Incidental Mutation 'IGL00987:Cideb'
| ID |
29010 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
IGL00987
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
55991509-55995881 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 55992017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 179
(R179L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001497]
[ENSMUST00000019441]
|
| AlphaFold |
O70303 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001497
AA Change: R179L
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000001497
Gene: ENSMUSG00000022219
AA Change: R179L
| 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 |
noncoding transcript
Transcript: ENSMUST00000136270
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227300
|
| Coding Region Coverage |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot9 |
T |
C |
X: 154,078,177 (GRCm39) |
I241T |
probably benign |
Het |
| Atp5mc3 |
T |
A |
2: 73,740,270 (GRCm39) |
R19* |
probably null |
Het |
| Celf4 |
T |
C |
18: 25,620,007 (GRCm39) |
D420G |
probably damaging |
Het |
| Cmtr1 |
G |
A |
17: 29,916,143 (GRCm39) |
R591H |
probably benign |
Het |
| Dync1li2 |
A |
T |
8: 105,169,130 (GRCm39) |
S34T |
possibly damaging |
Het |
| Eri2 |
A |
G |
7: 119,390,389 (GRCm39) |
Y80H |
probably damaging |
Het |
| Eya2 |
A |
G |
2: 165,596,401 (GRCm39) |
E304G |
probably damaging |
Het |
| Fam135a |
A |
C |
1: 24,094,979 (GRCm39) |
L130V |
probably damaging |
Het |
| Fancb |
A |
T |
X: 163,774,594 (GRCm39) |
K410N |
probably damaging |
Het |
| Gabpb2 |
A |
C |
3: 95,107,502 (GRCm39) |
V191G |
probably damaging |
Het |
| Gfm1 |
A |
G |
3: 67,345,893 (GRCm39) |
H197R |
possibly damaging |
Het |
| Gm11595 |
A |
G |
11: 99,663,365 (GRCm39) |
V105A |
unknown |
Het |
| Hectd3 |
T |
A |
4: 116,856,840 (GRCm39) |
D462E |
probably damaging |
Het |
| Herc1 |
G |
T |
9: 66,315,334 (GRCm39) |
V1139L |
probably benign |
Het |
| Itgal |
T |
C |
7: 126,901,183 (GRCm39) |
F190L |
probably damaging |
Het |
| Krt87 |
G |
A |
15: 101,336,327 (GRCm39) |
H109Y |
probably benign |
Het |
| Lmf2 |
T |
C |
15: 89,238,771 (GRCm39) |
Y115C |
probably benign |
Het |
| Papolg |
T |
A |
11: 23,826,377 (GRCm39) |
Y259F |
possibly damaging |
Het |
| Parn |
T |
C |
16: 13,485,467 (GRCm39) |
I10V |
probably benign |
Het |
| Pdcd11 |
T |
A |
19: 47,102,989 (GRCm39) |
|
probably benign |
Het |
| Phldb2 |
T |
A |
16: 45,583,465 (GRCm39) |
Q1003L |
possibly damaging |
Het |
| Pigg |
T |
A |
5: 108,489,944 (GRCm39) |
F850I |
probably damaging |
Het |
| Pkp4 |
T |
C |
2: 59,138,701 (GRCm39) |
L317P |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,634,620 (GRCm39) |
|
probably benign |
Het |
| Prdm16 |
G |
A |
4: 154,426,426 (GRCm39) |
T453M |
possibly damaging |
Het |
| Rnf144b |
A |
T |
13: 47,360,969 (GRCm39) |
E36D |
possibly damaging |
Het |
| Ryr2 |
G |
A |
13: 11,750,388 (GRCm39) |
T1961I |
probably damaging |
Het |
| Sash1 |
T |
A |
10: 8,627,177 (GRCm39) |
K305I |
probably damaging |
Het |
| Tbc1d7 |
A |
T |
13: 43,312,797 (GRCm39) |
I32N |
probably damaging |
Het |
| Thop1 |
T |
C |
10: 80,917,529 (GRCm39) |
F623L |
probably damaging |
Het |
| Thsd7b |
G |
A |
1: 129,541,016 (GRCm39) |
G297R |
probably damaging |
Het |
| Tln1 |
C |
A |
4: 43,551,297 (GRCm39) |
|
probably benign |
Het |
| Vmn1r183 |
A |
G |
7: 23,754,649 (GRCm39) |
N151D |
probably damaging |
Het |
|
| Other mutations in Cideb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R5415:Cideb
|
UTSW |
14 |
55,995,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2013-04-17 |
Incidental Mutation