Mutagenetix > Incidental Mutation

Incidental Mutation 'R5363:Btbd6'

422947

Institutional Source

Beutler Lab

Gene Symbol

Btbd6

Ensembl Gene

ENSMUSG00000002803

Gene Name

BTB domain containing 6

Synonyms

MMRRC Submission

042941-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.224) question?

Stock #

R5363 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112940102-112942565 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112941756 bp (GRCm39)

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] [ENSMUST00000223287] [ENSMUST00000222209] [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

noncoding transcript
Transcript: ENSMUST00000221680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223506

Predicted Effect

probably benign
Transcript: ENSMUST00000223508

Predicted Effect

probably benign
Transcript: ENSMUST00000221500

Predicted Effect

probably benign
Transcript: ENSMUST00000223287

Predicted Effect

probably benign
Transcript: ENSMUST00000222209

Predicted Effect

probably benign
Transcript: ENSMUST00000223368

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
Abca1	A	G	4: 53,132,963 (GRCm39)	I40T	probably benign	Het
Abca13	T	C	11: 9,227,035 (GRCm39)	V597A	possibly damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Anapc1	A	G	2: 128,492,114 (GRCm39)		probably null	Het
Ap4e1	G	A	2: 126,879,784 (GRCm39)		probably null	Het
Apod	T	C	16: 31,129,909 (GRCm39)	T16A	probably benign	Het
Arrdc5	C	T	17: 56,607,138 (GRCm39)	V36M	probably damaging	Het
Bcan	A	G	3: 87,902,794 (GRCm39)	V328A	probably damaging	Het
Bche	A	G	3: 73,607,972 (GRCm39)	Y485H	probably damaging	Het
Cdh4	A	G	2: 179,528,556 (GRCm39)	T555A	probably benign	Het
Ciita	C	T	16: 10,330,031 (GRCm39)	H769Y	probably damaging	Het
Clspn	A	G	4: 126,455,579 (GRCm39)	D35G	possibly damaging	Het
Cpsf3	T	A	12: 21,358,986 (GRCm39)	M562K	probably benign	Het
Cstdc1	G	T	2: 148,625,298 (GRCm39)	L77F	probably damaging	Het
Cwc22	ATCTCTCTCTCTCTCTCT	ATCTCTCTCTCTCTCT	2: 77,759,803 (GRCm39)		probably null	Het
Cyp2a22	T	A	7: 26,635,858 (GRCm39)	Q235L	probably damaging	Het
Dicer1	A	G	12: 104,669,410 (GRCm39)	S1091P	probably damaging	Het
Dync1li1	T	A	9: 114,544,297 (GRCm39)	I323N	probably damaging	Het
Fat4	A	G	3: 38,942,154 (GRCm39)	N349S	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Hectd4	T	C	5: 121,448,666 (GRCm39)	M338T	probably benign	Het
Insyn2b	G	A	11: 34,352,788 (GRCm39)	E277K	probably damaging	Het
Lactb2	A	T	1: 13,700,356 (GRCm39)	I225N	probably benign	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Mrps30	A	G	13: 118,523,698 (GRCm39)	S25P	probably benign	Het
Myg1	T	C	15: 102,246,259 (GRCm39)	V378A	probably benign	Het
Notch4	C	T	17: 34,806,097 (GRCm39)	T1731I	probably damaging	Het
Ntmt1	A	G	2: 30,710,660 (GRCm39)	D121G	probably damaging	Het
Or10p21	C	A	10: 128,847,783 (GRCm39)	P210T	probably damaging	Het
Or5d39	A	T	2: 87,980,146 (GRCm39)	D72E	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pclo	A	G	5: 14,719,424 (GRCm39)	D1187G	unknown	Het
Pkd1	T	A	17: 24,784,047 (GRCm39)	Y198N	probably benign	Het
Plk4	T	A	3: 40,756,419 (GRCm39)	N83K	possibly damaging	Het
Prune2	A	T	19: 17,095,630 (GRCm39)	Q378L	probably damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rasa1	G	T	13: 85,436,674 (GRCm39)	T118K	possibly damaging	Het
Rin3	G	A	12: 102,292,093 (GRCm39)	V97M	probably damaging	Het
Rock2	T	C	12: 17,015,655 (GRCm39)		probably null	Het
Slc34a1	A	G	13: 55,551,081 (GRCm39)	I289V	probably benign	Het
Slc34a1	T	C	13: 55,560,103 (GRCm39)	L443P	probably damaging	Het
Slco2a1	A	T	9: 102,947,462 (GRCm39)	I254F	probably damaging	Het
Spink11	T	C	18: 44,328,753 (GRCm39)	I32V	probably benign	Het
Spire1	T	C	18: 67,639,625 (GRCm39)	E296G	probably damaging	Het
Sun1	A	G	5: 139,220,498 (GRCm39)	N410D	probably damaging	Het
Syt14	T	A	1: 192,612,971 (GRCm39)	T610S	possibly damaging	Het
Tenm3	T	C	8: 48,740,866 (GRCm39)	I1206V	possibly damaging	Het
Tet3	A	T	6: 83,353,746 (GRCm39)		probably null	Het
Thbs1	A	T	2: 117,953,147 (GRCm39)	Q919L	probably damaging	Het
Trappc10	A	G	10: 78,024,674 (GRCm39)	F1152L	possibly damaging	Het
Trp63	C	A	16: 25,682,468 (GRCm39)	N176K	probably damaging	Het
Zbtb17	A	G	4: 141,194,072 (GRCm39)	E700G	probably benign	Het
Zfp446	G	A	7: 12,711,984 (GRCm39)	R69H	probably benign	Het
Zfy2	C	T	Y: 2,106,555 (GRCm39)	C693Y	possibly damaging	Het
Zxdc	A	G	6: 90,359,128 (GRCm39)	T587A	probably damaging	Het
Zyg11a	A	G	4: 108,046,819 (GRCm39)	C552R	probably damaging	Het

Other mutations in Btbd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02264:Btbd6	APN	12	112,940,589 (GRCm39)	missense	probably damaging	1.00
IGL03098:Btbd6	UTSW	12	112,942,038 (GRCm39)	missense	probably damaging	1.00
R0544:Btbd6	UTSW	12	112,940,702 (GRCm39)	missense	probably damaging	1.00
R2065:Btbd6	UTSW	12	112,941,755 (GRCm39)	missense	probably damaging	1.00
R2424:Btbd6	UTSW	12	112,941,980 (GRCm39)	missense	probably benign	0.00
R4241:Btbd6	UTSW	12	112,940,416 (GRCm39)	missense	probably benign
R6478:Btbd6	UTSW	12	112,940,932 (GRCm39)	unclassified	probably benign
R7063:Btbd6	UTSW	12	112,941,132 (GRCm39)	missense	probably damaging	1.00
R8901:Btbd6	UTSW	12	112,940,220 (GRCm39)	unclassified	probably benign
R9741:Btbd6	UTSW	12	112,940,923 (GRCm39)	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