Incidental Mutation 'IGL00959:Cflar'
ID |
26720 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cflar
|
Ensembl Gene |
ENSMUSG00000026031 |
Gene Name |
CASP8 and FADD-like apoptosis regulator |
Synonyms |
Cash, c-Flip, Flip, 2310024N18Rik, Casper, A430105C05Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00959
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
58750667-58798043 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 58768321 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109952
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069333]
[ENSMUST00000069333]
[ENSMUST00000097722]
[ENSMUST00000097722]
[ENSMUST00000114309]
[ENSMUST00000114309]
[ENSMUST00000114313]
[ENSMUST00000114313]
|
AlphaFold |
O35732 |
Predicted Effect |
probably null
Transcript: ENSMUST00000069333
|
SMART Domains |
Protein: ENSMUSP00000065107 Gene: ENSMUSG00000026031
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 null
Transcript: ENSMUST00000069333
|
SMART Domains |
Protein: ENSMUSP00000065107 Gene: ENSMUSG00000026031
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 null
Transcript: ENSMUST00000097722
|
SMART Domains |
Protein: ENSMUSP00000095329 Gene: ENSMUSG00000026031
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 null
Transcript: ENSMUST00000097722
|
SMART Domains |
Protein: ENSMUSP00000095329 Gene: ENSMUSG00000026031
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 null
Transcript: ENSMUST00000114309
|
SMART Domains |
Protein: ENSMUSP00000109948 Gene: ENSMUSG00000026031
Domain | Start | End | E-Value | Type |
DED
|
6 |
78 |
8.94e-22 |
SMART |
DED
|
96 |
175 |
4.33e-29 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000114309
|
SMART Domains |
Protein: ENSMUSP00000109948 Gene: ENSMUSG00000026031
Domain | Start | End | E-Value | Type |
DED
|
6 |
78 |
8.94e-22 |
SMART |
DED
|
96 |
175 |
4.33e-29 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000114313
|
SMART Domains |
Protein: ENSMUSP00000109952 Gene: ENSMUSG00000026031
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 null
Transcript: ENSMUST00000114313
|
SMART Domains |
Protein: ENSMUSP00000109952 Gene: ENSMUSG00000026031
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164900
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox12b |
A |
T |
11: 69,057,069 (GRCm39) |
H430L |
probably damaging |
Het |
Aox4 |
G |
T |
1: 58,278,333 (GRCm39) |
V443F |
probably damaging |
Het |
Bmpr2 |
A |
T |
1: 59,854,474 (GRCm39) |
I108F |
possibly damaging |
Het |
Chchd3 |
A |
G |
6: 32,945,188 (GRCm39) |
V106A |
probably benign |
Het |
Chl1 |
G |
T |
6: 103,686,211 (GRCm39) |
|
probably null |
Het |
Clvs2 |
C |
T |
10: 33,404,459 (GRCm39) |
M252I |
probably benign |
Het |
Cntnap5a |
T |
A |
1: 116,112,057 (GRCm39) |
L449Q |
probably benign |
Het |
Col6a2 |
T |
A |
10: 76,450,368 (GRCm39) |
I188F |
probably damaging |
Het |
Cyp2c55 |
A |
G |
19: 39,026,587 (GRCm39) |
D398G |
probably benign |
Het |
Dennd1b |
T |
C |
1: 139,071,626 (GRCm39) |
|
probably benign |
Het |
Dop1a |
T |
A |
9: 86,369,484 (GRCm39) |
Y106N |
probably damaging |
Het |
Dpy19l1 |
A |
T |
9: 24,334,493 (GRCm39) |
|
probably null |
Het |
Extl3 |
C |
T |
14: 65,314,361 (GRCm39) |
V274I |
probably benign |
Het |
Fras1 |
G |
A |
5: 96,929,140 (GRCm39) |
R3848H |
probably damaging |
Het |
Gm11437 |
A |
C |
11: 84,039,448 (GRCm39) |
|
probably benign |
Het |
Gss |
T |
A |
2: 155,423,871 (GRCm39) |
D2V |
probably damaging |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Ilvbl |
G |
A |
10: 78,419,739 (GRCm39) |
D548N |
probably damaging |
Het |
Jmjd6 |
A |
T |
11: 116,733,202 (GRCm39) |
D115E |
possibly damaging |
Het |
Kidins220 |
T |
A |
12: 25,101,132 (GRCm39) |
S1110R |
possibly damaging |
Het |
Kmt2c |
T |
A |
5: 25,481,227 (GRCm39) |
I4784F |
probably damaging |
Het |
Mrpl52 |
T |
C |
14: 54,664,494 (GRCm39) |
V11A |
possibly damaging |
Het |
Myo3b |
A |
G |
2: 70,144,636 (GRCm39) |
Y1036C |
probably damaging |
Het |
Omp |
T |
C |
7: 97,794,357 (GRCm39) |
D90G |
probably damaging |
Het |
Or6c2b |
T |
A |
10: 128,947,893 (GRCm39) |
M134L |
probably benign |
Het |
Osmr |
T |
C |
15: 6,854,086 (GRCm39) |
I541V |
probably benign |
Het |
Ppp2r1a |
A |
T |
17: 21,181,840 (GRCm39) |
|
probably benign |
Het |
Ptpn13 |
T |
A |
5: 103,665,437 (GRCm39) |
|
probably null |
Het |
Rock2 |
C |
A |
12: 17,028,056 (GRCm39) |
N1429K |
probably benign |
Het |
Saxo4 |
A |
T |
19: 10,454,887 (GRCm39) |
|
probably null |
Het |
Slc25a20 |
T |
G |
9: 108,559,198 (GRCm39) |
M188R |
possibly damaging |
Het |
Slc28a1 |
T |
C |
7: 80,818,816 (GRCm39) |
|
probably benign |
Het |
Sult2a6 |
T |
C |
7: 13,988,634 (GRCm39) |
Y42C |
probably damaging |
Het |
Tgfb2 |
A |
G |
1: 186,436,784 (GRCm39) |
V63A |
probably benign |
Het |
Ugt2b38 |
A |
T |
5: 87,559,682 (GRCm39) |
N403K |
probably damaging |
Het |
Vmn2r29 |
A |
G |
7: 7,244,855 (GRCm39) |
W340R |
probably benign |
Het |
Wnt5a |
C |
T |
14: 28,244,866 (GRCm39) |
T351M |
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 |
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 |
R5858:Cflar
|
UTSW |
1 |
58,793,010 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
|
|
Posted On |
2013-04-17 |