Incidental Mutation 'R4644:Cflar'
| ID |
351757 |
| 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 |
041905-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4644 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
58750667-58798043 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58770426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 173
(I173N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109948
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069333]
[ENSMUST00000097722]
[ENSMUST00000114309]
[ENSMUST00000114313]
|
| AlphaFold |
O35732 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069333
AA Change: I173N
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000065107
Gene: ENSMUSG00000026031
AA Change: I173N
| 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: I173N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095329
Gene: ENSMUSG00000026031
AA Change: I173N
| 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: ENSMUST00000114309
AA Change: I173N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109948
Gene: ENSMUSG00000026031
AA Change: I173N
| Domain | Start | End | E-Value | Type |
|---|
|
DED
|
6 |
78 |
8.94e-22 |
SMART |
|
DED
|
96 |
175 |
4.33e-29 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114313
AA Change: I173N
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109952
Gene: ENSMUSG00000026031
AA Change: I173N
| 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
|
| Meta Mutation Damage Score |
0.9073 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (44/45) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
T |
G |
1: 165,378,930 (GRCm39) |
|
probably null |
Het |
| Ano5 |
C |
A |
7: 51,237,433 (GRCm39) |
Y702* |
probably null |
Het |
| Bsph2 |
A |
T |
7: 13,304,942 (GRCm39) |
V11E |
possibly damaging |
Het |
| Camk1g |
T |
A |
1: 193,038,667 (GRCm39) |
D85V |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
| Dgkd |
T |
C |
1: 87,864,016 (GRCm39) |
V904A |
probably damaging |
Het |
| Dnajc21 |
T |
C |
15: 10,464,003 (GRCm39) |
D54G |
possibly damaging |
Het |
| Doc2a |
C |
A |
7: 126,450,618 (GRCm39) |
T298K |
probably benign |
Het |
| Dsg1a |
A |
T |
18: 20,473,785 (GRCm39) |
I953L |
probably benign |
Het |
| Fga |
C |
A |
3: 82,937,573 (GRCm39) |
A150E |
possibly damaging |
Het |
| Frem3 |
T |
A |
8: 81,340,356 (GRCm39) |
M883K |
probably benign |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Klhdc4 |
G |
C |
8: 122,548,739 (GRCm39) |
|
probably benign |
Het |
| Mgst1 |
T |
C |
6: 138,133,368 (GRCm39) |
Y50H |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nsmaf |
A |
G |
4: 6,419,940 (GRCm39) |
|
probably benign |
Het |
| Pp2d1 |
T |
C |
17: 53,823,015 (GRCm39) |
K17R |
probably benign |
Het |
| Prss39 |
C |
T |
1: 34,541,207 (GRCm39) |
T237M |
probably damaging |
Het |
| Ptpra |
T |
C |
2: 130,386,078 (GRCm39) |
I595T |
probably damaging |
Het |
| Ptpre |
C |
T |
7: 135,253,661 (GRCm39) |
|
probably benign |
Het |
| Rictor |
C |
A |
15: 6,807,416 (GRCm39) |
C728* |
probably null |
Het |
| Scn11a |
C |
T |
9: 119,644,269 (GRCm39) |
|
probably null |
Het |
| Scn1b |
A |
T |
7: 30,817,212 (GRCm39) |
L170* |
probably null |
Het |
| Semp2l2b |
A |
G |
10: 21,942,660 (GRCm39) |
V440A |
probably benign |
Het |
| Slc35f3 |
A |
G |
8: 127,047,809 (GRCm39) |
R50G |
possibly damaging |
Het |
| Sorcs3 |
G |
A |
19: 48,672,036 (GRCm39) |
V412M |
probably damaging |
Het |
| Spg11 |
C |
T |
2: 121,891,510 (GRCm39) |
V1954I |
probably benign |
Het |
| Srcap |
C |
T |
7: 127,151,770 (GRCm39) |
R2049C |
probably damaging |
Het |
| Ssh2 |
T |
C |
11: 77,340,402 (GRCm39) |
V518A |
possibly damaging |
Het |
| Stab1 |
G |
A |
14: 30,862,444 (GRCm39) |
|
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,937,963 (GRCm39) |
F1570S |
probably benign |
Het |
| Tpr |
T |
A |
1: 150,299,250 (GRCm39) |
V1076E |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,562,757 (GRCm39) |
Y26986* |
probably null |
Het |
| Unc45a |
C |
T |
7: 79,978,257 (GRCm39) |
A673T |
probably damaging |
Het |
| Utp25 |
A |
G |
1: 192,810,788 (GRCm39) |
Y72H |
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 |
|
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 |
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCACTGGGGACTTGTCAG -3'
(R):5'- CAATTTTCAGAGGGAGATTTGCCAG -3'
Sequencing Primer
(F):5'- GGACTTGTCAGTTCCACTCACATG -3'
(R):5'- CCAGTGGAGTGGGGATACTG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation