Mutagenetix > Incidental Mutation

Incidental Mutation 'R1763:Btbd9'

193233

Institutional Source

Beutler Lab

Gene Symbol

Btbd9

Ensembl Gene

ENSMUSG00000062202

Gene Name

BTB (POZ) domain containing 9

Synonyms

1700023F20Rik

MMRRC Submission

039795-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1763 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30215524-30576287 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30334297 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 397 (N397S)

Ref Sequence

ENSEMBL: ENSMUSP00000127300 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079924] [ENSMUST00000168787]

AlphaFold

Q8C726

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079924
AA Change: N397S

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000078845
Gene: ENSMUSG00000062202
AA Change: N397S

Domain	Start	End	E-Value	Type
BTB	36	137	3.52e-25	SMART
BACK	143	240	1.84e-18	SMART
Pfam:F5_F8_type_C	283	405	3.9e-11	PFAM
Pfam:F5_F8_type_C	431	554	6.3e-12	PFAM
low complexity region	585	612	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168787
AA Change: N397S

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127300
Gene: ENSMUSG00000062202
AA Change: N397S

Domain	Start	End	E-Value	Type
BTB	36	137	3.52e-25	SMART
BACK	143	240	1.84e-18	SMART
Pfam:F5_F8_type_C	278	405	1.1e-8	PFAM
Pfam:F5_F8_type_C	433	554	1.4e-8	PFAM
low complexity region	585	612	N/A	INTRINSIC

Meta Mutation Damage Score

0.2102

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

98% (85/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele show hyperactivity, unidirectional circling, sleep disturbances, thermal sensory alterations, increased serum iron levels, altered serotonin metabolism, enhanced long-term potentiation and paired-pulse ratios, and enhanced cued and contextual fear memory. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	A	3: 122,110,681	V794M	probably benign	Het
Abca4	A	T	3: 122,163,830	T772S	probably damaging	Het
Acox3	G	A	5: 35,608,339		probably null	Het
Adamts17	A	G	7: 67,147,715	N1060S	probably damaging	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Als2	T	C	1: 59,174,991	Y1346C	probably benign	Het
Apol10b	A	T	15: 77,585,015	F321I	probably benign	Het
Atp5f1	A	G	3: 105,951,589		probably null	Het
Bloc1s5	A	G	13: 38,619,084		probably benign	Het
Cacna1d	A	G	14: 30,099,196	V1121A	probably benign	Het
Cad	G	A	5: 31,060,951	V460I	probably damaging	Het
Caprin2	A	T	6: 148,843,121	D935E	probably damaging	Het
Ccdc150	A	T	1: 54,354,636	K686N	probably benign	Het
Ccnt2	T	C	1: 127,799,406	F186L	possibly damaging	Het
Cd5l	G	A	3: 87,367,880		probably null	Het
Chrna7	A	G	7: 63,099,252	V494A	probably benign	Het
Clec2i	T	G	6: 128,895,425	Y198*	probably null	Het
Col22a1	A	G	15: 72,007,176	V44A	probably damaging	Het
Cspg4	T	A	9: 56,886,979	I666N	probably damaging	Het
Cyp3a16	A	T	5: 145,465,031		probably null	Het
Dlk1	G	T	12: 109,458,119	C102F	probably damaging	Het
Dscc1	T	A	15: 55,084,139	H215L	probably damaging	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 55,080,176		probably benign	Het
Dus1l	C	G	11: 120,795,671	G15R	probably benign	Het
Eps8l1	G	T	7: 4,471,823	V268L	probably benign	Het
F2	A	C	2: 91,634,906	C104W	probably damaging	Het
F5	C	A	1: 164,192,535	Q860K	probably benign	Het
Fmn2	T	C	1: 174,502,266	L74P	unknown	Het
Frmd6	G	A	12: 70,893,622	R347Q	possibly damaging	Het
Gabbr1	T	G	17: 37,054,767	S158A	probably damaging	Het
Galc	T	C	12: 98,234,266	N295S	probably damaging	Het
Gm436	A	G	4: 144,669,959	V401A	probably benign	Het
Gm6408	A	T	5: 146,482,322	N49I	probably damaging	Het
Grm1	T	A	10: 11,079,866	T225S	possibly damaging	Het
Grm8	C	T	6: 27,285,867	V849I	possibly damaging	Het
Hmcn2	A	G	2: 31,314,590	D59G	probably damaging	Het
Iars	G	A	13: 49,723,077		probably null	Het
Ifi27	C	T	12: 103,437,682	A127V	possibly damaging	Het
Ikbip	A	G	10: 91,096,481	N329S	probably damaging	Het
Ikbke	T	C	1: 131,265,877	T479A	probably benign	Het
Krt12	T	A	11: 99,416,060	N472I	probably damaging	Het
Lmnb2	A	T	10: 80,907,191	L193Q	probably damaging	Het
Lrriq4	T	C	3: 30,650,252	V128A	probably benign	Het
Map4k4	C	A	1: 40,000,757		probably benign	Het
Mtmr7	T	C	8: 40,551,811	T575A	probably benign	Het
Myh13	G	A	11: 67,334,576	A256T	probably benign	Het
Napepld	A	G	5: 21,683,410	Y14H	probably benign	Het
Npr1	T	C	3: 90,459,337	T552A	probably damaging	Het
Nudt15	A	G	14: 73,521,647	F127S	probably benign	Het
Nwd2	T	A	5: 63,808,271	S1733T	probably benign	Het
Olfr1189	A	G	2: 88,592,436	I211V	probably benign	Het
Olfr1257	G	A	2: 89,881,129	G101E	probably damaging	Het
Olfr1348	T	G	7: 6,501,441	I262L	probably benign	Het
Olfr907	A	G	9: 38,499,038	Y123C	probably damaging	Het
Olfr96	T	C	17: 37,225,430	F102L	probably benign	Het
Paqr7	A	T	4: 134,507,098	I89F	probably benign	Het
Pidd1	C	A	7: 141,439,630	V706L	probably benign	Het
Polr3c	A	T	3: 96,713,595	I469N	probably damaging	Het
Ppip5k1	A	G	2: 121,348,547	Y233H	probably damaging	Het
Psmc3	A	G	2: 91,055,995	T166A	possibly damaging	Het
Ptchd3	A	T	11: 121,842,542	I753L	probably benign	Het
Rad21	T	C	15: 51,978,170	K50R	probably damaging	Het
Rad54b	A	G	4: 11,604,989	E479G	possibly damaging	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Rgs20	C	T	1: 4,910,640	R154Q	probably damaging	Het
Sbf1	T	C	15: 89,294,425	D1449G	probably damaging	Het
Sema4g	C	T	19: 45,001,605	R708*	probably null	Het
Sept9	T	C	11: 117,290,428	I18T	probably benign	Het
Serpinb6b	A	G	13: 32,978,058	E280G	probably damaging	Het
Slamf6	T	C	1: 171,942,587		probably benign	Het
Slc6a21	G	A	7: 45,287,734	W554*	probably null	Het
Slco1a4	A	C	6: 141,812,731	I518R	probably benign	Het
Stab1	T	A	14: 31,168,416	Q26L	probably benign	Het
Stox1	A	G	10: 62,667,965	F104L	probably damaging	Het
Suco	T	C	1: 161,834,949	K638E	possibly damaging	Het
Synpo	T	C	18: 60,602,784	K458E	probably damaging	Het
Szt2	A	T	4: 118,372,368	W2820R	unknown	Het
Tmtc1	C	A	6: 148,294,618	G499W	probably damaging	Het
Tonsl	A	C	15: 76,638,066	S242R	probably damaging	Het
Trpc4	G	T	3: 54,194,822	S47I	possibly damaging	Het
Zfp106	G	A	2: 120,520,428	R1581C	probably benign	Het
Zfp27	A	G	7: 29,895,376	L388P	possibly damaging	Het

Other mutations in Btbd9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01519:Btbd9	APN	17	30299601	missense	possibly damaging	0.71
IGL01651:Btbd9	APN	17	30220417	missense	unknown
IGL01814:Btbd9	APN	17	30299535	missense	probably benign	0.01
IGL01820:Btbd9	APN	17	30527409	missense	possibly damaging	0.82
IGL02014:Btbd9	APN	17	30517150	missense	probably damaging	0.98
IGL02075:Btbd9	APN	17	30274936	nonsense	probably null
IGL02390:Btbd9	APN	17	30524814	missense	probably benign	0.22
IGL02414:Btbd9	APN	17	30220559	missense	possibly damaging	0.95
IGL02748:Btbd9	APN	17	30334297	missense	possibly damaging	0.81
crumbs	UTSW	17	30299736	splice site	probably null
grain	UTSW	17	30274942	missense	possibly damaging	0.92
R0023:Btbd9	UTSW	17	30530214	missense	probably damaging	0.96
R0023:Btbd9	UTSW	17	30530214	missense	probably damaging	0.96
R0122:Btbd9	UTSW	17	30274942	missense	possibly damaging	0.92
R0123:Btbd9	UTSW	17	30274942	missense	possibly damaging	0.92
R0134:Btbd9	UTSW	17	30274942	missense	possibly damaging	0.92
R0189:Btbd9	UTSW	17	30274942	missense	possibly damaging	0.92
R0190:Btbd9	UTSW	17	30274942	missense	possibly damaging	0.92
R0226:Btbd9	UTSW	17	30274942	missense	possibly damaging	0.92
R0268:Btbd9	UTSW	17	30274942	missense	possibly damaging	0.92
R0344:Btbd9	UTSW	17	30274942	missense	possibly damaging	0.92
R0427:Btbd9	UTSW	17	30274942	missense	possibly damaging	0.92
R0462:Btbd9	UTSW	17	30530217	missense	possibly damaging	0.82
R0645:Btbd9	UTSW	17	30524967	missense	probably damaging	0.96
R0973:Btbd9	UTSW	17	30299633	missense	probably damaging	0.99
R0973:Btbd9	UTSW	17	30299633	missense	probably damaging	0.99
R0974:Btbd9	UTSW	17	30299633	missense	probably damaging	0.99
R1061:Btbd9	UTSW	17	30527435	missense	probably benign	0.00
R1781:Btbd9	UTSW	17	30513593	missense	probably damaging	1.00
R1902:Btbd9	UTSW	17	30530228	missense	probably damaging	0.98
R1995:Btbd9	UTSW	17	30274930	missense	possibly damaging	0.93
R2224:Btbd9	UTSW	17	30527346	missense	probably damaging	0.98
R2237:Btbd9	UTSW	17	30334328	missense	probably benign
R3684:Btbd9	UTSW	17	30334307	missense	probably damaging	0.99
R3800:Btbd9	UTSW	17	30513659	missense	possibly damaging	0.89
R4403:Btbd9	UTSW	17	30485932	intron	probably benign
R4492:Btbd9	UTSW	17	30527571	missense	probably damaging	0.99
R4654:Btbd9	UTSW	17	30485587	intron	probably benign
R4854:Btbd9	UTSW	17	30524865	missense	probably damaging	0.98
R5710:Btbd9	UTSW	17	30228868	missense	probably benign	0.16
R5963:Btbd9	UTSW	17	30334218	splice site	probably null
R6295:Btbd9	UTSW	17	30299736	splice site	probably null
R6422:Btbd9	UTSW	17	30530256	missense	probably benign
R7023:Btbd9	UTSW	17	30527572	missense	probably benign	0.02
R7826:Btbd9	UTSW	17	30334327	missense	probably benign	0.42
R7922:Btbd9	UTSW	17	30274884	missense	probably benign	0.01
R7962:Btbd9	UTSW	17	30517203	missense	probably damaging	0.99
R8265:Btbd9	UTSW	17	30334304	missense	possibly damaging	0.86
R8786:Btbd9	UTSW	17	30530170	missense	probably damaging	0.97
R9541:Btbd9	UTSW	17	30220464	missense	possibly damaging	0.96
R9591:Btbd9	UTSW	17	30517248	missense	probably damaging	1.00
R9703:Btbd9	UTSW	17	30530226	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GCAGATCGGAGCAATTCCCAAAATG -3'
(R):5'- GGGAAGCTGGTTGTTAATCTCCAGG -3'

Sequencing Primer
(F):5'- TCTGTCACTCAGCCATAGGG -3'
(R):5'- CTGAATAGTCCCTAGAGTGATTCC -3'

Posted On

2014-05-23