Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00642:Kbtbd3'

11542

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kbtbd3

Ensembl Gene

ENSMUSG00000025893

Gene Name

kelch repeat and BTB (POZ) domain containing 3

Synonyms

Bklhd3, 2200003A07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

IGL00642

Quality Score

Status

Chromosome

Chromosomal Location

4309833-4331732 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4330169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 181 (Y181F)

Ref Sequence

ENSEMBL: ENSMUSP00000148445 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049648] [ENSMUST00000212221]

AlphaFold

Q8BHI4

Predicted Effect

probably benign
Transcript: ENSMUST00000049648
AA Change: Y181F

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

SMART Domains

Protein: ENSMUSP00000050183
Gene: ENSMUSG00000025893
AA Change: Y181F

Domain	Start	End	E-Value	Type
BTB	48	145	1.83e-23	SMART
BACK	150	252	1.19e-26	SMART
Blast:Kelch	292	338	7e-15	BLAST
Kelch	339	399	2.56e0	SMART
Kelch	400	450	8.67e-4	SMART
Kelch	548	597	3.3e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000212221
AA Change: Y181F

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595M18Rik	T	C	X: 80,464,544 (GRCm39)	R388G	possibly damaging	Het
Akap9	A	G	5: 4,010,842 (GRCm39)	Q533R	probably damaging	Het
Ano4	C	T	10: 88,790,529 (GRCm39)	E892K	probably damaging	Het
Arap2	G	A	5: 62,890,401 (GRCm39)	R347*	probably null	Het
Cdc7	A	G	5: 107,116,726 (GRCm39)	I34V	probably benign	Het
Copb2	T	G	9: 98,461,086 (GRCm39)	L383V	probably damaging	Het
Dhx57	A	G	17: 80,582,405 (GRCm39)	F400S	probably benign	Het
Efr3a	A	G	15: 65,727,266 (GRCm39)	D605G	possibly damaging	Het
Smchd1	T	C	17: 71,697,427 (GRCm39)	E1171G	probably damaging	Het
Tars1	A	G	15: 11,394,458 (GRCm39)	Y60H	probably damaging	Het

Other mutations in Kbtbd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00674:Kbtbd3	APN	9	4,329,949 (GRCm39)	missense	probably benign	0.05
IGL00848:Kbtbd3	APN	9	4,331,184 (GRCm39)	missense	probably damaging	1.00
IGL01949:Kbtbd3	APN	9	4,331,066 (GRCm39)	missense	possibly damaging	0.95
IGL02619:Kbtbd3	APN	9	4,331,252 (GRCm39)	missense	probably damaging	1.00
IGL02830:Kbtbd3	APN	9	4,330,096 (GRCm39)	missense	possibly damaging	0.95
IGL02894:Kbtbd3	APN	9	4,331,444 (GRCm39)	missense	probably benign	0.05
R0239:Kbtbd3	UTSW	9	4,330,144 (GRCm39)	missense	possibly damaging	0.62
R0239:Kbtbd3	UTSW	9	4,330,144 (GRCm39)	missense	possibly damaging	0.62
R0348:Kbtbd3	UTSW	9	4,330,519 (GRCm39)	missense	possibly damaging	0.94
R0372:Kbtbd3	UTSW	9	4,316,950 (GRCm39)	missense	possibly damaging	0.75
R0380:Kbtbd3	UTSW	9	4,330,545 (GRCm39)	nonsense	probably null
R0644:Kbtbd3	UTSW	9	4,329,868 (GRCm39)	missense	probably damaging	1.00
R1496:Kbtbd3	UTSW	9	4,330,276 (GRCm39)	missense	probably benign
R1651:Kbtbd3	UTSW	9	4,330,589 (GRCm39)	missense	possibly damaging	0.62
R1707:Kbtbd3	UTSW	9	4,316,985 (GRCm39)	missense	probably benign	0.01
R1998:Kbtbd3	UTSW	9	4,330,760 (GRCm39)	missense	probably benign	0.01
R2012:Kbtbd3	UTSW	9	4,330,919 (GRCm39)	missense	probably benign
R2027:Kbtbd3	UTSW	9	4,317,075 (GRCm39)	splice site	probably benign
R3717:Kbtbd3	UTSW	9	4,330,598 (GRCm39)	missense	probably benign
R4463:Kbtbd3	UTSW	9	4,331,257 (GRCm39)	missense	probably damaging	0.99
R4482:Kbtbd3	UTSW	9	4,331,051 (GRCm39)	missense	probably damaging	1.00
R4795:Kbtbd3	UTSW	9	4,331,073 (GRCm39)	nonsense	probably null
R5195:Kbtbd3	UTSW	9	4,316,905 (GRCm39)	missense	possibly damaging	0.74
R5645:Kbtbd3	UTSW	9	4,331,426 (GRCm39)	missense	possibly damaging	0.92
R5753:Kbtbd3	UTSW	9	4,331,404 (GRCm39)	missense	possibly damaging	0.74
R5898:Kbtbd3	UTSW	9	4,330,476 (GRCm39)	missense	probably damaging	0.97
R6463:Kbtbd3	UTSW	9	4,316,921 (GRCm39)	missense	probably benign
R6681:Kbtbd3	UTSW	9	4,330,687 (GRCm39)	missense	probably benign	0.00
R7284:Kbtbd3	UTSW	9	4,330,690 (GRCm39)	nonsense	probably null
R7390:Kbtbd3	UTSW	9	4,330,424 (GRCm39)	missense	probably benign	0.27
R7735:Kbtbd3	UTSW	9	4,330,846 (GRCm39)	missense	possibly damaging	0.89
R7793:Kbtbd3	UTSW	9	4,331,221 (GRCm39)	missense	probably damaging	1.00
R7950:Kbtbd3	UTSW	9	4,316,878 (GRCm39)	nonsense	probably null
R8005:Kbtbd3	UTSW	9	4,330,655 (GRCm39)	missense	probably damaging	1.00
R8050:Kbtbd3	UTSW	9	4,330,408 (GRCm39)	missense	probably benign	0.43
R8213:Kbtbd3	UTSW	9	4,331,269 (GRCm39)	missense	probably damaging	0.99
R9163:Kbtbd3	UTSW	9	4,330,584 (GRCm39)	missense	probably benign	0.30
X0024:Kbtbd3	UTSW	9	4,331,437 (GRCm39)	missense	probably benign	0.00

Posted On

2012-12-06