Mutagenetix > Incidental Mutation

Incidental Mutation 'R5839:Btbd16'

449804

Institutional Source

Beutler Lab

Gene Symbol

Btbd16

Ensembl Gene

ENSMUSG00000040298

Gene Name

BTB domain containing 16

Synonyms

E330040A16Rik

MMRRC Submission

044059-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5839 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130375799-130427629 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 130417538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146849 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048453] [ENSMUST00000124096] [ENSMUST00000207219] [ENSMUST00000208593]

AlphaFold

E9Q173

Predicted Effect

probably null
Transcript: ENSMUST00000048453

SMART Domains

Protein: ENSMUSP00000035433
Gene: ENSMUSG00000040298

Domain	Start	End	E-Value	Type
low complexity region	18	30	N/A	INTRINSIC
Blast:BTB	97	222	3e-47	BLAST
SCOP:d1buoa_	154	218	2e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207219

Predicted Effect

probably null
Transcript: ENSMUST00000208593

Meta Mutation Damage Score

0.9478

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

94% (62/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a BTB/POZ domain. This domain mediates protein-protein interactions. A mutation in this gene may be associated with bipolar disorder. [provided by RefSeq, Sep 2016]

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	A	5: 8,186,861 (GRCm39)	Y420F	probably damaging	Het
Adcy8	A	G	15: 64,588,031 (GRCm39)	Y919H	probably damaging	Het
Afg2a	A	G	3: 37,518,803 (GRCm39)	D779G	probably damaging	Het
Ampd1	A	T	3: 102,992,744 (GRCm39)	N162I	possibly damaging	Het
Arhgef15	G	A	11: 68,844,982 (GRCm39)	A205V	probably benign	Het
Ash1l	A	G	3: 88,890,658 (GRCm39)	K846E	probably damaging	Het
Azi2	C	T	9: 117,888,187 (GRCm39)	T250I	probably damaging	Het
Ceacam16	T	A	7: 19,590,008 (GRCm39)	K52*	probably null	Het
Cfap74	T	C	4: 155,507,207 (GRCm39)		probably null	Het
Cgn	A	C	3: 94,681,703 (GRCm39)	L464R	probably damaging	Het
Chpt1	T	A	10: 88,339,625 (GRCm39)	H32L	probably damaging	Het
Clk1	G	A	1: 58,461,074 (GRCm39)	T7I	probably benign	Het
Col6a5	C	T	9: 105,822,592 (GRCm39)		probably null	Het
Cpne4	C	A	9: 104,803,027 (GRCm39)	R224S	probably damaging	Het
Cysltr2	T	C	14: 73,267,623 (GRCm39)	Y29C	probably damaging	Het
Ddx5	A	G	11: 106,673,032 (GRCm39)	S498P	probably damaging	Het
Dgkg	A	G	16: 22,385,244 (GRCm39)	Y382H	possibly damaging	Het
Efemp1	A	G	11: 28,871,418 (GRCm39)	E339G	possibly damaging	Het
Focad	T	A	4: 88,115,083 (GRCm39)		probably benign	Het
Gabbr1	G	A	17: 37,378,760 (GRCm39)	G650D	probably damaging	Het
Galnt9	A	G	5: 110,725,386 (GRCm39)	S108G	probably benign	Het
Igkv8-28	T	A	6: 70,121,145 (GRCm39)	M1L	probably benign	Het
Iqca1l	T	C	5: 24,757,024 (GRCm39)	K218E	probably damaging	Het
Kcnq2	T	C	2: 180,751,544 (GRCm39)	Y284C	probably damaging	Het
Macf1	A	G	4: 123,275,117 (GRCm39)	F6299S	probably damaging	Het
Magi3	G	A	3: 104,127,047 (GRCm39)	T79M	probably damaging	Het
Mdh2	T	A	5: 135,812,146 (GRCm39)		probably null	Het
Mgam	A	C	6: 40,716,998 (GRCm39)	N108T	possibly damaging	Het
N4bp3	A	T	11: 51,536,909 (GRCm39)	F55I	probably benign	Het
Nasp	C	T	4: 116,459,288 (GRCm39)		probably null	Het
Ncapg	T	A	5: 45,829,620 (GRCm39)	H107Q	probably damaging	Het
Ofcc1	T	C	13: 40,434,021 (GRCm39)	K28R	probably damaging	Het
Opn1sw	C	T	6: 29,379,829 (GRCm39)	C135Y	probably damaging	Het
Pigo	T	C	4: 43,022,104 (GRCm39)	M346V	probably damaging	Het
Pkn2	A	T	3: 142,527,290 (GRCm39)	D386E	probably benign	Het
Psd2	G	T	18: 36,140,577 (GRCm39)	V617L	probably damaging	Het
Rab39	C	T	9: 53,617,387 (GRCm39)	R10H	probably damaging	Het
Slc6a6	T	A	6: 91,700,298 (GRCm39)	C9S	probably damaging	Het
Slc8a2	A	T	7: 15,868,412 (GRCm39)	I215F	probably damaging	Het
Slitrk5	T	C	14: 111,917,030 (GRCm39)	V218A	probably benign	Het
Smchd1	A	T	17: 71,701,857 (GRCm39)	V1045E	probably damaging	Het
Smoc1	T	C	12: 81,214,359 (GRCm39)	I247T	probably damaging	Het
Snapc4	G	C	2: 26,255,546 (GRCm39)	Q993E	probably benign	Het
Spidr	A	T	16: 15,855,366 (GRCm39)	I383N	probably damaging	Het
Stab2	A	G	10: 86,708,555 (GRCm39)	V219A	probably damaging	Het
Tas2r103	T	C	6: 133,013,779 (GRCm39)	T96A	probably benign	Het
Tcaf3	T	C	6: 42,570,783 (GRCm39)	E323G	possibly damaging	Het
Tecta	T	C	9: 42,284,272 (GRCm39)	T938A	possibly damaging	Het
Tecta	C	T	9: 42,242,319 (GRCm39)	D2085N	probably benign	Het
Tekt2	T	A	4: 126,216,629 (GRCm39)	E328V	probably damaging	Het
Tgfb1i1	A	G	7: 127,852,537 (GRCm39)	*462W	probably null	Het
Tnip2	T	C	5: 34,653,976 (GRCm39)		probably benign	Het
Tpd52l2	G	A	2: 181,141,691 (GRCm39)	V25I	probably benign	Het
Traj15	T	A	14: 54,441,926 (GRCm39)		probably benign	Het
Trpm8	A	T	1: 88,253,228 (GRCm39)	I106F	possibly damaging	Het
Ttc22	T	C	4: 106,495,717 (GRCm39)	L357P	probably damaging	Het
Ttn	T	C	2: 76,739,772 (GRCm39)	H3589R	probably benign	Het
Vmn1r28	T	A	6: 58,242,280 (GRCm39)	I41N	possibly damaging	Het
Wasf1	T	A	10: 40,812,315 (GRCm39)	V368E	unknown	Het
Zeb1	A	G	18: 5,767,507 (GRCm39)	M673V	probably benign	Het
Zfp799	T	C	17: 33,041,086 (GRCm39)	D31G	probably null	Het

Other mutations in Btbd16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Btbd16	APN	7	130,390,552 (GRCm39)	missense	probably damaging	1.00
IGL01020:Btbd16	APN	7	130,426,091 (GRCm39)	missense	probably damaging	1.00
IGL01098:Btbd16	APN	7	130,424,975 (GRCm39)	missense	probably damaging	1.00
IGL01412:Btbd16	APN	7	130,407,549 (GRCm39)	critical splice acceptor site	probably null
1mM(1):Btbd16	UTSW	7	130,423,221 (GRCm39)	missense	possibly damaging	0.86
R0063:Btbd16	UTSW	7	130,424,896 (GRCm39)	missense	probably benign	0.25
R0063:Btbd16	UTSW	7	130,424,896 (GRCm39)	missense	probably benign	0.25
R0147:Btbd16	UTSW	7	130,381,324 (GRCm39)	missense	probably damaging	1.00
R0436:Btbd16	UTSW	7	130,387,783 (GRCm39)	missense	probably benign	0.10
R0715:Btbd16	UTSW	7	130,390,557 (GRCm39)	missense	probably damaging	1.00
R2127:Btbd16	UTSW	7	130,386,038 (GRCm39)	missense	probably benign	0.17
R2411:Btbd16	UTSW	7	130,391,954 (GRCm39)	missense	probably damaging	1.00
R3798:Btbd16	UTSW	7	130,378,870 (GRCm39)	missense	probably benign	0.43
R5595:Btbd16	UTSW	7	130,425,034 (GRCm39)	missense	probably damaging	1.00
R5595:Btbd16	UTSW	7	130,425,033 (GRCm39)	missense	possibly damaging	0.52
R5933:Btbd16	UTSW	7	130,386,011 (GRCm39)	missense	probably damaging	0.99
R6029:Btbd16	UTSW	7	130,420,802 (GRCm39)	missense	probably benign	0.17
R7255:Btbd16	UTSW	7	130,387,722 (GRCm39)	missense	probably benign	0.04
R7355:Btbd16	UTSW	7	130,423,173 (GRCm39)	missense	probably benign	0.01
R7405:Btbd16	UTSW	7	130,407,586 (GRCm39)	missense	probably benign	0.08
R7527:Btbd16	UTSW	7	130,422,202 (GRCm39)	missense	probably damaging	1.00
R7980:Btbd16	UTSW	7	130,426,097 (GRCm39)	missense	probably damaging	1.00
R8151:Btbd16	UTSW	7	130,398,825 (GRCm39)	missense	probably damaging	1.00
R8429:Btbd16	UTSW	7	130,397,067 (GRCm39)	missense	probably benign
R9142:Btbd16	UTSW	7	130,417,516 (GRCm39)	missense	probably damaging	1.00
R9143:Btbd16	UTSW	7	130,417,516 (GRCm39)	missense	probably damaging	1.00
R9161:Btbd16	UTSW	7	130,417,516 (GRCm39)	missense	probably damaging	1.00
R9214:Btbd16	UTSW	7	130,381,437 (GRCm39)	critical splice donor site	probably null
R9266:Btbd16	UTSW	7	130,417,516 (GRCm39)	missense	probably damaging	1.00
R9267:Btbd16	UTSW	7	130,417,516 (GRCm39)	missense	probably damaging	1.00
R9269:Btbd16	UTSW	7	130,417,516 (GRCm39)	missense	probably damaging	1.00
R9360:Btbd16	UTSW	7	130,417,516 (GRCm39)	missense	probably damaging	1.00
R9362:Btbd16	UTSW	7	130,417,516 (GRCm39)	missense	probably damaging	1.00
R9392:Btbd16	UTSW	7	130,417,516 (GRCm39)	missense	probably damaging	1.00
R9418:Btbd16	UTSW	7	130,417,516 (GRCm39)	missense	probably damaging	1.00
R9420:Btbd16	UTSW	7	130,417,516 (GRCm39)	missense	probably damaging	1.00
R9431:Btbd16	UTSW	7	130,417,516 (GRCm39)	missense	probably damaging	1.00
R9610:Btbd16	UTSW	7	130,407,595 (GRCm39)	missense	probably benign	0.05
R9611:Btbd16	UTSW	7	130,407,595 (GRCm39)	missense	probably benign	0.05
X0064:Btbd16	UTSW	7	130,424,900 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACTGGTCTCTTAAGTCACGG -3'
(R):5'- AGCAAACTATGTACCCAGCATG -3'

Sequencing Primer
(F):5'- AAGTCACGGCTTTCAGTAGC -3'
(R):5'- ATGTACCCAGCATGCTATCAGTGG -3'

Posted On

2016-12-20