Mutagenetix > Incidental Mutation

Incidental Mutation 'R0268:Btbd9'

35109

Institutional Source

Beutler Lab

Gene Symbol

Btbd9

Ensembl Gene

ENSMUSG00000062202

Gene Name

BTB domain containing 9

Synonyms

1700023F20Rik

MMRRC Submission

038494-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0268 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30434498-30795462 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30493916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 492 (D492N)

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: D492N

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078845
Gene: ENSMUSG00000062202
AA Change: D492N

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: D492N

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127300
Gene: ENSMUSG00000062202
AA Change: D492N

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

0.5135

Coding Region Coverage

1x: 98.7%
3x: 97.7%
10x: 95.9%
20x: 93.0%

Validation Efficiency

98% (93/95)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	T	A	7: 29,274,027 (GRCm39)		noncoding transcript	Het
Aadacl4	A	T	4: 144,349,565 (GRCm39)	H274L	probably benign	Het
Aldh1a7	T	A	19: 20,686,866 (GRCm39)		probably null	Het
Ap3m1	A	C	14: 21,087,170 (GRCm39)		probably benign	Het
Atp5f1a	C	A	18: 77,867,895 (GRCm39)	N356K	probably damaging	Het
AU021092	A	T	16: 5,040,031 (GRCm39)	M31K	possibly damaging	Het
Avpr1a	T	C	10: 122,285,614 (GRCm39)	V302A	probably damaging	Het
Bicral	A	G	17: 47,124,978 (GRCm39)		probably benign	Het
Casp8ap2	A	T	4: 32,644,079 (GRCm39)	I1051F	probably damaging	Het
Cd209e	T	C	8: 3,899,125 (GRCm39)	I196V	probably benign	Het
Cdc42bpa	G	T	1: 179,983,347 (GRCm39)		probably benign	Het
Cdcp3	A	G	7: 130,839,905 (GRCm39)	D609G	probably damaging	Het
Clec16a	T	A	16: 10,462,692 (GRCm39)	L670*	probably null	Het
Cmtm2b	A	G	8: 105,049,066 (GRCm39)	E27G	probably damaging	Het
Col4a1	T	A	8: 11,317,588 (GRCm39)		probably benign	Het
Cyp26b1	A	T	6: 84,551,554 (GRCm39)	F221I	probably damaging	Het
D430041D05Rik	G	C	2: 103,998,295 (GRCm39)	P1836R	probably damaging	Het
Dennd6b	T	C	15: 89,080,432 (GRCm39)	Q56R	probably benign	Het
Dip2c	G	A	13: 9,687,186 (GRCm39)	R1270H	probably damaging	Het
Dlg1	T	C	16: 31,503,011 (GRCm39)	C73R	probably benign	Het
Dnah8	A	G	17: 30,988,681 (GRCm39)	D3217G	probably damaging	Het
Dtx1	T	C	5: 120,819,356 (GRCm39)	E614G	probably damaging	Het
Dut	C	A	2: 125,099,011 (GRCm39)	A166E	probably damaging	Het
Ebf1	C	A	11: 44,534,240 (GRCm39)	D166E	probably damaging	Het
Egln2	A	T	7: 26,864,672 (GRCm39)	D84E	possibly damaging	Het
Exosc7	T	A	9: 122,948,025 (GRCm39)	S65T	probably benign	Het
Fam83e	G	A	7: 45,376,334 (GRCm39)	R349Q	probably benign	Het
Fbxl17	G	A	17: 63,692,062 (GRCm39)		probably benign	Het
Fras1	A	G	5: 96,884,868 (GRCm39)	N2582S	probably damaging	Het
Fubp1	T	C	3: 151,925,350 (GRCm39)	V164A	probably damaging	Het
Gfral	A	T	9: 76,104,383 (GRCm39)	C210S	probably damaging	Het
Gls	GGCTGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTGCTG	1: 52,271,853 (GRCm39)		probably benign	Het
Hcn4	A	C	9: 58,767,445 (GRCm39)	E1002A	unknown	Het
Hcrtr2	A	G	9: 76,135,470 (GRCm39)	V449A	probably benign	Het
Hectd1	T	C	12: 51,815,891 (GRCm39)	S1394G	possibly damaging	Het
Hectd1	C	A	12: 51,815,890 (GRCm39)	S1394I	probably damaging	Het
Hecw2	A	G	1: 53,965,857 (GRCm39)		probably benign	Het
Herc3	A	G	6: 58,845,613 (GRCm39)		probably benign	Het
Ipo4	T	C	14: 55,863,399 (GRCm39)	Q1073R	possibly damaging	Het
Itsn2	G	A	12: 4,750,333 (GRCm39)	R1199Q	probably benign	Het
Kcnj3	C	A	2: 55,484,971 (GRCm39)	Y356*	probably null	Het
Klb	T	A	5: 65,506,180 (GRCm39)	D142E	probably benign	Het
Klhl35	T	A	7: 99,120,958 (GRCm39)	S409T	probably benign	Het
Krt16	T	A	11: 100,137,351 (GRCm39)		probably benign	Het
Krt82	C	A	15: 101,450,148 (GRCm39)	R516L	probably benign	Het
Lce3a	A	T	3: 92,833,038 (GRCm39)	C21S	unknown	Het
Lims2	A	G	18: 32,077,573 (GRCm39)	E103G	probably benign	Het
Map2	A	T	1: 66,419,881 (GRCm39)	K71*	probably null	Het
Mthfr	C	G	4: 148,139,885 (GRCm39)	S618W	probably damaging	Het
Mycbp2	T	A	14: 103,551,761 (GRCm39)	R157*	probably null	Het
Nat10	C	A	2: 103,558,262 (GRCm39)		probably benign	Het
Obscn	G	A	11: 58,958,098 (GRCm39)	T3810M	possibly damaging	Het
Or13a19	G	A	7: 139,903,068 (GRCm39)	S152N	possibly damaging	Het
Or1x6	T	A	11: 50,939,768 (GRCm39)	M278K	probably damaging	Het
Or5d35	A	T	2: 87,855,812 (GRCm39)	I249F	probably damaging	Het
Or5g29	A	G	2: 85,421,645 (GRCm39)	T254A	possibly damaging	Het
Or6c209	A	T	10: 129,483,045 (GRCm39)	D16V	possibly damaging	Het
Or7a38	C	T	10: 78,753,439 (GRCm39)	T255I	probably damaging	Het
Park7	A	G	4: 150,992,806 (GRCm39)	V20A	possibly damaging	Het
Pgm2	T	A	5: 64,263,151 (GRCm39)	V266E	probably damaging	Het
Phip	G	A	9: 82,753,341 (GRCm39)	T1801I	probably damaging	Het
Pkhd1l1	C	A	15: 44,460,407 (GRCm39)	H4205Q	probably benign	Het
Ppp1r12a	T	A	10: 108,109,242 (GRCm39)		probably benign	Het
Pramel26	A	T	4: 143,537,338 (GRCm39)	I331N	probably damaging	Het
Ptprq	A	T	10: 107,541,409 (GRCm39)	D372E	probably benign	Het
Ptprr	G	A	10: 116,088,868 (GRCm39)	V340I	possibly damaging	Het
Qki	A	G	17: 10,428,575 (GRCm39)		probably benign	Het
Qpct	T	A	17: 79,385,081 (GRCm39)	D240E	probably benign	Het
Ren1	A	G	1: 133,283,349 (GRCm39)	T162A	possibly damaging	Het
Rif1	T	C	2: 51,980,298 (GRCm39)		probably null	Het
Sart3	A	G	5: 113,890,460 (GRCm39)	V461A	probably damaging	Het
Saxo4	A	G	19: 10,454,449 (GRCm39)	V329A	possibly damaging	Het
Scgb1b24	G	A	7: 33,443,278 (GRCm39)	G19R	probably null	Het
Spen	A	T	4: 141,204,868 (GRCm39)	I1253N	unknown	Het
Sspo	C	A	6: 48,442,489 (GRCm39)	H1995N	probably benign	Het
Tfap2c	A	G	2: 172,393,423 (GRCm39)	T113A	probably benign	Het
Togaram2	T	C	17: 72,004,993 (GRCm39)		probably null	Het
Trim65	T	A	11: 116,017,470 (GRCm39)		probably benign	Het
Trpm3	T	A	19: 22,874,885 (GRCm39)		probably null	Het
Ubxn7	T	C	16: 32,178,864 (GRCm39)	I87T	probably benign	Het
Vav1	T	C	17: 57,603,090 (GRCm39)	F81L	probably damaging	Het
Vmn2r102	A	G	17: 19,898,112 (GRCm39)	T376A	probably benign	Het
Vmn2r105	A	T	17: 20,428,938 (GRCm39)	C713S	probably benign	Het
Zbtb45	C	T	7: 12,742,254 (GRCm39)	M1I	probably null	Het
Zfp229	A	T	17: 21,964,822 (GRCm39)	M351L	probably benign	Het
Zfp932	T	C	5: 110,156,929 (GRCm39)	I176T	probably benign	Het
Zswim1	G	A	2: 164,668,046 (GRCm39)	E433K	probably damaging	Het

Other mutations in Btbd9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01519:Btbd9	APN	17	30,518,575 (GRCm39)	missense	possibly damaging	0.71
IGL01651:Btbd9	APN	17	30,439,391 (GRCm39)	missense	unknown
IGL01814:Btbd9	APN	17	30,518,509 (GRCm39)	missense	probably benign	0.01
IGL01820:Btbd9	APN	17	30,746,383 (GRCm39)	missense	possibly damaging	0.82
IGL02014:Btbd9	APN	17	30,736,124 (GRCm39)	missense	probably damaging	0.98
IGL02075:Btbd9	APN	17	30,493,910 (GRCm39)	nonsense	probably null
IGL02390:Btbd9	APN	17	30,743,788 (GRCm39)	missense	probably benign	0.22
IGL02414:Btbd9	APN	17	30,439,533 (GRCm39)	missense	possibly damaging	0.95
IGL02748:Btbd9	APN	17	30,553,271 (GRCm39)	missense	possibly damaging	0.81
crumbs	UTSW	17	30,518,710 (GRCm39)	splice site	probably null
grain	UTSW	17	30,493,916 (GRCm39)	missense	possibly damaging	0.92
R0023:Btbd9	UTSW	17	30,749,188 (GRCm39)	missense	probably damaging	0.96
R0023:Btbd9	UTSW	17	30,749,188 (GRCm39)	missense	probably damaging	0.96
R0122:Btbd9	UTSW	17	30,493,916 (GRCm39)	missense	possibly damaging	0.92
R0123:Btbd9	UTSW	17	30,493,916 (GRCm39)	missense	possibly damaging	0.92
R0134:Btbd9	UTSW	17	30,493,916 (GRCm39)	missense	possibly damaging	0.92
R0189:Btbd9	UTSW	17	30,493,916 (GRCm39)	missense	possibly damaging	0.92
R0190:Btbd9	UTSW	17	30,493,916 (GRCm39)	missense	possibly damaging	0.92
R0226:Btbd9	UTSW	17	30,493,916 (GRCm39)	missense	possibly damaging	0.92
R0344:Btbd9	UTSW	17	30,493,916 (GRCm39)	missense	possibly damaging	0.92
R0427:Btbd9	UTSW	17	30,493,916 (GRCm39)	missense	possibly damaging	0.92
R0462:Btbd9	UTSW	17	30,749,191 (GRCm39)	missense	possibly damaging	0.82
R0645:Btbd9	UTSW	17	30,743,941 (GRCm39)	missense	probably damaging	0.96
R0973:Btbd9	UTSW	17	30,518,607 (GRCm39)	missense	probably damaging	0.99
R0973:Btbd9	UTSW	17	30,518,607 (GRCm39)	missense	probably damaging	0.99
R0974:Btbd9	UTSW	17	30,518,607 (GRCm39)	missense	probably damaging	0.99
R1061:Btbd9	UTSW	17	30,746,409 (GRCm39)	missense	probably benign	0.00
R1763:Btbd9	UTSW	17	30,553,271 (GRCm39)	missense	possibly damaging	0.81
R1781:Btbd9	UTSW	17	30,732,567 (GRCm39)	missense	probably damaging	1.00
R1902:Btbd9	UTSW	17	30,749,202 (GRCm39)	missense	probably damaging	0.98
R1995:Btbd9	UTSW	17	30,493,904 (GRCm39)	missense	possibly damaging	0.93
R2224:Btbd9	UTSW	17	30,746,320 (GRCm39)	missense	probably damaging	0.98
R2237:Btbd9	UTSW	17	30,553,302 (GRCm39)	missense	probably benign
R3684:Btbd9	UTSW	17	30,553,281 (GRCm39)	missense	probably damaging	0.99
R3800:Btbd9	UTSW	17	30,732,633 (GRCm39)	missense	possibly damaging	0.89
R4403:Btbd9	UTSW	17	30,704,906 (GRCm39)	intron	probably benign
R4492:Btbd9	UTSW	17	30,746,545 (GRCm39)	missense	probably damaging	0.99
R4654:Btbd9	UTSW	17	30,704,561 (GRCm39)	intron	probably benign
R4854:Btbd9	UTSW	17	30,743,839 (GRCm39)	missense	probably damaging	0.98
R5710:Btbd9	UTSW	17	30,447,842 (GRCm39)	missense	probably benign	0.16
R5963:Btbd9	UTSW	17	30,553,192 (GRCm39)	splice site	probably null
R6295:Btbd9	UTSW	17	30,518,710 (GRCm39)	splice site	probably null
R6422:Btbd9	UTSW	17	30,749,230 (GRCm39)	missense	probably benign
R7023:Btbd9	UTSW	17	30,746,546 (GRCm39)	missense	probably benign	0.02
R7826:Btbd9	UTSW	17	30,553,301 (GRCm39)	missense	probably benign	0.42
R7922:Btbd9	UTSW	17	30,493,858 (GRCm39)	missense	probably benign	0.01
R7962:Btbd9	UTSW	17	30,736,177 (GRCm39)	missense	probably damaging	0.99
R8265:Btbd9	UTSW	17	30,553,278 (GRCm39)	missense	possibly damaging	0.86
R8786:Btbd9	UTSW	17	30,749,144 (GRCm39)	missense	probably damaging	0.97
R9541:Btbd9	UTSW	17	30,439,438 (GRCm39)	missense	possibly damaging	0.96
R9591:Btbd9	UTSW	17	30,736,222 (GRCm39)	missense	probably damaging	1.00
R9703:Btbd9	UTSW	17	30,749,200 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TCATGGGAATGCGCTTCACCTC -3'
(R):5'- TCTCCACGGCAGGTTATCTTACCAG -3'

Sequencing Primer
(F):5'- GCAGGACACTTTCGTTCTGT -3'
(R):5'- GTACACATTAGCATCCGTTGG -3'

Posted On

2013-05-09