Mutagenetix > Incidental Mutation

Incidental Mutation 'R0973:Btbd9'

500416

Institutional Source

Beutler Lab

Gene Symbol

Btbd9

Ensembl Gene

ENSMUSG00000062202

Gene Name

BTB domain containing 9

Synonyms

1700023F20Rik

MMRRC Submission

039102-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0973 (G1)

Quality Score

210

Status

Not validated

Chromosome

Chromosomal Location

30434498-30795462 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30518607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 451 (D451V)

Ref Sequence

ENSEMBL: ENSMUSP00000127300 (fasta)

Gene Model

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

AlphaFold

Q8C726

Predicted Effect

probably damaging
Transcript: ENSMUST00000079924
AA Change: D451V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078845
Gene: ENSMUSG00000062202
AA Change: D451V

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

probably damaging
Transcript: ENSMUST00000168787
AA Change: D451V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127300
Gene: ENSMUSG00000062202
AA Change: D451V

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

0.8723

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

93% (38/41)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 183,765,702 (GRCm39)	S119N	probably benign	Het
4930503L19Rik	T	A	18: 70,600,997 (GRCm39)		probably null	Het
Adam18	T	C	8: 25,137,869 (GRCm39)	T324A	probably benign	Het
Adamts20	T	A	15: 94,184,252 (GRCm39)	Q1517L	probably benign	Het
AI429214	A	G	8: 37,461,473 (GRCm39)	Q207R	probably benign	Het
Arhgef7	A	G	8: 11,869,659 (GRCm39)	T432A	possibly damaging	Het
Atad2b	A	G	12: 5,081,784 (GRCm39)	N1231S	probably benign	Het
Atp13a1	T	C	8: 70,254,794 (GRCm39)		probably null	Het
Atp6v0a1	T	A	11: 100,946,317 (GRCm39)	L770*	probably null	Het
Atp8b3	T	C	10: 80,370,032 (GRCm39)	N127S	probably damaging	Het
B3gnt5	T	A	16: 19,588,760 (GRCm39)	D326E	probably damaging	Het
Birc6	T	A	17: 74,872,856 (GRCm39)	S372T	probably damaging	Het
Cd46	T	C	1: 194,724,300 (GRCm39)	*366W	probably null	Het
Cdcp3	T	C	7: 130,839,911 (GRCm39)	L611P	probably damaging	Het
Cdh18	T	A	15: 23,474,081 (GRCm39)	D650E	probably damaging	Het
Cenpc1	A	T	5: 86,185,767 (GRCm39)	V248E	probably damaging	Het
Cep152	A	G	2: 125,436,819 (GRCm39)	S574P	probably benign	Het
Chd2	A	G	7: 73,128,412 (GRCm39)	S858P	probably damaging	Het
Cib4	T	C	5: 30,645,938 (GRCm39)	D110G	probably damaging	Het
Col9a2	T	A	4: 120,896,985 (GRCm39)		probably null	Het
Csmd2	A	T	4: 128,389,981 (GRCm39)	I2239F	possibly damaging	Het
Csmd3	C	A	15: 47,522,485 (GRCm39)	G2728V	probably damaging	Het
Cxcl1	A	T	5: 91,039,626 (GRCm39)	K85*	probably null	Het
Cyp2d11	A	G	15: 82,273,730 (GRCm39)	L416P	possibly damaging	Het
Daam1	A	C	12: 71,962,558 (GRCm39)	K90T	unknown	Het
Depdc5	T	A	5: 33,144,310 (GRCm39)	M1435K	possibly damaging	Het
Dip2c	G	A	13: 9,626,944 (GRCm39)	A632T	probably damaging	Het
Dld	A	T	12: 31,384,053 (GRCm39)	I350N	probably damaging	Het
Dmtf1	T	A	5: 9,177,987 (GRCm39)	I391F	possibly damaging	Het
Dnah14	T	C	1: 181,579,710 (GRCm39)	V3081A	probably damaging	Het
Efemp1	A	G	11: 28,804,538 (GRCm39)	E22G	probably damaging	Het
Ephb6	A	G	6: 41,591,038 (GRCm39)	D65G	probably damaging	Het
Fsip2	A	T	2: 82,807,436 (GRCm39)	T1252S	probably benign	Het
Gm4847	A	G	1: 166,457,824 (GRCm39)	S510P	probably benign	Het
Golga4	T	C	9: 118,366,341 (GRCm39)	I365T	probably damaging	Het
Gp2	A	T	7: 119,053,766 (GRCm39)	L65Q	probably damaging	Het
Ibtk	T	C	9: 85,625,630 (GRCm39)	Y40C	probably damaging	Het
Ice1	C	A	13: 70,750,546 (GRCm39)	V1847L	probably benign	Het
Ift172	C	T	5: 31,422,699 (GRCm39)	R917H	probably benign	Het
Itgae	C	T	11: 73,029,335 (GRCm39)	Q1037*	probably null	Het
Kbtbd7	A	G	14: 79,664,870 (GRCm39)	E234G	possibly damaging	Het
Khsrp	T	C	17: 57,332,576 (GRCm39)	T235A	probably benign	Het
Klk13	T	C	7: 43,370,582 (GRCm39)		probably null	Het
Lrfn5	G	A	12: 61,890,223 (GRCm39)	G504D	probably damaging	Het
Macf1	A	G	4: 123,369,793 (GRCm39)	V91A	possibly damaging	Het
Map6	G	A	7: 98,985,950 (GRCm39)	G821D	possibly damaging	Het
Mark1	A	C	1: 184,653,801 (GRCm39)	V167G	probably damaging	Het
Mrgprf	T	A	7: 144,861,993 (GRCm39)	L185Q	probably damaging	Het
Mtor	T	A	4: 148,634,645 (GRCm39)	V2422D	probably damaging	Het
Myh13	T	A	11: 67,223,346 (GRCm39)	I222N	probably damaging	Het
Myh7b	G	A	2: 155,462,347 (GRCm39)	C350Y	probably benign	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Olfm3	C	A	3: 114,895,635 (GRCm39)	S172R	probably benign	Het
Or13e8	A	G	4: 43,696,706 (GRCm39)	S156P	probably damaging	Het
Or1j14	A	G	2: 36,418,020 (GRCm39)	I199V	probably benign	Het
Or4c1	A	T	2: 89,133,528 (GRCm39)	I136N	probably damaging	Het
Or5d40	A	T	2: 88,015,322 (GRCm39)	T34S	probably benign	Het
Or8b48	T	A	9: 38,492,579 (GRCm39)	V2D	possibly damaging	Het
Pacs1	A	T	19: 5,193,857 (GRCm39)	D557E	probably damaging	Het
Pde1c	A	G	6: 56,338,800 (GRCm39)	F11L	probably benign	Het
Phactr2	T	C	10: 13,122,883 (GRCm39)	D343G	possibly damaging	Het
Piezo2	T	C	18: 63,148,873 (GRCm39)	Y2659C	probably damaging	Het
Pkd2l2	A	G	18: 34,561,305 (GRCm39)	T438A	probably damaging	Het
Pld2	T	C	11: 70,447,907 (GRCm39)	W857R	probably damaging	Het
Plxnb1	T	C	9: 108,931,210 (GRCm39)	V410A	possibly damaging	Het
Pramel26	T	C	4: 143,538,428 (GRCm39)	Y181C	probably damaging	Het
Ptger2	A	G	14: 45,226,957 (GRCm39)	Y179C	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rcan1	A	T	16: 92,190,408 (GRCm39)	M177K	probably benign	Het
Rilpl1	A	G	5: 124,639,934 (GRCm39)	S156P	probably benign	Het
Rilpl1	A	G	5: 124,639,951 (GRCm39)	I122T	possibly damaging	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Rpa1	C	T	11: 75,203,799 (GRCm39)		probably null	Het
Saxo2	A	G	7: 82,284,078 (GRCm39)	V260A	probably benign	Het
Sel1l	T	C	12: 91,791,634 (GRCm39)	Y309C	probably damaging	Het
Setd1b	GCCCCCCC	GCCCCCCCCCCCCC	5: 123,298,766 (GRCm39)		probably benign	Het
Slc33a1	A	G	3: 63,850,725 (GRCm39)	F533S	probably benign	Het
Slc38a4	C	T	15: 96,903,739 (GRCm39)	V421M	probably benign	Het
Snx14	A	G	9: 88,282,774 (GRCm39)		probably null	Het
Spef2	A	G	15: 9,716,482 (GRCm39)	F368S	probably damaging	Het
Sri	A	T	5: 8,109,381 (GRCm39)	Q55L	probably damaging	Het
Stat4	A	G	1: 52,135,979 (GRCm39)	I429M	probably damaging	Het
Stkld1	A	T	2: 26,841,462 (GRCm39)	Q469L	probably benign	Het
Tm9sf1	T	C	14: 55,880,392 (GRCm39)	T2A	possibly damaging	Het
Tmco5	A	G	2: 116,713,699 (GRCm39)	T122A	probably benign	Het
Tmem59l	G	A	8: 70,938,710 (GRCm39)	P124S	possibly damaging	Het
Tmem81	G	A	1: 132,435,662 (GRCm39)	R156Q	probably damaging	Het
Trpv6	T	A	6: 41,602,122 (GRCm39)	T396S	probably benign	Het
Usp24	T	A	4: 106,228,276 (GRCm39)	Y780*	probably null	Het
Utp25	A	T	1: 192,797,011 (GRCm39)	N573K	probably damaging	Het
Vmn1r120	A	G	7: 20,786,941 (GRCm39)	C257R	probably damaging	Het
Vmn2r53	A	G	7: 12,335,319 (GRCm39)	F114L	probably damaging	Het
Vwf	A	G	6: 125,619,969 (GRCm39)	E1549G	probably damaging	Het
Zfp626	G	A	7: 27,517,907 (GRCm39)	R296H	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
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
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

Posted On

2017-12-01