Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00656:Ibtk'

13545

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ibtk

Ensembl Gene

ENSMUSG00000035941

Gene Name

inhibitor of Bruton agammaglobulinemia tyrosine kinase

Synonyms

5430411K16Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00656

Quality Score

Status

Chromosome

Chromosomal Location

85569413-85631387 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 85599598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000041145 (fasta)

Gene Model

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

AlphaFold

Q6ZPR6

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

Coding Region Coverage

Validation Efficiency

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: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asns	A	T	6: 7,680,215 (GRCm39)		probably benign	Het
Atxn2	A	G	5: 121,933,118 (GRCm39)	I814V	probably benign	Het
Cfhr1	T	C	1: 139,475,493 (GRCm39)		probably benign	Het
Cyp3a57	A	G	5: 145,309,359 (GRCm39)	I232M	possibly damaging	Het
Ddx27	T	A	2: 166,861,886 (GRCm39)	D129E	probably benign	Het
Dld	A	G	12: 31,399,594 (GRCm39)		probably null	Het
Lrp3	T	C	7: 34,905,453 (GRCm39)		probably benign	Het
Mmp27	A	C	9: 7,581,383 (GRCm39)	T549P	possibly damaging	Het
Oas1d	A	G	5: 121,057,270 (GRCm39)	Y292C	possibly damaging	Het
Pdcd11	A	G	19: 47,086,609 (GRCm39)	D205G	probably damaging	Het
Rbm39	A	G	2: 156,004,791 (GRCm39)	V181A	probably damaging	Het
Spata31e2	A	G	1: 26,721,982 (GRCm39)	V1066A	possibly damaging	Het
Strbp	T	C	2: 37,493,150 (GRCm39)		probably benign	Het
Tor1aip1	T	C	1: 155,907,213 (GRCm39)	N187S	probably benign	Het
Ubqln3	T	C	7: 103,790,984 (GRCm39)	T369A	probably benign	Het
Unc13a	G	A	8: 72,095,791 (GRCm39)	A1242V	probably null	Het

Other mutations in Ibtk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00852:Ibtk	APN	9	85,595,654 (GRCm39)	missense	probably benign	0.01
IGL00907:Ibtk	APN	9	85,572,384 (GRCm39)	missense	possibly damaging	0.51
IGL01101:Ibtk	APN	9	85,614,675 (GRCm39)	splice site	probably benign
IGL02125:Ibtk	APN	9	85,617,123 (GRCm39)	missense	probably damaging	1.00
IGL02214:Ibtk	APN	9	85,596,232 (GRCm39)	splice site	probably benign
IGL02223:Ibtk	APN	9	85,592,419 (GRCm39)	splice site	probably benign
IGL02638:Ibtk	APN	9	85,601,946 (GRCm39)	missense	probably damaging	1.00
IGL02741:Ibtk	APN	9	85,608,665 (GRCm39)	missense	probably damaging	1.00
IGL03299:Ibtk	APN	9	85,603,189 (GRCm39)	missense	probably benign	0.27
IGL03493:Ibtk	APN	9	85,600,972 (GRCm39)	missense	probably benign	0.44
Biddie	UTSW	9	85,579,290 (GRCm39)	missense	possibly damaging	0.87
R0026:Ibtk	UTSW	9	85,572,356 (GRCm39)	missense	probably benign
R0026:Ibtk	UTSW	9	85,572,356 (GRCm39)	missense	probably benign
R0558:Ibtk	UTSW	9	85,619,591 (GRCm39)	missense	probably damaging	0.99
R0569:Ibtk	UTSW	9	85,590,234 (GRCm39)	splice site	probably benign
R0932:Ibtk	UTSW	9	85,617,099 (GRCm39)	missense	probably damaging	1.00
R0973:Ibtk	UTSW	9	85,625,630 (GRCm39)	missense	probably damaging	1.00
R1237:Ibtk	UTSW	9	85,602,801 (GRCm39)	missense	probably benign	0.00
R1245:Ibtk	UTSW	9	85,602,795 (GRCm39)	critical splice donor site	probably null
R1462:Ibtk	UTSW	9	85,606,198 (GRCm39)	missense	probably damaging	0.99
R1462:Ibtk	UTSW	9	85,606,198 (GRCm39)	missense	probably damaging	0.99
R1921:Ibtk	UTSW	9	85,585,135 (GRCm39)	missense	probably benign
R2090:Ibtk	UTSW	9	85,603,046 (GRCm39)	missense	probably benign	0.01
R2109:Ibtk	UTSW	9	85,588,603 (GRCm39)	missense	probably benign
R2277:Ibtk	UTSW	9	85,585,204 (GRCm39)	missense	probably benign
R2437:Ibtk	UTSW	9	85,590,178 (GRCm39)	missense	probably benign	0.27
R2446:Ibtk	UTSW	9	85,585,126 (GRCm39)	missense	probably benign	0.22
R3107:Ibtk	UTSW	9	85,592,467 (GRCm39)	missense	probably damaging	1.00
R3876:Ibtk	UTSW	9	85,600,479 (GRCm39)	missense	probably benign	0.06
R4160:Ibtk	UTSW	9	85,585,143 (GRCm39)	missense	probably benign	0.01
R4273:Ibtk	UTSW	9	85,608,784 (GRCm39)	missense	probably damaging	1.00
R4321:Ibtk	UTSW	9	85,617,125 (GRCm39)	missense	possibly damaging	0.49
R4827:Ibtk	UTSW	9	85,610,607 (GRCm39)	missense	probably benign	0.04
R4947:Ibtk	UTSW	9	85,592,465 (GRCm39)	missense	probably benign	0.00
R5228:Ibtk	UTSW	9	85,608,742 (GRCm39)	missense	possibly damaging	0.58
R5268:Ibtk	UTSW	9	85,625,743 (GRCm39)	missense	probably benign	0.00
R5327:Ibtk	UTSW	9	85,619,519 (GRCm39)	critical splice donor site	probably null
R5344:Ibtk	UTSW	9	85,617,057 (GRCm39)	missense	possibly damaging	0.90
R5414:Ibtk	UTSW	9	85,608,742 (GRCm39)	missense	possibly damaging	0.58
R5502:Ibtk	UTSW	9	85,602,916 (GRCm39)	missense	probably benign	0.13
R5756:Ibtk	UTSW	9	85,613,307 (GRCm39)	missense	possibly damaging	0.51
R7144:Ibtk	UTSW	9	85,625,744 (GRCm39)	missense	probably benign	0.03
R7196:Ibtk	UTSW	9	85,625,709 (GRCm39)	missense	probably damaging	1.00
R7490:Ibtk	UTSW	9	85,600,987 (GRCm39)	critical splice acceptor site	probably null
R7571:Ibtk	UTSW	9	85,604,353 (GRCm39)	missense	probably benign
R7757:Ibtk	UTSW	9	85,579,290 (GRCm39)	missense	possibly damaging	0.87
R8007:Ibtk	UTSW	9	85,572,770 (GRCm39)	missense	probably benign	0.09
R8065:Ibtk	UTSW	9	85,602,916 (GRCm39)	missense	probably benign	0.13
R8407:Ibtk	UTSW	9	85,603,119 (GRCm39)	missense	possibly damaging	0.93
R8711:Ibtk	UTSW	9	85,606,208 (GRCm39)	missense	probably benign
R8753:Ibtk	UTSW	9	85,610,819 (GRCm39)	missense	probably benign	0.01
R8835:Ibtk	UTSW	9	85,619,563 (GRCm39)	missense	possibly damaging	0.50
R8906:Ibtk	UTSW	9	85,625,457 (GRCm39)	missense	possibly damaging	0.91
R8980:Ibtk	UTSW	9	85,614,783 (GRCm39)	nonsense	probably null
R9140:Ibtk	UTSW	9	85,617,114 (GRCm39)	missense	probably damaging	1.00
R9230:Ibtk	UTSW	9	85,585,702 (GRCm39)	critical splice donor site	probably null
R9406:Ibtk	UTSW	9	85,603,393 (GRCm39)	nonsense	probably null
R9745:Ibtk	UTSW	9	85,613,280 (GRCm39)	missense	probably benign	0.02
X0021:Ibtk	UTSW	9	85,579,227 (GRCm39)	missense	possibly damaging	0.69

Posted On

2012-12-06