Incidental Mutation 'R6048:Cflar'
| ID |
483365 |
| 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 |
044216-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6048 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
58750667-58798043 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58780202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 269
(T269A)
|
| 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: T266A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000065107
Gene: ENSMUSG00000026031
AA Change: T266A
| 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: T269A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000095329
Gene: ENSMUSG00000026031
AA Change: T269A
| 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: T266A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000109952
Gene: ENSMUSG00000026031
AA Change: T266A
| 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 |
0.2752 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| Validation Efficiency |
98% (60/61) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a2 |
T |
C |
9: 71,169,049 (GRCm39) |
I177T |
probably damaging |
Het |
| Aopep |
T |
A |
13: 63,388,139 (GRCm39) |
F39L |
probably damaging |
Het |
| Arl4c |
A |
G |
1: 88,629,350 (GRCm39) |
S13P |
possibly damaging |
Het |
| Bst1 |
G |
T |
5: 43,976,306 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
G |
A |
14: 55,741,302 (GRCm39) |
R1029Q |
probably benign |
Het |
| Clcnka |
T |
A |
4: 141,121,798 (GRCm39) |
Y236F |
probably damaging |
Het |
| Clmp |
T |
A |
9: 40,682,405 (GRCm39) |
I63N |
probably damaging |
Het |
| Cln6 |
T |
C |
9: 62,751,908 (GRCm39) |
L44P |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,718,915 (GRCm39) |
A280T |
unknown |
Het |
| Dact2 |
A |
G |
17: 14,417,567 (GRCm39) |
L211P |
probably damaging |
Het |
| Dclk2 |
G |
T |
3: 86,813,272 (GRCm39) |
Q225K |
probably damaging |
Het |
| Ddx60 |
T |
C |
8: 62,453,616 (GRCm39) |
F1245S |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,835,259 (GRCm39) |
K3540E |
unknown |
Het |
| Eif3i |
T |
C |
4: 129,487,145 (GRCm39) |
N240S |
probably benign |
Het |
| Enpp1 |
T |
C |
10: 24,536,152 (GRCm39) |
Y416C |
probably damaging |
Het |
| Epb42 |
T |
A |
2: 120,854,889 (GRCm39) |
R565S |
probably benign |
Het |
| Eral1 |
G |
A |
11: 77,966,609 (GRCm39) |
P217L |
probably benign |
Het |
| Fbxl16 |
A |
G |
17: 26,035,967 (GRCm39) |
Y188C |
probably benign |
Het |
| Fgd3 |
G |
A |
13: 49,427,224 (GRCm39) |
P503S |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,340,062 (GRCm39) |
L785P |
probably benign |
Het |
| Gadl1 |
A |
G |
9: 115,835,769 (GRCm39) |
|
probably null |
Het |
| Gm10787 |
C |
T |
10: 76,857,676 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6563 |
A |
G |
19: 23,653,246 (GRCm39) |
K12R |
probably benign |
Het |
| Grm5 |
T |
C |
7: 87,675,758 (GRCm39) |
L424P |
probably damaging |
Het |
| H2ac11 |
A |
G |
13: 22,227,006 (GRCm39) |
V31A |
probably benign |
Het |
| Il17re |
T |
C |
6: 113,447,069 (GRCm39) |
S607P |
possibly damaging |
Het |
| Ints7 |
A |
G |
1: 191,353,524 (GRCm39) |
|
probably benign |
Het |
| Itih1 |
A |
G |
14: 30,651,780 (GRCm39) |
M854T |
possibly damaging |
Het |
| Kif1b |
A |
G |
4: 149,348,086 (GRCm39) |
L315P |
probably damaging |
Het |
| Ms4a6b |
T |
C |
19: 11,497,734 (GRCm39) |
V11A |
possibly damaging |
Het |
| Mxd1 |
C |
A |
6: 86,627,966 (GRCm39) |
D191Y |
probably damaging |
Het |
| Nol8 |
T |
A |
13: 49,807,160 (GRCm39) |
|
probably null |
Het |
| Ntn4 |
T |
A |
10: 93,543,128 (GRCm39) |
|
probably null |
Het |
| Nxph1 |
A |
T |
6: 9,247,103 (GRCm39) |
T25S |
probably benign |
Het |
| Or1n1 |
A |
G |
2: 36,749,853 (GRCm39) |
V169A |
probably benign |
Het |
| Or2bd2 |
A |
C |
7: 6,443,354 (GRCm39) |
T152P |
possibly damaging |
Het |
| Or3a1 |
A |
T |
11: 74,225,961 (GRCm39) |
I32K |
probably benign |
Het |
| Or51f1d |
A |
G |
7: 102,700,526 (GRCm39) |
N7S |
probably benign |
Het |
| Or5ac20 |
C |
T |
16: 59,104,342 (GRCm39) |
V173I |
probably benign |
Het |
| Or6c219 |
A |
G |
10: 129,781,695 (GRCm39) |
F79L |
possibly damaging |
Het |
| Oxsm |
T |
A |
14: 16,242,308 (GRCm38) |
M154L |
possibly damaging |
Het |
| Papolg |
A |
C |
11: 23,841,815 (GRCm39) |
I36S |
probably benign |
Het |
| Pde3b |
T |
A |
7: 114,107,502 (GRCm39) |
H544Q |
probably benign |
Het |
| Pdzd2 |
A |
T |
15: 12,592,656 (GRCm39) |
|
probably null |
Het |
| Prkce |
C |
A |
17: 86,800,775 (GRCm39) |
P397Q |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,276,765 (GRCm39) |
S492G |
possibly damaging |
Het |
| Rnf216 |
A |
G |
5: 143,054,659 (GRCm39) |
Y630H |
probably damaging |
Het |
| Ruvbl1 |
C |
T |
6: 88,459,973 (GRCm39) |
T211I |
possibly damaging |
Het |
| Scyl2 |
A |
T |
10: 89,481,348 (GRCm39) |
D666E |
probably benign |
Het |
| Sertad2 |
A |
G |
11: 20,598,436 (GRCm39) |
T211A |
probably benign |
Het |
| Sipa1l1 |
A |
T |
12: 82,487,643 (GRCm39) |
Q1639L |
probably benign |
Het |
| Snx5 |
T |
C |
2: 144,101,073 (GRCm39) |
D98G |
probably damaging |
Het |
| Sorcs2 |
G |
T |
5: 36,185,332 (GRCm39) |
|
probably null |
Het |
| Spmip2 |
T |
C |
3: 79,313,192 (GRCm39) |
S89P |
probably damaging |
Het |
| Tanc2 |
G |
A |
11: 105,758,543 (GRCm39) |
R768Q |
probably damaging |
Het |
| Tmem132d |
A |
G |
5: 128,346,181 (GRCm39) |
S114P |
probably benign |
Het |
| Tns2 |
G |
A |
15: 102,019,846 (GRCm39) |
G579R |
probably damaging |
Het |
| Usp37 |
A |
T |
1: 74,517,295 (GRCm39) |
|
probably null |
Het |
| Vmn1r79 |
T |
C |
7: 11,910,448 (GRCm39) |
I110T |
probably damaging |
Het |
| Vps37a |
C |
T |
8: 40,981,363 (GRCm39) |
L69F |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,338,587 (GRCm39) |
I276N |
possibly damaging |
Het |
| Zfp946 |
G |
A |
17: 22,673,821 (GRCm39) |
E192K |
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 |
|
R5899:Cflar
|
UTSW |
1 |
58,791,927 (GRCm39) |
missense |
probably benign |
0.36 |
|
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'- TGAGTGATTCACCTGCCAAAG -3'
(R):5'- AGCCACATTATCCAGGATGC -3'
Sequencing Primer
(F):5'- CCTGCCAAAGGGAATGTTTAAAAC -3'
(R):5'- TGTGATGAGATCCGCTACAC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation