Mutagenetix > Incidental Mutation

Incidental Mutation 'R5363:Btbd6'

422947

Institutional Source

Beutler Lab

Gene Symbol

Btbd6

Ensembl Gene

ENSMUSG00000002803

Gene Name

BTB (POZ) domain containing 6

Synonyms

MMRRC Submission

042941-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.230) question?

Stock #

R5363 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112976482-112978945 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112978136 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 356 (Y356C)

Ref Sequence

ENSEMBL: ENSMUSP00000152889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002880] [ENSMUST00000011302] [ENSMUST00000165079] [ENSMUST00000221104] [ENSMUST00000221500] [ENSMUST00000222209] [ENSMUST00000223287] [ENSMUST00000223368]

AlphaFold

Q8K2J9

Predicted Effect

probably damaging
Transcript: ENSMUST00000002880
AA Change: Y407C

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

SMART Domains

Protein: ENSMUSP00000002880
Gene: ENSMUSG00000002803
AA Change: Y407C

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	25	40	N/A	INTRINSIC
low complexity region	43	55	N/A	INTRINSIC
low complexity region	58	68	N/A	INTRINSIC
low complexity region	86	106	N/A	INTRINSIC
BTB	137	237	1.39e-23	SMART
BACK	243	352	2.81e-14	SMART
Pfam:PHR	393	538	1.2e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000011302

SMART Domains

Protein: ENSMUSP00000011302
Gene: ENSMUSG00000011158

Domain	Start	End	E-Value	Type
Pfam:TF_Zn_Ribbon	4	46	4.3e-17	PFAM
CYCLIN	91	172	1.93e-12	SMART
CYCLIN	185	269	1.22e-9	SMART
coiled coil region	298	334	N/A	INTRINSIC
low complexity region	362	374	N/A	INTRINSIC
low complexity region	431	444	N/A	INTRINSIC
Pfam:BRF1	452	545	3.3e-29	PFAM
low complexity region	638	650	N/A	INTRINSIC
low complexity region	662	675	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000165079
AA Change: Y356C

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

SMART Domains

Protein: ENSMUSP00000127286
Gene: ENSMUSG00000002803
AA Change: Y356C

Domain	Start	End	E-Value	Type
low complexity region	7	17	N/A	INTRINSIC
low complexity region	35	55	N/A	INTRINSIC
BTB	86	186	1.39e-23	SMART
BACK	192	301	2.81e-14	SMART
Pfam:PHR	342	488	8.7e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220567

Predicted Effect

probably damaging
Transcript: ENSMUST00000221104
AA Change: Y356C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221409

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221415

Predicted Effect

probably benign
Transcript: ENSMUST00000221500

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221680

Predicted Effect

probably benign
Transcript: ENSMUST00000222209

Predicted Effect

probably benign
Transcript: ENSMUST00000223287

Predicted Effect

probably benign
Transcript: ENSMUST00000223368

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223506

Predicted Effect

probably benign
Transcript: ENSMUST00000223508

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	G	T	2: 148,783,378	L77F	probably damaging	Het
Abca1	A	G	4: 53,132,963	I40T	probably benign	Het
Abca13	T	C	11: 9,277,035	V597A	possibly damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Anapc1	A	G	2: 128,650,194		probably null	Het
Ap4e1	G	A	2: 127,037,864		probably null	Het
Apod	T	C	16: 31,311,091	T16A	probably benign	Het
Arrdc5	C	T	17: 56,300,138	V36M	probably damaging	Het
Bcan	A	G	3: 87,995,487	V328A	probably damaging	Het
Bche	A	G	3: 73,700,639	Y485H	probably damaging	Het
Cdh4	A	G	2: 179,886,763	T555A	probably benign	Het
Ciita	C	T	16: 10,512,167	H769Y	probably damaging	Het
Clspn	A	G	4: 126,561,786	D35G	possibly damaging	Het
Cpsf3	T	A	12: 21,308,985	M562K	probably benign	Het
Cwc22	ATCTCTCTCTCTCTCTCT	ATCTCTCTCTCTCTCT	2: 77,929,459		probably null	Het
Cyp2a22	T	A	7: 26,936,433	Q235L	probably damaging	Het
Dicer1	A	G	12: 104,703,151	S1091P	probably damaging	Het
Dync1li1	T	A	9: 114,715,229	I323N	probably damaging	Het
Fam196b	G	A	11: 34,402,788	E277K	probably damaging	Het
Fat4	A	G	3: 38,888,005	N349S	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Hectd4	T	C	5: 121,310,603	M338T	probably benign	Het
Lactb2	A	T	1: 13,630,132	I225N	probably benign	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Mrps30	A	G	13: 118,387,162	S25P	probably benign	Het
Myg1	T	C	15: 102,337,824	V378A	probably benign	Het
Notch4	C	T	17: 34,587,123	T1731I	probably damaging	Het
Ntmt1	A	G	2: 30,820,648	D121G	probably damaging	Het
Olfr1167	A	T	2: 88,149,802	D72E	probably damaging	Het
Olfr763	C	A	10: 129,011,914	P210T	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pclo	A	G	5: 14,669,410	D1187G	unknown	Het
Pkd1	T	A	17: 24,565,073	Y198N	probably benign	Het
Plk4	T	A	3: 40,801,984	N83K	possibly damaging	Het
Prune2	A	T	19: 17,118,266	Q378L	probably damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rasa1	G	T	13: 85,288,555	T118K	possibly damaging	Het
Rin3	G	A	12: 102,325,834	V97M	probably damaging	Het
Rock2	T	C	12: 16,965,654		probably null	Het
Slc34a1	A	G	13: 55,403,268	I289V	probably benign	Het
Slc34a1	T	C	13: 55,412,290	L443P	probably damaging	Het
Slco2a1	A	T	9: 103,070,263	I254F	probably damaging	Het
Spink11	T	C	18: 44,195,686	I32V	probably benign	Het
Spire1	T	C	18: 67,506,555	E296G	probably damaging	Het
Sun1	A	G	5: 139,234,743	N410D	probably damaging	Het
Syt14	T	A	1: 192,930,663	T610S	possibly damaging	Het
Tenm3	T	C	8: 48,287,831	I1206V	possibly damaging	Het
Tet3	A	T	6: 83,376,764		probably null	Het
Thbs1	A	T	2: 118,122,666	Q919L	probably damaging	Het
Trappc10	A	G	10: 78,188,840	F1152L	possibly damaging	Het
Trp63	C	A	16: 25,863,718	N176K	probably damaging	Het
Zbtb17	A	G	4: 141,466,761	E700G	probably benign	Het
Zfp446	G	A	7: 12,978,057	R69H	probably benign	Het
Zfy2	C	T	Y: 2,106,555	C693Y	possibly damaging	Het
Zxdc	A	G	6: 90,382,146	T587A	probably damaging	Het
Zyg11a	A	G	4: 108,189,622	C552R	probably damaging	Het

Other mutations in Btbd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02264:Btbd6	APN	12	112976969	missense	probably damaging	1.00
IGL03098:Btbd6	UTSW	12	112978418	missense	probably damaging	1.00
R0544:Btbd6	UTSW	12	112977082	missense	probably damaging	1.00
R2065:Btbd6	UTSW	12	112978135	missense	probably damaging	1.00
R2424:Btbd6	UTSW	12	112978360	missense	probably benign	0.00
R4241:Btbd6	UTSW	12	112976796	missense	probably benign
R6478:Btbd6	UTSW	12	112977312	unclassified	probably benign
R7063:Btbd6	UTSW	12	112977512	missense	probably damaging	1.00
R8901:Btbd6	UTSW	12	112976600	unclassified	probably benign
R9741:Btbd6	UTSW	12	112977303	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TACCTGGTCCGAATTCCAAC -3'
(R):5'- AAAGTGTTGCTGGATCCGTC -3'

Sequencing Primer
(F):5'- GGTCCGAATTCCAACTATGACCTTAG -3'
(R):5'- CTGGATCCGTCTGAAACAAACTTGG -3'

Posted On

2016-08-04