Incidental Mutation 'R4232:Cflar'
| ID |
320887 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cflar
|
| Ensembl Gene |
ENSMUSG00000026031 |
| Gene Name |
CASP8 and FADD-like apoptosis regulator |
| Synonyms |
Flip, 2310024N18Rik, A430105C05Rik, Cash, Casper, c-Flip |
| MMRRC Submission |
041051-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4232 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
58711508-58758884 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58740993 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 249
(Q249L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109952
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069333]
[ENSMUST00000097722]
[ENSMUST00000114313]
|
| AlphaFold |
O35732 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069333
AA Change: Q249L
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000065107
Gene: ENSMUSG00000026031
AA Change: Q249L
| 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 |
possibly damaging
Transcript: ENSMUST00000097722
AA Change: Q252L
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000095329
Gene: ENSMUSG00000026031
AA Change: Q252L
| 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 |
possibly damaging
Transcript: ENSMUST00000114313
AA Change: Q249L
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109952
Gene: ENSMUSG00000026031
AA Change: Q249L
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
92% (58/63) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
C |
T |
X: 70,394,529 (GRCm38) |
A53T |
probably benign |
Het |
| Ajuba |
T |
C |
14: 54,569,526 (GRCm38) |
R490G |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 53,139,671 (GRCm38) |
N1289K |
probably damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,887,137 (GRCm38) |
V161A |
probably damaging |
Het |
| Atg14 |
T |
C |
14: 47,551,345 (GRCm38) |
K184E |
probably benign |
Het |
| Aven |
A |
G |
2: 112,627,768 (GRCm38) |
D167G |
probably damaging |
Het |
| Celsr2 |
A |
G |
3: 108,413,772 (GRCm38) |
F575L |
probably benign |
Het |
| Col7a1 |
G |
A |
9: 108,972,813 (GRCm38) |
|
probably null |
Het |
| Dmxl2 |
T |
C |
9: 54,419,909 (GRCm38) |
D944G |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 31,304,916 (GRCm38) |
N717S |
probably benign |
Het |
| Dnaja3 |
T |
A |
16: 4,699,871 (GRCm38) |
N322K |
possibly damaging |
Het |
| Dnajb3 |
A |
G |
1: 88,205,252 (GRCm38) |
S143P |
possibly damaging |
Het |
| Dtx3 |
A |
G |
10: 127,193,189 (GRCm38) |
I60T |
possibly damaging |
Het |
| Dvl3 |
A |
G |
16: 20,524,233 (GRCm38) |
|
probably benign |
Het |
| Fam71b |
C |
A |
11: 46,407,405 (GRCm38) |
T512K |
possibly damaging |
Het |
| Fkbp7 |
A |
T |
2: 76,663,317 (GRCm38) |
D177E |
possibly damaging |
Het |
| Galnt7 |
T |
C |
8: 57,652,966 (GRCm38) |
I5V |
probably benign |
Het |
| Helz2 |
A |
T |
2: 181,229,902 (GRCm38) |
L2639Q |
probably damaging |
Het |
| Hnrnpr |
T |
C |
4: 136,339,189 (GRCm38) |
M394T |
probably benign |
Het |
| Ip6k2 |
G |
A |
9: 108,805,648 (GRCm38) |
R319Q |
probably benign |
Het |
| Kif14 |
T |
A |
1: 136,516,363 (GRCm38) |
C1364* |
probably null |
Het |
| Macf1 |
T |
C |
4: 123,432,392 (GRCm38) |
E5104G |
probably damaging |
Het |
| Mkl1 |
T |
A |
15: 81,023,595 (GRCm38) |
K29M |
probably damaging |
Het |
| Mrps30 |
T |
C |
13: 118,386,840 (GRCm38) |
D132G |
probably damaging |
Het |
| Mtbp |
CATGA |
CATGAATGA |
15: 55,620,677 (GRCm38) |
|
probably null |
Het |
| Nfkb1 |
A |
G |
3: 135,603,770 (GRCm38) |
V521A |
probably damaging |
Het |
| Olfr1535 |
T |
C |
13: 21,555,461 (GRCm38) |
D187G |
probably damaging |
Het |
| Olfr850 |
G |
T |
9: 19,477,726 (GRCm38) |
L175M |
probably damaging |
Het |
| P2rx6 |
T |
C |
16: 17,570,767 (GRCm38) |
L335P |
probably damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,695,948 (GRCm38) |
D483G |
possibly damaging |
Het |
| Pgpep1l |
T |
C |
7: 68,237,079 (GRCm38) |
T161A |
probably benign |
Het |
| Prss40 |
A |
G |
1: 34,560,792 (GRCm38) |
V38A |
probably benign |
Het |
| Ptk2 |
C |
A |
15: 73,309,849 (GRCm38) |
R104L |
possibly damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,640,644 (GRCm38) |
R2019Q |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,860,446 (GRCm38) |
T354I |
probably benign |
Het |
| Rtp4 |
A |
G |
16: 23,613,083 (GRCm38) |
N122D |
possibly damaging |
Het |
| Samd8 |
A |
G |
14: 21,780,145 (GRCm38) |
Y213C |
probably benign |
Het |
| Shcbp1 |
T |
A |
8: 4,736,372 (GRCm38) |
T577S |
probably benign |
Het |
| Tiprl |
A |
G |
1: 165,222,587 (GRCm38) |
V153A |
probably damaging |
Het |
| Tmprss7 |
A |
T |
16: 45,656,573 (GRCm38) |
D775E |
probably damaging |
Het |
| Tnr |
T |
C |
1: 159,886,215 (GRCm38) |
S738P |
possibly damaging |
Het |
| Tsc22d4 |
T |
C |
5: 137,751,370 (GRCm38) |
|
probably null |
Het |
| Ttc21a |
A |
T |
9: 119,942,618 (GRCm38) |
H161L |
probably benign |
Het |
| Ubqln3 |
T |
A |
7: 104,141,803 (GRCm38) |
E360V |
probably benign |
Het |
| Ugt1a10 |
C |
A |
1: 88,056,210 (GRCm38) |
D243E |
probably benign |
Het |
| Vmn2r19 |
G |
A |
6: 123,329,912 (GRCm38) |
V460I |
probably benign |
Het |
| Vmn2r58 |
T |
A |
7: 41,837,587 (GRCm38) |
Y628F |
possibly damaging |
Het |
| Wnk1 |
A |
T |
6: 119,949,261 (GRCm38) |
S1588T |
possibly damaging |
Het |
| Wscd2 |
A |
G |
5: 113,560,984 (GRCm38) |
D200G |
probably benign |
Het |
| Zfp831 |
G |
C |
2: 174,705,654 (GRCm38) |
W1543C |
possibly damaging |
Het |
|
| Other mutations in Cflar |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00516:Cflar
|
APN |
1 |
58,732,310 (GRCm38) |
missense |
probably benign |
0.42 |
|
IGL00959:Cflar
|
APN |
1 |
58,729,162 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02045:Cflar
|
APN |
1 |
58,752,744 (GRCm38) |
missense |
probably benign |
0.25 |
|
IGL02200:Cflar
|
APN |
1 |
58,752,669 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02382:Cflar
|
APN |
1 |
58,752,681 (GRCm38) |
missense |
probably benign |
0.14 |
|
IGL03032:Cflar
|
APN |
1 |
58,741,020 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Channel_islands
|
UTSW |
1 |
58,753,851 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02988:Cflar
|
UTSW |
1 |
58,741,031 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R1936:Cflar
|
UTSW |
1 |
58,752,625 (GRCm38) |
nonsense |
probably null |
|
|
R2259:Cflar
|
UTSW |
1 |
58,729,121 (GRCm38) |
missense |
probably benign |
0.16 |
|
R2269:Cflar
|
UTSW |
1 |
58,741,047 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3816:Cflar
|
UTSW |
1 |
58,752,423 (GRCm38) |
missense |
probably benign |
0.24 |
|
R3824:Cflar
|
UTSW |
1 |
58,735,697 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4644:Cflar
|
UTSW |
1 |
58,731,267 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4749:Cflar
|
UTSW |
1 |
58,740,272 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R4765:Cflar
|
UTSW |
1 |
58,732,321 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4785:Cflar
|
UTSW |
1 |
58,752,567 (GRCm38) |
missense |
probably benign |
0.34 |
|
R5315:Cflar
|
UTSW |
1 |
58,753,802 (GRCm38) |
missense |
probably benign |
0.34 |
|
R5418:Cflar
|
UTSW |
1 |
58,752,651 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R5509:Cflar
|
UTSW |
1 |
58,752,392 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5858:Cflar
|
UTSW |
1 |
58,753,851 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5899:Cflar
|
UTSW |
1 |
58,752,768 (GRCm38) |
missense |
probably benign |
0.36 |
|
R6048:Cflar
|
UTSW |
1 |
58,741,043 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7065:Cflar
|
UTSW |
1 |
58,731,209 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7144:Cflar
|
UTSW |
1 |
58,753,848 (GRCm38) |
missense |
|
|
|
R7206:Cflar
|
UTSW |
1 |
58,740,991 (GRCm38) |
missense |
|
|
|
R7384:Cflar
|
UTSW |
1 |
58,752,576 (GRCm38) |
missense |
|
|
|
R7453:Cflar
|
UTSW |
1 |
58,753,797 (GRCm38) |
missense |
|
|
|
R7467:Cflar
|
UTSW |
1 |
58,726,438 (GRCm38) |
start codon destroyed |
probably null |
|
|
R7694:Cflar
|
UTSW |
1 |
58,752,807 (GRCm38) |
missense |
|
|
|
R7808:Cflar
|
UTSW |
1 |
58,711,581 (GRCm38) |
start gained |
probably benign |
|
|
R7890:Cflar
|
UTSW |
1 |
58,752,756 (GRCm38) |
missense |
|
|
|
R8073:Cflar
|
UTSW |
1 |
58,752,822 (GRCm38) |
missense |
|
|
|
R9506:Cflar
|
UTSW |
1 |
58,752,816 (GRCm38) |
missense |
|
|
|
Z1176:Cflar
|
UTSW |
1 |
58,740,313 (GRCm38) |
critical splice donor site |
probably null |
|
|
Z1176:Cflar
|
UTSW |
1 |
58,731,229 (GRCm38) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAACTGTCAGCCGTGATGAC -3'
(R):5'- CAACTTCCACAACTTAAAGCTAGTG -3'
Sequencing Primer
(F):5'- AACTGTCAGCCGTGATGACTTTAG -3'
(R):5'- TGTGATGAGATCCGCTACAC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation