Incidental Mutation 'R5858:Cflar'
ID |
454985 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cflar
|
Ensembl Gene |
ENSMUSG00000026031 |
Gene Name |
CASP8 and FADD-like apoptosis regulator |
Synonyms |
Cash, c-Flip, Flip, 2310024N18Rik, Casper, A430105C05Rik |
MMRRC Submission |
044070-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5858 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
58750667-58798043 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58793010 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 459
(S459P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109952
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069333]
[ENSMUST00000097722]
[ENSMUST00000114313]
|
AlphaFold |
O35732 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069333
AA Change: S459P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000065107 Gene: ENSMUSG00000026031 AA Change: S459P
Domain | Start | End | E-Value | Type |
DED
|
6 |
78 |
8.94e-22 |
SMART |
DED
|
96 |
175 |
4.33e-29 |
SMART |
CASc
|
245 |
480 |
6.05e-92 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000097722
AA Change: S462P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000095329 Gene: ENSMUSG00000026031 AA Change: S462P
Domain | Start | End | E-Value | Type |
DED
|
6 |
78 |
8.94e-22 |
SMART |
DED
|
96 |
175 |
4.33e-29 |
SMART |
CASc
|
248 |
483 |
6.05e-92 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114313
AA Change: S459P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000109952 Gene: ENSMUSG00000026031 AA Change: S459P
Domain | Start | End | E-Value | Type |
DED
|
6 |
78 |
8.94e-22 |
SMART |
DED
|
96 |
175 |
4.33e-29 |
SMART |
CASc
|
245 |
480 |
6.05e-92 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123032
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140940
|
Meta Mutation Damage Score |
0.0871 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.7%
|
Validation Efficiency |
100% (60/60) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a regulator of apoptosis and is structurally similar to caspase-8. However, the encoded protein lacks caspase activity and appears to be itself cleaved into two peptides by caspase-8. Several transcript variants encoding different isoforms have been found for this gene, and partial evidence for several more variants exists. [provided by RefSeq, Feb 2011] PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality by E10.5. Mutant embryos exhibit cardiac developmental abnormalities and pooling of blood in the head and abdominal regions. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310009B15Rik |
T |
A |
1: 138,781,343 (GRCm39) |
Q102L |
probably benign |
Het |
Ak9 |
G |
A |
10: 41,299,023 (GRCm39) |
V1575I |
unknown |
Het |
Alg14 |
G |
A |
3: 121,113,737 (GRCm39) |
|
probably benign |
Het |
Arl5a |
T |
C |
2: 52,302,118 (GRCm39) |
I99V |
probably benign |
Het |
Cacul1 |
T |
C |
19: 60,517,482 (GRCm39) |
|
probably benign |
Het |
Cc2d2a |
C |
T |
5: 43,873,117 (GRCm39) |
R934C |
probably damaging |
Het |
Ccr2 |
A |
G |
9: 123,906,464 (GRCm39) |
E248G |
probably benign |
Het |
Cds2 |
G |
T |
2: 132,144,033 (GRCm39) |
V287L |
probably benign |
Het |
Clcc1 |
A |
G |
3: 108,568,744 (GRCm39) |
D21G |
probably damaging |
Het |
Col8a2 |
C |
T |
4: 126,205,093 (GRCm39) |
|
probably benign |
Het |
Cops7a |
A |
T |
6: 124,937,134 (GRCm39) |
S186T |
possibly damaging |
Het |
Dagla |
C |
T |
19: 10,232,332 (GRCm39) |
|
probably benign |
Het |
Dapp1 |
T |
C |
3: 137,667,292 (GRCm39) |
Y49C |
possibly damaging |
Het |
Dnase1 |
T |
C |
16: 3,857,513 (GRCm39) |
|
probably benign |
Het |
Dock9 |
A |
G |
14: 121,866,204 (GRCm39) |
V633A |
probably benign |
Het |
E4f1 |
A |
G |
17: 24,664,302 (GRCm39) |
F461L |
probably damaging |
Het |
Epg5 |
T |
A |
18: 77,991,514 (GRCm39) |
C70* |
probably null |
Het |
Ephb2 |
T |
C |
4: 136,399,756 (GRCm39) |
H589R |
probably benign |
Het |
Fam184b |
A |
T |
5: 45,796,461 (GRCm39) |
C41S |
probably damaging |
Het |
Hace1 |
A |
G |
10: 45,587,621 (GRCm39) |
T907A |
possibly damaging |
Het |
Il31 |
T |
A |
5: 123,618,637 (GRCm39) |
T129S |
probably benign |
Het |
Il6 |
A |
T |
5: 30,218,472 (GRCm39) |
T23S |
possibly damaging |
Het |
Kif12 |
T |
C |
4: 63,084,647 (GRCm39) |
E557G |
probably benign |
Het |
Krt24 |
A |
T |
11: 99,175,591 (GRCm39) |
L148H |
probably damaging |
Het |
Mapk8ip1 |
A |
G |
2: 92,215,317 (GRCm39) |
F635S |
probably damaging |
Het |
Mcc |
A |
T |
18: 44,643,208 (GRCm39) |
V313E |
probably damaging |
Het |
Muc15 |
A |
G |
2: 110,562,143 (GRCm39) |
D193G |
probably damaging |
Het |
Nbea |
A |
G |
3: 55,860,455 (GRCm39) |
|
probably null |
Het |
Or12e10 |
A |
T |
2: 87,640,985 (GRCm39) |
I274F |
probably benign |
Het |
Or2ag1 |
T |
A |
7: 106,472,975 (GRCm39) |
Y159F |
probably benign |
Het |
Or2m13 |
A |
G |
16: 19,225,975 (GRCm39) |
S265P |
possibly damaging |
Het |
Or5b94 |
A |
G |
19: 12,651,743 (GRCm39) |
Y58C |
probably damaging |
Het |
P4ha1 |
A |
T |
10: 59,175,200 (GRCm39) |
L53F |
probably damaging |
Het |
Pcdha7 |
A |
G |
18: 37,109,279 (GRCm39) |
D768G |
probably damaging |
Het |
Pdzd2 |
T |
A |
15: 12,442,675 (GRCm39) |
D208V |
probably damaging |
Het |
Ptk2 |
A |
T |
15: 73,192,944 (GRCm39) |
I159K |
probably benign |
Het |
Rfx6 |
A |
G |
10: 51,601,964 (GRCm39) |
N761S |
probably benign |
Het |
Rpp25l |
A |
T |
4: 41,712,678 (GRCm39) |
D32E |
probably benign |
Het |
Rxrg |
A |
T |
1: 167,454,925 (GRCm39) |
K169N |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,575,460 (GRCm39) |
D4846G |
probably damaging |
Het |
Sec23a |
A |
G |
12: 59,019,821 (GRCm39) |
F553S |
probably damaging |
Het |
Spen |
T |
C |
4: 141,201,182 (GRCm39) |
I2482V |
probably benign |
Het |
Ston1 |
A |
G |
17: 88,943,059 (GRCm39) |
D155G |
possibly damaging |
Het |
Tha1 |
A |
G |
11: 117,764,210 (GRCm39) |
F6L |
unknown |
Het |
Trank1 |
T |
A |
9: 111,221,604 (GRCm39) |
D2780E |
probably benign |
Het |
Ubqln5 |
T |
C |
7: 103,778,018 (GRCm39) |
T269A |
probably benign |
Het |
Vars1 |
C |
T |
17: 35,224,451 (GRCm39) |
R324C |
probably benign |
Het |
Zfp287 |
T |
A |
11: 62,604,833 (GRCm39) |
Q691H |
probably damaging |
Het |
|
Other mutations in Cflar |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00516:Cflar
|
APN |
1 |
58,771,469 (GRCm39) |
missense |
probably benign |
0.42 |
IGL00959:Cflar
|
APN |
1 |
58,768,321 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02045:Cflar
|
APN |
1 |
58,791,903 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02200:Cflar
|
APN |
1 |
58,791,828 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02382:Cflar
|
APN |
1 |
58,791,840 (GRCm39) |
missense |
probably benign |
0.14 |
IGL03032:Cflar
|
APN |
1 |
58,780,179 (GRCm39) |
missense |
probably damaging |
1.00 |
Channel_islands
|
UTSW |
1 |
58,793,010 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02988:Cflar
|
UTSW |
1 |
58,780,190 (GRCm39) |
missense |
possibly damaging |
0.58 |
R1936:Cflar
|
UTSW |
1 |
58,791,784 (GRCm39) |
nonsense |
probably null |
|
R2259:Cflar
|
UTSW |
1 |
58,768,280 (GRCm39) |
missense |
probably benign |
0.16 |
R2269:Cflar
|
UTSW |
1 |
58,780,206 (GRCm39) |
critical splice donor site |
probably null |
|
R3816:Cflar
|
UTSW |
1 |
58,791,582 (GRCm39) |
missense |
probably benign |
0.24 |
R3824:Cflar
|
UTSW |
1 |
58,774,856 (GRCm39) |
missense |
probably benign |
0.00 |
R4232:Cflar
|
UTSW |
1 |
58,780,152 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4644:Cflar
|
UTSW |
1 |
58,770,426 (GRCm39) |
missense |
probably damaging |
1.00 |
R4749:Cflar
|
UTSW |
1 |
58,779,431 (GRCm39) |
missense |
possibly damaging |
0.62 |
R4765:Cflar
|
UTSW |
1 |
58,771,480 (GRCm39) |
missense |
probably damaging |
0.98 |
R4785:Cflar
|
UTSW |
1 |
58,791,726 (GRCm39) |
missense |
probably benign |
0.34 |
R5315:Cflar
|
UTSW |
1 |
58,792,961 (GRCm39) |
missense |
probably benign |
0.34 |
R5418:Cflar
|
UTSW |
1 |
58,791,810 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5509:Cflar
|
UTSW |
1 |
58,791,551 (GRCm39) |
missense |
probably benign |
0.02 |
R5899:Cflar
|
UTSW |
1 |
58,791,927 (GRCm39) |
missense |
probably benign |
0.36 |
R6048:Cflar
|
UTSW |
1 |
58,780,202 (GRCm39) |
missense |
probably benign |
0.02 |
R7065:Cflar
|
UTSW |
1 |
58,770,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R7144:Cflar
|
UTSW |
1 |
58,793,007 (GRCm39) |
missense |
|
|
R7206:Cflar
|
UTSW |
1 |
58,780,150 (GRCm39) |
missense |
|
|
R7384:Cflar
|
UTSW |
1 |
58,791,735 (GRCm39) |
missense |
|
|
R7453:Cflar
|
UTSW |
1 |
58,792,956 (GRCm39) |
missense |
|
|
R7467:Cflar
|
UTSW |
1 |
58,765,597 (GRCm39) |
start codon destroyed |
probably null |
|
R7694:Cflar
|
UTSW |
1 |
58,791,966 (GRCm39) |
missense |
|
|
R7808:Cflar
|
UTSW |
1 |
58,750,740 (GRCm39) |
start gained |
probably benign |
|
R7890:Cflar
|
UTSW |
1 |
58,791,915 (GRCm39) |
missense |
|
|
R8073:Cflar
|
UTSW |
1 |
58,791,981 (GRCm39) |
missense |
|
|
R9506:Cflar
|
UTSW |
1 |
58,791,975 (GRCm39) |
missense |
|
|
Z1176:Cflar
|
UTSW |
1 |
58,779,472 (GRCm39) |
critical splice donor site |
probably null |
|
Z1176:Cflar
|
UTSW |
1 |
58,770,388 (GRCm39) |
missense |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- GGCCAGAGTACTGCCAATTG -3'
(R):5'- TGTGCACAGGAGAACCCTAG -3'
Sequencing Primer
(F):5'- TTGCTAAGCAATGCACAGAGC -3'
(R):5'- CAGGAGAACCCTAGGCCAG -3'
|
Posted On |
2017-02-10 |