Incidental Mutation 'IGL02200:Cflar'
| ID |
284150 |
| 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 # |
IGL02200
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
58750667-58798043 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58791828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 380
(D380G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095329
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069333]
[ENSMUST00000097722]
[ENSMUST00000114313]
|
| AlphaFold |
O35732 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069333
AA Change: D377G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000065107
Gene: ENSMUSG00000026031
AA Change: D377G
| 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 damaging
Transcript: ENSMUST00000097722
AA Change: D380G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095329
Gene: ENSMUSG00000026031
AA Change: D380G
| 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 damaging
Transcript: ENSMUST00000114313
AA Change: D377G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109952
Gene: ENSMUSG00000026031
AA Change: D377G
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,862,663 (GRCm39) |
E207G |
probably benign |
Het |
| Ahi1 |
T |
C |
10: 20,857,213 (GRCm39) |
|
probably benign |
Het |
| Ankrd26 |
A |
T |
6: 118,536,302 (GRCm39) |
V97E |
probably damaging |
Het |
| Cadps2 |
T |
C |
6: 23,385,527 (GRCm39) |
Y736C |
probably damaging |
Het |
| Cdon |
T |
C |
9: 35,394,405 (GRCm39) |
W884R |
probably benign |
Het |
| Clca3a1 |
A |
T |
3: 144,457,690 (GRCm39) |
|
probably benign |
Het |
| Clca3b |
A |
G |
3: 144,547,190 (GRCm39) |
S316P |
probably damaging |
Het |
| Crispld1 |
T |
C |
1: 17,820,557 (GRCm39) |
|
probably benign |
Het |
| Diaph1 |
G |
A |
18: 38,023,735 (GRCm39) |
P701L |
unknown |
Het |
| Dip2b |
T |
C |
15: 100,049,083 (GRCm39) |
L159P |
possibly damaging |
Het |
| Dock1 |
A |
G |
7: 134,346,000 (GRCm39) |
T181A |
probably benign |
Het |
| Ear1 |
C |
T |
14: 44,056,709 (GRCm39) |
R53H |
probably benign |
Het |
| Gm2663 |
A |
G |
6: 40,972,947 (GRCm39) |
V220A |
probably benign |
Het |
| Gpi-ps |
A |
G |
8: 5,689,968 (GRCm39) |
|
noncoding transcript |
Het |
| Grik1 |
A |
G |
16: 87,737,453 (GRCm39) |
F614L |
probably damaging |
Het |
| Htr2a |
T |
A |
14: 74,943,605 (GRCm39) |
I395N |
probably damaging |
Het |
| Itsn2 |
A |
G |
12: 4,686,632 (GRCm39) |
D528G |
probably damaging |
Het |
| Kdr |
T |
C |
5: 76,110,762 (GRCm39) |
|
probably benign |
Het |
| M6pr |
A |
G |
6: 122,292,027 (GRCm39) |
M120V |
probably benign |
Het |
| Mettl13 |
G |
A |
1: 162,366,392 (GRCm39) |
|
probably benign |
Het |
| Mtfmt |
A |
G |
9: 65,356,063 (GRCm39) |
|
probably benign |
Het |
| Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
| Ogfrl1 |
C |
T |
1: 23,409,150 (GRCm39) |
V359I |
probably benign |
Het |
| Or51f1d |
C |
T |
7: 102,701,000 (GRCm39) |
T165I |
probably benign |
Het |
| Ovch2 |
T |
C |
7: 107,394,030 (GRCm39) |
Y141C |
probably damaging |
Het |
| Pwwp2a |
A |
C |
11: 43,596,955 (GRCm39) |
I432L |
possibly damaging |
Het |
| Ryr3 |
C |
T |
2: 112,679,855 (GRCm39) |
V1245M |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,850,937 (GRCm39) |
H587R |
probably damaging |
Het |
| Snrnp40 |
A |
G |
4: 130,254,014 (GRCm39) |
K6E |
probably damaging |
Het |
| Snx13 |
A |
T |
12: 35,136,884 (GRCm39) |
D115V |
probably damaging |
Het |
| Sohlh2 |
C |
A |
3: 55,097,977 (GRCm39) |
T143K |
probably damaging |
Het |
| Spag4 |
T |
C |
2: 155,908,517 (GRCm39) |
L55S |
probably benign |
Het |
| Trgc2 |
T |
C |
13: 19,491,521 (GRCm39) |
|
probably benign |
Het |
| Vmn2r77 |
T |
C |
7: 86,451,187 (GRCm39) |
S358P |
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 |
|
|
IGL02045:Cflar
|
APN |
1 |
58,791,903 (GRCm39) |
missense |
probably benign |
0.25 |
|
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 |
2015-04-16 |
Incidental Mutation