Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02214:Ibtk'

284809

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 #

IGL02214

Quality Score

Status

Chromosome

Chromosomal Location

85687360-85749334 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 85714179 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139424 (fasta)

Gene Model

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

Predicted Effect

probably benign
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: 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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	T	C	2: 32,574,724		probably benign	Het
A330008L17Rik	T	A	8: 99,421,758		noncoding transcript	Het
A930004D18Rik	A	G	2: 18,027,256	L17P	unknown	Het
Abca14	A	T	7: 120,294,175	M1283L	probably benign	Het
Adarb1	A	T	10: 77,322,301	V104E	probably damaging	Het
Ano1	T	A	7: 144,655,708	N252Y	possibly damaging	Het
Atp6v0a1	A	G	11: 101,039,840	S498G	probably benign	Het
Bdp1	A	G	13: 100,041,535	V1942A	probably benign	Het
Carf	T	A	1: 60,148,081	D579E	probably damaging	Het
Cltc	A	T	11: 86,732,586	S200R	probably benign	Het
Cpeb1	T	C	7: 81,372,057	S113G	possibly damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Ehd3	T	A	17: 73,820,546	L158H	probably damaging	Het
Etfa	C	A	9: 55,464,811	G289W	probably damaging	Het
Fndc3c1	G	A	X: 106,425,829	T1029I	probably benign	Het
Gipr	C	A	7: 19,157,546	G402V	possibly damaging	Het
Gm5724	T	A	6: 141,723,185	D507V	possibly damaging	Het
Hacd1	C	T	2: 14,026,947	V242M	probably damaging	Het
Hecw1	A	G	13: 14,300,393	L520P	probably damaging	Het
Igkv16-104	A	C	6: 68,425,794	I24L	probably benign	Het
Kcnh8	A	T	17: 52,877,911	Y407F	possibly damaging	Het
Mansc1	C	T	6: 134,610,360	V285M	probably benign	Het
Mindy4	A	G	6: 55,216,651	R110G	possibly damaging	Het
Morn1	C	T	4: 155,092,319	H100Y	probably damaging	Het
Naip6	A	T	13: 100,316,059	S165T	probably damaging	Het
Olfr1110	T	G	2: 87,135,505	K272T	probably damaging	Het
Olfr538	A	T	7: 140,574,557	R135*	probably null	Het
Prx	G	T	7: 27,518,912	R946M	probably damaging	Het
Ptchd1	A	G	X: 155,573,710	V833A	possibly damaging	Het
Rgl2	A	G	17: 33,935,189	D481G	probably benign	Het
Serpinb3a	A	G	1: 107,048,488		probably null	Het
Shtn1	T	C	19: 58,999,886		probably benign	Het
Sult1b1	C	T	5: 87,535,090		probably benign	Het
Tbl3	T	C	17: 24,704,132		probably benign	Het
Trappc9	C	T	15: 73,012,882	W416*	probably null	Het
Ubr4	G	A	4: 139,461,827		probably null	Het
Ubr4	T	C	4: 139,428,583	Y2240H	possibly damaging	Het
Vmn2r76	A	C	7: 86,229,930	F387L	probably benign	Het
Vps8	G	A	16: 21,517,285	C729Y	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
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
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
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
R8407:Ibtk	UTSW	9	85721066	missense	possibly damaging	0.93
X0021:Ibtk	UTSW	9	85697174	missense	possibly damaging	0.69

Posted On

2015-04-16