Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02982:Kbtbd8'

406591

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

Essential gene?

Probably non essential (E-score: 0.230) question?

Stock #

IGL02982

Quality Score

Status

Chromosome

Chromosomal Location

95117240-95129790 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 95126566 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 399 (V399L)

Ref Sequence

ENSEMBL: ENSMUSP00000113739 (fasta)

Gene Model

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

AlphaFold

Q3UQV5

Predicted Effect

probably benign
Transcript: ENSMUST00000032107
AA Change: V476L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000032107
Gene: ENSMUSG00000030031
AA Change: V476L

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
AA Change: V399L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000113739
Gene: ENSMUSG00000030031
AA Change: V399L

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: ENSMUST00000145387

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	G	T	8: 24,804,431	A384D	probably benign	Het
Adamts19	T	A	18: 59,024,518	C961S	probably damaging	Het
Agbl2	G	A	2: 90,805,815	C565Y	probably damaging	Het
Aox3	G	A	1: 58,127,687	E190K	probably benign	Het
Arf2	T	G	11: 103,981,776	D74E	probably damaging	Het
Bptf	T	G	11: 107,076,674	D960A	probably damaging	Het
Ccdc180	G	T	4: 45,903,840		probably benign	Het
Ces1a	A	G	8: 93,044,975	F65L	probably damaging	Het
Def8	T	C	8: 123,456,539		probably benign	Het
Fat4	T	C	3: 38,890,843	L1295P	probably damaging	Het
Filip1l	A	G	16: 57,572,232	H1061R	probably damaging	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gldc	A	G	19: 30,145,145		probably null	Het
Gm597	T	C	1: 28,778,054	H299R	probably damaging	Het
Golgb1	A	C	16: 36,925,810	D2917A	probably damaging	Het
Gpc5	G	A	14: 115,369,988	C334Y	probably damaging	Het
Gpsm1	T	A	2: 26,324,859	L252Q	probably damaging	Het
Iars	C	T	13: 49,709,709	R546C	probably benign	Het
Kcnd2	A	T	6: 21,217,149	D284V	probably damaging	Het
Kcnj6	T	C	16: 94,832,517	K227R	possibly damaging	Het
Lhx9	A	T	1: 138,838,611	H155Q	probably damaging	Het
Mcm9	A	G	10: 53,625,826	V221A	probably damaging	Het
Myo9a	A	T	9: 59,908,208	K2237*	probably null	Het
Ntf3	A	T	6: 126,102,377	D55E	probably damaging	Het
Olfr1229	G	T	2: 89,283,109	T29K	probably damaging	Het
Olfr61	A	T	7: 140,637,952	I84F	probably benign	Het
Plek	T	A	11: 16,981,826	I342F	probably damaging	Het
Polrmt	A	G	10: 79,738,348	Y853H	probably damaging	Het
Psg29	A	G	7: 17,211,707	T401A	probably damaging	Het
Ptprb	A	G	10: 116,322,628	T822A	probably benign	Het
Ptprq	A	C	10: 107,586,684	F1616V	probably damaging	Het
Rpe65	T	A	3: 159,600,361	V19E	probably damaging	Het
Scamp2	G	A	9: 57,581,549	A178T	probably benign	Het
Spta1	A	G	1: 174,187,288	I445V	probably benign	Het
Tas2r135	A	G	6: 42,406,253	E242G	probably benign	Het
Ttc22	T	C	4: 106,638,586	V379A	probably damaging	Het
Unc5d	C	T	8: 28,652,853	G857E	probably damaging	Het
Usp28	A	G	9: 49,018,439	I43V	probably benign	Het
Vmn2r68	A	T	7: 85,234,441	M152K	probably benign	Het
Wrn	C	T	8: 33,343,066	G133R	probably damaging	Het
Zfyve26	G	A	12: 79,263,870	T187M	probably damaging	Het
Zic2	A	G	14: 122,478,567	E367G	probably 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
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

2016-08-02