Incidental Mutation 'R6471:Cideb'
| ID |
516709 |
| 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 |
044604-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R6471 (G1)
|
| Quality Score |
188.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55991509-55995881 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55995409 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 26
(R26G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001497]
[ENSMUST00000019441]
[ENSMUST00000044554]
|
| AlphaFold |
O70303 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001497
AA Change: R26G
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000001497
Gene: ENSMUSG00000022219
AA Change: R26G
| 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
|
| Meta Mutation Damage Score |
0.1131 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.1%
- 20x: 93.6%
|
| Validation Efficiency |
97% (29/30) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Birc2 |
A |
G |
9: 7,857,421 (GRCm39) |
S351P |
probably benign |
Het |
| Car9 |
T |
C |
4: 43,511,938 (GRCm39) |
V319A |
probably damaging |
Het |
| Ccdc86 |
A |
G |
19: 10,926,243 (GRCm39) |
S119P |
unknown |
Het |
| Ciao2a |
T |
A |
9: 66,034,139 (GRCm39) |
V4E |
possibly damaging |
Het |
| Clip1 |
A |
G |
5: 123,778,612 (GRCm39) |
V437A |
probably damaging |
Het |
| Cobll1 |
A |
G |
2: 64,938,228 (GRCm39) |
S352P |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Exoc3l |
A |
G |
8: 106,017,166 (GRCm39) |
V607A |
probably damaging |
Het |
| Fam227b |
A |
T |
2: 125,962,985 (GRCm39) |
V177D |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Gdap1 |
T |
A |
1: 17,230,249 (GRCm39) |
N227K |
possibly damaging |
Het |
| Glod4 |
A |
T |
11: 76,124,744 (GRCm39) |
F185L |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Lrrc37 |
T |
A |
11: 103,510,448 (GRCm39) |
|
probably benign |
Het |
| Map3k19 |
C |
T |
1: 127,744,991 (GRCm39) |
V1488M |
probably damaging |
Het |
| Pak5 |
A |
T |
2: 135,958,110 (GRCm39) |
M326K |
probably benign |
Het |
| Peak1 |
A |
G |
9: 56,165,543 (GRCm39) |
L795P |
probably damaging |
Het |
| Plcg1 |
A |
G |
2: 160,595,630 (GRCm39) |
D526G |
probably benign |
Het |
| Rapgef6 |
A |
G |
11: 54,582,563 (GRCm39) |
I1492V |
probably damaging |
Het |
| Rbfa |
G |
T |
18: 80,243,673 (GRCm39) |
S31* |
probably null |
Het |
| Rnft1 |
T |
C |
11: 86,382,508 (GRCm39) |
Y244H |
possibly damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
| Slc6a3 |
G |
A |
13: 73,693,003 (GRCm39) |
G208R |
probably benign |
Het |
| Tex15 |
G |
T |
8: 34,071,762 (GRCm39) |
Q2436H |
probably damaging |
Het |
| Ttbk1 |
A |
G |
17: 46,778,203 (GRCm39) |
L613P |
probably benign |
Het |
| Tuba1b |
T |
C |
15: 98,830,328 (GRCm39) |
K164R |
probably benign |
Het |
| Usp9y |
A |
G |
Y: 1,384,511 (GRCm39) |
L669P |
probably damaging |
Homo |
| Vmn1r169 |
A |
G |
7: 23,276,970 (GRCm39) |
T121A |
probably benign |
Het |
| Vmn2r51 |
A |
C |
7: 9,836,510 (GRCm39) |
D90E |
possibly damaging |
Het |
| Zfp318 |
A |
G |
17: 46,710,431 (GRCm39) |
H718R |
probably benign |
Het |
| Zfp93 |
T |
C |
7: 23,972,754 (GRCm39) |
Y33H |
probably 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 |
|
|
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 |
|
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'- CTGACCCCACTATCATGAGTCC -3'
(R):5'- AACCCTAGGGATATGGGCAG -3'
Sequencing Primer
(F):5'- ATGAGTCCCATGGCTTCCTTG -3'
(R):5'- TAGACCCTCTAGCTACCCC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation