Mutagenetix > Incidental Mutation

Incidental Mutation 'R9801:Btbd3'

735196

Institutional Source

Beutler Lab

Gene Symbol

Btbd3

Ensembl Gene

ENSMUSG00000062098

Gene Name

BTB domain containing 3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.534) question?

Stock #

R9801 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138098478-138129344 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 138122368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 173 (R173*)

Ref Sequence

ENSEMBL: ENSMUSP00000074864 (fasta)

Gene Model

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

AlphaFold

P58545

Predicted Effect

probably null
Transcript: ENSMUST00000075410
AA Change: R173*

SMART Domains

Protein: ENSMUSP00000074864
Gene: ENSMUSG00000062098
AA Change: R173*

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 null
Transcript: ENSMUST00000091556
AA Change: R104*

SMART Domains

Protein: ENSMUSP00000089144
Gene: ENSMUSG00000062098
AA Change: R104*

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	T	12: 72,945,540 (GRCm39)	N330K	probably benign	Het
4933402J07Rik	A	G	8: 88,290,717 (GRCm39)	E25G	probably damaging	Het
Acss3	T	C	10: 106,881,091 (GRCm39)	T297A	possibly damaging	Het
Anks1	A	G	17: 28,227,033 (GRCm39)	E562G	possibly damaging	Het
Atg12	T	C	18: 46,874,460 (GRCm39)	T52A	probably benign	Het
Bbox1	T	A	2: 110,100,418 (GRCm39)	T260S	probably benign	Het
Cbr1	A	C	16: 93,406,687 (GRCm39)	R134S	probably damaging	Het
Cdcp2	A	T	4: 106,964,262 (GRCm39)	I371F	possibly damaging	Het
Cntrob	T	C	11: 69,212,233 (GRCm39)	E124G	possibly damaging	Het
Cstf3	T	C	2: 104,421,024 (GRCm39)	S2P	possibly damaging	Het
Ctbs	T	C	3: 146,169,679 (GRCm39)	V312A	probably damaging	Het
Cylc2	T	A	4: 51,228,466 (GRCm39)	V179E	probably null	Het
Dip2c	T	C	13: 9,626,936 (GRCm39)	L658P	probably damaging	Het
Dus4l	A	G	12: 31,698,827 (GRCm39)	I59T	probably damaging	Het
Extl3	A	T	14: 65,314,782 (GRCm39)	N133K	probably benign	Het
Fam83d	T	A	2: 158,610,310 (GRCm39)	C93S	probably damaging	Het
Galr1	T	C	18: 82,423,912 (GRCm39)	S122G	possibly damaging	Het
Glra3	G	A	8: 56,563,563 (GRCm39)	V353M	probably damaging	Het
H2-M10.4	A	T	17: 36,771,511 (GRCm39)	N222K	probably damaging	Het
Klra7	C	T	6: 130,205,477 (GRCm39)		probably null	Het
Lyst	T	A	13: 13,809,290 (GRCm39)	V320E	probably damaging	Het
Me3	A	C	7: 89,435,657 (GRCm39)	D164A	probably damaging	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Nbr1	C	A	11: 101,447,025 (GRCm39)	Q4K	probably damaging	Het
Nr1i3	T	C	1: 171,045,252 (GRCm39)	L300P	probably damaging	Het
Pemt	T	A	11: 59,874,287 (GRCm39)	N101I	probably damaging	Het
Pkd1l1	C	A	11: 8,908,964 (GRCm39)	E347*	probably null	Het
Plxna4	C	T	6: 32,140,526 (GRCm39)		probably null	Het
Polq	C	T	16: 36,913,190 (GRCm39)	R2420C	probably damaging	Het
Psg22	T	C	7: 18,456,899 (GRCm39)	Y261H	probably benign	Het
Pum1	C	T	4: 130,481,328 (GRCm39)	S722L	probably benign	Het
Rbl2	T	C	8: 91,822,229 (GRCm39)	Y464H	probably benign	Het
Rnf145	T	A	11: 44,448,112 (GRCm39)	I323N	probably damaging	Het
Rxylt1	T	A	10: 121,926,608 (GRCm39)	N168I	probably damaging	Het
Scgb2b7	A	T	7: 31,404,580 (GRCm39)	V40E	probably damaging	Het
Slmap	G	A	14: 26,143,595 (GRCm39)	A764V	probably damaging	Het
Smarca4	G	T	9: 21,586,397 (GRCm39)	L1139F	probably damaging	Het
Svil	A	G	18: 5,049,062 (GRCm39)	E113G	probably damaging	Het
Taf4b	T	C	18: 14,932,235 (GRCm39)	S196P	probably benign	Het
Tcp10b	A	G	17: 13,281,867 (GRCm39)	E79G	possibly damaging	Het
Tet3	T	A	6: 83,346,436 (GRCm39)	N1334Y	possibly damaging	Het
Tll2	A	G	19: 41,194,993 (GRCm39)	V31A	probably benign	Het
Trappc10	A	G	10: 78,045,263 (GRCm39)	I475T	probably benign	Het
Uba3	T	A	6: 97,162,635 (GRCm39)	D387V	probably benign	Het
Vwa1	G	A	4: 155,857,336 (GRCm39)	P154L	probably damaging	Het
Zfp260	T	C	7: 29,804,937 (GRCm39)	I279T	possibly damaging	Het

Other mutations in Btbd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01519:Btbd3	APN	2	138,121,697 (GRCm39)	missense	probably benign	0.05
IGL01650:Btbd3	APN	2	138,126,025 (GRCm39)	missense	probably damaging	1.00
IGL01783:Btbd3	APN	2	138,125,656 (GRCm39)	missense	probably damaging	1.00
IGL03108:Btbd3	APN	2	138,126,043 (GRCm39)	missense	possibly damaging	0.55
IGL03232:Btbd3	APN	2	138,126,063 (GRCm39)	missense	probably damaging	1.00
IGL03259:Btbd3	APN	2	138,121,680 (GRCm39)	missense	probably damaging	1.00
IGL03405:Btbd3	APN	2	138,121,681 (GRCm39)	missense	probably damaging	0.98
R0540:Btbd3	UTSW	2	138,125,736 (GRCm39)	missense	possibly damaging	0.90
R0607:Btbd3	UTSW	2	138,125,736 (GRCm39)	missense	possibly damaging	0.90
R1171:Btbd3	UTSW	2	138,125,881 (GRCm39)	missense	probably benign	0.03
R1983:Btbd3	UTSW	2	138,125,608 (GRCm39)	missense	probably damaging	0.99
R2034:Btbd3	UTSW	2	138,120,903 (GRCm39)	missense	probably benign	0.15
R5111:Btbd3	UTSW	2	138,120,829 (GRCm39)	start codon destroyed	probably null	0.53
R6170:Btbd3	UTSW	2	138,120,862 (GRCm39)	missense	probably damaging	1.00
R6663:Btbd3	UTSW	2	138,121,003 (GRCm39)	missense	probably benign	0.00
R6708:Btbd3	UTSW	2	138,125,491 (GRCm39)	missense	possibly damaging	0.62
R7210:Btbd3	UTSW	2	138,125,664 (GRCm39)	missense	probably damaging	1.00
R8978:Btbd3	UTSW	2	138,126,055 (GRCm39)	missense	possibly damaging	0.95
R9001:Btbd3	UTSW	2	138,122,296 (GRCm39)	missense	possibly damaging	0.69
R9008:Btbd3	UTSW	2	138,125,453 (GRCm39)	missense	probably benign	0.12
Z1189:Btbd3	UTSW	2	138,126,010 (GRCm39)	small deletion	probably benign
Z1192:Btbd3	UTSW	2	138,126,010 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- GGCTATGTACCTTACGTGCC -3'
(R):5'- CATTCCATAGGACTTCCCCGAG -3'

Sequencing Primer
(F):5'- TACCTTACGTGCCCCCGG -3'
(R):5'- GCGGTTCTAAGACCATTTACAAGGC -3'

Posted On

2022-11-14