Incidental Mutation 'R5899:Cflar'
| ID |
457706 |
| 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 |
044098-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5899 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
58750667-58798043 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58791927 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 410
(D410G)
|
| 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: D410G
PolyPhen 2
Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000065107
Gene: ENSMUSG00000026031
AA Change: D410G
| 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: D413G
PolyPhen 2
Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000095329
Gene: ENSMUSG00000026031
AA Change: D413G
| 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: D410G
PolyPhen 2
Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109952
Gene: ENSMUSG00000026031
AA Change: D410G
| 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 |
0.2701 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.5%
|
| Validation Efficiency |
93% (56/60) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
T |
C |
10: 20,876,465 (GRCm39) |
I792T |
probably benign |
Het |
| Anks1b |
T |
A |
10: 90,759,379 (GRCm39) |
|
probably null |
Het |
| Ano3 |
T |
G |
2: 110,693,232 (GRCm39) |
D122A |
probably benign |
Het |
| Atp12a |
T |
C |
14: 56,610,801 (GRCm39) |
V315A |
probably benign |
Het |
| B230104I21Rik |
G |
T |
4: 154,433,986 (GRCm39) |
G57* |
probably null |
Het |
| Bpifb2 |
A |
G |
2: 153,733,050 (GRCm39) |
K378E |
probably damaging |
Het |
| Cdk5rap2 |
T |
C |
4: 70,161,830 (GRCm39) |
|
probably benign |
Het |
| Ceacam23 |
A |
G |
7: 17,651,369 (GRCm39) |
D840G |
possibly damaging |
Het |
| Clcn6 |
A |
G |
4: 148,102,049 (GRCm39) |
V345A |
probably benign |
Het |
| Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
| Ddx50 |
T |
A |
10: 62,476,596 (GRCm39) |
K226* |
probably null |
Het |
| Dnah5 |
T |
C |
15: 28,448,513 (GRCm39) |
V4192A |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 30,875,659 (GRCm39) |
D494N |
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,879,660 (GRCm39) |
C965S |
probably benign |
Het |
| Dst |
C |
T |
1: 34,334,370 (GRCm39) |
A5083V |
probably damaging |
Het |
| E130208F15Rik |
T |
C |
7: 30,021,726 (GRCm39) |
Q10R |
probably damaging |
Het |
| Fbxw15 |
T |
C |
9: 109,384,741 (GRCm39) |
|
probably null |
Het |
| Fxr2 |
A |
G |
11: 69,543,511 (GRCm39) |
N671D |
probably damaging |
Het |
| Gbp7 |
A |
G |
3: 142,252,303 (GRCm39) |
T629A |
probably benign |
Het |
| Grm1 |
T |
C |
10: 10,565,092 (GRCm39) |
Y1072C |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,244,685 (GRCm39) |
E714V |
possibly damaging |
Het |
| Hsd17b13 |
T |
A |
5: 104,113,730 (GRCm39) |
E205D |
probably benign |
Het |
| Igf2bp3 |
A |
G |
6: 49,094,084 (GRCm39) |
|
probably benign |
Het |
| Il2ra |
A |
G |
2: 11,689,248 (GRCm39) |
H259R |
probably benign |
Het |
| Klk15 |
G |
T |
7: 43,588,247 (GRCm39) |
R185L |
probably benign |
Het |
| Map3k11 |
T |
G |
19: 5,745,937 (GRCm39) |
|
probably null |
Het |
| Morn3 |
A |
G |
5: 123,179,166 (GRCm39) |
W95R |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,364,328 (GRCm39) |
|
probably null |
Het |
| Nrap |
A |
T |
19: 56,329,006 (GRCm39) |
V1145D |
possibly damaging |
Het |
| Or1e35 |
A |
G |
11: 73,797,755 (GRCm39) |
S188P |
probably damaging |
Het |
| Or2l13b |
C |
T |
16: 19,349,551 (GRCm39) |
G40R |
probably damaging |
Het |
| Or9k2 |
T |
A |
10: 129,998,542 (GRCm39) |
I218F |
probably benign |
Het |
| Pdcd11 |
A |
G |
19: 47,093,198 (GRCm39) |
N492S |
possibly damaging |
Het |
| Ptgfr |
C |
T |
3: 151,540,738 (GRCm39) |
V257I |
probably damaging |
Het |
| Racgap1 |
T |
C |
15: 99,521,509 (GRCm39) |
E549G |
possibly damaging |
Het |
| Rfx3 |
T |
C |
19: 27,808,165 (GRCm39) |
T193A |
probably damaging |
Het |
| Rplp0 |
T |
A |
5: 115,699,489 (GRCm39) |
I149N |
probably benign |
Het |
| Samd7 |
T |
G |
3: 30,810,883 (GRCm39) |
I300S |
probably benign |
Het |
| Scpep1 |
A |
G |
11: 88,825,402 (GRCm39) |
|
probably null |
Het |
| Senp6 |
T |
C |
9: 80,049,352 (GRCm39) |
|
probably benign |
Het |
| Serpinb2 |
G |
T |
1: 107,447,446 (GRCm39) |
G78V |
probably damaging |
Het |
| Sesn1 |
T |
C |
10: 41,687,189 (GRCm39) |
S58P |
probably benign |
Het |
| Skic3 |
A |
G |
13: 76,259,938 (GRCm39) |
|
probably null |
Het |
| Spg11 |
T |
C |
2: 121,928,680 (GRCm39) |
D591G |
possibly damaging |
Het |
| Spire2 |
A |
C |
8: 124,080,833 (GRCm39) |
S26R |
probably damaging |
Het |
| Strip2 |
T |
A |
6: 29,956,957 (GRCm39) |
|
probably benign |
Het |
| Ttn |
G |
A |
2: 76,697,519 (GRCm39) |
|
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,460,924 (GRCm39) |
Y750C |
probably damaging |
Het |
| Wnt11 |
T |
A |
7: 98,488,383 (GRCm39) |
Y23* |
probably null |
Het |
| Zbp1 |
T |
A |
2: 173,052,340 (GRCm39) |
D272V |
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 |
|
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 |
|
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'- TCTCTCAGAGGGAAGCCAAAG -3'
(R):5'- CCCCAAAGCAATTTGAACTGG -3'
Sequencing Primer
(F):5'- AATGTGGACTCTAAGCCC -3'
(R):5'- AAAGTCTCTGTCCTGTCGAAG -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation