Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00848:Kbtbd3'

11544

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 #

IGL00848

Quality Score

Status

Chromosome

Chromosomal Location

4309833-4331732 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4331184 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 519 (S519R)

Ref Sequence

ENSEMBL: ENSMUSP00000148445 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000049648
AA Change: S519R

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

SMART Domains

Protein: ENSMUSP00000050183
Gene: ENSMUSG00000025893
AA Change: S519R

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: S519R

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	G	7: 131,246,724	E869G	probably damaging	Het
A930011G23Rik	A	G	5: 99,222,378	F508L	probably damaging	Het
Adgra3	C	T	5: 50,001,949	G320R	probably damaging	Het
Arhgef40	G	A	14: 51,987,427	V10M	probably damaging	Het
Birc6	C	T	17: 74,696,393	Q4739*	probably null	Het
Cdh20	C	T	1: 104,934,256	H54Y	probably benign	Het
Cep112	A	G	11: 108,472,060	D202G	probably damaging	Het
Cfhr2	T	A	1: 139,831,232	T27S	probably benign	Het
Copa	T	A	1: 172,110,688	C523S	possibly damaging	Het
Copz1	T	A	15: 103,298,749		probably benign	Het
Crybg1	A	C	10: 43,967,818		probably null	Het
Cyp3a11	A	T	5: 145,862,465	I304N	probably damaging	Het
Eif2d	C	T	1: 131,164,436	Q315*	probably null	Het
Fgfr4	A	G	13: 55,159,170	E224G	probably damaging	Het
Fndc3b	A	T	3: 27,451,509	L870Q	probably damaging	Het
Glt8d2	C	T	10: 82,662,165		probably null	Het
Gpat3	A	T	5: 100,893,144	M357L	probably benign	Het
Hrnr	A	T	3: 93,322,897	K147N	unknown	Het
Kcnv1	A	G	15: 45,113,228	I221T	probably benign	Het
Khdrbs2	C	T	1: 32,472,752	A266V	probably benign	Het
Lmtk2	A	G	5: 144,176,398	E1312G	probably benign	Het
Mb21d1	G	A	9: 78,435,488	P344L	probably damaging	Het
Mos	T	C	4: 3,871,459	N119S	probably damaging	Het
Mtpap	C	T	18: 4,380,717	H132Y	probably benign	Het
Myo18b	G	A	5: 112,871,485	T642I	probably damaging	Het
Myo5c	A	G	9: 75,289,181	E1303G	probably benign	Het
Napepld	A	T	5: 21,683,193	M86K	probably benign	Het
Nvl	T	A	1: 181,105,125	D709V	probably damaging	Het
Pak1ip1	A	T	13: 41,012,623	E341D	probably benign	Het
Pgghg	G	A	7: 140,942,404	G32D	probably damaging	Het
Phlpp1	G	A	1: 106,376,255	R1096H	probably damaging	Het
Phlpp1	C	T	1: 106,339,448	T697M	probably damaging	Het
Piwil4	T	G	9: 14,727,411	T273P	probably damaging	Het
Pkd2l1	A	T	19: 44,192,279		probably benign	Het
Polr3b	A	G	10: 84,680,377	D623G	probably damaging	Het
Pop1	A	G	15: 34,508,729	T317A	probably benign	Het
Prune2	A	T	19: 17,119,118	K662I	probably damaging	Het
Ptger4	T	C	15: 5,235,108	I356V	probably benign	Het
Rhbdd1	T	C	1: 82,340,444	L16P	possibly damaging	Het
Rps11	C	T	7: 45,123,501	R22Q	probably benign	Het
Sfxn2	A	T	19: 46,590,157	I204F	probably damaging	Het
Slc26a9	C	T	1: 131,757,528	S365F	probably damaging	Het
Slc47a2	C	T	11: 61,302,233	V565M	probably benign	Het
Spns1	T	C	7: 126,371,242		probably null	Het
Stk3	T	A	15: 35,114,622	E48V	possibly damaging	Het
Svs3b	T	C	2: 164,256,101	E100G	probably damaging	Het
Tjp1	T	C	7: 65,303,194	Q1464R	probably benign	Het
Tspan10	T	C	11: 120,444,270	S69P	probably benign	Het
Usp32	T	C	11: 85,051,181		probably benign	Het
Vps45	G	T	3: 96,056,973		probably benign	Het
Zfp106	A	T	2: 120,512,727	N1790K	probably damaging	Het
Zfp704	A	T	3: 9,565,239	S21T	possibly 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
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