Mutagenetix > Incidental Mutations

Incidental Mutation 'R1651:Kbtbd3'

186389

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

039687-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R1651 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4309833-4331732 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 4330589 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 321 (P321Q)

Ref Sequence

ENSEMBL: ENSMUSP00000148445 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049648
AA Change: P321Q

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000050183
Gene: ENSMUSG00000025893
AA Change: P321Q

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: P321Q

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.1047

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (66/68)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	T	A	2: 150,848,421	Q118L	probably benign	Het
Acss1	A	T	2: 150,638,437	V238D	possibly damaging	Het
Adgrv1	T	C	13: 81,487,853	I3512M	probably benign	Het
Arhgap32	A	G	9: 32,259,800	Q1292R	probably damaging	Het
Caskin1	C	T	17: 24,502,212	R509C	possibly damaging	Het
Cd47	T	C	16: 49,894,228	V147A	possibly damaging	Het
Cdc20b	T	A	13: 113,078,724	Y275*	probably null	Het
Chd4	A	G	6: 125,123,584	D1745G	possibly damaging	Het
Crmp1	T	A	5: 37,273,439	S250T	probably damaging	Het
Crybg2	C	A	4: 134,074,825	P1099T	possibly damaging	Het
Crybg2	A	G	4: 134,074,903	K1125E	probably benign	Het
Csf1r	T	A	18: 61,110,401	I163N	possibly damaging	Het
Dicer1	T	C	12: 104,708,805	T733A	probably damaging	Het
Edar	A	G	10: 58,606,053	V339A	possibly damaging	Het
Efcab6	A	G	15: 83,870,993	I1374T	possibly damaging	Het
Erbb2	G	A	11: 98,433,457	R757K	probably damaging	Het
Fam98a	A	G	17: 75,547,715	V33A	probably benign	Het
Farp2	T	C	1: 93,603,469		probably null	Het
Fcmr	A	G	1: 130,878,251	T315A	probably benign	Het
Gdf9	G	A	11: 53,433,749	R115Q	probably damaging	Het
Gm11639	A	G	11: 104,720,666	R445G	probably benign	Het
Gm22697+Rbm27	AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC	AGGTCCCGGCCCAGGCCC	18: 42,301,883		probably benign	Het
Gm428	A	T	4: 73,687,384	N344I	possibly damaging	Het
H2-M10.1	A	G	17: 36,325,756	V52A	probably damaging	Het
Hspg2	T	A	4: 137,533,437	C1582*	probably null	Het
Icam2	C	T	11: 106,377,956	V229M	probably damaging	Het
Impad1	A	G	4: 4,792,737	F123L	probably damaging	Het
Itga7	C	T	10: 128,948,824	P735L	probably benign	Het
Kcnma1	T	A	14: 23,314,194	T997S	probably damaging	Het
Kifc5b	T	C	17: 26,925,530	F541S	probably damaging	Het
Klhdc9	C	A	1: 171,360,448	V72L	probably benign	Het
Krt84	G	A	15: 101,525,963	S523F	possibly damaging	Het
Lrrtm4	A	G	6: 80,022,528	T308A	probably benign	Het
Map1b	T	C	13: 99,432,583	E1210G	unknown	Het
Mocs3	A	G	2: 168,231,569	Y312C	probably damaging	Het
Mrps7	G	T	11: 115,604,755	E40*	probably null	Het
Msln	T	C	17: 25,753,408	H50R	probably benign	Het
Myb	A	G	10: 21,126,198	F748S	probably damaging	Het
Myo10	C	A	15: 25,742,369	H590N	probably damaging	Het
Naip5	T	C	13: 100,221,911	E939G	probably benign	Het
Nbeal1	T	A	1: 60,200,119	V107E	probably damaging	Het
Nrcam	A	T	12: 44,576,679	N1011I	probably damaging	Het
Olfr1223	A	C	2: 89,145,002	V7G	probably damaging	Het
Olfr301	A	G	7: 86,407,870		probably benign	Het
Olfr356	T	C	2: 36,937,323	L68P	probably damaging	Het
Pcgf6	A	T	19: 47,049,002	C153S	probably damaging	Het
Phrf1	T	C	7: 141,237,521	V81A	probably benign	Het
Ppp4r4	A	G	12: 103,584,072	N36D	probably benign	Het
Prkch	A	G	12: 73,759,001	T517A	possibly damaging	Het
Rasal1	A	T	5: 120,652,845	K33*	probably null	Het
Rp1l1	G	A	14: 64,030,993	E1343K	probably damaging	Het
Serpinb6e	T	C	13: 33,836,423	D234G	probably benign	Het
Setd2	A	G	9: 110,549,864	S632G	probably benign	Het
Smyd3	T	G	1: 179,043,876	I313L	probably benign	Het
Tdrd9	C	A	12: 112,024,706	D543E	probably damaging	Het
Tet1	A	G	10: 62,879,674	L114P	probably damaging	Het
Tmprss11c	G	A	5: 86,239,424	P212S	probably damaging	Het
Tmx2	A	T	2: 84,676,117	M77K	probably damaging	Het
Traf3	T	G	12: 111,262,036	D560E	probably damaging	Het
Trappc12	C	T	12: 28,691,777	M711I	probably benign	Het
Trim2	A	G	3: 84,167,650		probably null	Het
Vmn2r18	A	G	5: 151,561,999	S677P	probably damaging	Het
Wdr7	T	A	18: 63,720,776	L60*	probably null	Het
Wdr93	T	C	7: 79,750,082	F140L	probably benign	Het
Zfp638	A	G	6: 83,954,737	T802A	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
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'- CCTTCCTGTCCAAAGCTTGCAGTG -3'
(R):5'- CTTGGGGTTTTCATGGCTGAAACAC -3'

Sequencing Primer
(F):5'- AATGGTCCTAAAGGCTGTCC -3'
(R):5'- TTTCATGGCTGAAACACAGAAAAAC -3'

Posted On

2014-05-09