Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02741:Ibtk'

305896

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02741

Quality Score

Status

Chromosome

Chromosomal Location

85687360-85749334 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85726612 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 416 (R416G)

Ref Sequence

ENSEMBL: ENSMUSP00000041145 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000039213
AA Change: R416G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041145
Gene: ENSMUSG00000035941
AA Change: R416G

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: ENSMUST00000186447

Predicted Effect

probably damaging
Transcript: ENSMUST00000187521
AA Change: R416G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139424
Gene: ENSMUSG00000035941
AA Change: R416G

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

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930004D18Rik	T	C	2: 18,027,196	Y37C	unknown	Het
Arhgap20	T	A	9: 51,848,645	C599S	probably benign	Het
Bcl6b	C	A	11: 70,229,116	R15L	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dchs1	C	T	7: 105,757,323	D2262N	probably damaging	Het
Dsg4	A	G	18: 20,471,496	M1007V	probably benign	Het
Fgd6	A	G	10: 94,123,290	K1032R	possibly damaging	Het
Fras1	T	A	5: 96,691,371	M1583K	probably benign	Het
Gjc3	A	T	5: 137,957,464	C186*	probably null	Het
Gm14496	A	G	2: 181,991,343	R40G	probably benign	Het
Kcnc4	A	G	3: 107,447,978	F385L	probably damaging	Het
Mapk8ip2	T	C	15: 89,457,497	S304P	probably damaging	Het
Mbd6	A	G	10: 127,287,394		probably null	Het
Mroh2b	T	C	15: 4,905,632	F183S	probably benign	Het
Nrg1	T	A	8: 31,822,288	T334S	probably damaging	Het
Pigw	C	T	11: 84,878,366	V46I	probably benign	Het
Pkdrej	T	C	15: 85,817,430	E1435G	probably benign	Het
Pkhd1	T	C	1: 20,220,029		probably benign	Het
Prkdc	A	T	16: 15,752,726		probably benign	Het
Ptprd	A	T	4: 76,133,284	I247N	probably damaging	Het
Rfx1	A	G	8: 84,095,842	Q923R	possibly damaging	Het
Rgs11	G	A	17: 26,207,631	V279I	probably benign	Het
Rps6ka2	T	A	17: 7,296,016	F608I	probably benign	Het
Slc13a1	A	T	6: 24,150,708		probably null	Het
Slc6a20b	C	T	9: 123,607,602	V249M	probably damaging	Het
Slc9c1	A	G	16: 45,581,598	I783V	possibly damaging	Het
Swap70	G	T	7: 110,274,649	M401I	probably benign	Het
Tmco4	A	T	4: 139,029,877	I407F	probably damaging	Het
Trpm4	T	A	7: 45,318,488	S340C	possibly damaging	Het
Tsc2	T	C	17: 24,629,969	E79G	probably damaging	Het
Ubr1	A	C	2: 120,941,091	S439A	probably benign	Het
Vmn1r73	T	C	7: 11,756,783	V176A	probably benign	Het
Vmn2r17	G	A	5: 109,420,211	D67N	probably benign	Het
Wasf1	C	T	10: 40,930,709	T116M	probably damaging	Het
Zkscan3	A	T	13: 21,393,994	M241K	probably benign	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
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
R1245:Ibtk	UTSW	9	85720742	critical splice donor site	probably null
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
X0021:Ibtk	UTSW	9	85697174	missense	possibly damaging	0.69

Posted On

2015-04-16