Mutagenetix > Incidental Mutation

Incidental Mutation 'R0558:Ibtk'

45736

Institutional Source

Beutler Lab

Gene Symbol

Ibtk

Ensembl Gene

ENSMUSG00000035941

Gene Name

inhibitor of Bruton agammaglobulinemia tyrosine kinase

Synonyms

5430411K16Rik

MMRRC Submission

038750-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0558 (G1)

Quality Score

191

Status

Validated

Chromosome

Chromosomal Location

85569413-85631387 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 85619591 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 116 (D116E)

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: D116E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041145
Gene: ENSMUSG00000035941
AA Change: D116E

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 damaging
Transcript: ENSMUST00000187521
AA Change: D116E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139424
Gene: ENSMUSG00000035941
AA Change: D116E

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

Meta Mutation Damage Score

0.5952

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (80/80)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,789,163 (GRCm39)	G273R	probably benign	Het
Adamts10	T	C	17: 33,769,583 (GRCm39)	V935A	probably benign	Het
Anapc15-ps	T	C	10: 95,508,983 (GRCm39)	D90G	probably damaging	Het
Atic	T	A	1: 71,602,947 (GRCm39)	V107E	probably benign	Het
Atp4b	T	C	8: 13,443,523 (GRCm39)	T52A	possibly damaging	Het
Cacna1h	C	T	17: 25,600,524 (GRCm39)	A1606T	probably damaging	Het
Cacng6	T	A	7: 3,483,324 (GRCm39)	Y217*	probably null	Het
Cc2d2a	T	G	5: 43,881,729 (GRCm39)		probably benign	Het
Cd226	T	A	18: 89,225,338 (GRCm39)	H78Q	probably benign	Het
Cers3	A	G	7: 66,433,166 (GRCm39)	D161G	probably damaging	Het
Ces1f	T	C	8: 94,002,017 (GRCm39)	H37R	probably benign	Het
Cfhr4	A	G	1: 139,667,230 (GRCm39)	V376A	probably damaging	Het
Chek1	T	A	9: 36,623,411 (GRCm39)	N421I	possibly damaging	Het
Cibar1	T	C	4: 12,164,095 (GRCm39)	D248G	probably damaging	Het
Cma2	T	C	14: 56,210,249 (GRCm39)	Y45H	probably damaging	Het
Cmas	C	A	6: 142,720,970 (GRCm39)	Y401*	probably null	Het
Cyp2j8	A	T	4: 96,332,871 (GRCm39)	S492T	probably benign	Het
Dnah12	T	C	14: 26,430,465 (GRCm39)	S358P	probably benign	Het
Dnajc13	T	C	9: 104,079,151 (GRCm39)		probably null	Het
Ep400	A	C	5: 110,832,933 (GRCm39)		probably benign	Het
Fam209	T	A	2: 172,314,758 (GRCm39)	N82K	probably benign	Het
G3bp2	A	T	5: 92,221,056 (GRCm39)	Y20N	probably damaging	Het
Gli2	T	C	1: 118,765,379 (GRCm39)	D924G	probably benign	Het
Gm10787	T	C	10: 76,857,850 (GRCm39)		noncoding transcript	Het
Gm11568	A	G	11: 99,748,872 (GRCm39)	R26G	unknown	Het
Hivep3	T	G	4: 119,953,763 (GRCm39)	L693R	probably damaging	Het
Hook1	A	G	4: 95,881,449 (GRCm39)		probably benign	Het
Insrr	C	T	3: 87,718,288 (GRCm39)	T927I	possibly damaging	Het
Irx1	T	G	13: 72,107,747 (GRCm39)	S312R	probably benign	Het
Itga11	T	C	9: 62,659,570 (GRCm39)	Y441H	probably benign	Het
Itsn1	A	G	16: 91,696,511 (GRCm39)	D38G	possibly damaging	Het
Kat6b	G	T	14: 21,719,489 (GRCm39)	E1280D	probably benign	Het
Kcnk10	T	A	12: 98,402,560 (GRCm39)	Y293F	possibly damaging	Het
Krt74	T	A	15: 101,669,398 (GRCm39)		noncoding transcript	Het
Lars1	T	G	18: 42,347,902 (GRCm39)	I974L	probably benign	Het
Limch1	A	G	5: 67,126,498 (GRCm39)	D42G	probably damaging	Het
Mau2	G	C	8: 70,495,082 (GRCm39)	T85R	probably damaging	Het
Mkrn3	A	G	7: 62,068,612 (GRCm39)	I393T	probably benign	Het
Mpl	A	C	4: 118,301,217 (GRCm39)	S541R	probably damaging	Het
Nfrkb	T	C	9: 31,321,564 (GRCm39)	S754P	possibly damaging	Het
Or4c125	A	G	2: 89,170,580 (GRCm39)	L22P	probably benign	Het
Or5bw2	T	C	7: 6,573,652 (GRCm39)	Y221H	possibly damaging	Het
Or5d41	A	G	2: 88,054,818 (GRCm39)	V186A	possibly damaging	Het
Or8g18	T	A	9: 39,149,496 (GRCm39)	T75S	probably damaging	Het
P2rx7	A	T	5: 122,811,861 (GRCm39)	I391F	possibly damaging	Het
Pbrm1	T	A	14: 30,807,016 (GRCm39)		probably null	Het
Pcdh8	T	C	14: 80,007,516 (GRCm39)	D349G	probably damaging	Het
Pias1	A	G	9: 62,789,291 (GRCm39)	S639P	possibly damaging	Het
Pkhd1l1	A	T	15: 44,347,820 (GRCm39)	I232F	probably damaging	Het
Plxnc1	C	T	10: 94,673,797 (GRCm39)	R995Q	probably damaging	Het
Pnliprp2	T	A	19: 58,762,519 (GRCm39)	S375T	probably benign	Het
Prkar1b	C	T	5: 139,005,847 (GRCm39)	V313M	probably benign	Het
Prr35	T	C	17: 26,166,523 (GRCm39)	N338S	probably benign	Het
Ptpn13	T	C	5: 103,677,583 (GRCm39)	S734P	probably damaging	Het
Rdh1	T	C	10: 127,595,810 (GRCm39)	W2R	possibly damaging	Het
Rsph10b	A	T	5: 143,886,156 (GRCm39)	I285L	probably benign	Het
Rubcnl	T	C	14: 75,284,987 (GRCm39)	F502S	probably damaging	Het
Ryr2	T	A	13: 11,653,329 (GRCm39)	I3693F	probably damaging	Het
Ryr2	T	C	13: 11,814,747 (GRCm39)	Y675C	probably damaging	Het
Scaper	T	C	9: 55,593,207 (GRCm39)	T477A	probably benign	Het
Scn2a	G	T	2: 65,542,269 (GRCm39)	V791L	probably benign	Het
Sdk1	A	T	5: 142,117,820 (GRCm39)	T1573S	probably damaging	Het
Sema3c	A	T	5: 17,919,413 (GRCm39)	H483L	probably benign	Het
Sema6c	T	C	3: 95,076,002 (GRCm39)	S219P	probably damaging	Het
Slc10a5	T	G	3: 10,400,177 (GRCm39)	E161A	probably damaging	Het
Slc22a23	C	T	13: 34,528,366 (GRCm39)	G139S	possibly damaging	Het
Slc34a3	C	T	2: 25,123,077 (GRCm39)		probably benign	Het
Slc38a9	A	T	13: 112,865,730 (GRCm39)		probably null	Het
Taok1	A	C	11: 77,450,670 (GRCm39)	S367R	possibly damaging	Het
Tlr6	G	A	5: 65,112,203 (GRCm39)	Q235*	probably null	Het
Top2a	A	G	11: 98,887,665 (GRCm39)	V1281A	probably benign	Het
Tpgs1	T	C	10: 79,511,616 (GRCm39)	Y253H	probably damaging	Het
Tubgcp3	T	C	8: 12,703,462 (GRCm39)	T288A	probably benign	Het
Ubr4	A	G	4: 139,154,213 (GRCm39)	E2140G	probably benign	Het
Uso1	A	G	5: 92,321,878 (GRCm39)	Q257R	probably benign	Het
Zfp106	A	G	2: 120,362,677 (GRCm39)	V48A	probably damaging	Het
Zfp174	T	A	16: 3,666,118 (GRCm39)	S128T	possibly damaging	Het
Zscan26	T	A	13: 21,629,225 (GRCm39)	D426V	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
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
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

Posted On

2013-06-11