Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01656:Kbtbd8'

103022

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: 0.246) question?

Stock #

IGL01656

Quality Score

Status

Chromosome

Chromosomal Location

95094861-95106774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95095657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 73 (H73R)

Ref Sequence

ENSEMBL: ENSMUSP00000145009 (fasta)

Gene Model

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

AlphaFold

Q3UQV5

Predicted Effect

probably benign
Transcript: ENSMUST00000032107
AA Change: H57R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032107
Gene: ENSMUSG00000030031
AA Change: H57R

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
AA Change: H73R

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000145009
Gene: ENSMUSG00000030031
AA Change: H73R

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	A	C	6: 125,030,675 (GRCm39)	E232A	possibly damaging	Het
Anapc11	T	A	11: 120,490,173 (GRCm39)	F30I	possibly damaging	Het
Ap5z1	A	G	5: 142,456,069 (GRCm39)	D318G	probably benign	Het
Cfap43	T	C	19: 47,740,339 (GRCm39)	E1278G	possibly damaging	Het
Cylc1	A	G	X: 110,167,485 (GRCm39)	T589A	probably benign	Het
Dcaf15	T	C	8: 84,824,617 (GRCm39)	I527V	probably benign	Het
Ddhd2	C	T	8: 26,217,739 (GRCm39)	V713I	probably benign	Het
Edc4	T	C	8: 106,613,009 (GRCm39)	V283A	possibly damaging	Het
Elf5	A	G	2: 103,273,206 (GRCm39)		probably benign	Het
Flnb	C	T	14: 7,902,010 (GRCm38)		probably benign	Het
Flnc	C	T	6: 29,443,507 (GRCm39)		probably benign	Het
Fstl4	T	C	11: 52,891,201 (GRCm39)	L113P	probably damaging	Het
Gemin4	C	T	11: 76,104,636 (GRCm39)	V42M	probably damaging	Het
Gm10076	A	G	14: 105,919,354 (GRCm39)		noncoding transcript	Het
Grina	A	G	15: 76,132,501 (GRCm39)	Y116C	probably damaging	Het
Hectd4	T	A	5: 121,460,763 (GRCm39)	L914H	probably damaging	Het
Il17re	T	C	6: 113,439,934 (GRCm39)		probably benign	Het
Ivl	G	A	3: 92,478,962 (GRCm39)	Q368*	probably null	Het
Krt90	T	A	15: 101,463,878 (GRCm39)	Q392L	probably damaging	Het
Magea3	A	T	X: 153,732,137 (GRCm39)	M122K	probably damaging	Het
Mapk8ip3	T	C	17: 25,137,003 (GRCm39)	D237G	probably damaging	Het
Nln	T	C	13: 104,198,249 (GRCm39)		probably null	Het
Nlrp4d	T	C	7: 10,098,074 (GRCm39)	Y853C	noncoding transcript	Het
Nol11	T	C	11: 107,079,998 (GRCm39)	D29G	probably benign	Het
Nr3c2	C	T	8: 77,914,166 (GRCm39)	L791F	probably damaging	Het
Nup50l	A	G	6: 96,142,675 (GRCm39)	V123A	possibly damaging	Het
Olfm3	T	C	3: 114,916,282 (GRCm39)	Y385H	probably damaging	Het
Or14j5	C	T	17: 38,162,029 (GRCm39)	P182L	possibly damaging	Het
Or51a8	A	G	7: 102,550,472 (GRCm39)	I299M	possibly damaging	Het
Or5b119	G	A	19: 13,457,454 (GRCm39)	A36V	probably benign	Het
Pklr	G	T	3: 89,052,302 (GRCm39)	G505C	probably damaging	Het
Plxna2	A	G	1: 194,472,469 (GRCm39)	E1071G	possibly damaging	Het
Prkcq	G	T	2: 11,231,766 (GRCm39)	A30S	probably damaging	Het
Rilpl1	A	G	5: 124,641,712 (GRCm39)	F104L	probably damaging	Het
Rsph6a	C	T	7: 18,788,770 (GRCm39)	T34I	probably benign	Het
Sec23ip	C	T	7: 128,351,969 (GRCm39)	P12L	probably damaging	Het
Slc25a21	A	C	12: 56,785,280 (GRCm39)	V199G	probably damaging	Het
Smc1b	T	C	15: 84,998,977 (GRCm39)	E483G	probably damaging	Het
Sucnr1	T	C	3: 59,993,832 (GRCm39)	M120T	possibly damaging	Het
Tas2r116	T	C	6: 132,832,396 (GRCm39)		probably benign	Het
Tbrg4	T	A	11: 6,568,522 (GRCm39)	Q419L	possibly damaging	Het
Tc2n	A	G	12: 101,615,348 (GRCm39)		probably benign	Het
Tgfbr2	A	C	9: 115,938,737 (GRCm39)	S388R	probably damaging	Het
Vmn2r1	A	G	3: 63,989,274 (GRCm39)	E71G	probably damaging	Het
Xpc	A	T	6: 91,482,449 (GRCm39)	I176K	probably damaging	Het
Xylt1	G	T	7: 117,148,228 (GRCm39)	R264L	probably damaging	Het

Other mutations in Kbtbd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00594:Kbtbd8	APN	6	95,103,494 (GRCm39)	missense	probably damaging	1.00
IGL01382:Kbtbd8	APN	6	95,099,211 (GRCm39)	missense	probably damaging	1.00
IGL01459:Kbtbd8	APN	6	95,099,789 (GRCm39)	missense	probably benign	0.10
IGL02100:Kbtbd8	APN	6	95,099,663 (GRCm39)	missense	probably damaging	1.00
IGL02133:Kbtbd8	APN	6	95,098,713 (GRCm39)	splice site	probably benign
IGL02532:Kbtbd8	APN	6	95,103,517 (GRCm39)	missense	probably benign	0.17
IGL02982:Kbtbd8	APN	6	95,103,547 (GRCm39)	missense	probably benign	0.01
IGL03074:Kbtbd8	APN	6	95,099,333 (GRCm39)	missense	probably damaging	0.99
R0782:Kbtbd8	UTSW	6	95,099,213 (GRCm39)	missense	probably damaging	1.00
R2075:Kbtbd8	UTSW	6	95,103,664 (GRCm39)	missense	possibly damaging	0.47
R2329:Kbtbd8	UTSW	6	95,103,761 (GRCm39)	missense	probably benign	0.00
R2698:Kbtbd8	UTSW	6	95,103,570 (GRCm39)	nonsense	probably null
R3906:Kbtbd8	UTSW	6	95,103,565 (GRCm39)	missense	probably damaging	1.00
R4276:Kbtbd8	UTSW	6	95,103,914 (GRCm39)	missense	probably damaging	0.99
R4915:Kbtbd8	UTSW	6	95,103,515 (GRCm39)	missense	possibly damaging	0.95
R5141:Kbtbd8	UTSW	6	95,098,820 (GRCm39)	missense	probably damaging	1.00
R5294:Kbtbd8	UTSW	6	95,098,813 (GRCm39)	nonsense	probably null
R5779:Kbtbd8	UTSW	6	95,095,515 (GRCm39)	missense	probably benign
R6645:Kbtbd8	UTSW	6	95,103,730 (GRCm39)	nonsense	probably null
R7073:Kbtbd8	UTSW	6	95,098,814 (GRCm39)	missense	probably damaging	1.00
R7161:Kbtbd8	UTSW	6	95,103,677 (GRCm39)	missense	probably benign	0.30
R7600:Kbtbd8	UTSW	6	95,099,573 (GRCm39)	missense	probably damaging	1.00
R7731:Kbtbd8	UTSW	6	95,095,559 (GRCm39)	missense	probably benign	0.00
R9156:Kbtbd8	UTSW	6	95,099,825 (GRCm39)	nonsense	probably null
R9617:Kbtbd8	UTSW	6	95,103,874 (GRCm39)	missense	possibly damaging	0.88
R9747:Kbtbd8	UTSW	6	95,098,838 (GRCm39)	missense	possibly damaging	0.62

Posted On

2014-01-21