Mutagenetix > Incidental Mutation

Incidental Mutation 'R6663:Btbd3'

526863

Institutional Source

Beutler Lab

Gene Symbol

Btbd3

Ensembl Gene

ENSMUSG00000062098

Gene Name

BTB (POZ) domain containing 3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.421) question?

Stock #

R6663 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

138256565-138589292 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 138279083 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 59 (I59K)

Ref Sequence

ENSEMBL: ENSMUSP00000074864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075410] [ENSMUST00000091556]

AlphaFold

P58545

Predicted Effect

probably benign
Transcript: ENSMUST00000075410
AA Change: I59K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000074864
Gene: ENSMUSG00000062098
AA Change: I59K

Domain	Start	End	E-Value	Type
low complexity region	26	51	N/A	INTRINSIC
low complexity region	63	69	N/A	INTRINSIC
low complexity region	89	101	N/A	INTRINSIC
BTB	128	228	5.55e-23	SMART
BACK	234	343	1.11e-12	SMART
Pfam:PHR	384	529	4.1e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000091556

SMART Domains

Protein: ENSMUSP00000089144
Gene: ENSMUSG00000062098

Domain	Start	End	E-Value	Type
low complexity region	20	32	N/A	INTRINSIC
BTB	59	159	5.55e-23	SMART
BACK	165	274	1.11e-12	SMART
Pfam:PHR	315	461	8.6e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155646

Meta Mutation Damage Score

0.0855

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.0%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	A	G	5: 90,264,064	S1314P	probably damaging	Het
Clcn2	A	G	16: 20,703,245	*865R	probably null	Het
Col22a1	T	C	15: 71,820,059	Q749R	unknown	Het
Cpsf2	T	C	12: 101,999,593	Y606H	probably damaging	Het
Csn1s1	T	C	5: 87,675,740	V154A	probably benign	Het
Cux1	T	A	5: 136,485,847	E23V	probably damaging	Het
Cyp2j9	C	A	4: 96,579,442	W269L	probably benign	Het
Dbf4	T	C	5: 8,403,184	M273V	probably benign	Het
Dnhd1	A	G	7: 105,685,692		probably null	Het
Fezf1	A	G	6: 23,247,528	S183P	probably damaging	Het
Irx2	A	G	13: 72,629,129	Y23C	probably damaging	Het
Itga1	A	T	13: 114,974,105	N983K	probably benign	Het
Kifc1	A	G	17: 33,881,456		probably benign	Het
Lrrc14b	T	C	13: 74,361,361	N309S	probably damaging	Het
Lyst	A	T	13: 13,664,116		probably null	Het
Map1b	T	C	13: 99,430,022	T2064A	unknown	Het
Mark3	T	A	12: 111,575,083	N11K	probably benign	Het
Med6	T	A	12: 81,581,875	D80V	possibly damaging	Het
Mfhas1	A	G	8: 35,589,118	E249G	probably damaging	Het
Mroh2b	A	G	15: 4,947,935	I1256M	probably benign	Het
Nkx2-9	G	T	12: 56,611,938	R164S	probably benign	Het
Olfr1181	T	A	2: 88,423,350	N225I	probably benign	Het
Phf10	T	C	17: 14,959,512	D33G	probably null	Het
Plekha5	A	G	6: 140,577,290	M719V	probably damaging	Het
Pln	A	G	10: 53,343,696		probably benign	Het
Prg4	G	A	1: 150,455,101		probably benign	Het
Slc35b3	A	G	13: 38,954,136	L99P	probably damaging	Het
Tbccd1	AT	ATGT	16: 22,834,028		probably null	Het
Ube2j1	C	T	4: 33,045,198	S157L	probably damaging	Het
Zfp462	A	G	4: 55,008,933	T300A	possibly damaging	Het
Zfp668	G	A	7: 127,867,769	R212C	probably damaging	Het
Zufsp	A	G	10: 33,949,435	M17T	possibly damaging	Het

Other mutations in Btbd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01519:Btbd3	APN	2	138279777	missense	probably benign	0.05
IGL01650:Btbd3	APN	2	138284105	missense	probably damaging	1.00
IGL01783:Btbd3	APN	2	138283736	missense	probably damaging	1.00
IGL03108:Btbd3	APN	2	138284123	missense	possibly damaging	0.55
IGL03232:Btbd3	APN	2	138284143	missense	probably damaging	1.00
IGL03259:Btbd3	APN	2	138279760	missense	probably damaging	1.00
IGL03405:Btbd3	APN	2	138279761	missense	probably damaging	0.98
R0540:Btbd3	UTSW	2	138283816	missense	possibly damaging	0.90
R0607:Btbd3	UTSW	2	138283816	missense	possibly damaging	0.90
R1171:Btbd3	UTSW	2	138283961	missense	probably benign	0.03
R1983:Btbd3	UTSW	2	138283688	missense	probably damaging	0.99
R2034:Btbd3	UTSW	2	138278983	missense	probably benign	0.15
R5111:Btbd3	UTSW	2	138278909	start codon destroyed	probably null	0.53
R6170:Btbd3	UTSW	2	138278942	missense	probably damaging	1.00
R6708:Btbd3	UTSW	2	138283571	missense	possibly damaging	0.62
R7210:Btbd3	UTSW	2	138283744	missense	probably damaging	1.00
R8978:Btbd3	UTSW	2	138284135	missense	possibly damaging	0.95
R9001:Btbd3	UTSW	2	138280376	missense	possibly damaging	0.69
R9008:Btbd3	UTSW	2	138283533	missense	probably benign	0.12
R9801:Btbd3	UTSW	2	138280448	nonsense	probably null
Z1189:Btbd3	UTSW	2	138284090	small deletion	probably benign
Z1192:Btbd3	UTSW	2	138284090	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAGACATCCTGTACTCATGGTAG -3'
(R):5'- TAAACACGCTAGCCTGCCAG -3'

Sequencing Primer
(F):5'- TCCTGTACTCATGGTAGATGATAAAG -3'
(R):5'- AGCAAGGGCGCTTACCTTTC -3'

Posted On

2018-07-23