Mutagenetix > Incidental Mutations

Incidental Mutation 'R4947:Ibtk'

383510

Institutional Source

Beutler Lab

Gene Symbol

Ibtk

Ensembl Gene

ENSMUSG00000035941

Gene Name

inhibitor of Bruton agammaglobulinemia tyrosine kinase

Synonyms

5430411K16Rik

MMRRC Submission

042544-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4947 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85687360-85749334 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85710412 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 998 (T998A)

Ref Sequence

ENSEMBL: ENSMUSP00000041145 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000039213
AA Change: T998A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000041145
Gene: ENSMUSG00000035941
AA Change: T998A

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: ENSMUST00000186322

Predicted Effect

probably benign
Transcript: ENSMUST00000187521

SMART Domains

Protein: ENSMUSP00000139424
Gene: ENSMUSG00000035941

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188768

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.4%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	T	A	7: 131,357,614	H119L	probably damaging	Het
Acvr1c	T	A	2: 58,315,975	Q41L	probably benign	Het
Adamtsl1	A	T	4: 85,764,800	Q36L	possibly damaging	Het
Als2cr12	T	A	1: 58,676,539	T173S	probably benign	Het
BC117090	T	C	16: 36,321,765	Y83C	probably damaging	Het
Bcl2a1a	G	A	9: 88,957,282	E78K	probably damaging	Het
C130026I21Rik	G	A	1: 85,112,482	A124V	probably damaging	Het
Cdk5rap2	A	G	4: 70,228,592		probably null	Het
Copg1	C	A	6: 87,903,473		probably benign	Het
Crb2	C	T	2: 37,795,331		probably benign	Het
Ctbp2	C	A	7: 132,999,283	G584C	probably damaging	Het
Cyp11b2	T	C	15: 74,851,570	N415S	possibly damaging	Het
D630003M21Rik	T	A	2: 158,186,196	T1095S	unknown	Het
D630045J12Rik	C	T	6: 38,148,543	R1512H	probably damaging	Het
Dnah5	T	A	15: 28,272,372	V1078E	probably benign	Het
Donson	A	T	16: 91,682,551	D366E	probably damaging	Het
Evpl	T	C	11: 116,223,375	E1163G	possibly damaging	Het
Fcgbp	A	G	7: 28,089,812	K601R	probably benign	Het
Fez1	A	C	9: 36,868,875	I323L	probably damaging	Het
Fmnl2	T	G	2: 53,073,710	S285A	probably benign	Het
Frem1	A	G	4: 82,966,134	S1194P	probably damaging	Het
Gm10754	A	T	10: 97,682,148		probably benign	Het
Gm14226	A	T	2: 155,024,959	T279S	probably benign	Het
Gm16332	G	A	1: 139,865,992		noncoding transcript	Het
Gm21718	T	A	14: 51,315,959		noncoding transcript	Het
Gm9866	A	T	12: 27,160,228		noncoding transcript	Het
Gm9871	A	G	6: 101,796,773		noncoding transcript	Het
Grm1	A	G	10: 10,782,633	F371S	probably damaging	Het
Gtdc1	T	C	2: 44,591,956	I128V	probably null	Het
H2-Q3	T	A	17: 35,359,732		noncoding transcript	Het
Ifi204	A	G	1: 173,755,750	S301P	probably damaging	Het
Kcnn1	C	A	8: 70,844,429	A545S	probably benign	Het
Keap1	T	G	9: 21,237,553	S53R	probably benign	Het
Lat	A	G	7: 126,367,938	V138A	probably benign	Het
Lrpprc	A	T	17: 84,771,538	N249K	probably benign	Het
Lrrc40	A	G	3: 158,063,835	I557V	probably benign	Het
Maml3	A	G	3: 51,856,539	F335L	probably benign	Het
Mcmbp	A	T	7: 128,712,696	D265E	probably damaging	Het
Me3	A	G	7: 89,633,014	H35R	probably benign	Het
Mif4gd	C	A	11: 115,609,637	V32L	probably benign	Het
Mlana	T	C	19: 29,700,151	S18P	probably damaging	Het
Mpnd	T	A	17: 56,010,268		probably benign	Het
Ms4a4b	T	C	19: 11,454,737	V74A	probably benign	Het
Mta2	T	C	19: 8,946,291	F133L	possibly damaging	Het
Myo5a	A	G	9: 75,123,048	M150V	probably damaging	Het
Nbr1	T	C	11: 101,575,077	V487A	probably benign	Het
Nos3	G	A	5: 24,377,855	C660Y	probably damaging	Het
Ocln	T	C	13: 100,539,715	D90G	probably damaging	Het
Olfr109	T	C	17: 37,466,743	V179A	probably damaging	Het
Olfr186	A	G	16: 59,027,445	L154P	probably damaging	Het
Olfr376	C	T	11: 73,375,417	R223*	probably null	Het
Olfr669	A	G	7: 104,938,742	D72G	possibly damaging	Het
Pcdh7	A	G	5: 57,721,916	K938E	probably damaging	Het
Pcgf3	T	C	5: 108,487,961	F166L	probably benign	Het
Pid1	A	T	1: 84,038,260	V128E	possibly damaging	Het
Polr3a	A	C	14: 24,482,464	D187E	probably benign	Het
Prokr2	T	C	2: 132,373,653	D135G	probably damaging	Het
Rnf141	T	C	7: 110,825,320	T14A	possibly damaging	Het
Serinc1	T	C	10: 57,523,045	E254G	probably damaging	Het
Skint11	T	C	4: 114,191,510	F11L	possibly damaging	Het
Slc22a28	T	C	19: 8,131,452	T109A	probably benign	Het
Sntg1	C	A	1: 8,782,798	V43L	probably damaging	Het
Strn	T	C	17: 78,661,779	D398G	probably damaging	Het
Tacc2	A	T	7: 130,625,899	E1438V	probably damaging	Het
Tas2r139	A	G	6: 42,141,566	T211A	possibly damaging	Het
Tbkbp1	T	C	11: 97,138,944		probably benign	Het
Thbs3	T	C	3: 89,226,431	Y897H	probably damaging	Het
Timm50	G	T	7: 28,310,044		probably benign	Het
Tmem132a	T	C	19: 10,866,934	Q100R	possibly damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Unc93b1	C	A	19: 3,935,871	T90K	probably benign	Het
Upk3bl	T	C	5: 136,057,245		probably benign	Het
Vmn2r112	T	A	17: 22,602,879	H179Q	probably benign	Het
Vmn2r57	A	T	7: 41,400,495	F610Y	probably damaging	Het
Vmn2r80	T	G	10: 79,194,698	L786R	probably damaging	Het
Zc3h14	A	G	12: 98,759,824	T323A	probably benign	Het
Zfp532	T	C	18: 65,625,066	I690T	possibly damaging	Het
Zfp729b	T	C	13: 67,596,672	N47S	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
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
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
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'- CTGCATGCATCTTTTACAGTTTCAG -3'
(R):5'- GTTAGTGATTTGCCCAGCCC -3'

Sequencing Primer
(F):5'- GCAGCAATTAAAGGCTCTTGC -3'
(R):5'- CCTTCCTGGGCGTATGTATAGC -3'

Posted On

2016-04-27