Mutagenetix > Incidental Mutation

Incidental Mutation 'R5268:Ibtk'

399950

Institutional Source

Beutler Lab

Gene Symbol

Ibtk

Ensembl Gene

ENSMUSG00000035941

Gene Name

inhibitor of Bruton agammaglobulinemia tyrosine kinase

Synonyms

5430411K16Rik

MMRRC Submission

042860-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5268 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85569413-85631387 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85625743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 2 (D2E)

Ref Sequence

ENSEMBL: ENSMUSP00000139424 (fasta)

Gene Model

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

AlphaFold

Q6ZPR6

Predicted Effect

probably benign
Transcript: ENSMUST00000039213
AA Change: D2E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000041145
Gene: ENSMUSG00000035941
AA Change: D2E

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

probably benign
Transcript: ENSMUST00000187521
AA Change: D2E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000139424
Gene: ENSMUSG00000035941
AA Change: D2E

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.9%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	G	3: 59,659,444 (GRCm39)	E299G	probably damaging	Het
Adamtsl4	C	A	3: 95,587,473 (GRCm39)	R701L	probably damaging	Het
Adgrf5	T	C	17: 43,761,890 (GRCm39)	V1195A	probably damaging	Het
Agpat5	A	G	8: 18,931,878 (GRCm39)	T333A	possibly damaging	Het
Aspm	G	T	1: 139,392,033 (GRCm39)	G795C	probably damaging	Het
Car4	C	A	11: 84,856,626 (GRCm39)	Q305K	probably benign	Het
Catsperg1	T	C	7: 28,894,672 (GRCm39)	N612S	probably benign	Het
Cdc5l	G	A	17: 45,726,511 (GRCm39)	R354W	probably damaging	Het
Cdh9	G	A	15: 16,851,099 (GRCm39)	V623I	probably benign	Het
Cfap65	A	G	1: 74,964,061 (GRCm39)	V629A	probably benign	Het
Chd1	G	A	17: 15,956,005 (GRCm39)	V535I	probably damaging	Het
Col12a1	A	G	9: 79,585,329 (GRCm39)	V1316A	probably damaging	Het
Col6a3	A	T	1: 90,712,965 (GRCm39)	D1721E	unknown	Het
Cop1	T	A	1: 159,154,734 (GRCm39)	F647L	probably damaging	Het
Corin	A	C	5: 72,500,362 (GRCm39)	S421A	probably damaging	Het
Crb2	T	C	2: 37,680,833 (GRCm39)	V587A	probably damaging	Het
Ctc1	T	A	11: 68,920,636 (GRCm39)	V646E	possibly damaging	Het
Cyp2a12	A	T	7: 26,730,643 (GRCm39)	M203L	probably benign	Het
Dcdc2c	T	A	12: 28,566,656 (GRCm39)	K336M	possibly damaging	Het
Ddx39a	G	A	8: 84,448,950 (GRCm39)	R275H	probably benign	Het
Dennd2b	A	G	7: 109,156,519 (GRCm39)	L77P	probably benign	Het
Des	A	G	1: 75,339,572 (GRCm39)	N310S	possibly damaging	Het
Dlk1	C	A	12: 109,425,764 (GRCm39)	S212R	probably benign	Het
Dnajc5b	A	G	3: 19,633,224 (GRCm39)	E149G	probably benign	Het
Dpep1	A	T	8: 123,920,828 (GRCm39)	I3F	probably benign	Het
Eml6	T	A	11: 29,753,108 (GRCm39)	R934S	probably benign	Het
Ercc6l2	T	C	13: 64,016,925 (GRCm39)	L676P	possibly damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Frem2	T	A	3: 53,560,575 (GRCm39)	I1311F	probably damaging	Het
Gldc	T	A	19: 30,123,125 (GRCm39)	M257L	probably damaging	Het
Gm8674	T	G	13: 50,055,390 (GRCm39)		noncoding transcript	Het
Gnai3	C	T	3: 108,030,857 (GRCm39)		probably null	Het
Gtf3a	A	G	5: 146,891,965 (GRCm39)	D300G	probably damaging	Het
Haus3	A	T	5: 34,323,449 (GRCm39)	V387D	probably damaging	Het
Hpf1	T	A	8: 61,346,768 (GRCm39)	F28I	possibly damaging	Het
Iars1	A	G	13: 49,843,967 (GRCm39)	D147G	probably damaging	Het
Ift140	T	A	17: 25,239,601 (GRCm39)	I86K	possibly damaging	Het
Igf2bp2	T	A	16: 21,898,241 (GRCm39)	I235F	probably damaging	Het
Ighv3-8	G	T	12: 114,286,252 (GRCm39)	A30E	probably benign	Het
Kcnq5	T	A	1: 21,575,949 (GRCm39)	T252S	probably damaging	Het
Lrrc4b	A	T	7: 44,110,787 (GRCm39)	N220Y	probably damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Mamdc4	T	C	2: 25,454,702 (GRCm39)	T1037A	possibly damaging	Het
Mbd5	A	T	2: 49,162,106 (GRCm39)	I863F	possibly damaging	Het
Muc4	T	A	16: 32,570,484 (GRCm39)	S515T	possibly damaging	Het
Mylk4	T	A	13: 32,892,864 (GRCm39)		probably null	Het
Neu4	G	A	1: 93,952,669 (GRCm39)	R346H	probably benign	Het
Nxpe5	T	A	5: 138,238,200 (GRCm39)	Y253*	probably null	Het
Olfml2b	A	T	1: 170,477,330 (GRCm39)	E155V	probably damaging	Het
Or14a258	A	G	7: 86,034,867 (GRCm39)	*334Q	probably null	Het
Or6a2	T	A	7: 106,600,111 (GRCm39)	N319Y	probably benign	Het
Or8a1b	T	A	9: 37,623,300 (GRCm39)	I92F	probably damaging	Het
Pamr1	G	A	2: 102,417,029 (GRCm39)	A114T	probably damaging	Het
Pdzd2	T	A	15: 12,592,263 (GRCm39)	N127I	probably damaging	Het
Pglyrp4	C	T	3: 90,634,271 (GRCm39)	L5F	probably damaging	Het
Plce1	T	A	19: 38,747,279 (GRCm39)	S1667T	possibly damaging	Het
Qser1	A	T	2: 104,617,776 (GRCm39)	V1012E	possibly damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rcn3	A	T	7: 44,736,203 (GRCm39)	D168E	probably damaging	Het
Rdh1	T	G	10: 127,595,832 (GRCm39)	V9G	possibly damaging	Het
Rin2	A	G	2: 145,686,680 (GRCm39)	T70A	probably benign	Het
Rnf207	T	C	4: 152,398,346 (GRCm39)	D276G	probably damaging	Het
Rtel1	C	T	2: 180,982,354 (GRCm39)	S368L	probably benign	Het
Slc15a5	C	A	6: 138,056,751 (GRCm39)	C55F	probably damaging	Het
Slc36a4	T	C	9: 15,638,212 (GRCm39)	F213L	possibly damaging	Het
Snhg16	G	T	11: 116,562,582 (GRCm39)	M18I	probably benign	Het
Spata25	C	T	2: 164,669,954 (GRCm39)	G19D	probably damaging	Het
Tas2r102	A	T	6: 132,739,360 (GRCm39)	L89F	probably damaging	Het
Tbc1d1	A	G	5: 64,481,910 (GRCm39)	K704E	probably damaging	Het
Tert	T	G	13: 73,775,473 (GRCm39)	S75A	probably damaging	Het
Tiparp	T	A	3: 65,454,986 (GRCm39)	L195Q	possibly damaging	Het
Tmem205	A	C	9: 21,837,380 (GRCm39)	Y57*	probably null	Het
Tomm22	A	G	15: 79,555,428 (GRCm39)	R5G	probably benign	Het
Trav10	A	T	14: 53,743,515 (GRCm39)	S39C	probably benign	Het
Trav6-2	T	A	14: 52,905,205 (GRCm39)	N75K	probably benign	Het
Trio	T	C	15: 27,748,372 (GRCm39)	S2427G	probably benign	Het
Ttc41	C	A	10: 86,580,342 (GRCm39)	H763N	possibly damaging	Het
Usp29	A	T	7: 6,964,583 (GRCm39)	N142I	probably damaging	Het
Vmn1r204	G	T	13: 22,740,912 (GRCm39)	W181L	probably damaging	Het
Vmn2r76	G	A	7: 85,875,267 (GRCm39)	T570M	probably damaging	Het
Wdr90	A	G	17: 26,069,819 (GRCm39)	L1173P	probably damaging	Het
Wnt9a	T	A	11: 59,219,396 (GRCm39)	C141S	probably damaging	Het
Zfp462	A	T	4: 55,012,299 (GRCm39)	I1422L	probably benign	Het

Other mutations in Ibtk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00656:Ibtk	APN	9	85,599,598 (GRCm39)	splice site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TTTCTCAATCAGCCAGTCCAAC -3'
(R):5'- GTCACCCTCGCAATTATGGC -3'

Sequencing Primer
(F):5'- AGCCAGTCCAACACTCCTTTC -3'
(R):5'- TGGCTATTTGAAAGGCTCAGAC -3'

Posted On

2016-07-06