Incidental Mutation 'R5415:Cideb'
| ID |
427694 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cideb
|
| Ensembl Gene |
ENSMUSG00000022219 |
| Gene Name |
cell death-inducing DNA fragmentation factor, alpha subunit-like effector B |
| Synonyms |
DFFA-like B, CIDE-B, 1110030C18Rik |
| MMRRC Submission |
042984-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R5415 (G1)
|
| Quality Score |
200 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
55991509-55995881 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55995312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 58
(E58G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001497]
[ENSMUST00000019441]
[ENSMUST00000044554]
|
| AlphaFold |
O70303 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001497
AA Change: E58G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001497
Gene: ENSMUSG00000022219
AA Change: E58G
| Domain | Start | End | E-Value | Type |
|---|
|
CAD
|
36 |
108 |
2.16e-41 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019441
|
| SMART Domains |
Protein: ENSMUSP00000019441
Gene: ENSMUSG00000019297
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
55 |
N/A |
INTRINSIC |
|
Blast:Pumilio
|
92 |
127 |
3e-15 |
BLAST |
|
Pumilio
|
189 |
220 |
2.74e2 |
SMART |
|
Blast:Pumilio
|
263 |
298 |
3e-14 |
BLAST |
|
Pumilio
|
314 |
349 |
4.38e1 |
SMART |
|
Pumilio
|
351 |
387 |
1.03e1 |
SMART |
|
Pumilio
|
509 |
546 |
1.72e1 |
SMART |
|
Pumilio
|
547 |
582 |
9.17e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044554
|
| SMART Domains |
Protein: ENSMUSP00000048358
Gene: ENSMUSG00000040432
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
35 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
37 |
288 |
5.7e-31 |
PFAM |
|
low complexity region
|
309 |
323 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
351 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136270
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228302
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele display a lean phenotype, increased energy expenditure and improved insulin sensitivity and are resistant to high-fat diet-induced obesity, hyperlipidemia, or liver steatosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef18 |
G |
A |
8: 3,438,075 (GRCm39) |
R303H |
probably damaging |
Het |
| Ark2c |
C |
A |
18: 77,554,435 (GRCm39) |
V60L |
probably damaging |
Het |
| Asb15 |
A |
T |
6: 24,570,690 (GRCm39) |
Q556L |
probably benign |
Het |
| Ccr1 |
G |
T |
9: 123,764,413 (GRCm39) |
P39H |
probably damaging |
Het |
| Cd177 |
A |
T |
7: 24,451,816 (GRCm39) |
L400Q |
probably damaging |
Het |
| Cfap298 |
G |
T |
16: 90,722,953 (GRCm39) |
D260E |
probably benign |
Het |
| Drd2 |
A |
G |
9: 49,313,553 (GRCm39) |
K241E |
possibly damaging |
Het |
| Ect2 |
C |
T |
3: 27,201,002 (GRCm39) |
C126Y |
probably damaging |
Het |
| Eef1d |
T |
C |
15: 75,775,030 (GRCm39) |
T210A |
probably benign |
Het |
| Enpp2 |
G |
A |
15: 54,745,552 (GRCm39) |
H315Y |
probably damaging |
Het |
| Ero1b |
A |
T |
13: 12,616,656 (GRCm39) |
M362L |
probably benign |
Het |
| Exosc2 |
A |
G |
2: 31,562,578 (GRCm39) |
K73E |
possibly damaging |
Het |
| Gm9637 |
T |
A |
14: 19,402,143 (GRCm38) |
|
noncoding transcript |
Het |
| Gstm5 |
A |
G |
3: 107,804,811 (GRCm39) |
D101G |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,519,699 (GRCm39) |
D2137G |
probably benign |
Het |
| Mecom |
T |
C |
3: 30,011,675 (GRCm39) |
D619G |
possibly damaging |
Het |
| Met |
A |
G |
6: 17,527,084 (GRCm39) |
I512V |
probably benign |
Het |
| Myh15 |
A |
G |
16: 48,937,658 (GRCm39) |
K753R |
probably null |
Het |
| Nfatc4 |
A |
G |
14: 56,070,091 (GRCm39) |
D753G |
probably benign |
Het |
| Or2l5 |
T |
A |
16: 19,333,996 (GRCm39) |
H130L |
possibly damaging |
Het |
| Or4c113 |
T |
A |
2: 88,885,240 (GRCm39) |
T177S |
probably benign |
Het |
| Or4c12 |
T |
A |
2: 89,773,731 (GRCm39) |
T243S |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Parp9 |
C |
T |
16: 35,763,752 (GRCm39) |
A10V |
probably damaging |
Het |
| Pcdh8 |
C |
A |
14: 80,007,688 (GRCm39) |
E292* |
probably null |
Het |
| Pdpn |
A |
T |
4: 142,995,788 (GRCm39) |
V161D |
probably damaging |
Het |
| Peg3 |
A |
G |
7: 6,711,628 (GRCm39) |
V1198A |
probably benign |
Het |
| Phykpl |
T |
C |
11: 51,476,342 (GRCm39) |
S21P |
probably benign |
Het |
| Plcb1 |
G |
T |
2: 135,189,322 (GRCm39) |
V817F |
possibly damaging |
Het |
| Polk |
T |
C |
13: 96,620,463 (GRCm39) |
Y579C |
probably benign |
Het |
| Ppp1r18 |
A |
G |
17: 36,178,511 (GRCm39) |
N129D |
probably benign |
Het |
| Psg29 |
C |
A |
7: 16,945,561 (GRCm39) |
|
probably null |
Het |
| Rims4 |
C |
T |
2: 163,760,596 (GRCm39) |
R3H |
probably benign |
Het |
| Rps6kl1 |
A |
T |
12: 85,186,155 (GRCm39) |
C292S |
probably benign |
Het |
| Uaca |
G |
T |
9: 60,777,421 (GRCm39) |
G603C |
possibly damaging |
Het |
| Vmn1r60 |
T |
C |
7: 5,547,416 (GRCm39) |
H228R |
probably benign |
Het |
| Vmn2r7 |
T |
C |
3: 64,623,658 (GRCm39) |
T221A |
probably benign |
Het |
| Zfp647 |
C |
A |
15: 76,795,593 (GRCm39) |
V356L |
possibly damaging |
Het |
|
| Other mutations in Cideb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00987:Cideb
|
APN |
14 |
55,992,017 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Oxymoron
|
UTSW |
14 |
55,995,409 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1526:Cideb
|
UTSW |
14 |
55,992,619 (GRCm39) |
nonsense |
probably null |
|
|
R1920:Cideb
|
UTSW |
14 |
55,992,700 (GRCm39) |
missense |
probably benign |
|
|
R2073:Cideb
|
UTSW |
14 |
55,992,617 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4584:Cideb
|
UTSW |
14 |
55,995,727 (GRCm39) |
missense |
probably benign |
|
|
R4650:Cideb
|
UTSW |
14 |
55,992,688 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5106:Cideb
|
UTSW |
14 |
55,991,982 (GRCm39) |
missense |
probably benign |
|
|
R5420:Cideb
|
UTSW |
14 |
55,995,748 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R6471:Cideb
|
UTSW |
14 |
55,995,409 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7234:Cideb
|
UTSW |
14 |
55,992,017 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7455:Cideb
|
UTSW |
14 |
55,992,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7595:Cideb
|
UTSW |
14 |
55,992,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7806:Cideb
|
UTSW |
14 |
55,992,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7993:Cideb
|
UTSW |
14 |
55,995,899 (GRCm39) |
unclassified |
probably benign |
|
|
R8354:Cideb
|
UTSW |
14 |
55,992,598 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8454:Cideb
|
UTSW |
14 |
55,992,598 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
X0064:Cideb
|
UTSW |
14 |
55,995,433 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTACTGTTCCTCTGCCAAAG -3'
(R):5'- TTATCAACAAGTTTGCCAACCC -3'
Sequencing Primer
(F):5'- TGTTCCTCTGCCAAAGAAAGC -3'
(R):5'- TGTGAGCTCGGAGTTAAG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation