Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00674:Kbtbd3'

11540

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

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

IGL00674

Quality Score

Status

Chromosome

Chromosomal Location

4309833-4331732 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4329949 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 108 (T108A)

Ref Sequence

ENSEMBL: ENSMUSP00000148445 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000049648
AA Change: T108A

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000050183
Gene: ENSMUSG00000025893
AA Change: T108A

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: T108A

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atad2	T	A	15: 58,108,386	Q365L	possibly damaging	Het
Cd2ap	A	T	17: 42,808,785	N492K	probably benign	Het
Fam114a1	T	A	5: 64,980,004	S97T	probably benign	Het
Fbxw8	C	T	5: 118,095,593	M324I	possibly damaging	Het
Gpx6	A	G	13: 21,313,808		probably benign	Het
Lrrd1	T	C	5: 3,849,773	I26T	possibly damaging	Het
Mark1	C	T	1: 184,912,106	G454S	probably benign	Het
Mrpl20	T	C	4: 155,808,584	F91L	probably benign	Het
Nt5c3b	A	T	11: 100,432,909		probably benign	Het
Osbpl2	T	C	2: 180,150,258	Y252H	possibly damaging	Het
Pard3	A	G	8: 127,388,678	N626D	probably damaging	Het
Pbrm1	C	T	14: 31,118,776	P1612S	probably damaging	Het
Prl3d3	T	C	13: 27,159,131		probably null	Het
Sall4	T	C	2: 168,755,780	D380G	probably damaging	Het
Sema3b	A	C	9: 107,604,041		probably null	Het
Spred1	C	T	2: 117,177,858	P415L	probably damaging	Het
Tnc	T	A	4: 63,965,607	D1958V	probably damaging	Het
Tnfsf15	A	G	4: 63,734,246		probably benign	Het
Usp24	T	A	4: 106,372,679		probably benign	Het

Other mutations in Kbtbd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00642:Kbtbd3	APN	9	4330169	missense	probably benign
IGL00848:Kbtbd3	APN	9	4331184	missense	probably damaging	1.00
IGL01949:Kbtbd3	APN	9	4331066	missense	possibly damaging	0.95
IGL02619:Kbtbd3	APN	9	4331252	missense	probably damaging	1.00
IGL02830:Kbtbd3	APN	9	4330096	missense	possibly damaging	0.95
IGL02894:Kbtbd3	APN	9	4331444	missense	probably benign	0.05
R0239:Kbtbd3	UTSW	9	4330144	missense	possibly damaging	0.62
R0239:Kbtbd3	UTSW	9	4330144	missense	possibly damaging	0.62
R0348:Kbtbd3	UTSW	9	4330519	missense	possibly damaging	0.94
R0372:Kbtbd3	UTSW	9	4316950	missense	possibly damaging	0.75
R0380:Kbtbd3	UTSW	9	4330545	nonsense	probably null
R0644:Kbtbd3	UTSW	9	4329868	missense	probably damaging	1.00
R1496:Kbtbd3	UTSW	9	4330276	missense	probably benign
R1651:Kbtbd3	UTSW	9	4330589	missense	possibly damaging	0.62
R1707:Kbtbd3	UTSW	9	4316985	missense	probably benign	0.01
R1998:Kbtbd3	UTSW	9	4330760	missense	probably benign	0.01
R2012:Kbtbd3	UTSW	9	4330919	missense	probably benign
R2027:Kbtbd3	UTSW	9	4317075	splice site	probably benign
R3717:Kbtbd3	UTSW	9	4330598	missense	probably benign
R4463:Kbtbd3	UTSW	9	4331257	missense	probably damaging	0.99
R4482:Kbtbd3	UTSW	9	4331051	missense	probably damaging	1.00
R4795:Kbtbd3	UTSW	9	4331073	nonsense	probably null
R5195:Kbtbd3	UTSW	9	4316905	missense	possibly damaging	0.74
R5645:Kbtbd3	UTSW	9	4331426	missense	possibly damaging	0.92
R5753:Kbtbd3	UTSW	9	4331404	missense	possibly damaging	0.74
R5898:Kbtbd3	UTSW	9	4330476	missense	probably damaging	0.97
R6463:Kbtbd3	UTSW	9	4316921	missense	probably benign
R6681:Kbtbd3	UTSW	9	4330687	missense	probably benign	0.00
R7284:Kbtbd3	UTSW	9	4330690	nonsense	probably null
R7390:Kbtbd3	UTSW	9	4330424	missense	probably benign	0.27
R7735:Kbtbd3	UTSW	9	4330846	missense	possibly damaging	0.89
R7793:Kbtbd3	UTSW	9	4331221	missense	probably damaging	1.00
R7950:Kbtbd3	UTSW	9	4316878	nonsense	probably null
R8005:Kbtbd3	UTSW	9	4330655	missense	probably damaging	1.00
R8050:Kbtbd3	UTSW	9	4330408	missense	probably benign	0.43
R8213:Kbtbd3	UTSW	9	4331269	missense	probably damaging	0.99
X0024:Kbtbd3	UTSW	9	4331437	missense	probably benign	0.00

Posted On

2012-12-06