Mutagenetix > Incidental Mutations

Incidental Mutation 'R7255:Btbd16'

564204

Institutional Source

Beutler Lab

Gene Symbol

Btbd16

Ensembl Gene

ENSMUSG00000040298

Gene Name

BTB (POZ) domain containing 16

Synonyms

E330040A16Rik

MMRRC Submission

Accession Numbers

Genbank: NM_001081038.2; Ensembl: ENSMUST00000048453

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7255 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130774069-130825899 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130785992 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 114 (I114F)

Ref Sequence

ENSEMBL: ENSMUSP00000035433 (fasta)

Gene Model

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

AlphaFold

E9Q173

Predicted Effect

probably benign
Transcript: ENSMUST00000048453
AA Change: I114F

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000035433
Gene: ENSMUSG00000040298
AA Change: I114F

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
AA Change: I114F

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208593
AA Change: I98F

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (66/68)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	G	A	11: 23,620,465	P145L	probably benign	Het
9530003J23Rik	T	C	10: 117,234,422	H150R	probably benign	Het
Aldh1a7	A	G	19: 20,714,728	S234P	probably damaging	Het
Arhgap28	T	C	17: 67,853,004	H650R	probably damaging	Het
Asic1	A	G	15: 99,697,457	D355G	probably damaging	Het
Atp8b1	T	A	18: 64,556,868	S598C	probably damaging	Het
Bcat1	C	A	6: 145,032,785	E237*	probably null	Het
Casp2	A	G	6: 42,268,907	D166G	probably damaging	Het
Cd86	CA	CAA	16: 36,606,555		probably null	Het
Cpsf1	G	A	15: 76,597,543	T1099M	probably damaging	Het
Crisp4	C	A	1: 18,130,231	A116S	probably damaging	Het
Cyb5r3	A	G	15: 83,160,165	I168T	probably damaging	Het
Dip2b	G	A	15: 100,209,627	D1407N	probably benign	Het
Dnajc8	A	G	4: 132,551,573	K201R	probably benign	Het
Dock10	C	T	1: 80,543,099		probably null	Het
Dopey2	C	A	16: 93,770,146	H1272N	probably damaging	Het
Dsc1	C	T	18: 20,097,273	R325Q	probably benign	Het
Enpp1	A	T	10: 24,645,315	I838K	possibly damaging	Het
Fcna	T	G	2: 25,626,028	D159A	probably damaging	Het
Flnc	G	T	6: 29,445,766	G840C	probably damaging	Het
Flt1	C	T	5: 147,580,406	A1024T	probably damaging	Het
Galc	T	C	12: 98,246,255	K207R	probably null	Het
Gbp2b	T	A	3: 142,608,117	L386Q	probably damaging	Het
Gm8297	T	A	14: 4,984,874	N48K	probably damaging	Het
Gm9639	G	A	10: 77,794,538	P180L	unknown	Het
Inpp5a	A	G	7: 139,511,448	N116S	probably damaging	Het
Ipo9	T	C	1: 135,385,988	E984G	probably benign	Het
Klra4	A	G	6: 130,059,642	F145L	probably damaging	Het
Lag3	A	G	6: 124,910,235	L123P	probably benign	Het
Med7	T	A	11: 46,440,995	M139K	probably damaging	Het
Mfsd2a	A	C	4: 122,952,021	L153R	possibly damaging	Het
Mup9	A	G	4: 60,421,337	V71A	probably benign	Het
Myo16	A	T	8: 10,499,169	Q927L	unknown	Het
Myo9b	T	C	8: 71,290,891	Y199H	probably damaging	Het
Nefm	A	G	14: 68,116,000	F406L	probably benign	Het
Olfr1123	T	A	2: 87,418,942	L296Q	probably damaging	Het
Olfr1333	A	T	4: 118,829,952	F162I	probably benign	Het
Pamr1	T	C	2: 102,611,584	F173L	probably damaging	Het
Pds5b	T	A	5: 150,796,667	D1205E	probably benign	Het
Plxna2	T	G	1: 194,752,103	F646V	probably benign	Het
Pnrc1	C	T	4: 33,248,045	G118D	probably benign	Het
Ppp1r16b	T	C	2: 158,761,391	F412S	probably benign	Het
Prcc	A	T	3: 87,870,091	V192E	probably damaging	Het
Psg19	A	G	7: 18,794,048	Y257H	probably benign	Het
Rfx7	T	G	9: 72,619,828	S1433R	possibly damaging	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Sbspon	G	T	1: 15,883,797	C86*	probably null	Het
Sdhb	A	G	4: 140,977,418	E230G	possibly damaging	Het
Sema6b	T	C	17: 56,125,336	T581A	probably benign	Het
Shkbp1	G	T	7: 27,342,748	T594K	possibly damaging	Het
Shpk	A	G	11: 73,199,660	S48G	probably benign	Het
Slc1a3	A	G	15: 8,642,999	V332A	possibly damaging	Het
Slc25a25	T	C	2: 32,421,372	E135G	possibly damaging	Het
Slc5a8	A	T	10: 88,909,631	D367V	probably damaging	Het
Slco1c1	A	G	6: 141,569,325	T649A	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spats1	T	A	17: 45,454,205	D163V	probably damaging	Het
Ssh2	T	A	11: 77,425,593	M304K	probably damaging	Het
Sulf1	T	A	1: 12,859,008	D166E	probably benign	Het
Syne1	A	G	10: 5,333,446	S1540P	probably damaging	Het
Tcf7l1	A	T	6: 72,627,347		probably null	Het
Tet1	A	T	10: 62,822,636	M1477K	probably benign	Het
Tlr5	T	C	1: 182,974,316	F395S	probably damaging	Het
Trrap	T	C	5: 144,858,954	L3847P	probably damaging	Het
Tsks	C	T	7: 44,952,688	S276L	probably benign	Het
Uggt1	T	C	1: 36,146,106	E1519G	probably damaging	Het
Vps13a	A	G	19: 16,654,339		probably null	Het
Wdfy4	A	G	14: 32,974,282	V2768A		Het
Wdr26	A	C	1: 181,181,324	I627R	probably benign	Het
Zfp160	T	A	17: 21,025,487	S100T	probably benign	Het

Other mutations in Btbd16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Btbd16	APN	7	130788822	missense	probably damaging	1.00
IGL01020:Btbd16	APN	7	130824361	missense	probably damaging	1.00
IGL01098:Btbd16	APN	7	130823245	missense	probably damaging	1.00
IGL01412:Btbd16	APN	7	130805819	critical splice acceptor site	probably null
1mM(1):Btbd16	UTSW	7	130821491	missense	possibly damaging	0.86
R0063:Btbd16	UTSW	7	130823166	missense	probably benign	0.25
R0063:Btbd16	UTSW	7	130823166	missense	probably benign	0.25
R0147:Btbd16	UTSW	7	130779594	missense	probably damaging	1.00
R0436:Btbd16	UTSW	7	130786053	missense	probably benign	0.10
R0715:Btbd16	UTSW	7	130788827	missense	probably damaging	1.00
R2127:Btbd16	UTSW	7	130784308	missense	probably benign	0.17
R2411:Btbd16	UTSW	7	130790224	missense	probably damaging	1.00
R3798:Btbd16	UTSW	7	130777140	missense	probably benign	0.43
R5595:Btbd16	UTSW	7	130823303	missense	possibly damaging	0.52
R5595:Btbd16	UTSW	7	130823304	missense	probably damaging	1.00
R5839:Btbd16	UTSW	7	130815808	critical splice donor site	probably null
R5933:Btbd16	UTSW	7	130784281	missense	probably damaging	0.99
R6029:Btbd16	UTSW	7	130819072	missense	probably benign	0.17
R7355:Btbd16	UTSW	7	130821443	missense	probably benign	0.01
R7405:Btbd16	UTSW	7	130805856	missense	probably benign	0.08
R7527:Btbd16	UTSW	7	130820472	missense	probably damaging	1.00
R7980:Btbd16	UTSW	7	130824367	missense	probably damaging	1.00
R8151:Btbd16	UTSW	7	130797095	missense	probably damaging	1.00
R8429:Btbd16	UTSW	7	130795337	missense	probably benign
R9142:Btbd16	UTSW	7	130815786	missense	probably damaging	1.00
R9143:Btbd16	UTSW	7	130815786	missense	probably damaging	1.00
R9161:Btbd16	UTSW	7	130815786	missense	probably damaging	1.00
R9214:Btbd16	UTSW	7	130779707	critical splice donor site	probably null
R9266:Btbd16	UTSW	7	130815786	missense	probably damaging	1.00
R9267:Btbd16	UTSW	7	130815786	missense	probably damaging	1.00
R9269:Btbd16	UTSW	7	130815786	missense	probably damaging	1.00
R9360:Btbd16	UTSW	7	130815786	missense	probably damaging	1.00
R9362:Btbd16	UTSW	7	130815786	missense	probably damaging	1.00
R9392:Btbd16	UTSW	7	130815786	missense	probably damaging	1.00
R9418:Btbd16	UTSW	7	130815786	missense	probably damaging	1.00
R9420:Btbd16	UTSW	7	130815786	missense	probably damaging	1.00
R9431:Btbd16	UTSW	7	130815786	missense	probably damaging	1.00
X0064:Btbd16	UTSW	7	130823170	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGACCTGGACAAGCCACTTG -3'
(R):5'- ATTAACGAGGACCACAGGC -3'

Sequencing Primer
(F):5'- CCATTGTGGGAGAGACGATGTATCC -3'
(R):5'- GAGGACCACAGGCCAAGC -3'

Posted On

2019-06-26