Mutagenetix > Incidental Mutations

Incidental Mutation 'R4482:Kbtbd3'

331465

Institutional Source

Beutler Lab

Gene Symbol

Kbtbd3

Ensembl Gene

ENSMUSG00000025893

Gene Name

kelch repeat and BTB (POZ) domain containing 3

Synonyms

Bklhd3, 2200003A07Rik

MMRRC Submission

041738-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R4482 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4309833-4331732 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4331051 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 475 (Y475F)

Ref Sequence

ENSEMBL: ENSMUSP00000148445 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000049648
AA Change: Y475F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050183
Gene: ENSMUSG00000025893
AA Change: Y475F

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 damaging
Transcript: ENSMUST00000212221
AA Change: Y475F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	A	G	11: 3,895,008	V27A	possibly damaging	Het
Actn3	A	T	19: 4,863,408		probably null	Het
Adamts20	T	C	15: 94,345,920	Y642C	probably damaging	Het
Ankrd11	T	C	8: 122,893,489	D1187G	probably damaging	Het
Bag4	T	C	8: 25,785,044		probably benign	Het
Bsn	C	A	9: 108,114,664	K1296N	probably damaging	Het
Cct5	T	C	15: 31,597,569	D58G	probably damaging	Het
Cyp4a10	T	C	4: 115,532,598	F467L	probably damaging	Het
Dicer1	A	G	12: 104,706,277	Y904H	probably damaging	Het
Fam160a2	A	T	7: 105,389,674	F119L	probably benign	Het
Fbn1	A	T	2: 125,363,610		probably null	Het
Git1	T	A	11: 77,500,507	Y189N	possibly damaging	Het
Gm732	T	A	X: 107,946,631	L225F	possibly damaging	Het
Homer3	G	A	8: 70,290,143		probably null	Het
Itga6	T	A	2: 71,855,915	I1059N	probably damaging	Het
Kalrn	C	T	16: 33,989,810	D2525N	possibly damaging	Het
Map3k6	T	C	4: 133,243,399	I199T	probably benign	Het
Mtmr7	T	C	8: 40,554,384	M503V	probably benign	Het
Muc4	A	G	16: 32,756,701	T2192A	unknown	Het
Nexn	T	C	3: 152,242,753	E391G	probably damaging	Het
Olfr190	G	T	16: 59,074,923	H52Q	probably benign	Het
Parg	A	G	14: 32,262,774	I254V	probably damaging	Het
Plxna2	C	T	1: 194,749,317	S538F	probably damaging	Het
Pomt2	G	A	12: 87,131,830	P290S	probably benign	Het
Rasl10a	T	A	11: 5,058,429	Y42N	probably damaging	Het
Slc4a8	C	A	15: 100,810,599	F871L	probably damaging	Het
Tdrd9	T	C	12: 112,014,501		probably null	Het
Trim21	G	A	7: 102,563,933	Q53*	probably null	Het
Triobp	T	C	15: 78,966,563	S306P	possibly damaging	Het
Vasn	A	T	16: 4,648,326	T46S	possibly damaging	Het
Zfp236	A	T	18: 82,644,221	F529Y	probably benign	Het

Other mutations in Kbtbd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00642:Kbtbd3	APN	9	4330169	missense	probably benign
IGL00674:Kbtbd3	APN	9	4329949	missense	probably benign	0.05
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
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

Predicted Primers

PCR Primer
(F):5'- GGGTCCCAGGACATTAAAAGTC -3'
(R):5'- TCAATTCCAATTGCACCTGC -3'

Sequencing Primer
(F):5'- GTCCCAGGACATTAAAAGTCTCTTAG -3'
(R):5'- GCACCTGCATTAAAACCTGC -3'

Posted On

2015-07-21