Mutagenetix > Incidental Mutations

Incidental Mutation 'R1245:Ibtk'

152130

Institutional Source

Beutler Lab

Gene Symbol

Ibtk

Ensembl Gene

ENSMUSG00000035941

Gene Name

inhibitor of Bruton agammaglobulinemia tyrosine kinase

Synonyms

5430411K16Rik

MMRRC Submission

039312-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1245 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85687360-85749334 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 85720742 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000041145 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039213] [ENSMUST00000187521]

Predicted Effect

probably null
Transcript: ENSMUST00000039213

SMART Domains

Protein: ENSMUSP00000041145
Gene: ENSMUSG00000035941

Domain	Start	End	E-Value	Type
ANK	51	80	2e0	SMART
ANK	85	114	2.58e-3	SMART
Pfam:RCC1	143	192	8.1e-10	PFAM
Pfam:RCC1	195	244	1.1e-14	PFAM
Pfam:RCC1	247	299	5.3e-13	PFAM
low complexity region	307	318	N/A	INTRINSIC
low complexity region	543	551	N/A	INTRINSIC
BTB	565	745	5.48e-13	SMART
BTB	769	872	4.09e-12	SMART
low complexity region	977	990	N/A	INTRINSIC
low complexity region	1269	1281	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185353

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186322

Predicted Effect

probably benign
Transcript: ENSMUST00000187521

SMART Domains

Protein: ENSMUSP00000139424
Gene: ENSMUSG00000035941

Domain	Start	End	E-Value	Type
ANK	51	80	1.3e-2	SMART
ANK	85	114	1.7e-5	SMART
Pfam:RCC1	143	192	1.9e-8	PFAM
Pfam:RCC1	195	244	1.4e-12	PFAM
Pfam:RCC1	247	299	2.7e-10	PFAM
low complexity region	307	318	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188768

Meta Mutation Damage Score

0.9486

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.5%

Validation Efficiency

98% (41/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Bruton tyrosine kinase (BTK) is a protein tyrosine kinase that is expressed in B cells, macrophages, and neutrophils. The protein encoded by this gene binds to BTK and downregulates BTK's kinase activity. In addition, the encoded protein disrupts BTK-mediated calcium mobilization and negatively regulates the activation of nuclear factor-kappa-B-driven transcription. This gene has a pseudogene on chromosome 18. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit more sustained calcium fluxes in spleen cells stimulated with IgM. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	T	A	11: 7,169,410		probably benign	Het
Ahnak	A	G	19: 9,004,169	N939S	probably benign	Het
Cblb	C	A	16: 52,047,187		probably benign	Het
Cd22	A	G	7: 30,869,883	S603P	probably damaging	Het
Col6a6	G	A	9: 105,748,910	R1515C	possibly damaging	Het
Csf1r	C	A	18: 61,114,812	D317E	probably benign	Het
Dlg2	T	C	7: 92,442,595		probably benign	Het
Enpp3	G	A	10: 24,784,953		probably benign	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,577,224		probably null	Het
Gm5828	A	T	1: 16,769,129		noncoding transcript	Het
Gpr137c	T	C	14: 45,279,065		probably benign	Het
Kctd7	A	G	5: 130,148,217	H96R	possibly damaging	Het
Lmcd1	T	A	6: 112,315,712	V175E	probably benign	Het
Lrfn2	A	T	17: 49,096,249		probably null	Het
Ltbp1	C	T	17: 75,327,194		probably benign	Het
Myc	A	G	15: 61,987,897	I140V	probably damaging	Het
Nckap1l	A	G	15: 103,455,925	E100G	probably damaging	Het
Ncs1	A	G	2: 31,284,693	N143S	probably benign	Het
Nmnat2	A	G	1: 153,112,203	D238G	probably benign	Het
Olfr1122	T	A	2: 87,388,209	V168E	probably benign	Het
Ppp2r3a	G	A	9: 101,194,394	T675I	probably damaging	Het
Psma2	A	G	13: 14,613,291	Y6C	probably damaging	Het
Rspo4	G	A	2: 151,867,926	E84K	probably damaging	Het
Shank2	G	A	7: 144,411,720	V1015I	probably benign	Het
Slc35e1	T	C	8: 72,492,571		probably benign	Het
Smg8	T	C	11: 87,083,610	D632G	possibly damaging	Het
Sppl2a	A	T	2: 126,913,521		probably benign	Het
Svep1	A	G	4: 58,066,427		probably null	Het
Ttn	T	A	2: 76,945,700	K1666M	probably damaging	Het
Ulk1	A	G	5: 110,789,340		probably null	Het
Unc80	A	G	1: 66,555,095	D1211G	possibly damaging	Het
Vmn2r112	A	G	17: 22,603,247	Q302R	probably benign	Het
Vmn2r6	A	G	3: 64,556,790	S208P	possibly damaging	Het
Wnk1	C	T	6: 119,948,457	V1847I	probably benign	Het
Zfp653	A	T	9: 22,056,422	I529N	probably damaging	Het
Zfp948	T	C	17: 21,586,842	S99P	probably damaging	Het
Zfyve9	A	G	4: 108,693,311		probably benign	Het
Zscan29	T	C	2: 121,166,503	T246A	probably damaging	Het

Other mutations in Ibtk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00656:Ibtk	APN	9	85717545	splice site	probably null
IGL00852:Ibtk	APN	9	85713601	missense	probably benign	0.01
IGL00907:Ibtk	APN	9	85690331	missense	possibly damaging	0.51
IGL01101:Ibtk	APN	9	85732622	splice site	probably benign
IGL02125:Ibtk	APN	9	85735070	missense	probably damaging	1.00
IGL02214:Ibtk	APN	9	85714179	splice site	probably benign
IGL02223:Ibtk	APN	9	85710366	splice site	probably benign
IGL02638:Ibtk	APN	9	85719893	missense	probably damaging	1.00
IGL02741:Ibtk	APN	9	85726612	missense	probably damaging	1.00
IGL03299:Ibtk	APN	9	85721136	missense	probably benign	0.27
IGL03493:Ibtk	APN	9	85718919	missense	probably benign	0.44
R0026:Ibtk	UTSW	9	85690303	missense	probably benign
R0026:Ibtk	UTSW	9	85690303	missense	probably benign
R0558:Ibtk	UTSW	9	85737538	missense	probably damaging	0.99
R0569:Ibtk	UTSW	9	85708181	splice site	probably benign
R0932:Ibtk	UTSW	9	85735046	missense	probably damaging	1.00
R0973:Ibtk	UTSW	9	85743577	missense	probably damaging	1.00
R1237:Ibtk	UTSW	9	85720748	missense	probably benign	0.00
R1462:Ibtk	UTSW	9	85724145	missense	probably damaging	0.99
R1462:Ibtk	UTSW	9	85724145	missense	probably damaging	0.99
R1921:Ibtk	UTSW	9	85703082	missense	probably benign
R2090:Ibtk	UTSW	9	85720993	missense	probably benign	0.01
R2109:Ibtk	UTSW	9	85706550	missense	probably benign
R2277:Ibtk	UTSW	9	85703151	missense	probably benign
R2437:Ibtk	UTSW	9	85708125	missense	probably benign	0.27
R2446:Ibtk	UTSW	9	85703073	missense	probably benign	0.22
R3107:Ibtk	UTSW	9	85710414	missense	probably damaging	1.00
R3876:Ibtk	UTSW	9	85718426	missense	probably benign	0.06
R4160:Ibtk	UTSW	9	85703090	missense	probably benign	0.01
R4273:Ibtk	UTSW	9	85726731	missense	probably damaging	1.00
R4321:Ibtk	UTSW	9	85735072	missense	possibly damaging	0.49
R4827:Ibtk	UTSW	9	85728554	missense	probably benign	0.04
R4947:Ibtk	UTSW	9	85710412	missense	probably benign	0.00
R5228:Ibtk	UTSW	9	85726689	missense	possibly damaging	0.58
R5268:Ibtk	UTSW	9	85743690	missense	probably benign	0.00
R5327:Ibtk	UTSW	9	85737466	critical splice donor site	probably null
R5344:Ibtk	UTSW	9	85735004	missense	possibly damaging	0.90
R5414:Ibtk	UTSW	9	85726689	missense	possibly damaging	0.58
R5502:Ibtk	UTSW	9	85720863	missense	probably benign	0.13
R5756:Ibtk	UTSW	9	85731254	missense	possibly damaging	0.51
R7144:Ibtk	UTSW	9	85743691	missense	probably benign	0.03
R7196:Ibtk	UTSW	9	85743656	missense	probably damaging	1.00
R7490:Ibtk	UTSW	9	85718934	critical splice acceptor site	probably null
R7571:Ibtk	UTSW	9	85722300	missense	probably benign
R7757:Ibtk	UTSW	9	85697237	missense	possibly damaging	0.87
R8007:Ibtk	UTSW	9	85690717	missense	probably benign	0.09
R8065:Ibtk	UTSW	9	85720863	missense	probably benign	0.13
X0021:Ibtk	UTSW	9	85697174	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- TCTGAGACAGAGACCTTTCCAGCAC -3'
(R):5'- TCTCATCTGCACACTGTGAATTGCC -3'

Sequencing Primer
(F):5'- GCAGCAACCTTTCTGATGAG -3'
(R):5'- CATGTGGATGATAAACAGAAGTCAGC -3'

Posted On

2014-01-29