Mutagenetix > Incidental Mutation

Incidental Mutation 'R9214:Btbd16'

699068

Institutional Source

Beutler Lab

Gene Symbol

Btbd16

Ensembl Gene

ENSMUSG00000040298

Gene Name

BTB domain containing 16

Synonyms

E330040A16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9214 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130375799-130427629 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 130381437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000035433 (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 benign
Transcript: ENSMUST00000208593

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (64/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,890,653 (GRCm39)	D352G	probably benign	Het
Abi1	A	T	2: 22,831,989 (GRCm39)	Y447*	probably null	Het
Acot1	A	G	12: 84,064,189 (GRCm39)	Y124C		Het
Adgrf4	T	C	17: 42,978,704 (GRCm39)	N213S	possibly damaging	Het
Alg9	T	A	9: 50,717,545 (GRCm39)	Y443N	probably damaging	Het
Bhlhe22	A	G	3: 18,109,024 (GRCm39)	T25A	probably benign	Het
Bpifa1	C	A	2: 153,985,789 (GRCm39)	P35T	unknown	Het
Ccdc187	G	T	2: 26,183,409 (GRCm39)	T197K	probably benign	Het
Cd209b	A	G	8: 3,968,771 (GRCm39)	V295A	probably benign	Het
Cdcp3	C	T	7: 130,824,481 (GRCm39)	S192L	possibly damaging	Het
Clrn2	G	T	5: 45,617,518 (GRCm39)	A130S	probably benign	Het
Cnrip1	A	G	11: 17,004,740 (GRCm39)	T97A	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Col6a5	T	C	9: 105,758,940 (GRCm39)	T2089A	possibly damaging	Het
Cyfip1	T	A	7: 55,523,273 (GRCm39)		probably null	Het
Ddx1	A	G	12: 13,286,119 (GRCm39)	S278P	probably benign	Het
Dnah12	A	C	14: 26,445,060 (GRCm39)	E654D	probably benign	Het
Efcab7	T	C	4: 99,735,437 (GRCm39)	S154P	probably damaging	Het
Emcn	T	C	3: 137,047,029 (GRCm39)	F10S	probably damaging	Het
Fhip2a	A	G	19: 57,373,756 (GRCm39)	H672R	probably damaging	Het
Flg2	G	T	3: 93,110,884 (GRCm39)	A971S	unknown	Het
Gli2	A	T	1: 118,795,791 (GRCm39)	H121Q	probably damaging	Het
Gm3633	A	G	14: 42,460,359 (GRCm39)		probably benign	Het
Golga2	T	C	2: 32,195,822 (GRCm39)	L846P	probably damaging	Het
Golga7b	A	T	19: 42,255,440 (GRCm39)	I106F	probably damaging	Het
Hltf	T	C	3: 20,140,280 (GRCm39)	S460P	probably benign	Het
Hyal5	A	G	6: 24,876,403 (GRCm39)	Y92C	probably damaging	Het
Kif19b	G	A	5: 140,468,257 (GRCm39)	R649Q	probably benign	Het
Mapk1	T	A	16: 16,853,549 (GRCm39)	C84S	probably benign	Het
Marchf10	A	G	11: 105,281,100 (GRCm39)	V395A	probably benign	Het
Meltf	A	G	16: 31,697,763 (GRCm39)	T7A	probably benign	Het
Mfhas1	T	A	8: 36,057,730 (GRCm39)	V735D	probably damaging	Het
Mia2	G	T	12: 59,223,150 (GRCm39)	R486L	possibly damaging	Het
Mmp20	T	C	9: 7,628,327 (GRCm39)	L25P	probably benign	Het
Mprip	C	T	11: 59,650,901 (GRCm39)	T1535I	possibly damaging	Het
Mrpl9	T	A	3: 94,355,126 (GRCm39)	S233T	possibly damaging	Het
Muc21	T	A	17: 35,931,838 (GRCm39)	S783C	unknown	Het
Nckap5	A	C	1: 125,942,376 (GRCm39)	V1576G	probably benign	Het
Ntng1	T	C	3: 109,841,921 (GRCm39)	Y284C	probably damaging	Het
Numa1	T	A	7: 101,650,139 (GRCm39)	V1290D	probably damaging	Het
Or52l1	T	G	7: 104,829,587 (GRCm39)	Y326S	probably benign	Het
Pcdhgc4	A	T	18: 37,950,264 (GRCm39)	D560V	probably damaging	Het
Pla2g1b	A	G	5: 115,610,107 (GRCm39)	K84E	possibly damaging	Het
Pramel16	T	C	4: 143,675,750 (GRCm39)	I359V	probably benign	Het
Prrt4	C	T	6: 29,170,767 (GRCm39)	A562T	possibly damaging	Het
Rab6a	T	C	7: 100,275,786 (GRCm39)	F33S	probably damaging	Het
Rgs11	A	G	17: 26,427,260 (GRCm39)	Y397C	probably damaging	Het
Rnf43	A	T	11: 87,622,111 (GRCm39)	H277L	probably benign	Het
Ryr1	A	G	7: 28,785,187 (GRCm39)	S1842P	possibly damaging	Het
Slc25a34	C	T	4: 141,350,641 (GRCm39)	A123T	probably damaging	Het
Smoc2	A	G	17: 14,556,839 (GRCm39)	Y96C	probably damaging	Het
Sqle	A	G	15: 59,194,765 (GRCm39)	E267G	probably benign	Het
Sspo	G	A	6: 48,440,869 (GRCm39)	R1777H	possibly damaging	Het
Stx6	T	A	1: 155,067,210 (GRCm39)	N133K	probably benign	Het
Taf7l2	T	C	10: 115,948,903 (GRCm39)	T208A	probably benign	Het
Thoc5	A	T	11: 4,864,303 (GRCm39)	Q320L	probably benign	Het
Tmc4	G	C	7: 3,670,497 (GRCm39)	C531W	probably damaging	Het
Tmigd1	A	G	11: 76,801,031 (GRCm39)	T173A	probably damaging	Het
Tpp2	A	C	1: 44,031,514 (GRCm39)	M1111L	probably benign	Het
Ttc21a	T	C	9: 119,772,941 (GRCm39)	V206A	probably benign	Het
Ulk1	A	T	5: 110,936,663 (GRCm39)	V758E	possibly damaging	Het
Vdr	T	A	15: 97,767,600 (GRCm39)	H130L	probably benign	Het
Vps13b	A	G	15: 35,623,892 (GRCm39)	T1270A	probably damaging	Het
Zc3h13	A	G	14: 75,560,991 (GRCm39)	D527G	unknown	Het
Zfp512	C	T	5: 31,637,434 (GRCm39)	R508W	probably damaging	Het
Zfp606	A	G	7: 12,215,026 (GRCm39)	T85A	unknown	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
R5839:Btbd16	UTSW	7	130,417,538 (GRCm39)	critical splice donor site	probably null
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
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'- TGAAGGTAAAGCCCCTCTCTTTC -3'
(R):5'- CCTGTGAGGGTCTGAAGTTC -3'

Sequencing Primer
(F):5'- CTTTGATCAAGCAGTGCAGGACTC -3'
(R):5'- GTCACACTGACAGACCTGG -3'

Posted On

2022-02-07