Mutagenetix > Incidental Mutations

Incidental Mutation 'R0372:Kbtbd3'

30544

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

038578-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R0372 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4309833-4331732 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4316950 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 34 (I34F)

Ref Sequence

ENSEMBL: ENSMUSP00000148445 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049648
AA Change: I34F

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000050183
Gene: ENSMUSG00000025893
AA Change: I34F

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

possibly damaging
Transcript: ENSMUST00000212221
AA Change: I34F

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.0688

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.2%
20x: 88.6%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	T	A	14: 63,973,482	Q99L	probably damaging	Het
Abca2	A	G	2: 25,437,353	Y641C	probably damaging	Het
Abhd10	A	G	16: 45,736,891		probably null	Het
Acan	G	T	7: 79,100,601	A1707S	probably benign	Het
Ankrd61	T	A	5: 143,891,175	R284S	probably benign	Het
Ap3d1	T	C	10: 80,723,567	K258E	probably damaging	Het
Arl6ip6	T	G	2: 53,202,921	F153V	probably damaging	Het
Atp2c2	C	A	8: 119,757,441	F930L	probably benign	Het
Avl9	T	C	6: 56,726,324		probably null	Het
Axin2	A	G	11: 108,923,333	S16G	probably damaging	Het
Axin2	T	A	11: 108,924,110		probably benign	Het
Bbs7	A	T	3: 36,602,832	D282E	probably benign	Het
Ccny	A	T	18: 9,345,201	V191D	probably damaging	Het
Cdk11b	A	G	4: 155,641,500		probably benign	Het
Chd1	T	A	17: 17,387,290	C367S	probably benign	Het
Cnnm4	G	A	1: 36,498,010	V472M	probably damaging	Het
Cpb2	T	A	14: 75,242,377	I8N	probably benign	Het
Dusp11	A	G	6: 85,958,730		probably benign	Het
Elmo1	T	C	13: 20,572,459		probably null	Het
Gbf1	C	T	19: 46,285,704	P1726S	probably benign	Het
Hal	A	G	10: 93,507,553		probably benign	Het
Hlcs	T	C	16: 94,138,907	I671V	possibly damaging	Het
Ifnab	A	G	4: 88,690,834	S132P	probably benign	Het
Ing5	T	C	1: 93,812,420	I70T	probably damaging	Het
Ints1	T	C	5: 139,772,438	N228S	probably damaging	Het
Itgb6	T	A	2: 60,627,841	I523F	probably benign	Het
Kat2b	T	C	17: 53,638,537	F328S	possibly damaging	Het
Klhl11	A	T	11: 100,463,522	I491N	probably damaging	Het
Lmo7	A	T	14: 101,918,053		probably benign	Het
Lrp1	G	T	10: 127,592,136	P523T	probably damaging	Het
Lrp1b	T	A	2: 40,730,798	D3556V	probably benign	Het
Lrp2	T	A	2: 69,535,043	H262L	probably benign	Het
Lrrc27	T	A	7: 139,226,187	I256K	probably benign	Het
Lrrc47	G	A	4: 154,019,632	R523K	probably benign	Het
Lrrc71	A	T	3: 87,745,777	S111T	probably benign	Het
Map3k7cl	T	C	16: 87,581,212	V72A	probably damaging	Het
Mphosph10	G	T	7: 64,388,855		probably benign	Het
Nlrp4a	T	C	7: 26,449,232		probably benign	Het
Nsd2	A	T	5: 33,891,551	M1140L	probably damaging	Het
Nt5dc3	T	C	10: 86,825,291	M440T	possibly damaging	Het
Olfr183	T	C	16: 59,000,087	V134A	probably benign	Het
Oog4	A	T	4: 143,437,689	L424Q	probably damaging	Het
Orc5	A	T	5: 22,533,784	Y160N	possibly damaging	Het
Papola	T	C	12: 105,818,838	F410L	probably benign	Het
Pcdh10	A	G	3: 45,379,497	E82G	probably damaging	Het
Pcdh20	T	C	14: 88,469,003	Y287C	probably damaging	Het
Pld1	T	A	3: 28,088,638		probably null	Het
Plekha8	G	A	6: 54,616,758		probably null	Het
Ppbp	C	T	5: 90,769,343	T93M	possibly damaging	Het
Prpsap2	A	G	11: 61,741,000	I177T	possibly damaging	Het
Rab3gap2	C	T	1: 185,262,694	T810M	possibly damaging	Het
Rassf9	A	G	10: 102,546,011	N418S	possibly damaging	Het
Rnf20	C	G	4: 49,650,176	R582G	possibly damaging	Het
Serpine2	T	C	1: 79,821,430	I36V	probably damaging	Het
Sf3b2	C	T	19: 5,274,824	D845N	probably damaging	Het
Slc24a2	A	T	4: 87,227,292	V175E	probably damaging	Het
Sned1	T	C	1: 93,285,951		probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Spg11	GCC	G	2: 122,059,447		probably null	Het
Tecrl	C	T	5: 83,294,659	C189Y	probably damaging	Het
Tert	A	G	13: 73,648,991	D1116G	probably damaging	Het
Thnsl2	T	C	6: 71,139,790	Y126C	probably damaging	Het
Tll2	T	C	19: 41,183,313		probably null	Het
Ubqln4	C	T	3: 88,555,969	S147L	probably benign	Het
Ugt2b5	A	T	5: 87,140,258	C17S	probably benign	Het
Vps41	A	T	13: 18,842,247	Q505L	probably benign	Het
Zfp386	T	C	12: 116,054,816	M35T	possibly damaging	Het
Zfp777	T	C	6: 48,044,476	M71V	possibly damaging	Het
Zfp938	A	T	10: 82,227,828	L34Q	probably damaging	Het
Zfp974	A	T	7: 27,920,695		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- ACCTGATAAGTTATGTTGCCAGAGGTCA -3'
(R):5'- AGACTGTTCTTTTCAAGCAACTGTGTGT -3'

Sequencing Primer
(F):5'- TGTTGCCAGAGGTCAAATTAAATC -3'
(R):5'- CATGCTCAGGGGGCAATG -3'

Posted On

2013-04-24