Mutagenetix > Incidental Mutation

Incidental Mutation 'R0122:Btbd9'

60572

Institutional Source

Beutler Lab

Gene Symbol

Btbd9

Ensembl Gene

ENSMUSG00000062202

Gene Name

BTB domain containing 9

Synonyms

1700023F20Rik

MMRRC Submission

038407-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0122 (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: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

99% (78/79)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
Adam12	T	A	7: 133,614,077 (GRCm39)	I60F	probably benign	Het
Adamts10	A	G	17: 33,747,454 (GRCm39)		probably benign	Het
Adamts12	C	T	15: 11,215,710 (GRCm39)	R244C	probably damaging	Het
Adamts7	A	G	9: 90,061,474 (GRCm39)	E360G	probably damaging	Het
Atn1	A	T	6: 124,720,197 (GRCm39)		probably benign	Het
Avl9	G	T	6: 56,713,468 (GRCm39)	R242L	probably benign	Het
Baz2b	G	T	2: 59,743,963 (GRCm39)		probably null	Het
Bloc1s6	G	C	2: 122,587,963 (GRCm39)		probably benign	Het
C1qa	T	A	4: 136,625,142 (GRCm39)	T3S	probably benign	Het
Cacna1e	A	T	1: 154,319,647 (GRCm39)	F1351Y	probably damaging	Het
Car9	C	T	4: 43,512,206 (GRCm39)	A356V	probably benign	Het
Ccdc116	T	A	16: 16,960,598 (GRCm39)	D73V	probably damaging	Het
Ces2g	T	C	8: 105,694,932 (GRCm39)	Y518H	probably damaging	Het
Ciz1	A	G	2: 32,261,431 (GRCm39)		probably benign	Het
Cmc1	A	T	9: 117,894,388 (GRCm39)	C29S	probably damaging	Het
Coil	T	A	11: 88,875,833 (GRCm39)		probably benign	Het
Col3a1	C	T	1: 45,380,057 (GRCm39)		probably benign	Het
Cox15	A	G	19: 43,737,229 (GRCm39)	I135T	possibly damaging	Het
Cyld	T	C	8: 89,468,920 (GRCm39)	S564P	probably damaging	Het
Dnah5	T	A	15: 28,378,509 (GRCm39)	N2948K	probably damaging	Het
Dnah7a	G	A	1: 53,436,301 (GRCm39)	R4014W	probably damaging	Het
Dnmt3b	T	C	2: 153,518,618 (GRCm39)	Y594H	probably damaging	Het
Dntt	A	G	19: 41,041,477 (GRCm39)	K387R	possibly damaging	Het
Efcab7	G	A	4: 99,749,560 (GRCm39)		probably benign	Het
Flvcr1	G	T	1: 190,753,423 (GRCm39)	P250T	possibly damaging	Het
Gga2	C	A	7: 121,590,797 (GRCm39)	V504L	probably damaging	Het
Gm12239	T	A	11: 55,906,738 (GRCm39)		noncoding transcript	Het
Gm6327	T	C	16: 12,578,890 (GRCm39)		noncoding transcript	Het
Krt26	G	T	11: 99,224,545 (GRCm39)	Y324*	probably null	Het
Lamb2	A	T	9: 108,363,713 (GRCm39)	H939L	probably benign	Het
Lipo3	C	T	19: 33,600,086 (GRCm39)		probably benign	Het
Mmp1b	G	A	9: 7,386,689 (GRCm39)	T145M	probably damaging	Het
Mrps27	G	T	13: 99,501,736 (GRCm39)	V76L	probably benign	Het
Mup6	T	A	4: 60,003,995 (GRCm39)	Y29*	probably null	Het
Nlrc3	T	C	16: 3,776,822 (GRCm39)	K756E	probably damaging	Het
Nnt	T	C	13: 119,505,133 (GRCm39)	H527R	probably damaging	Het
Nudt8	T	C	19: 4,051,306 (GRCm39)	V59A	probably benign	Het
Ofcc1	A	T	13: 40,434,032 (GRCm39)		probably null	Het
Or10d1	A	T	9: 39,484,020 (GRCm39)	D178E	probably damaging	Het
Or2a25	T	C	6: 42,888,889 (GRCm39)	V144A	probably benign	Het
Or51q1c	T	C	7: 103,652,565 (GRCm39)	W28R	probably damaging	Het
Pdgfd	T	C	9: 6,293,851 (GRCm39)	S142P	probably damaging	Het
Pias4	G	T	10: 80,992,921 (GRCm39)	Q22K	probably damaging	Het
Pin1	T	C	9: 20,573,600 (GRCm39)	I95T	probably benign	Het
Pramel23	A	T	4: 143,424,974 (GRCm39)	D156E	probably benign	Het
Prickle2	G	A	6: 92,388,326 (GRCm39)	Q359*	probably null	Het
Qrich2	G	T	11: 116,337,639 (GRCm39)	Q1950K	possibly damaging	Het
Rab10	C	A	12: 3,359,357 (GRCm39)	G21V	probably damaging	Het
Rbm27	T	A	18: 42,447,033 (GRCm39)		probably benign	Het
Samd4	C	A	14: 47,254,017 (GRCm39)	S160R	probably benign	Het
Scube3	A	C	17: 28,385,502 (GRCm39)		probably benign	Het
Serpinf2	A	G	11: 75,327,372 (GRCm39)	L185P	probably damaging	Het
Slc16a12	A	G	19: 34,652,264 (GRCm39)	I294T	probably benign	Het
Slc45a3	T	A	1: 131,905,478 (GRCm39)	M167K	probably damaging	Het
Sspo	T	A	6: 48,450,910 (GRCm39)	L2673Q	possibly damaging	Het
Supt3	A	G	17: 45,314,028 (GRCm39)	D139G	probably damaging	Het
Tas1r3	T	C	4: 155,945,290 (GRCm39)	M644V	probably benign	Het
Tgfbi	A	G	13: 56,775,781 (GRCm39)	T276A	probably damaging	Het
Tmem177	T	C	1: 119,838,308 (GRCm39)	I124V	probably benign	Het
Tmprss11f	G	T	5: 86,681,484 (GRCm39)		probably benign	Het
Tmprss3	G	A	17: 31,412,876 (GRCm39)		probably benign	Het
Twf1	A	G	15: 94,484,430 (GRCm39)		probably benign	Het
Uba52	T	A	8: 70,961,951 (GRCm39)	Q166L	probably damaging	Het
Ubr3	G	T	2: 69,809,756 (GRCm39)	G1242V	probably damaging	Het
Unc13d	C	T	11: 115,956,308 (GRCm39)	S835N	probably benign	Het
Ush2a	A	G	1: 188,680,652 (GRCm39)	K4877E	possibly damaging	Het
Vmn2r98	A	G	17: 19,286,662 (GRCm39)	I387V	probably benign	Het
Vps11	A	T	9: 44,265,809 (GRCm39)	I490N	probably damaging	Het
Vstm4	T	A	14: 32,585,768 (GRCm39)		probably null	Het
Zfp110	C	A	7: 12,582,524 (GRCm39)	H391N	possibly damaging	Het
Zfp212	C	T	6: 47,907,957 (GRCm39)	P312L	possibly damaging	Het
Zfp329	A	T	7: 12,544,914 (GRCm39)	H203Q	probably damaging	Het
Zscan12	G	A	13: 21,553,139 (GRCm39)	G321E	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
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

Predicted Primers

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

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

Posted On

2013-07-24