Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02133:Kbtbd8'

281090

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kbtbd8

Ensembl Gene

ENSMUSG00000030031

Gene Name

kelch repeat and BTB (POZ) domain containing 8

Synonyms

SSEC 51, SSEC51, Takrp, SSEC-51

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

IGL02133

Quality Score

Status

Chromosome

Chromosomal Location

95117240-95129790 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 95121732 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145009 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032107] [ENSMUST00000119582] [ENSMUST00000122938]

AlphaFold

Q3UQV5

Predicted Effect

probably benign
Transcript: ENSMUST00000032107

SMART Domains

Protein: ENSMUSP00000032107
Gene: ENSMUSG00000030031

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 benign
Transcript: ENSMUST00000119582

SMART Domains

Protein: ENSMUSP00000113739
Gene: ENSMUSG00000030031

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

Predicted Effect

probably benign
Transcript: ENSMUST00000122938

SMART Domains

Protein: ENSMUSP00000145009
Gene: ENSMUSG00000030031

Domain	Start	End	E-Value	Type
BTB	65	142	1.4e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145387

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	T	A	14: 49,232,967	Q165L	probably benign	Het
9530068E07Rik	G	T	11: 52,403,510	A193S	probably damaging	Het
Adam4	A	G	12: 81,420,029	V606A	probably benign	Het
Atp2c2	A	G	8: 119,754,335	I821V	probably benign	Het
Bmi1	A	T	2: 18,683,677	R160W	probably damaging	Het
Ccdc88c	G	A	12: 100,940,090	R1062C	probably damaging	Het
Cntnap3	A	T	13: 64,751,673		probably benign	Het
Col20a1	C	T	2: 181,007,144	T940I	probably damaging	Het
Csmd3	A	C	15: 47,857,942	M1535R	possibly damaging	Het
Dhx38	C	A	8: 109,558,241	E487*	probably null	Het
Fam186b	A	G	15: 99,273,703	S888P	probably damaging	Het
Fancm	G	A	12: 65,106,475	G1235D	probably benign	Het
Grin3a	C	T	4: 49,792,946	W262*	probably null	Het
Gtdc1	A	T	2: 44,575,443	M305K	probably damaging	Het
H2-M9	T	C	17: 36,641,737	E139G	possibly damaging	Het
Haus1	A	T	18: 77,766,911	L53Q	probably damaging	Het
Hgfac	A	G	5: 35,046,587	Y483C	probably damaging	Het
Hipk2	C	T	6: 38,819,134	V67I	probably benign	Het
Kndc1	A	G	7: 139,920,767	T683A	probably benign	Het
Ldhb	A	T	6: 142,492,500	M277K	probably benign	Het
Mgam	T	C	6: 40,643,076	L33P	probably damaging	Het
Ndst1	A	G	18: 60,699,546	F571L	probably benign	Het
Neb	G	T	2: 52,212,804		probably null	Het
Nrxn1	A	G	17: 90,643,243	S503P	probably damaging	Het
Paqr3	A	G	5: 97,095,931	V308A	probably benign	Het
Scnn1g	T	C	7: 121,743,699	F292L	probably damaging	Het
Stk3	A	G	15: 35,099,516	F88S	probably damaging	Het
Tcaf2	T	A	6: 42,627,396	E683V	probably benign	Het
Tprkb	T	C	6: 85,927,911	V123A	probably benign	Het
Ush2a	T	C	1: 188,443,343	Y1213H	probably damaging	Het
Vwa5b1	A	G	4: 138,586,557		probably null	Het
Wls	A	G	3: 159,897,370	Y140C	probably damaging	Het
Zan	A	G	5: 137,411,498	S28P	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
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
R4276:Kbtbd8	UTSW	6	95126933	missense	probably damaging	0.99
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
R9156:Kbtbd8	UTSW	6	95122844	nonsense	probably null
R9617:Kbtbd8	UTSW	6	95126893	missense	possibly damaging	0.88
R9747:Kbtbd8	UTSW	6	95121857	missense	possibly damaging	0.62

Posted On

2015-04-16