Mutagenetix > Incidental Mutation

Incidental Mutation 'R0462:Btbd9'

41436

Institutional Source

Beutler Lab

Gene Symbol

Btbd9

Ensembl Gene

ENSMUSG00000062202

Gene Name

BTB domain containing 9

Synonyms

1700023F20Rik

MMRRC Submission

038662-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0462 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30434498-30795462 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30749191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 41 (V41D)

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: V41D

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000078845
Gene: ENSMUSG00000062202
AA Change: V41D

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: V41D

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127300
Gene: ENSMUSG00000062202
AA Change: V41D

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

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	A	T	11: 101,304,917 (GRCm39)	D190E	probably damaging	Het
Acnat2	A	G	4: 49,383,084 (GRCm39)		probably null	Het
Acot10	T	G	15: 20,666,712 (GRCm39)	T10P	possibly damaging	Het
Aldh7a1	T	C	18: 56,667,286 (GRCm39)		probably null	Het
Alkbh7	G	A	17: 57,305,443 (GRCm39)	V87I	probably benign	Het
Ano2	A	T	6: 125,689,238 (GRCm39)	H121L	probably benign	Het
Apob	A	T	12: 8,050,896 (GRCm39)	Y1040F	probably damaging	Het
Arhgap25	A	T	6: 87,436,942 (GRCm39)	V636E	possibly damaging	Het
Atad2b	A	T	12: 4,991,973 (GRCm39)	T191S	possibly damaging	Het
Atpsckmt	T	C	15: 31,617,018 (GRCm39)	M161T	probably damaging	Het
Bzw2	G	A	12: 36,174,023 (GRCm39)	R25C	probably damaging	Het
Carmil1	T	C	13: 24,206,494 (GRCm39)	S1326G	probably benign	Het
Cdh18	A	G	15: 23,366,971 (GRCm39)	R226G	probably damaging	Het
Cdh3	A	G	8: 107,282,012 (GRCm39)	N800S	possibly damaging	Het
Cep152	A	T	2: 125,425,854 (GRCm39)	V837E	possibly damaging	Het
Cep85	G	A	4: 133,858,732 (GRCm39)	T713M	possibly damaging	Het
Chd7	T	C	4: 8,850,821 (GRCm39)	Y1736H	probably damaging	Het
Chst3	T	C	10: 60,022,535 (GRCm39)	E104G	probably benign	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Cmah	T	A	13: 24,620,724 (GRCm39)	S319R	possibly damaging	Het
Cnbd1	A	G	4: 18,895,044 (GRCm39)	F233L	probably benign	Het
Cpne5	T	C	17: 29,395,163 (GRCm39)	E251G	probably benign	Het
Csf2rb2	G	A	15: 78,169,373 (GRCm39)	P485L	probably damaging	Het
Dimt1	T	C	13: 107,085,264 (GRCm39)	M70T	possibly damaging	Het
Dlk2	A	G	17: 46,614,024 (GRCm39)	*383W	probably null	Het
Dnah2	G	A	11: 69,350,027 (GRCm39)	R2369C	probably damaging	Het
Dock2	A	G	11: 34,218,052 (GRCm39)	F1173L	possibly damaging	Het
Dok7	A	G	5: 35,223,806 (GRCm39)	H115R	possibly damaging	Het
Dpy19l1	A	G	9: 24,325,645 (GRCm39)	I720T	probably benign	Het
Eps8	A	T	6: 137,491,309 (GRCm39)	D356E	probably benign	Het
Exoc1	A	G	5: 76,691,464 (GRCm39)	N263D	probably benign	Het
Fbxl3	T	C	14: 103,320,322 (GRCm39)	D375G	probably damaging	Het
Fcgbpl1	A	T	7: 27,836,765 (GRCm39)	D228V	probably damaging	Het
Flg2	A	T	3: 93,108,744 (GRCm39)	E257D	probably benign	Het
Fstl4	A	G	11: 53,077,229 (GRCm39)	D662G	probably benign	Het
Gbp10	G	T	5: 105,366,390 (GRCm39)	Q505K	possibly damaging	Het
Gemin2	C	T	12: 59,060,305 (GRCm39)	P15S	probably damaging	Het
Grhl2	A	G	15: 37,344,919 (GRCm39)	M514V	probably benign	Het
Hgs	A	G	11: 120,369,970 (GRCm39)	N413D	possibly damaging	Het
Il12rb2	T	C	6: 67,280,594 (GRCm39)	S538G	possibly damaging	Het
Kdm5a	A	G	6: 120,379,561 (GRCm39)	D623G	probably damaging	Het
Kifbp	A	T	10: 62,395,235 (GRCm39)	I469N	probably damaging	Het
Matk	G	T	10: 81,095,527 (GRCm39)	V116F	probably damaging	Het
Mcm3	T	C	1: 20,875,556 (GRCm39)	T694A	probably benign	Het
Mctp1	C	A	13: 76,949,520 (GRCm39)	H260Q	probably damaging	Het
Mios	T	A	6: 8,215,743 (GRCm39)	I313K	probably benign	Het
Muc4	T	A	16: 32,582,910 (GRCm39)	Y2562N	possibly damaging	Het
Naip5	T	A	13: 100,358,240 (GRCm39)	I999F	probably damaging	Het
Or11h4	T	A	14: 50,974,554 (GRCm39)	I22L	probably benign	Het
Or14j7	A	T	17: 38,234,667 (GRCm39)	D70V	probably damaging	Het
Or1x6	A	G	11: 50,939,336 (GRCm39)	Y134C	probably damaging	Het
Or52a5	A	T	7: 103,426,770 (GRCm39)	S261T	probably benign	Het
Or7g12	A	T	9: 18,900,198 (GRCm39)	I305F	probably benign	Het
Or8g52	T	A	9: 39,630,706 (GRCm39)	F61Y	probably benign	Het
Pafah1b1	A	G	11: 74,568,541 (GRCm39)	V396A	probably benign	Het
Pard6b	T	A	2: 167,929,467 (GRCm39)	I91N	possibly damaging	Het
Pdzd2	T	C	15: 12,592,246 (GRCm39)	S133G	probably damaging	Het
Plcg2	T	G	8: 118,312,044 (GRCm39)	S445R	probably benign	Het
Plekhd1	G	T	12: 80,768,352 (GRCm39)	V396L	probably damaging	Het
Ppp4r2	A	G	6: 100,843,518 (GRCm39)	D294G	possibly damaging	Het
Ppwd1	T	C	13: 104,359,468 (GRCm39)		probably null	Het
Prr22	A	G	17: 57,077,551 (GRCm39)		probably benign	Het
Psme4	A	G	11: 30,798,117 (GRCm39)	D1370G	probably damaging	Het
Rac3	T	A	11: 120,613,684 (GRCm39)	V86D	probably damaging	Het
Rnf207	T	C	4: 152,397,829 (GRCm39)	S335G	possibly damaging	Het
Rxfp3	A	G	15: 11,037,063 (GRCm39)	L103P	probably damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Smpdl3a	G	T	10: 57,670,827 (GRCm39)	C17F	probably benign	Het
Spaca7b	T	A	8: 11,711,749 (GRCm39)		probably benign	Het
Spata31g1	T	A	4: 42,973,429 (GRCm39)	F921I	probably benign	Het
Spen	A	T	4: 141,200,962 (GRCm39)	I2555N	probably damaging	Het
Srpk2	G	T	5: 23,723,424 (GRCm39)	T564K	probably damaging	Het
Stard4	C	T	18: 33,338,202 (GRCm39)	R116H	probably damaging	Het
Supt7l	A	T	5: 31,677,640 (GRCm39)	S175R	probably damaging	Het
Sycp1	A	T	3: 102,726,422 (GRCm39)	Y932N	possibly damaging	Het
Tas2r122	T	C	6: 132,688,141 (GRCm39)	M251V	probably benign	Het
Tbx15	A	T	3: 99,223,634 (GRCm39)	E274V	probably damaging	Het
Tex52	A	G	6: 128,361,917 (GRCm39)	E298G	probably benign	Het
Tmem101	T	C	11: 102,046,693 (GRCm39)	M59V	probably benign	Het
Tmem132b	T	C	5: 125,862,990 (GRCm39)	V665A	probably damaging	Het
Trim23	T	C	13: 104,334,541 (GRCm39)	V347A	probably damaging	Het
Ush2a	A	G	1: 188,643,136 (GRCm39)	H4166R	probably benign	Het
Vmn2r101	G	T	17: 19,810,431 (GRCm39)	V406L	probably benign	Het
Vrk3	A	G	7: 44,413,624 (GRCm39)	D166G	possibly damaging	Het
Washc4	T	A	10: 83,392,777 (GRCm39)	M259K	probably benign	Het
Wdr70	T	C	15: 8,108,645 (GRCm39)	D167G	probably benign	Het
Zfp1005	A	G	2: 150,111,122 (GRCm39)	E604G	possibly damaging	Het
Zfp28	A	T	7: 6,395,239 (GRCm39)	Q248L	possibly damaging	Het
Zfp39	A	G	11: 58,781,232 (GRCm39)	I510T	probably benign	Het
Zfp710	T	A	7: 79,740,089 (GRCm39)	*646R	probably null	Het
Zfp90	C	T	8: 107,151,892 (GRCm39)	S535L	possibly damaging	Het
Zfp949	C	T	9: 88,450,787 (GRCm39)	T119I	possibly 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
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
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'- GGTCCTTCAGACATCACGCACAAAG -3'
(R):5'- GGCCAGTGACTATCATCTGTTCCAC -3'

Sequencing Primer
(F):5'- AGACACTGGATTCCACTTGG -3'
(R):5'- TCATCTGTTCCACAGGATGAG -3'

Posted On

2013-05-23