Mutagenetix > Incidental Mutation

Incidental Mutation 'R9142:Btbd16'

694391

Institutional Source

Beutler Lab

Gene Symbol

Btbd16

Ensembl Gene

ENSMUSG00000040298

Gene Name

BTB domain containing 16

Synonyms

E330040A16Rik

MMRRC Submission

068934-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9142 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130375799-130427629 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 130417516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 344 (R344C)

Ref Sequence

ENSEMBL: ENSMUSP00000035433 (fasta)

Gene Model

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

AlphaFold

E9Q173

Predicted Effect

probably damaging
Transcript: ENSMUST00000048453
AA Change: R344C

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

SMART Domains

Protein: ENSMUSP00000035433
Gene: ENSMUSG00000040298
AA Change: R344C

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: R328C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprs	C	A	4: 126,215,360 (GRCm39)	G35V	probably damaging	Het
Apob	A	C	12: 8,062,705 (GRCm39)	D3729A	possibly damaging	Het
App	G	A	16: 84,900,127 (GRCm39)	H108Y	probably damaging	Het
Arap3	G	A	18: 38,112,934 (GRCm39)	A1092V	possibly damaging	Het
Arid3a	T	C	10: 79,787,612 (GRCm39)	S550P	unknown	Het
Armc2	T	G	10: 41,851,404 (GRCm39)	E259D	probably benign	Het
Atp13a2	A	G	4: 140,729,364 (GRCm39)	D566G	probably damaging	Het
Bnc2	A	G	4: 84,474,111 (GRCm39)	C12R	probably benign	Het
Cc2d2b	C	T	19: 40,753,845 (GRCm39)	R123*	probably null	Het
Cdc37l1	T	A	19: 28,989,402 (GRCm39)	H286Q	possibly damaging	Het
Cfap54	A	T	10: 92,820,097 (GRCm39)	L1239Q	possibly damaging	Het
Cfap58	T	C	19: 47,974,993 (GRCm39)		probably null	Het
Col6a3	A	T	1: 90,706,566 (GRCm39)	D2789E	unknown	Het
Ctnna2	G	T	6: 76,879,423 (GRCm39)		probably benign	Het
Dazl	A	G	17: 50,590,178 (GRCm39)	V271A	probably benign	Het
Dennd4c	A	T	4: 86,755,637 (GRCm39)	N1610Y	probably benign	Het
Dusp13b	T	A	14: 21,792,756 (GRCm39)	K56N	probably benign	Het
Erbb2	T	A	11: 98,312,884 (GRCm39)	I149N	probably damaging	Het
Erbb4	A	T	1: 68,388,552 (GRCm39)	C217S	probably damaging	Het
Fbxw21	A	G	9: 108,985,413 (GRCm39)	C122R	probably damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Foxm1	T	A	6: 128,344,298 (GRCm39)	I182N	probably damaging	Het
Ggnbp2	T	C	11: 84,730,886 (GRCm39)	N381S	possibly damaging	Het
Gja3	T	C	14: 57,274,048 (GRCm39)	E108G	probably benign	Het
Gm40460	C	A	7: 141,794,499 (GRCm39)	G106V	unknown	Het
Gm9736	A	G	10: 77,586,849 (GRCm39)	C114R	unknown	Het
Gpbp1	A	T	13: 111,563,033 (GRCm39)	D492E	unknown	Het
Gper1	T	C	5: 139,412,312 (GRCm39)	V219A	possibly damaging	Het
Gtf2e1	C	T	16: 37,356,364 (GRCm39)	R56Q	probably benign	Het
H2ac10	T	C	13: 23,718,151 (GRCm39)	L24P	probably damaging	Het
Ide	T	C	19: 37,307,898 (GRCm39)	N38S		Het
Kat6a	T	A	8: 23,430,072 (GRCm39)	M1809K	unknown	Het
Kdm2b	A	T	5: 123,127,112 (GRCm39)		probably benign	Het
Kif7	A	T	7: 79,356,585 (GRCm39)	M702K	probably benign	Het
Lrrtm4	T	A	6: 79,999,426 (GRCm39)	N279K	probably damaging	Het
Mcrip1	G	A	11: 120,435,542 (GRCm39)	P31L	probably damaging	Het
Mettl25b	A	G	3: 87,831,195 (GRCm39)	I444T	probably benign	Het
Nf1	T	A	11: 79,362,315 (GRCm39)	S1497R	probably damaging	Het
Nf1	T	A	11: 79,366,688 (GRCm39)	I1607N	probably damaging	Het
Nrde2	G	T	12: 100,117,518 (GRCm39)	T47K	probably benign	Het
Or5w12	C	T	2: 87,502,313 (GRCm39)	V133I	probably benign	Het
Or6b2b	T	G	1: 92,419,411 (GRCm39)	E22A	probably benign	Het
Or6c1	T	C	10: 129,518,285 (GRCm39)	T108A	probably benign	Het
Ppargc1a	G	A	5: 51,652,146 (GRCm39)	T184I	possibly damaging	Het
Ppp1r15a	T	C	7: 45,173,920 (GRCm39)	D296G	probably damaging	Het
Prl7c1	C	T	13: 27,964,751 (GRCm39)		probably benign	Het
Prss42	G	T	9: 110,628,228 (GRCm39)	R124L	possibly damaging	Het
Psmd1	T	G	1: 86,064,817 (GRCm39)	Y950D	probably damaging	Het
Ptprr	A	T	10: 116,024,119 (GRCm39)	L250F	possibly damaging	Het
Rabgef1	T	A	5: 130,237,554 (GRCm39)	M208K	possibly damaging	Het
Rps6ka2	A	G	17: 7,437,793 (GRCm39)	Y17C	probably damaging	Het
Scart2	T	A	7: 139,877,806 (GRCm39)	D929E	probably damaging	Het
Sec23ip	T	A	7: 128,363,226 (GRCm39)	C463S	probably damaging	Het
Serpina3n	A	G	12: 104,379,710 (GRCm39)	T368A	probably damaging	Het
Sez6l	C	T	5: 112,609,083 (GRCm39)	A589T	probably benign	Het
Smok2b	G	A	17: 13,453,637 (GRCm39)		probably null	Het
Spag5	T	A	11: 78,192,823 (GRCm39)	Y52N	possibly damaging	Het
Tenm3	G	A	8: 48,788,548 (GRCm39)	S494L	unknown	Het
Top3b	T	C	16: 16,701,299 (GRCm39)	Y204H	probably damaging	Het
Trim43b	C	T	9: 88,973,452 (GRCm39)	V94M	possibly damaging	Het
Trps1	T	G	15: 50,524,658 (GRCm39)	I1091L	probably damaging	Het
Ttk	G	A	9: 83,725,741 (GRCm39)	R221Q	probably damaging	Het
Ttn	A	C	2: 76,549,466 (GRCm39)	M31737R	probably damaging	Het
Uso1	T	A	5: 92,335,125 (GRCm39)	L495*	probably null	Het
Usp19	A	G	9: 108,372,284 (GRCm39)	D447G	possibly damaging	Het
Zdhhc2	A	G	8: 40,920,563 (GRCm39)	E274G	probably damaging	Het
Zfp106	T	A	2: 120,350,935 (GRCm39)	Y1595F	probably damaging	Het
Zfp932	A	T	5: 110,157,520 (GRCm39)	H406L	probably damaging	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
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'- TCTAGCCTTGCTGGGGAAAC -3'
(R):5'- AGCATGCTATCAGTGGACG -3'

Sequencing Primer
(F):5'- GGAAACCACTGGTCTCTTAAGTC -3'
(R):5'- GTTACTGAGACCAAAGTCGCACTTC -3'

Posted On

2022-01-20