T |
A |
7: 85,813,372 (GRCm39) |
M477L |
probably benign |
Het |
| Vmn2r83 |
A |
C |
10: 79,314,921 (GRCm39) |
I390L |
probably benign |
Het |
| Vmn2r88 |
A |
G |
14: 51,648,603 (GRCm39) |
Y49C |
probably damaging |
Het |
| Zdhhc4 |
T |
A |
5: 143,302,377 (GRCm39) |
I318F |
probably damaging |
Het |
| Zmat4 |
A |
T |
8: 24,238,457 (GRCm39) |
D27V |
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 |
|
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'- AGTTCCAGCTGGCAGTACAC -3'
(R):5'- AGGGCACTTTGAACCAGTG -3'
Sequencing Primer
(F):5'- TGGCAGTACACAGCACTTTCAG -3'
(R):5'- CACTTTGAACCAGTGAAGTAAGATG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation