Mutagenetix > Incidental Mutations

Incidental Mutation 'R6463:Kbtbd3'

517691

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.214) question?

Stock #

R6463 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4309833-4331732 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4316921 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 24 (Y24C)

Ref Sequence

ENSEMBL: ENSMUSP00000148445 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000049648
AA Change: Y24C

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

SMART Domains

Protein: ENSMUSP00000050183
Gene: ENSMUSG00000025893
AA Change: Y24C

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: Y24C

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 97.8%
20x: 92.4%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	T	4: 39,450,938	H48L	probably damaging	Het
Aifm3	A	G	16: 17,500,789	I185V	probably benign	Het
Asb7	A	T	7: 66,660,236	D77E	probably damaging	Het
Cacna1i	T	C	15: 80,355,758	I336T	probably damaging	Het
Cadps2	A	T	6: 23,323,334	L1016*	probably null	Het
Ccdc129	A	G	6: 55,968,678	R795G	probably benign	Het
Cep63	C	A	9: 102,596,155	M504I	probably benign	Het
Chpf2	G	T	5: 24,589,526	L231F	probably damaging	Het
Cnot10	T	C	9: 114,625,902	Y221C	probably damaging	Het
Col3a1	G	A	1: 45,342,205		probably benign	Het
Csl	T	C	10: 99,759,098	D35G	probably damaging	Het
Csmd3	T	C	15: 47,676,479	Y2286C	probably damaging	Het
Dbt	A	G	3: 116,539,760	E293G	possibly damaging	Het
Ddx31	T	A	2: 28,847,513		probably null	Het
Dnm1	T	C	2: 32,309,591		probably benign	Het
Elfn1	A	G	5: 139,972,285	Y348C	probably damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Epha5	T	A	5: 84,106,710	I657F	probably damaging	Het
Fbp1	A	G	13: 62,865,010	F123S	possibly damaging	Het
Hkdc1	T	C	10: 62,393,702	N732S	probably damaging	Het
Itfg1	A	G	8: 85,736,151	S448P	probably benign	Het
Izumo2	A	G	7: 44,709,074	K84R	probably benign	Het
Kif1b	T	C	4: 149,192,596	M1337V	probably benign	Het
Mdn1	T	C	4: 32,773,308	L5489P	probably damaging	Het
Mettl2	G	A	11: 105,132,581		probably null	Het
Mtr	T	C	13: 12,216,866	T651A	probably benign	Het
Naglu	A	G	11: 101,077,351		probably null	Het
Nkx6-1	G	T	5: 101,659,476	H347N	probably damaging	Het
Ntpcr	A	G	8: 125,736,104	E20G	probably benign	Het
Oas2	T	C	5: 120,734,981	R670G	probably null	Het
Olfr1208	T	C	2: 88,897,118	I160V	probably benign	Het
Olfr239	G	A	17: 33,199,638	V197I	probably benign	Het
Olfr698	C	G	7: 106,752,801	E196Q	probably benign	Het
Phldb2	A	C	16: 45,774,993	V902G	probably benign	Het
Rdh7	T	C	10: 127,885,781	R209G	probably benign	Het
Slc13a3	A	C	2: 165,445,653	L127R	probably damaging	Het
Slc6a20b	T	A	9: 123,604,949	I275F	possibly damaging	Het
St3gal1	A	G	15: 67,111,346	V187A	possibly damaging	Het
Tmx4	T	C	2: 134,620,639	Y124C	probably damaging	Het
Trh	A	T	6: 92,242,843	M164K	possibly damaging	Het
Trhr	A	G	15: 44,197,585	N167S	probably benign	Het
Ttll7	G	A	3: 146,931,582	R490Q	possibly damaging	Het
Uck1	T	C	2: 32,258,655	N100S	probably benign	Het
Ucp3	A	T	7: 100,480,269	T104S	probably benign	Het
Vmn2r28	T	A	7: 5,486,436	H468L	probably benign	Het
Xaf1	G	A	11: 72,308,638	R67H	probably benign	Het
Ypel4	T	C	2: 84,736,743		probably benign	Het
Zfp687	A	G	3: 95,010,784	I559T	probably damaging	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
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
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
X0024:Kbtbd3	UTSW	9	4331437	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTGATAAGTTATGTTGCCAGAGG -3'
(R):5'- CCATTATTATAGCATGCTCAGGGG -3'

Sequencing Primer
(F):5'- GTTGCCAGAGGTCAAATTAAATCTG -3'
(R):5'- TATAGCATGCTCAGGGGGCAATG -3'

Posted On

2018-05-21