Mutagenetix > Incidental Mutation

Incidental Mutation 'R8906:Ibtk'

680123

Institutional Source

Beutler Lab

Gene Symbol

Ibtk

Ensembl Gene

ENSMUSG00000035941

Gene Name

inhibitor of Bruton agammaglobulinemia tyrosine kinase

Synonyms

5430411K16Rik

MMRRC Submission

068699-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8906 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85569413-85631387 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 85625457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 98 (H98N)

Ref Sequence

ENSEMBL: ENSMUSP00000041145 (fasta)

Gene Model

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

AlphaFold

Q6ZPR6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039213
AA Change: H98N

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041145
Gene: ENSMUSG00000035941
AA Change: H98N

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

possibly damaging
Transcript: ENSMUST00000187521
AA Change: H98N

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139424
Gene: ENSMUSG00000035941
AA Change: H98N

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (88/88)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	C	19: 3,766,686 (GRCm39)	N91T	possibly damaging	Het
2510009E07Rik	CCGGAAGGGGAGGAGCAGTGACCCAGTTTCGGA	CCGGA	16: 21,472,148 (GRCm39)		probably null	Het
4932414N04Rik	A	G	2: 68,562,498 (GRCm39)	D375G	possibly damaging	Het
Adad2	C	A	8: 120,339,725 (GRCm39)	P69Q	probably benign	Het
Adamts3	G	A	5: 89,825,575 (GRCm39)	T1088I	probably damaging	Het
Ank2	A	G	3: 126,726,720 (GRCm39)	V858A	probably benign	Het
Ankrd13a	A	G	5: 114,939,798 (GRCm39)	N475S	probably benign	Het
Barhl2	G	A	5: 106,603,352 (GRCm39)	T269I	probably benign	Het
Boc	G	A	16: 44,323,931 (GRCm39)	R157W		Het
Bsn	G	T	9: 107,984,752 (GRCm39)	P3101T	unknown	Het
Catsperb	C	A	12: 101,486,904 (GRCm39)	A477E	possibly damaging	Het
Ccser1	T	A	6: 61,787,842 (GRCm39)	I220K	probably benign	Het
Cd200r3	A	T	16: 44,778,102 (GRCm39)	I242F	possibly damaging	Het
Cdc34b	A	C	11: 94,632,911 (GRCm39)	D37A	probably damaging	Het
Chek2	A	G	5: 111,013,458 (GRCm39)		probably benign	Het
Cngb1	A	T	8: 95,989,736 (GRCm39)	V792D	probably damaging	Het
Cops7a	T	C	6: 124,939,371 (GRCm39)	K93E	possibly damaging	Het
Crispld1	T	C	1: 17,820,995 (GRCm39)	I345T	possibly damaging	Het
Dgkd	A	G	1: 87,869,157 (GRCm39)	D1170G	probably damaging	Het
Dhx35	A	G	2: 158,648,918 (GRCm39)	T115A	possibly damaging	Het
Dnai1	G	A	4: 41,625,125 (GRCm39)	R363H	probably benign	Het
Dnmbp	T	A	19: 43,878,681 (GRCm39)	Q130L	probably benign	Het
Egfr	A	G	11: 16,861,635 (GRCm39)	Y1138C	probably damaging	Het
Elf3	A	T	1: 135,182,678 (GRCm39)	L329Q	probably damaging	Het
Enkur	A	G	2: 21,201,568 (GRCm39)	M39T	probably benign	Het
Epha7	T	C	4: 28,821,615 (GRCm39)	I260T	probably damaging	Het
Fbxo28	A	T	1: 182,144,634 (GRCm39)	I310K	probably damaging	Het
Fga	C	A	3: 82,939,111 (GRCm39)	N495K	probably benign	Het
Galnt6	T	C	15: 100,601,247 (GRCm39)	D344G	probably damaging	Het
Gm572	A	G	4: 148,751,290 (GRCm39)	Q221R	probably benign	Het
Gpa33	G	A	1: 165,974,216 (GRCm39)	A18T	probably benign	Het
Gpatch11	C	T	17: 79,145,289 (GRCm39)	T6I	probably benign	Het
Gpr84	T	A	15: 103,217,625 (GRCm39)	S151C	probably damaging	Het
H2-M11	T	A	17: 36,859,851 (GRCm39)	Y281*	probably null	Het
Hadh	T	C	3: 131,038,891 (GRCm39)	N155S	probably benign	Het
Hoxd13	A	G	2: 74,500,266 (GRCm39)	Y269C		Het
Iars1	T	A	13: 49,882,177 (GRCm39)	C1074S	probably benign	Het
Igsf10	C	T	3: 59,233,739 (GRCm39)	G1665R	probably benign	Het
Inpp5d	A	G	1: 87,625,337 (GRCm39)		probably benign	Het
Ipo9	A	C	1: 135,321,951 (GRCm39)	V593G	probably damaging	Het
Irx3	T	C	8: 92,526,915 (GRCm39)	D263G	possibly damaging	Het
Kif13a	A	G	13: 46,927,154 (GRCm39)	V1179A	probably benign	Het
Lrrc4c	T	C	2: 97,460,393 (GRCm39)	Y340H	probably benign	Het
Lysmd1	A	G	3: 95,045,219 (GRCm39)	D155G	probably damaging	Het
Mical2	T	A	7: 111,980,671 (GRCm39)	I105N	probably damaging	Het
Mob2	A	T	7: 141,563,261 (GRCm39)	L66Q	probably damaging	Het
Myh1	A	G	11: 67,096,739 (GRCm39)	S337G	probably benign	Het
Neb	T	C	2: 52,096,259 (GRCm39)	D1002G	probably benign	Het
Nebl	A	T	2: 17,382,928 (GRCm39)	N116K	probably benign	Het
Nkx2-6	T	C	14: 69,412,623 (GRCm39)	S264P	probably benign	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Nlrp4e	A	G	7: 23,020,556 (GRCm39)	T348A	possibly damaging	Het
Nomo1	A	T	7: 45,722,004 (GRCm39)	I982F	probably benign	Het
Or10j5	A	G	1: 172,784,186 (GRCm39)		probably benign	Het
Or11g24	T	G	14: 50,662,291 (GRCm39)	F105C	probably damaging	Het
Or1j19	A	T	2: 36,676,621 (GRCm39)	Y28F	probably benign	Het
Or8g22	A	G	9: 38,958,077 (GRCm39)	F213L	possibly damaging	Het
Palld	A	G	8: 62,003,198 (GRCm39)		probably null	Het
Pcdh7	A	G	5: 57,879,154 (GRCm39)	Y903C	probably damaging	Het
Pknox2	G	A	9: 36,804,167 (GRCm39)	T460M	possibly damaging	Het
Ppm1h	C	T	10: 122,714,451 (GRCm39)	T330I	probably damaging	Het
Ppp2r2b	C	T	18: 42,821,399 (GRCm39)	R253H	probably damaging	Het
Pramel58	G	T	5: 94,831,413 (GRCm39)	R140L	possibly damaging	Het
Prr18	G	A	17: 8,560,476 (GRCm39)	A211T	probably benign	Het
Ptgs2	A	G	1: 149,979,859 (GRCm39)	I321M		Het
Rara	G	T	11: 98,860,989 (GRCm39)	R159L	probably damaging	Het
Rasa4	T	A	5: 136,133,446 (GRCm39)	I635N	probably benign	Het
Rxfp2	A	T	5: 149,989,888 (GRCm39)	H423L	possibly damaging	Het
Scn4b	A	G	9: 45,059,169 (GRCm39)	I147V	possibly damaging	Het
Scrn3	G	A	2: 73,161,352 (GRCm39)	V313I	probably benign	Het
Scrn3	C	A	2: 73,161,355 (GRCm39)	P314T	possibly damaging	Het
Sh2b1	A	G	7: 126,070,292 (GRCm39)		probably null	Het
Slc26a10	T	C	10: 127,016,459 (GRCm39)	Q3R	probably benign	Het
Slitrk1	A	G	14: 109,149,139 (GRCm39)	I524T	probably damaging	Het
Smcp	T	A	3: 92,491,530 (GRCm39)	N106Y	unknown	Het
Spata31h1	T	C	10: 82,122,379 (GRCm39)	T3544A	probably benign	Het
St8sia5	G	A	18: 77,336,172 (GRCm39)	V202M	probably damaging	Het
Stxbp5l	A	T	16: 37,028,526 (GRCm39)	D512E	probably damaging	Het
Tas1r2	A	G	4: 139,397,046 (GRCm39)	E795G	probably damaging	Het
Tdrd1	T	A	19: 56,831,145 (GRCm39)	V320D	probably damaging	Het
Tmem71	T	A	15: 66,404,606 (GRCm39)	I261L	probably benign	Het
Tns2	T	C	15: 102,020,039 (GRCm39)	L643P	probably damaging	Het
Upf1	G	A	8: 70,786,815 (GRCm39)	Q890*	probably null	Het
Usp43	A	T	11: 67,782,307 (GRCm39)	H370Q	possibly damaging	Het
Vmn1r236	T	A	17: 21,507,356 (GRCm39)	I158N	possibly damaging	Het
Vmn2r98	T	A	17: 19,286,532 (GRCm39)	N343K	probably benign	Het
Vwa8	T	C	14: 79,329,815 (GRCm39)	S1216P	probably benign	Het
Yars1	A	C	4: 129,090,747 (GRCm39)	D97A	probably damaging	Het
Zer1	G	A	2: 30,001,035 (GRCm39)	H129Y	probably benign	Het
Zfat	C	T	15: 67,956,404 (GRCm39)	D1143N	possibly damaging	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
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
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'- TCTTCTGATGAGAAACACAAAGGG -3'
(R):5'- TACAATGCTGCAACTGTCAAGG -3'

Sequencing Primer
(F):5'- GAGGTGGAGGTGGGAGGAATAAAG -3'
(R):5'- CAACTGTCAAGGATGCCTTTG -3'

Posted On

2021-08-31