Incidental Mutation 'IGL02045:Cflar'
| ID |
184906 |
| 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 # |
IGL02045
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
58750667-58798043 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58791903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 405
(I405T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095329
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069333]
[ENSMUST00000097722]
[ENSMUST00000114313]
|
| AlphaFold |
O35732 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069333
AA Change: I402T
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000065107
Gene: ENSMUSG00000026031
AA Change: I402T
| 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: I405T
PolyPhen 2
Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000095329
Gene: ENSMUSG00000026031
AA Change: I405T
| 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: I402T
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000109952
Gene: ENSMUSG00000026031
AA Change: I402T
| 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
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
C |
A |
5: 114,378,721 (GRCm39) |
H2044Q |
possibly damaging |
Het |
| Ankrd12 |
A |
T |
17: 66,293,244 (GRCm39) |
S730T |
probably benign |
Het |
| Ano9 |
A |
T |
7: 140,682,382 (GRCm39) |
N655K |
probably benign |
Het |
| Ap1ar |
A |
T |
3: 127,609,298 (GRCm39) |
Y108N |
probably damaging |
Het |
| Asap3 |
A |
G |
4: 135,954,752 (GRCm39) |
I55V |
probably benign |
Het |
| Barx2 |
T |
C |
9: 31,770,094 (GRCm39) |
T145A |
probably damaging |
Het |
| Camta1 |
T |
C |
4: 151,158,442 (GRCm39) |
|
probably null |
Het |
| Ces2e |
C |
T |
8: 105,657,290 (GRCm39) |
|
probably benign |
Het |
| Cibar2 |
T |
A |
8: 120,896,461 (GRCm39) |
K174* |
probably null |
Het |
| Cyp51 |
A |
G |
5: 4,133,247 (GRCm39) |
S464P |
probably damaging |
Het |
| Ermard |
G |
A |
17: 15,271,826 (GRCm39) |
|
probably benign |
Het |
| Glb1l2 |
T |
C |
9: 26,707,841 (GRCm39) |
T49A |
probably benign |
Het |
| Gls |
A |
G |
1: 52,258,674 (GRCm39) |
V198A |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,115,855 (GRCm39) |
I867N |
probably damaging |
Het |
| Ighv1-14 |
A |
T |
12: 114,610,334 (GRCm39) |
|
noncoding transcript |
Het |
| Iqsec1 |
T |
C |
6: 90,641,051 (GRCm39) |
K1022E |
probably damaging |
Het |
| Myo10 |
A |
G |
15: 25,726,574 (GRCm39) |
T299A |
probably benign |
Het |
| Nr2e3 |
A |
T |
9: 59,856,291 (GRCm39) |
M82K |
probably benign |
Het |
| Ntpcr |
A |
G |
8: 126,472,191 (GRCm39) |
|
probably benign |
Het |
| Or1e26 |
A |
G |
11: 73,480,058 (GRCm39) |
C169R |
probably damaging |
Het |
| Or4d10b |
T |
C |
19: 12,036,253 (GRCm39) |
T288A |
possibly damaging |
Het |
| Or52s6 |
A |
G |
7: 103,092,159 (GRCm39) |
L57P |
probably damaging |
Het |
| Or5p80 |
A |
G |
7: 108,229,739 (GRCm39) |
D180G |
probably damaging |
Het |
| Or6c70 |
A |
T |
10: 129,710,091 (GRCm39) |
D178E |
probably benign |
Het |
| Prkcb |
A |
G |
7: 122,189,390 (GRCm39) |
D506G |
probably damaging |
Het |
| Rasgef1a |
A |
G |
6: 118,066,404 (GRCm39) |
I470V |
probably benign |
Het |
| Rbm27 |
A |
G |
18: 42,452,978 (GRCm39) |
E514G |
possibly damaging |
Het |
| Rgs22 |
G |
A |
15: 36,013,300 (GRCm39) |
A1048V |
probably benign |
Het |
| Secisbp2l |
A |
G |
2: 125,617,498 (GRCm39) |
F60L |
possibly damaging |
Het |
| Six4 |
T |
C |
12: 73,155,429 (GRCm39) |
S505G |
probably benign |
Het |
| Skint1 |
T |
A |
4: 111,882,727 (GRCm39) |
V257E |
possibly damaging |
Het |
| Smad9 |
A |
G |
3: 54,693,593 (GRCm39) |
N174S |
possibly damaging |
Het |
| Smc2 |
A |
G |
4: 52,462,914 (GRCm39) |
N635D |
probably benign |
Het |
| Stradb |
T |
A |
1: 59,028,937 (GRCm39) |
I135N |
probably damaging |
Het |
| Syt12 |
T |
C |
19: 4,497,762 (GRCm39) |
T407A |
probably damaging |
Het |
| Tmc8 |
T |
A |
11: 117,677,346 (GRCm39) |
I322N |
probably damaging |
Het |
| Tnip1 |
A |
C |
11: 54,802,365 (GRCm39) |
*648G |
probably null |
Het |
| Ttc3 |
T |
C |
16: 94,210,540 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation