Mutagenetix > Incidental Mutations

Incidental Mutation 'R4276:Kbtbd8'

322699

Institutional Source

Beutler Lab

Gene Symbol

Kbtbd8

Ensembl Gene

ENSMUSG00000030031

Gene Name

kelch repeat and BTB (POZ) domain containing 8

Synonyms

SSEC 51, SSEC51, Takrp, SSEC-51

MMRRC Submission

041647-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.358) question?

Stock #

R4276 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95117240-95129790 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95126933 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 521 (V521A)

Ref Sequence

ENSEMBL: ENSMUSP00000113739 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032107] [ENSMUST00000119582]

Predicted Effect

probably damaging
Transcript: ENSMUST00000032107
AA Change: V598A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032107
Gene: ENSMUSG00000030031
AA Change: V598A

Domain	Start	End	E-Value	Type
BTB	49	147	7.37e-28	SMART
BACK	152	254	1.37e-26	SMART
Kelch	334	388	2.63e-3	SMART
Kelch	389	439	6.13e-4	SMART
Kelch	480	530	5.06e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000119582
AA Change: V521A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113739
Gene: ENSMUSG00000030031
AA Change: V521A

Domain	Start	End	E-Value	Type
Pfam:BTB	1	70	5.1e-14	PFAM
BACK	75	177	1.37e-26	SMART
Kelch	257	311	2.63e-3	SMART
Kelch	312	362	6.13e-4	SMART
Blast:Kelch	364	402	4e-18	BLAST
Kelch	403	453	5.06e0	SMART

Meta Mutation Damage Score

0.2573

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	C	A	9: 26,978,449	Q316H	probably null	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899		probably benign	Het
Brix1	T	C	15: 10,481,747	D101G	possibly damaging	Het
Cfap36	A	G	11: 29,230,584		probably null	Het
Chrnb3	A	G	8: 27,393,751	N172S	probably damaging	Het
Csnk1e	T	C	15: 79,429,767	N37S	probably damaging	Het
Ern1	T	C	11: 106,407,181	I705V	probably benign	Het
Gimap8	T	C	6: 48,659,083	M594T	probably benign	Het
Gm6578	G	A	6: 12,100,188		noncoding transcript	Het
Gpc6	A	G	14: 117,435,916	D195G	probably damaging	Het
Gpcpd1	T	C	2: 132,540,287	K412E	probably damaging	Het
Insm1	C	A	2: 146,222,968	H235N	probably benign	Het
Jmjd8	A	G	17: 25,829,813		probably benign	Het
Kcna5	T	C	6: 126,533,366	T600A	probably damaging	Het
Kctd6	G	C	14: 8,222,806	R216P	probably damaging	Het
Lbx1	C	A	19: 45,235,089	V47L	probably benign	Het
Mefv	A	T	16: 3,715,569	N279K	probably benign	Het
Mroh1	T	G	15: 76,393,851	V24G	probably damaging	Het
Nt5c1b	A	G	12: 10,374,886	E142G	probably damaging	Het
Olfr1038-ps	G	A	2: 86,122,279	A119T	probably damaging	Het
Olfr1289	G	T	2: 111,483,504	V25L	probably damaging	Het
Padi2	A	G	4: 140,936,548	E404G	possibly damaging	Het
Pitpnb	A	G	5: 111,371,392		probably null	Het
Plxna4	T	C	6: 32,200,948	N1006S	probably benign	Het
Proc	A	G	18: 32,135,914	V6A	probably benign	Het
Prrc2c	T	A	1: 162,673,591	K1214N	probably damaging	Het
Pstpip2	A	G	18: 77,861,856	I122V	probably benign	Het
Pus10	A	G	11: 23,706,895	E207G	probably damaging	Het
Rabl2	G	A	15: 89,584,188		probably benign	Het
Rbp3	G	A	14: 33,958,650	V1070I	probably benign	Het
Rtl6	T	A	15: 84,557,196		probably benign	Het
Scn7a	T	G	2: 66,684,063	K1122N	probably damaging	Het
Spag16	A	G	1: 69,873,481		probably benign	Het
Spata13	C	T	14: 60,756,296	R396C	probably damaging	Het
Stmn4	A	T	14: 66,355,717		probably benign	Het
Syp	G	T	X: 7,638,692		probably benign	Het
Tmem260	C	T	14: 48,477,636	T249M	probably damaging	Het
Tnrc6b	A	G	15: 80,901,971	I1239V	probably benign	Het
Ubr3	C	T	2: 69,938,387	Q510*	probably null	Het
Vegfa	A	G	17: 46,031,466	V142A	probably benign	Het
Vmn2r93	T	C	17: 18,304,830	I250T	possibly damaging	Het

Other mutations in Kbtbd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00594:Kbtbd8	APN	6	95126513	missense	probably damaging	1.00
IGL01382:Kbtbd8	APN	6	95122230	missense	probably damaging	1.00
IGL01459:Kbtbd8	APN	6	95122808	missense	probably benign	0.10
IGL01656:Kbtbd8	APN	6	95118676	missense	probably benign	0.02
IGL02100:Kbtbd8	APN	6	95122682	missense	probably damaging	1.00
IGL02133:Kbtbd8	APN	6	95121732	splice site	probably benign
IGL02532:Kbtbd8	APN	6	95126536	missense	probably benign	0.17
IGL02982:Kbtbd8	APN	6	95126566	missense	probably benign	0.01
IGL03074:Kbtbd8	APN	6	95122352	missense	probably damaging	0.99
R0782:Kbtbd8	UTSW	6	95122232	missense	probably damaging	1.00
R2075:Kbtbd8	UTSW	6	95126683	missense	possibly damaging	0.47
R2329:Kbtbd8	UTSW	6	95126780	missense	probably benign	0.00
R2698:Kbtbd8	UTSW	6	95126589	nonsense	probably null
R3906:Kbtbd8	UTSW	6	95126584	missense	probably damaging	1.00
R4915:Kbtbd8	UTSW	6	95126534	missense	possibly damaging	0.95
R5141:Kbtbd8	UTSW	6	95121839	missense	probably damaging	1.00
R5294:Kbtbd8	UTSW	6	95121832	nonsense	probably null
R5779:Kbtbd8	UTSW	6	95118534	missense	probably benign
R6645:Kbtbd8	UTSW	6	95126749	nonsense	probably null
R7073:Kbtbd8	UTSW	6	95121833	missense	probably damaging	1.00
R7161:Kbtbd8	UTSW	6	95126696	missense	probably benign	0.30
R7600:Kbtbd8	UTSW	6	95122592	missense	probably damaging	1.00
R7731:Kbtbd8	UTSW	6	95118578	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCGAGCTACTCAAGTGACTG -3'
(R):5'- AAATGCTGATAACCGCACTTTG -3'

Sequencing Primer
(F):5'- GCTACTCAAGTGACTGTTGAAG -3'
(R):5'- CCTTTCCTGACTGAACTGAAAATATC -3'

Posted On

2015-06-20