Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01650:Btbd3'

102812

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Btbd3

Ensembl Gene

ENSMUSG00000062098

Gene Name

BTB (POZ) domain containing 3

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.384) question?

Stock #

IGL01650

Quality Score

Status

Chromosome

Chromosomal Location

138256565-138589292 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 138284105 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 334 (D334V)

Ref Sequence

ENSEMBL: ENSMUSP00000089144 (fasta)

Gene Model

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

AlphaFold

P58545

Predicted Effect

probably damaging
Transcript: ENSMUST00000075410
AA Change: D403V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074864
Gene: ENSMUSG00000062098
AA Change: D403V

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 damaging
Transcript: ENSMUST00000091556
AA Change: D334V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000089144
Gene: ENSMUSG00000062098
AA Change: D334V

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	A	3: 36,992,673		probably benign	Het
Agbl1	A	G	7: 76,420,319	D281G	probably damaging	Het
Arhgap28	T	C	17: 67,873,132	E236G	probably damaging	Het
Cabp4	T	C	19: 4,139,324	E78G	probably benign	Het
Clcn4	T	C	7: 7,284,281		probably benign	Het
Col14a1	A	G	15: 55,406,693	Y600C	unknown	Het
Cpne4	A	G	9: 104,901,511	D167G	probably damaging	Het
Eif3a	T	A	19: 60,773,996	I450F	probably damaging	Het
Enpp2	T	A	15: 54,919,933	Y10F	probably benign	Het
Fam227a	A	T	15: 79,634,073	H339Q	possibly damaging	Het
Far2	C	A	6: 148,173,487	T406K	possibly damaging	Het
Fmo1	A	G	1: 162,833,584	S377P	probably benign	Het
Fsip2	G	A	2: 82,991,086	S5721N	probably benign	Het
Gatb	T	C	3: 85,613,484	I300T	possibly damaging	Het
Gpam	T	C	19: 55,081,700	N375D	probably benign	Het
Gsdma	G	T	11: 98,673,687	D331Y	probably damaging	Het
Kif13b	T	C	14: 64,765,145	V1073A	probably benign	Het
Mfsd4b1	T	A	10: 40,003,119	M261L	probably benign	Het
Nav1	A	T	1: 135,454,760	D1321E	probably damaging	Het
Olfr1312	A	G	2: 112,042,375	I219T	possibly damaging	Het
Olfr592	A	G	7: 103,187,079	I159M	probably benign	Het
Olfr813	T	A	10: 129,857,067	L183Q	probably damaging	Het
Olfr816	A	G	10: 129,911,681	V199A	probably benign	Het
Olfr951	G	T	9: 39,393,956	S55I	probably damaging	Het
Ppp1r10	G	T	17: 35,931,161	R857L	unknown	Het
Prune2	T	A	19: 17,168,292	I2752N	possibly damaging	Het
Pxdn	T	C	12: 30,002,401	I859T	probably benign	Het
Ros1	T	C	10: 52,154,979	D510G	probably damaging	Het
Sema3g	C	A	14: 31,221,787	P208H	probably benign	Het
Smcr8	T	C	11: 60,778,184	F53L	probably damaging	Het
Tnfsf13b	A	T	8: 10,031,411	I219F	probably damaging	Het
Vmn1r62	T	C	7: 5,676,025	V235A	probably damaging	Het
Vmn2r44	C	A	7: 8,380,104		probably null	Het
Zkscan7	A	G	9: 122,894,827	D287G	probably benign	Het

Other mutations in Btbd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01519:Btbd3	APN	2	138279777	missense	probably benign	0.05
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
R6663:Btbd3	UTSW	2	138279083	missense	probably benign	0.00
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

Posted On

2014-01-21