Mutagenetix > Incidental Mutations

Incidental Mutation 'R8454:Cideb'

654952

Institutional Source

Beutler Lab

Gene Symbol

Cideb

Ensembl Gene

ENSMUSG00000022219

Gene Name

cell death-inducing DNA fragmentation factor, alpha subunit-like effector B

Synonyms

1110030C18Rik, CIDE-B, DFFA-like B

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R8454 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55754050-55758458 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55755141 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 106 (Q106L)

Ref Sequence

ENSEMBL: ENSMUSP00000001497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001497] [ENSMUST00000019441]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001497
AA Change: Q106L

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000001497
Gene: ENSMUSG00000022219
AA Change: Q106L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	A	7: 118,792,572	F493Y	probably benign	Het
Abcc10	C	A	17: 46,324,177	G300V	possibly damaging	Het
Adgrg7	C	G	16: 56,795,682		probably benign	Het
Agt	G	A	8: 124,564,103	T155M	probably benign	Het
Atp8b3	A	G	10: 80,525,799	V763A	probably benign	Het
Btn1a1	C	A	13: 23,464,250	V138L	probably benign	Het
Cd163	A	T	6: 124,328,965	N1109I	probably benign	Het
Cntn1	A	G	15: 92,232,249	T126A	probably benign	Het
Dusp27	A	T	1: 166,108,133	N165K	probably damaging	Het
Elfn1	T	C	5: 139,971,471	Y77H	probably damaging	Het
Eml3	A	G	19: 8,934,994	H386R	probably damaging	Het
Fbxo21	A	G	5: 117,995,414	D413G	probably damaging	Het
Fkbp8	T	A	8: 70,531,763		probably null	Het
Fzd1	T	C	5: 4,757,336	Q82R	probably benign	Het
Gast	T	C	11: 100,336,568	L29P	probably benign	Het
Glb1l2	C	A	9: 26,806,417		probably benign	Het
Gm1110	C	G	9: 26,883,280	Q483H	probably benign	Het
Gm1110	T	A	9: 26,883,281	Q483L	probably benign	Het
Gm5737	T	A	7: 120,831,180	V420E	possibly damaging	Het
Gpc6	T	C	14: 116,925,979	L15P	probably damaging	Het
Hagh	C	A	17: 24,857,562	S161*	probably null	Het
Hrh1	A	G	6: 114,480,853	D365G	probably benign	Het
Ighv1-36	A	T	12: 114,879,940	M100K	probably damaging	Het
Itgb8	A	T	12: 119,170,778	V518D	probably benign	Het
Krt82	T	C	15: 101,541,803	Y486C	probably damaging	Het
Lmbr1l	A	G	15: 98,912,476	S85P	probably damaging	Het
Met	A	G	6: 17,491,769	S177G	probably damaging	Het
Myl9	T	A	2: 156,781,128	I162N	possibly damaging	Het
Npat	T	A	9: 53,566,951	N973K	possibly damaging	Het
Olfr493	A	T	7: 108,346,682	C100S	probably damaging	Het
Pcdhga12	A	T	18: 37,768,137	D674V	possibly damaging	Het
Phtf1	T	A	3: 104,004,449	N702K	probably damaging	Het
Plaa	A	T	4: 94,569,477	I752N	probably damaging	Het
Pnpla2	T	C	7: 141,458,098	C194R	probably damaging	Het
Rnaseh2a	T	C	8: 84,965,147	N133S	probably benign	Het
Rps6ka1	T	A	4: 133,848,553	Q685L	probably benign	Het
Ryr1	C	A	7: 29,015,717	G4661C	unknown	Het
Samd13	T	A	3: 146,646,402	M65L	probably benign	Het
Sec22c	A	G	9: 121,695,655	S21P	probably damaging	Het
Sh3d19	C	A	3: 86,107,022	T431K	probably benign	Het
Sin3b	A	G	8: 72,741,480	M277V	probably benign	Het
Sis	T	C	3: 72,947,501	T468A	possibly damaging	Het
Slitrk3	T	C	3: 73,049,180	N753S	probably benign	Het
Slitrk6	C	A	14: 110,752,046	L76F	probably damaging	Het
Stk3	C	T	15: 34,876,724	A478T	probably damaging	Het
Sugp1	C	A	8: 70,071,597	Y617*	probably null	Het
Tinag	T	C	9: 77,031,695	D167G	probably damaging	Het
Tk2	A	G	8: 104,241,114		probably null	Het
Tmem209	A	T	6: 30,489,309	V514D	probably damaging	Het
Tmprss9	A	G	10: 80,887,486	H260R	probably benign	Het
Tnfrsf14	T	A	4: 154,926,655	Y83F	possibly damaging	Het
Tnfrsf8	A	T	4: 145,287,983	D285E	probably benign	Het
Togaram2	C	G	17: 71,697,878	A310G	probably benign	Het
Trpv3	A	G	11: 73,291,622	Y544C	probably damaging	Het
Ttl	T	A	2: 129,066,184	V13D	probably damaging	Het
Usp40	A	T	1: 87,980,972	D602E	probably benign	Het
Vamp5	A	G	6: 72,370,393		probably benign	Het
Vmn2r65	T	A	7: 84,940,194	H838L	possibly damaging	Het
Wdr63	T	C	3: 146,097,227	K70E	probably damaging	Het
Zfp960	T	A	17: 17,088,199	Y392N	probably benign	Het

Other mutations in Cideb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00987:Cideb	APN	14	55754560	missense	possibly damaging	0.78
Oxymoron	UTSW	14	55757952	missense	probably benign	0.43
R1526:Cideb	UTSW	14	55755162	nonsense	probably null
R1920:Cideb	UTSW	14	55755243	missense	probably benign
R2073:Cideb	UTSW	14	55755160	missense	possibly damaging	0.88
R4584:Cideb	UTSW	14	55758270	missense	probably benign
R4650:Cideb	UTSW	14	55755231	missense	possibly damaging	0.92
R5106:Cideb	UTSW	14	55754525	missense	probably benign
R5415:Cideb	UTSW	14	55757855	missense	probably damaging	1.00
R5420:Cideb	UTSW	14	55758291	start codon destroyed	probably null	1.00
R6471:Cideb	UTSW	14	55757952	missense	probably benign	0.43
R7234:Cideb	UTSW	14	55754560	missense	probably benign	0.03
R7455:Cideb	UTSW	14	55754835	missense	probably damaging	1.00
R7595:Cideb	UTSW	14	55754804	missense	probably damaging	1.00
R7806:Cideb	UTSW	14	55755168	missense	probably damaging	1.00
R7993:Cideb	UTSW	14	55758442	unclassified	probably benign
R8354:Cideb	UTSW	14	55755141	missense	possibly damaging	0.91
X0064:Cideb	UTSW	14	55757976	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AAGTGGACCTGCCCTCATAC -3'
(R):5'- ATATGCCAACCAGCGTGAG -3'

Sequencing Primer
(F):5'- AATCCTGTCAGTGCCGGATCTG -3'
(R):5'- CGTGAGGCTGACGGGGC -3'

Posted On

2020-10-20