Incidental Mutation 'R5509:Cflar'
ID |
431052 |
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 |
043070-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5509 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
58750667-58798043 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58791551 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 285
(F285L)
|
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: F285L
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000065107 Gene: ENSMUSG00000026031 AA Change: F285L
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: F288L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000095329 Gene: ENSMUSG00000026031 AA Change: F288L
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: F285L
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000109952 Gene: ENSMUSG00000026031 AA Change: F285L
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 |
- 1x: 98.6%
- 3x: 97.4%
- 10x: 95.5%
- 20x: 91.6%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
G |
C |
17: 46,635,185 (GRCm39) |
Q273E |
probably benign |
Het |
Acly |
C |
T |
11: 100,405,805 (GRCm39) |
R329Q |
probably damaging |
Het |
Acsm2 |
T |
C |
7: 119,172,840 (GRCm39) |
S152P |
probably damaging |
Het |
Adamtsl4 |
A |
T |
3: 95,588,667 (GRCm39) |
I515N |
probably benign |
Het |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Atp9a |
T |
C |
2: 168,481,857 (GRCm39) |
D879G |
probably damaging |
Het |
Bmp8b |
G |
A |
4: 123,008,369 (GRCm39) |
D112N |
possibly damaging |
Het |
Camk2d |
T |
C |
3: 126,633,965 (GRCm39) |
W496R |
probably damaging |
Het |
Ccdc192 |
G |
A |
18: 57,671,156 (GRCm39) |
|
probably null |
Het |
Cox16 |
T |
C |
12: 81,519,032 (GRCm39) |
T176A |
probably benign |
Het |
Cux1 |
G |
T |
5: 136,304,171 (GRCm39) |
A1214D |
probably benign |
Het |
Cyb5d1 |
C |
A |
11: 69,284,561 (GRCm39) |
|
probably null |
Het |
Dennd6b |
G |
A |
15: 89,069,225 (GRCm39) |
P575S |
probably damaging |
Het |
Fbxl2 |
A |
T |
9: 113,814,415 (GRCm39) |
|
probably null |
Het |
Gfpt2 |
T |
C |
11: 49,717,973 (GRCm39) |
F483L |
possibly damaging |
Het |
Glrx3 |
T |
C |
7: 137,046,751 (GRCm39) |
C48R |
probably damaging |
Het |
Invs |
G |
A |
4: 48,396,337 (GRCm39) |
V281M |
probably damaging |
Het |
Kif13a |
G |
A |
13: 46,905,591 (GRCm39) |
A784V |
probably benign |
Het |
Kmt2d |
T |
C |
15: 98,737,557 (GRCm39) |
|
probably benign |
Het |
Lmod2 |
A |
G |
6: 24,603,888 (GRCm39) |
T288A |
probably damaging |
Het |
Lrrc37a |
T |
C |
11: 103,391,361 (GRCm39) |
K1355E |
probably benign |
Het |
Magi3 |
A |
T |
3: 103,922,818 (GRCm39) |
S1300T |
probably benign |
Het |
Mdm2 |
A |
C |
10: 117,526,517 (GRCm39) |
D307E |
probably damaging |
Het |
Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
Mroh4 |
T |
C |
15: 74,478,003 (GRCm39) |
Y901C |
probably benign |
Het |
Mtmr14 |
G |
T |
6: 113,230,768 (GRCm39) |
|
probably null |
Het |
Mug2 |
A |
T |
6: 122,061,340 (GRCm39) |
Q1420L |
possibly damaging |
Het |
Net1 |
T |
C |
13: 3,934,320 (GRCm39) |
Q459R |
probably benign |
Het |
Nle1 |
T |
C |
11: 82,794,008 (GRCm39) |
R343G |
possibly damaging |
Het |
Npat |
C |
A |
9: 53,481,542 (GRCm39) |
N1083K |
probably benign |
Het |
Nrp1 |
G |
A |
8: 129,152,396 (GRCm39) |
G202R |
possibly damaging |
Het |
Nsun4 |
C |
T |
4: 115,908,974 (GRCm39) |
V529I |
possibly damaging |
Het |
Or4b1d |
T |
A |
2: 89,969,236 (GRCm39) |
L82F |
probably damaging |
Het |
Or4z4 |
T |
A |
19: 12,076,341 (GRCm39) |
I221F |
possibly damaging |
Het |
Or5b117 |
A |
T |
19: 13,431,332 (GRCm39) |
L183Q |
probably damaging |
Het |
Or8g21 |
T |
C |
9: 38,905,924 (GRCm39) |
D269G |
probably benign |
Het |
Podxl |
A |
T |
6: 31,503,548 (GRCm39) |
N264K |
probably benign |
Het |
Ptprm |
C |
T |
17: 66,996,353 (GRCm39) |
A1245T |
probably damaging |
Het |
Rdh12 |
T |
A |
12: 79,257,558 (GRCm39) |
|
probably null |
Het |
Ryr2 |
T |
A |
13: 11,760,487 (GRCm39) |
Y1532F |
probably damaging |
Het |
Senp2 |
T |
C |
16: 21,859,272 (GRCm39) |
F441S |
probably damaging |
Het |
Snap23 |
C |
A |
2: 120,425,346 (GRCm39) |
P111T |
probably benign |
Het |
Sox2 |
A |
G |
3: 34,704,938 (GRCm39) |
D125G |
probably damaging |
Het |
Syne2 |
T |
C |
12: 75,968,018 (GRCm39) |
W923R |
probably damaging |
Het |
Tbc1d2b |
T |
C |
9: 90,101,022 (GRCm39) |
E656G |
probably damaging |
Het |
Tbcd |
A |
G |
11: 121,492,838 (GRCm39) |
T892A |
probably benign |
Het |
Tg |
A |
G |
15: 66,699,142 (GRCm39) |
I24V |
probably benign |
Het |
Trpm3 |
A |
T |
19: 22,964,622 (GRCm39) |
K1372N |
probably damaging |
Het |
Ubc |
A |
T |
5: 125,464,339 (GRCm39) |
N329K |
probably benign |
Het |
Vmn2r106 |
T |
A |
17: 20,498,684 (GRCm39) |
H409L |
probably damaging |
Het |
Wdfy3 |
T |
A |
5: 102,009,314 (GRCm39) |
N2751Y |
possibly damaging |
Het |
Zfp518a |
T |
A |
19: 40,903,845 (GRCm39) |
I1258K |
possibly damaging |
Het |
Zfp91 |
T |
C |
19: 12,756,451 (GRCm39) |
E131G |
probably damaging |
Het |
Zfyve26 |
T |
A |
12: 79,293,295 (GRCm39) |
R2027W |
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 |
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 |
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'- TGCTTCTACTTTCAGAGGTCTCAG -3'
(R):5'- TGGCTTCCCTCTGAGAGAAG -3'
Sequencing Primer
(F):5'- CAGAGGTCTCAGAGTATCCTTACG -3'
(R):5'- TTCCCTCTGAGAGAAGGGCAC -3'
|
Posted On |
2016-10-05 |