Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01735:Kbtbd6'

105660

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kbtbd6

Ensembl Gene

ENSMUSG00000075502

Gene Name

kelch repeat and BTB (POZ) domain containing 6

Synonyms

Gm5465

Accession Numbers

Essential gene?

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

Stock #

IGL01735

Quality Score

Status

Chromosome

Chromosomal Location

79689275-79692256 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79690889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 465 (V465A)

Ref Sequence

ENSEMBL: ENSMUSP00000154099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100359] [ENSMUST00000226192]

AlphaFold

E9PYD7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100359
AA Change: V528A

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097929
Gene: ENSMUSG00000075502
AA Change: V528A

Domain	Start	End	E-Value	Type
low complexity region	51	60	N/A	INTRINSIC
Blast:BTB	74	107	3e-11	BLAST
BTB	126	231	1.05e-23	SMART
BACK	236	342	7.58e-20	SMART
low complexity region	380	395	N/A	INTRINSIC
SCOP:d1k3ia3	475	541	2e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000226192
AA Change: V465A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy3	A	T	12: 4,251,213 (GRCm39)	M612L	probably benign	Het
Adhfe1	C	A	1: 9,618,373 (GRCm39)	T19K	possibly damaging	Het
Atxn1	C	T	13: 45,720,198 (GRCm39)	V566M	probably damaging	Het
Bag6	T	C	17: 35,364,737 (GRCm39)		probably benign	Het
Cdkl1	T	G	12: 69,797,514 (GRCm39)	Y258S	probably benign	Het
Chil6	A	T	3: 106,296,004 (GRCm39)		probably null	Het
Clcn7	T	C	17: 25,370,090 (GRCm39)	F326L	probably benign	Het
Cngb3	A	G	4: 19,415,648 (GRCm39)	Y386C	probably damaging	Het
Dnah6	C	A	6: 73,053,643 (GRCm39)	E2916*	probably null	Het
Dnhd1	A	G	7: 105,362,961 (GRCm39)	E3841G	probably benign	Het
Fat1	G	T	8: 45,489,276 (GRCm39)	V3493L	probably benign	Het
Irx5	A	T	8: 93,087,331 (GRCm39)	H421L	probably damaging	Het
Kcp	T	A	6: 29,498,878 (GRCm39)	N340I	probably damaging	Het
Klhdc2	A	G	12: 69,347,053 (GRCm39)	M73V	probably benign	Het
Lpar1	A	G	4: 58,437,407 (GRCm39)	S341P	probably damaging	Het
Lrba	G	A	3: 86,234,968 (GRCm39)	V838I	probably benign	Het
Med12l	A	G	3: 59,170,675 (GRCm39)	I1652V	probably damaging	Het
Myo5c	A	T	9: 75,208,720 (GRCm39)	D1677V	probably damaging	Het
Ncoa2	A	T	1: 13,235,127 (GRCm39)	N935K	probably benign	Het
Nfrkb	T	C	9: 31,321,435 (GRCm39)	S711P	possibly damaging	Het
Or1j20	C	A	2: 36,759,698 (GRCm39)	T40K	possibly damaging	Het
Or52ae7	T	C	7: 103,119,530 (GRCm39)	F95L	probably damaging	Het
Or5w16	A	G	2: 87,576,650 (GRCm39)	I37V	probably benign	Het
Pramel27	A	G	4: 143,578,401 (GRCm39)	I220M	probably damaging	Het
Prl7d1	A	G	13: 27,898,372 (GRCm39)	F47L	possibly damaging	Het
Ptprd	A	C	4: 76,055,057 (GRCm39)		probably null	Het
Rsph14	C	A	10: 74,860,992 (GRCm39)	G103C	probably damaging	Het
Slco1a4	A	G	6: 141,763,477 (GRCm39)	F413S	probably benign	Het
Slfn9	A	G	11: 82,873,158 (GRCm39)	Y582H	probably damaging	Het
Tcirg1	A	T	19: 3,954,210 (GRCm39)		probably benign	Het
Trac	G	A	14: 54,460,438 (GRCm39)		probably benign	Het
Wbp2nl	G	T	15: 82,198,017 (GRCm39)	V185L	probably benign	Het

Other mutations in Kbtbd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00559:Kbtbd6	APN	14	79,690,688 (GRCm39)	missense	probably damaging	0.97
IGL01348:Kbtbd6	APN	14	79,690,783 (GRCm39)	missense	probably damaging	0.99
IGL02441:Kbtbd6	APN	14	79,690,759 (GRCm39)	missense	probably benign
R0145:Kbtbd6	UTSW	14	79,690,464 (GRCm39)	missense	probably benign	0.06
R0316:Kbtbd6	UTSW	14	79,690,464 (GRCm39)	missense	probably benign	0.06
R0731:Kbtbd6	UTSW	14	79,689,324 (GRCm39)	nonsense	probably null
R1776:Kbtbd6	UTSW	14	79,690,045 (GRCm39)	missense	probably benign	0.23
R4705:Kbtbd6	UTSW	14	79,690,046 (GRCm39)	missense	probably benign	0.01
R4749:Kbtbd6	UTSW	14	79,690,727 (GRCm39)	missense	possibly damaging	0.95
R4772:Kbtbd6	UTSW	14	79,689,596 (GRCm39)	missense	probably damaging	0.99
R4986:Kbtbd6	UTSW	14	79,690,049 (GRCm39)	missense	probably damaging	0.98
R6107:Kbtbd6	UTSW	14	79,690,553 (GRCm39)	missense	probably damaging	0.99
R7346:Kbtbd6	UTSW	14	79,690,627 (GRCm39)	missense	probably damaging	1.00
R9021:Kbtbd6	UTSW	14	79,690,822 (GRCm39)	missense	probably damaging	0.99
R9168:Kbtbd6	UTSW	14	79,690,553 (GRCm39)	missense	possibly damaging	0.62

Posted On

2014-01-21