Mutagenetix > Incidental Mutations

Incidental Mutation 'R7527:Btbd16'

583066

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 #

R7527 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130774069-130825899 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130820472 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 390 (D390V)

Ref Sequence

ENSEMBL: ENSMUSP00000035433 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000048453
AA Change: D390V

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

SMART Domains

Protein: ENSMUSP00000035433
Gene: ENSMUSG00000040298
AA Change: D390V

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 damaging
Transcript: ENSMUST00000208593
AA Change: D374V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	T	A	1: 136,214,384	D659V	possibly damaging	Het
Abca5	A	T	11: 110,327,730		probably null	Het
Abcc10	A	G	17: 46,312,904	S810P	possibly damaging	Het
Adam22	T	C	5: 8,082,239	H138R	possibly damaging	Het
Adcyap1	T	A	17: 93,202,829	L95*	probably null	Het
Adgrl4	C	A	3: 151,439,250	T12N	probably benign	Het
Alpi	T	C	1: 87,098,955	N438S	probably benign	Het
Ankrd44	T	C	1: 54,648,324	N979D	probably benign	Het
Ankrd60	A	C	2: 173,578,173	S57A	probably benign	Het
Arfgef3	G	A	10: 18,646,629	P550S	probably benign	Het
Cacna2d4	T	C	6: 119,271,247	V374A	probably benign	Het
Cdcp1	A	T	9: 123,185,107	F201I	probably benign	Het
Cdh15	A	T	8: 122,862,126	D313V	probably damaging	Het
Cfap157	A	G	2: 32,779,878	L231P	possibly damaging	Het
Chl1	T	G	6: 103,711,201	C1001G	probably damaging	Het
Cmtr2	A	G	8: 110,222,138	H360R	probably damaging	Het
Csmd1	C	T	8: 16,211,718	A922T	probably damaging	Het
Fam129c	C	G	8: 71,606,698	C568W	probably damaging	Het
Fancg	C	T	4: 43,010,116		probably benign	Het
Glt8d2	A	T	10: 82,652,569	S356T	unknown	Het
Gm19410	T	A	8: 35,802,232	C1074S	probably damaging	Het
Gm3259	A	G	5: 95,342,550	D347G	probably benign	Het
Gm9195	C	T	14: 72,473,870	C376Y	possibly damaging	Het
Gnai3	G	A	3: 108,118,377	R129C		Het
Golph3	T	G	15: 12,343,318		probably null	Het
Hist2h2bb	T	A	3: 96,269,870	V40D	possibly damaging	Het
Hk1	C	A	10: 62,304,782	V105F	probably damaging	Het
Hoxd8	A	G	2: 74,705,657	Y37C	probably damaging	Het
Jun	G	T	4: 95,050,997	P92Q	probably damaging	Het
Klhl14	C	T	18: 21,651,540	V277I	probably damaging	Het
Lrrc51	C	T	7: 101,920,636		probably null	Het
Man2c1	T	A	9: 57,137,816	Y429*	probably null	Het
Myo18a	T	A	11: 77,843,580	C1476S	probably benign	Het
Neb	G	C	2: 52,176,623	T6155R	probably damaging	Het
Nuf2	T	C	1: 169,498,853	E443G	possibly damaging	Het
Olfr1164	A	T	2: 88,093,610	C109S	probably damaging	Het
Olfr1211	A	G	2: 88,930,090	V75A	probably benign	Het
Olfr16	C	T	1: 172,956,944	H50Y	probably benign	Het
Olfr851	A	G	9: 19,497,389	I214V	probably damaging	Het
Osmr	A	G	15: 6,827,122	S515P	probably damaging	Het
Pik3r5	T	C	11: 68,476,351	L84P	probably damaging	Het
Plcl1	T	C	1: 55,697,114	I538T	probably damaging	Het
Plxnb1	G	T	9: 109,100,861	V262L	probably damaging	Het
Pprc1	T	C	19: 46,069,365	S1320P	unknown	Het
Prap1	G	A	7: 140,096,207		probably null	Het
Psg23	A	T	7: 18,614,774	V36D	probably damaging	Het
Ptgr1	A	G	4: 58,982,887	Y49H	probably damaging	Het
Ptprr	A	G	10: 116,251,199	T528A	probably benign	Het
Rapgef6	T	C	11: 54,634,961	S541P	unknown	Het
Rnf17	A	T	14: 56,516,438	D1534V	probably damaging	Het
Sdk1	T	G	5: 141,792,976	S236R	possibly damaging	Het
Sepsecs	A	G	5: 52,644,051	M423T	possibly damaging	Het
Serpina1f	T	G	12: 103,691,908	Y246S	probably benign	Het
Sftpb	T	A	6: 72,305,064	V46E	possibly damaging	Het
Slc4a1ap	G	A	5: 31,534,131	V424I	probably benign	Het
Slc5a4b	G	A	10: 76,110,908	T10M	probably benign	Het
Slc6a16	T	C	7: 45,272,639	W664R	probably damaging	Het
Snx8	T	C	5: 140,356,072	E138G	probably benign	Het
Sox6	T	C	7: 115,777,173	E108G	probably benign	Het
Sptan1	A	T	2: 29,980,197	I120F	probably damaging	Het
Sptbn4	T	C	7: 27,375,590	E1452G	possibly damaging	Het
Stac2	T	A	11: 98,039,626	E372V	probably damaging	Het
Taco1	A	T	11: 106,071,969	I161F	probably damaging	Het
Taf1d	C	A	9: 15,308,837	D127E	possibly damaging	Het
Tenm2	T	A	11: 36,206,976	N482Y	probably damaging	Het
Tenm3	A	G	8: 48,276,600	V1457A	possibly damaging	Het
Tmem200c	A	T	17: 68,841,676	H418L	probably benign	Het
Tmem81	T	C	1: 132,508,146	V230A	probably benign	Het
Tnn	C	T	1: 160,118,504	V915I	possibly damaging	Het
Trav8d-2	A	T	14: 53,042,697	Y48F	possibly damaging	Het
Trpm2	T	C	10: 77,966,060	N57S	probably benign	Het
Ttn	G	A	2: 76,768,039	T19510M	probably damaging	Het
Ubl7	T	C	9: 57,912,884	L73P	unknown	Het
Uso1	A	G	5: 92,199,875	D845G	possibly damaging	Het
Utrn	G	T	10: 12,401,382	P3397Q	possibly damaging	Het
Vmn2r60	AG	A	7: 42,195,734		probably null	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
R7255:Btbd16	UTSW	7	130785992	missense	probably benign	0.04
R7355:Btbd16	UTSW	7	130821443	missense	probably benign	0.01
R7405:Btbd16	UTSW	7	130805856	missense	probably benign	0.08
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
X0064:Btbd16	UTSW	7	130823170	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCATCCTCTGGAAACACTGG -3'
(R):5'- TGCTGACTGGTCTGTTCCAC -3'

Sequencing Primer
(F):5'- CACTGGGAATATAAACAGTACTTGG -3'
(R):5'- ATGAACTCGATTTCCTAGGGC -3'

Posted On

2019-10-17