Mutagenetix > Incidental Mutations

Incidental Mutation 'R1462:Ibtk'

186326

Institutional Source

Beutler Lab

Gene Symbol

Ibtk

Ensembl Gene

ENSMUSG00000035941

Gene Name

inhibitor of Bruton agammaglobulinemia tyrosine kinase

Synonyms

5430411K16Rik

MMRRC Submission

039516-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1462 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85687360-85749334 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85724145 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 443 (I443N)

Ref Sequence

ENSEMBL: ENSMUSP00000041145 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000039213
AA Change: I443N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041145
Gene: ENSMUSG00000035941
AA Change: I443N

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: ENSMUST00000186322

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186447

Predicted Effect

probably damaging
Transcript: ENSMUST00000187521
AA Change: I443N

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139424
Gene: ENSMUSG00000035941
AA Change: I443N

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

0.7207

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 92.0%

Validation Efficiency

99% (83/84)

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
4930433I11Rik	C	A	7: 40,992,946	S104*	probably null	Het
A430093F15Rik	A	T	19: 10,785,481		probably benign	Het
Abca13	T	A	11: 9,483,924		probably benign	Het
Abca9	T	C	11: 110,160,516	D118G	probably benign	Het
AC239677.1	T	A	5: 25,951,625	I119F	possibly damaging	Het
Adamts16	A	G	13: 70,836,134	F137L	probably benign	Het
Adamts3	T	C	5: 89,861,349	I152V	probably benign	Het
Adcy4	T	A	14: 55,778,308	E441D	possibly damaging	Het
Adgra1	T	A	7: 139,875,829	Y458N	probably damaging	Het
Atpaf1	C	T	4: 115,784,953		probably benign	Het
Bhlhe22	C	G	3: 18,055,782	S332C	probably damaging	Het
Card19	T	A	13: 49,205,284	Q71L	probably benign	Het
Ccdc12	T	C	9: 110,656,594	L11P	probably damaging	Het
Ccdc129	A	G	6: 55,975,664	H864R	probably damaging	Het
Cdadc1	A	G	14: 59,575,858	Y367H	probably damaging	Het
Cdc5l	G	T	17: 45,408,362	Q542K	possibly damaging	Het
Cep170	T	C	1: 176,756,645	K723E	possibly damaging	Het
Cep70	A	G	9: 99,263,720	I147V	probably benign	Het
Cfap58	A	T	19: 47,962,430	H410L	probably damaging	Het
Chat	T	C	14: 32,420,778	K418R	probably damaging	Het
Cic	T	G	7: 25,271,607	D254E	probably damaging	Het
Ckap4	T	C	10: 84,527,567	E544G	probably damaging	Het
Crnkl1	C	T	2: 145,921,819	A500T	probably damaging	Het
Cyp2c38	T	C	19: 39,392,188	N418D	probably damaging	Het
Daam1	A	T	12: 71,944,142	I177L	unknown	Het
Dnah1	T	C	14: 31,268,781		probably benign	Het
Ercc5	A	G	1: 44,180,624	T1019A	probably damaging	Het
F13b	T	A	1: 139,507,636	V173E	probably damaging	Het
Fam126a	A	G	5: 23,985,732		probably benign	Het
Fam135b	A	G	15: 71,621,996		probably benign	Het
Fam20a	A	C	11: 109,677,317	F316V	probably damaging	Het
Flrt2	T	C	12: 95,779,338	V150A	probably damaging	Het
Fnta	A	C	8: 25,999,571		probably null	Het
Ghsr	A	G	3: 27,371,876	D27G	probably benign	Het
Glis3	G	T	19: 28,262,518		probably benign	Het
Gm5155	T	G	7: 17,915,591		noncoding transcript	Het
Gtpbp1	A	G	15: 79,707,885	N96D	probably damaging	Het
H1fnt	A	T	15: 98,256,573	W232R	unknown	Het
Ifi207	T	C	1: 173,724,947	H968R	probably damaging	Het
Ifit2	A	G	19: 34,573,186	D42G	probably null	Het
Il17rc	A	T	6: 113,478,989	D265V	probably damaging	Het
Ints10	G	A	8: 68,807,644		probably benign	Het
Itfg2	T	C	6: 128,424,728	D29G	probably damaging	Het
Kcng3	A	T	17: 83,631,063	C186S	probably damaging	Het
Lrrc1	A	G	9: 77,442,265	F295L	probably benign	Het
Mrps28	T	A	3: 8,900,124	H85L	possibly damaging	Het
Mtpn	T	A	6: 35,522,758	K37M	possibly damaging	Het
Mug1	C	T	6: 121,882,629	H1196Y	probably benign	Het
Mup4	T	C	4: 59,960,084	H60R	possibly damaging	Het
Musk	A	G	4: 58,286,204		probably benign	Het
Mybl2	T	C	2: 163,072,708	S249P	probably benign	Het
Naip6	A	G	13: 100,300,240	Y592H	possibly damaging	Het
Nrp1	A	G	8: 128,502,798	N919S	probably benign	Het
Nudt9	C	T	5: 104,065,038	Q326*	probably null	Het
Olfr1136	A	T	2: 87,693,376	C169S	probably damaging	Het
Olfr813	A	G	10: 129,857,231	T238A	probably damaging	Het
Olfr827	T	A	10: 130,210,723	I136F	probably benign	Het
Olfr829	T	A	9: 18,857,111	M162K	probably benign	Het
Pcsk4	T	C	10: 80,325,981	E142G	probably damaging	Het
Pde3a	C	A	6: 141,459,834	P471T	probably benign	Het
Pign	A	T	1: 105,585,002	V652E	possibly damaging	Het
Prkcb	T	A	7: 122,582,449	M420K	probably damaging	Het
Prr14	T	A	7: 127,473,988		probably null	Het
Rchy1	T	A	5: 91,957,882	Q69L	probably damaging	Het
Sccpdh	A	C	1: 179,681,560		probably benign	Het
Sec23ip	T	G	7: 128,766,138	S625A	probably benign	Het
Smpdl3b	A	G	4: 132,746,614	S47P	probably damaging	Het
Stil	G	A	4: 115,023,964	M568I	probably benign	Het
Syt3	T	A	7: 44,396,010	V558E	probably damaging	Het
Sytl3	A	G	17: 6,706,031		probably benign	Het
Szt2	A	G	4: 118,373,967	V2533A	unknown	Het
Tenm4	A	G	7: 96,704,153	Y384C	probably damaging	Het
Tfam	T	C	10: 71,235,550	E94G	probably damaging	Het
Tmbim7	A	G	5: 3,664,304	T14A	probably damaging	Het
Tmtc2	A	T	10: 105,573,705	Y15*	probably null	Het
Uhrf1	C	T	17: 56,318,035	A526V	probably damaging	Het
Vmn2r67	T	C	7: 85,155,838	D22G	probably benign	Het
Vmn2r96	A	G	17: 18,597,398	I412M	possibly damaging	Het
Vmn2r-ps69	T	A	7: 85,310,352		noncoding transcript	Het
Wdr17	A	T	8: 54,670,328	I479K	probably damaging	Het
Wt1	T	C	2: 105,166,831	V371A	probably damaging	Het
Zfp536	G	T	7: 37,479,310	S226Y	probably damaging	Het
Zfp827	T	C	8: 79,076,479	V560A	probably benign	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
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
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	not run
R8065:Ibtk	UTSW	9	85720863	missense	probably benign	0.13
X0021:Ibtk	UTSW	9	85697174	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- ACGTAATGAAGGACCACAATGCCAG -3'
(R):5'- AGTCATGGAAACACACAAGCTCAGG -3'

Sequencing Primer
(F):5'- TGCCAGAGAGTACATTCAATGC -3'
(R):5'- GCTCAGGCACTTACTCTGACAG -3'

Posted On

2014-05-09