Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02414:Btbd9'

292372

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Btbd9

Ensembl Gene

ENSMUSG00000062202

Gene Name

BTB domain containing 9

Synonyms

1700023F20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02414

Quality Score

Status

Chromosome

Chromosomal Location

30434498-30795462 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 30439533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 551 (C551W)

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: C551W

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078845
Gene: ENSMUSG00000062202
AA Change: C551W

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: C551W

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000127300
Gene: ENSMUSG00000062202
AA Change: C551W

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

Coding Region Coverage

Validation Efficiency

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ada	C	T	2: 163,571,960 (GRCm39)	D273N	probably benign	Het
Casp2	T	A	6: 42,257,380 (GRCm39)	L443H	probably damaging	Het
Cdhr3	A	G	12: 33,092,503 (GRCm39)	Y703H	possibly damaging	Het
Clta	T	C	4: 44,030,274 (GRCm39)		probably benign	Het
Cstdc2	T	G	2: 148,692,598 (GRCm39)	K68T	possibly damaging	Het
Dnah8	A	G	17: 30,919,387 (GRCm39)	D1120G	probably benign	Het
Ece2	A	G	16: 20,459,456 (GRCm39)	D597G	probably damaging	Het
Etfdh	A	G	3: 79,511,403 (GRCm39)	V526A	probably damaging	Het
Gm14496	T	A	2: 181,633,198 (GRCm39)	D60E	probably benign	Het
Gpr85	A	T	6: 13,836,909 (GRCm39)		probably benign	Het
Hivep1	C	A	13: 42,308,385 (GRCm39)	S208R	probably damaging	Het
Kif1b	A	G	4: 149,283,771 (GRCm39)	I1252T	probably damaging	Het
Knl1	T	C	2: 118,900,804 (GRCm39)	V835A	possibly damaging	Het
Or2d4	A	T	7: 106,543,965 (GRCm39)	M81K	probably benign	Het
Or5ac25	C	T	16: 59,182,077 (GRCm39)	C168Y	probably damaging	Het
Ppwd1	T	G	13: 104,359,645 (GRCm39)	I119L	probably benign	Het
Prex1	T	C	2: 166,451,748 (GRCm39)	K410R	probably damaging	Het
Prm2	C	T	16: 10,609,754 (GRCm39)		probably benign	Het
Psip1	T	C	4: 83,386,874 (GRCm39)	T166A	probably benign	Het
Rtel1	T	C	2: 180,977,765 (GRCm39)	V98A	probably benign	Het
Sdsl	G	A	5: 120,600,124 (GRCm39)	T91I	probably damaging	Het
Tas2r136	A	G	6: 132,754,494 (GRCm39)	M211T	possibly damaging	Het
Trim43c	A	T	9: 88,723,885 (GRCm39)		probably null	Het
Ttc1	T	C	11: 43,630,664 (GRCm39)		probably benign	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
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
R0268: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

Posted On

2015-04-16