Mutagenetix > Incidental Mutation

Incidental Mutation 'R4273:Ibtk'

500519

Institutional Source

Beutler Lab

Gene Symbol

Ibtk

Ensembl Gene

ENSMUSG00000035941

Gene Name

inhibitor of Bruton agammaglobulinemia tyrosine kinase

Synonyms

5430411K16Rik

MMRRC Submission

041645-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4273 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85687360-85749334 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85726731 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 376 (Q376R)

Ref Sequence

ENSEMBL: ENSMUSP00000041145 (fasta)

Gene Model

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

AlphaFold

Q6ZPR6

Predicted Effect

probably damaging
Transcript: ENSMUST00000039213
AA Change: Q376R

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

SMART Domains

Protein: ENSMUSP00000041145
Gene: ENSMUSG00000035941
AA Change: Q376R

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: Q376R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139424
Gene: ENSMUSG00000035941
AA Change: Q376R

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

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.1%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	T	A	4: 86,874,598		probably null	Het
Adgrf2	T	A	17: 42,710,122	T604S	probably damaging	Het
Akap8l	T	A	17: 32,321,931	K533*	probably null	Het
Appbp2	T	C	11: 85,234,676	Y45C	probably damaging	Het
Arap2	T	C	5: 62,670,979	I950V	possibly damaging	Het
Arhgap31	T	C	16: 38,602,335	E1123G	possibly damaging	Het
Atp2c1	G	T	9: 105,435,140	N493K	probably benign	Het
Bcr	T	C	10: 75,125,111	I458T	probably damaging	Het
Brd4	G	A	17: 32,214,782	T468I	probably benign	Het
Cdh23	T	A	10: 60,311,161	D2774V	possibly damaging	Het
Cfdp1	T	C	8: 111,768,785	Y267C	probably damaging	Het
Chd6	C	A	2: 160,961,291	A2156S	probably benign	Het
Dazap2	C	A	15: 100,618,090	P100T	probably damaging	Het
Disp1	T	A	1: 183,087,644	I1071F	possibly damaging	Het
Dlgap1	T	A	17: 70,766,043	S686T	probably benign	Het
Dst	C	T	1: 34,192,340	R3183C	possibly damaging	Het
Enpp4	T	C	17: 44,101,807	N279D	probably benign	Het
Exoc3l	T	C	8: 105,289,961	*740W	probably null	Het
Exoc5	A	T	14: 49,015,480	C625*	probably null	Het
Fam98b	A	T	2: 117,260,231	N137Y	possibly damaging	Het
Fat4	T	A	3: 38,891,627	D1556E	probably damaging	Het
Fcer2a	C	A	8: 3,682,848	V319L	possibly damaging	Het
Fer1l6	T	C	15: 58,627,522	V1247A	probably benign	Het
Fmo4	A	G	1: 162,805,179	V201A	probably damaging	Het
Fras1	G	A	5: 96,614,904	G755D	probably benign	Het
Gm13078	A	T	4: 143,726,846	K175*	probably null	Het
Grid2	T	C	6: 63,909,045	Y142H	probably damaging	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Impdh2	T	C	9: 108,564,956	M414T	probably damaging	Het
Itm2c	A	G	1: 85,907,029	T160A	probably damaging	Het
Kcna2	T	A	3: 107,105,193	D363E	probably benign	Het
Lama2	C	T	10: 27,347,054	C412Y	probably damaging	Het
Lims2	C	G	18: 31,956,337	T151S	probably benign	Het
Mier1	T	C	4: 103,162,431	S423P	possibly damaging	Het
Mrgpra3	A	T	7: 47,589,432	W249R	probably benign	Het
Mtor	A	G	4: 148,550,152	H2410R	probably benign	Het
Mvp	C	T	7: 126,989,703	A631T	probably benign	Het
Nepro	T	C	16: 44,735,829	V450A	possibly damaging	Het
Ngrn	T	C	7: 80,264,521	V140A	probably damaging	Het
Nobox	T	C	6: 43,306,008	E231G	probably benign	Het
Olfr129	A	T	17: 38,055,272	I98N	probably damaging	Het
P3h2	T	A	16: 26,105,221	I155F	probably benign	Het
Pcdha3	C	T	18: 36,948,091	R629C	probably damaging	Het
Riok3	AGAAGCGG	AG	18: 12,135,941		probably benign	Het
Rttn	T	C	18: 89,091,896	I1675T	probably benign	Het
Sall2	C	A	14: 52,313,803	R643L	probably damaging	Het
Slc35f4	G	T	14: 49,304,301	T182N	possibly damaging	Het
Slc52a3	T	A	2: 152,005,740	I256N	possibly damaging	Het
Sox9	T	C	11: 112,785,154	S390P	possibly damaging	Het
Tango2	T	C	16: 18,302,790		probably benign	Het
Tas1r1	T	C	4: 152,032,157	E340G	possibly damaging	Het
Tek	G	A	4: 94,829,970	G524R	probably damaging	Het
Tmem260	A	T	14: 48,505,304	Y532F	probably benign	Het
Tsks	C	A	7: 44,957,929	L559I	probably damaging	Het
Unc79	C	A	12: 103,122,353	L1702I	probably damaging	Het
Vmn1r14	T	A	6: 57,234,148	I237N	probably damaging	Het
Vmn2r17	G	A	5: 109,452,966	C710Y	probably benign	Het
Zfp119b	G	T	17: 55,938,926	T420K	possibly damaging	Het
Zfp202	C	T	9: 40,207,494	R68*	probably null	Het
Zfp229	T	A	17: 21,746,821	S677R	probably benign	Het
Zfp462	C	T	4: 55,008,411	H126Y	probably benign	Het
Zfp52	C	A	17: 21,560,197	Y102*	probably null	Het
Zfp616	T	A	11: 74,083,700	M265K	probably benign	Het
Zfyve9	A	T	4: 108,680,976	I1031N	probably damaging	Het
Zmynd11	T	C	13: 9,697,690	Y203C	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
Biddie	UTSW	9	85697237	missense	possibly damaging	0.87
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
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
R8711:Ibtk	UTSW	9	85724155	missense	probably benign
R8753:Ibtk	UTSW	9	85728766	missense	probably benign	0.01
R8835:Ibtk	UTSW	9	85737510	missense	possibly damaging	0.50
R8906:Ibtk	UTSW	9	85743404	missense	possibly damaging	0.91
R8980:Ibtk	UTSW	9	85732730	nonsense	probably null
R9140:Ibtk	UTSW	9	85735061	missense	probably damaging	1.00
R9230:Ibtk	UTSW	9	85703649	critical splice donor site	probably null
R9406:Ibtk	UTSW	9	85721340	nonsense	probably null
R9745:Ibtk	UTSW	9	85731227	missense	probably benign	0.02
X0021:Ibtk	UTSW	9	85697174	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- AGCCAGGCATTACACTTGG -3'
(R):5'- AGCTGTCCAGAGAATGAGACTC -3'

Sequencing Primer
(F):5'- GGCATTCCCATGGTCCATGTAAG -3'
(R):5'- CTGTCCAGAGAATGAGACTCTAAGTG -3'

Posted On

2017-12-01